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ABL1 Gene

protein-coding   GIFtS: 75
GCID: GC09P133589

C-Abl Oncogene 1, Non-Receptor Tyrosine Kinase

(Previous names: v-abl Abelson murine leukemia viral oncogene homolog 1,...)
(Previous symbol: ABL)
  See ABL1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
C-Abl Oncogene 1, Non-Receptor Tyrosine Kinase1 2     bcr/abl2
ABL1 2 3     Bcr/C-Abl Oncogene Protein2
C-Abl Oncogene 1, Receptor Tyrosine Kinase1 2     c-ABL2
V-Abl Abelson Murine Leukemia Viral Oncogene Homolog 11 2     c-ABL12
Proto-Oncogene C-Abl2 3     Proto-Oncogene Tyrosine-Protein Kinase ABL12
JTK72 3     Tyrosine-Protein Kinase ABL12
Abelson Tyrosine-Protein Kinase 12 3     v-abl2
p1502 3     Abelson Murine Leukemia Viral Oncogene Homolog 13
EC 2.7.10.23 8     EC 2.7.108

External Ids:    HGNC: 761   Entrez Gene: 252   Ensembl: ENSG000000970077   OMIM: 1899805   UniProtKB: P005193   

Export aliases for ABL1 gene to outside databases

Previous GC identifers: GC09P124604 GC09P125136 GC09P126943 GC09P128865 GC09P130619 GC09P132579 GC09P103075


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ABL1 Gene:
The ABL1 protooncogene encodes a cytoplasmic and nuclear protein tyrosine kinase that has been implicated in
processes of cell differentiation, cell division, cell adhesion, and stress response. Activity of c-Abl protein
is negatively regulated by its SH3 domain, and deletion of the SH3 domain turns ABL1 into an oncogene. The
t(9;22) translocation results in the head-to-tail fusion of the BCR (MIM:151410) and ABL1 genes present in many
cases of chronic myelogeneous leukemia. The DNA-binding activity of the ubiquitously expressed ABL1 tyrosine
kinase is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function for ABL1. The ABL1 gene is
expressed as either a 6- or 7-kb mRNA transcript, with alternatively spliced first exons spliced to the common
exons 2-11. (provided by RefSeq, Jul 2008)

GeneCards Summary for ABL1 Gene:
ABL1 (c-abl oncogene 1, non-receptor tyrosine kinase) is a protein-coding gene. Diseases associated with ABL1 include leukemia, philadelphia chromosome-positive, resistant to imatinib, and chronic myeloid leukemia. GO annotations related to this gene include SH3 domain binding and magnesium ion binding. An important paralog of this gene is FRK.

UniProtKB/Swiss-Prot: ABL1_HUMAN, P00519
Function: Non-receptor tyrosine-protein kinase that plays a role in many key processes linked to cell growth and
survival such as cytoskeleton remodeling in response to extracellular stimuli, cell motility and adhesion,
receptor endocytosis, autophagy, DNA damage response and apoptosis. Coordinates actin remodeling through tyrosine
phosphorylation of proteins controlling cytoskeleton dynamics like WASF3 (involved in branch formation); ANXA1
(involved in membrane anchoring); DBN1, DBNL, CTTN, RAPH1 and ENAH (involved in signaling); or MAPT and PXN
(microtubule-binding proteins). Phosphorylation of WASF3 is critical for the stimulation of lamellipodia
formation and cell migration. Involved in the regulation of cell adhesion and motility through phosphorylation of
key regulators of these processes such as BCAR1, CRK, CRKL, DOK1, EFS or NEDD9. Phosphorylates multiple receptor
tyrosine kinases and more particularly promotes endocytosis of EGFR, facilitates the formation of neuromuscular
synapses through MUSK, inhibits PDGFRB-mediated chemotaxis and modulates the endocytosis of activated B-cell
receptor complexes. Other substrates which are involved in endocytosis regulation are the caveolin (CAV1) and
RIN1. Moreover, ABL1 regulates the CBL family of ubiquitin ligases that drive receptor down-regulation and actin
remodeling. Phosphorylation of CBL leads to increased EGFR stability. Involved in late-stage autophagy by
regulating positively the trafficking and function of lysosomal components. ABL1 targets to mitochondria in
response to oxidative stress and thereby mediates mitochondrial dysfunction and cell death. ABL1 is also
translocated in the nucleus where it has DNA-binding activity and is involved in DNA-damage response and
apoptosis. Many substrates are known mediators of DNA repair: DDB1, DDB2, ERCC3, ERCC6, RAD9A, RAD51, RAD52 or
WRN. Activates the proapoptotic pathway when the DNA damage is too severe to be repaired. Phosphorylates TP73, a
primary regulator for this type of damage-induced apoptosis. Phosphorylates the caspase CASP9 on 'Tyr-153' and
regulates its processing in the apoptotic response to DNA damage. Phosphorylates PSMA7 that leads to an
inhibition of proteasomal activity and cell cycle transition blocks. ABL1 acts also as a regulator of multiple
pathological signaling cascades during infection. Several known tyrosine-phosphorylated microbial proteins have
been identified as ABL1 substrates. This is the case of A36R of Vaccinia virus, Tir (translocated intimin
receptor) of pathogenic E.coli and possibly Citrobacter, CagA (cytotoxin-associated gene A) of H.pylori, or AnkA
(ankyrin repeat-containing protein A) of A.phagocytophilum. Pathogens can highjack ABL1 kinase signaling to
reorganize the host actin cytoskeleton for multiple purposes, like facilitating intracellular movement and host
cell exit. Finally, functions as its own regulator through autocatalytic activity as well as through
phosphorylation of its inhibitor, ABI1

summary for ABL1 Gene:
The Abl family of non-receptor tyrosine kinases includes c-Abl (Abelson tyrosine kinase) and Arg (Abl2)
subtypes. c-Abl is localized at several subcellular sites including the nucleus, cytoplasm, mitochondria and
endoplasmic reticulum, where it interacts with a large variety of cellular proteins including signaling
adaptors, kinases, phosphatases, cell cycle regulators, transcription factors and cytoskeletal proteins. Due
to its diverse range of targets, c-Abl has been implicated in many cellular processes including regulation
of cell growth and survival, oxidative stress and DNA-damage responses, and actin dynamics and cell
migration. The Abl family have significant structural homology to the Src tyrosine kinase family, but have a
unique long carboxy-terminal extension that contains protein-protein interaction sites and acts as the
binding site for targets such as ATM, p53 and pRb. c-Abl is medically important as there is a causal link
between the Abl-Bcr fusion protein (caused by a t(9,22) translocation) and development of chronic myeloid
leukemia.

Gene Wiki entry for ABL1 (Abl gene) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NC_018920.2  NT_008470.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the ABL1 gene promoter:
         NF-1   C/EBPbeta   STAT1   GATA-3   MyoD   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): ABL1 promoter sequence
   Search Chromatin IP Primers for ABL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ABL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q34.1   Ensembl cytogenetic band:  9q34.12   HGNC cytogenetic band: 9q34.1

ABL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABL1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P133589:  view genomic region     (about GC identifiers)

Start:
133,589,268 bp from pter      End:
133,763,062 bp from pter
Size:
173,795 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ABL1_HUMAN, P00519 (See protein sequence)
Recommended Name: Tyrosine-protein kinase ABL1  
Size: 1130 amino acids; 122873 Da
Cofactor: Magnesium or manganese
Subunit: Interacts with SORBS1 following insulin stimulation. Found in a trimolecular complex containing CDK5 and
CABLES1. Interacts with CABLES1 and PSTPIP1. Interacts with ZDHHC16, ITGB1 and HCK (By similarity). Interacts
with STX17; probably phosphorylates STX17. Interacts with INPPL1/SHIP2. Interacts with the 14-3-3 proteins,
YWHAB, YWHAE, YWHAG, YWHAH, SFN AND YWHAZ; the interaction with 14-3-3 proteins requires phosphorylation on
Thr-735 and, sequesters ABL1 into the cytoplasm. Interacts with ABI1, ABI2, BCR, CRK, FGR, FYN, HCK, LYN, PSMA7
RAD9A, RAD51, RAD52, TP73 and WASF3. A complex made of ABL1, CTTN and MYLK regulates cortical actin-based
cytoskeletal rearrangement critical to sphingosine 1-phosphate (S1P)-mediated endothelial cell (EC) barrier
enhancement. Interacts (via SH3 domain) with CASP9; the interaction is direct and increases in the response of
cells to genotoxic stress and ABL1/c-Abl activation
Selected PDB 3D structures from and Proteopedia for ABL1 (see all 45):
1AB2 (3D)        1ABL (3D)        1AWO (3D)        1BBZ (3D)        1JU5 (3D)        1OPL (3D)    
Secondary accessions: A3KFJ3 Q13869 Q13870 Q16133 Q17R61 Q45F09
Alternative splicing: 2 isoforms:  P00519-1   P00519-2   (Contains a N-myristoyl glycine at position 2)

Explore the universe of human proteins at neXtProt for ABL1: NX_P00519

Explore proteomics data for ABL1 at MOPED

Post-translational modifications: 

  • Acetylated at Lys-711 by EP300 which promotes the cytoplasmic translocation1
  • Phosphorylation at Tyr-70 by members of the SRC family of kinases disrupts SH3 domain-based autoinhibitory
    interactions and intermolecular associations, such as that with ABI1, and also enhances kinase activity.
    Phosphorylation at Tyr-226 and Tyr-393 correlate with increased activity. DNA damage-induced activation of ABL1
    requires the function of ATM and Ser-446 phosphorylation (By similarity). Phosphorylation at Ser-569 has been
    attributed to a CDC2-associated kinase and is coupled to cell division (By similarity). Phosphorylation at
    Ser-618 and Ser-619 by PAK2 increases binding to CRK and reduces binding to ABI1. Phosphorylation on Thr-735 is
    required for binding 14-3-3 proteins for cytoplasmic translocation. Phosphorylated by PRKDC (By similarity)1
  • Polyubiquitinated. Polyubiquitination of ABL1 leads to degradation1
  • Isoform IB is myristoylated on Gly-21
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ABL1 (P00519) (see all 19)
     RDLAARN  LFVALYD  LAYNKFS  ELVHHHS 


    See ABL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_005148.2  NP_009297.2  

    ENSEMBL proteins: 
     ENSP00000361423   ENSP00000376971   ENSP00000323315  
    Reactome Protein details: P00519

    ABL1 Human Recombinant Protein Products:

    EMD Millipore Purified and/or Recombinant ABL1 Protein
    Browse R&D Systems for human recombinant proteins
    Enzo Life Sciences proteins for ABL1
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for ABL1
    OriGene Custom MassSpec
    OriGene Custom Protein Services for ABL1
    GenScript Custom Purified and Recombinant Proteins Services for ABL1
    Novus Biologicals ABL1 Proteins
    Novus Biologicals ABL1 Lysates
    Sino Biological Recombinant Protein for ABL1
    Sino Biological Cell Lysate for ABL1
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ABL1

     
    Search eBioscience for Proteins for ABL1 

     
    antibodies-online proteins for ABL1 (3 products) 

     
    antibodies-online peptides for ABL1

    ABL1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ABL1
    R&D Systems Antibodies for ABL1 (c-Abl)
    Cell Signaling Technology (CST) Antibodies for ABL1  (Abl)
    OriGene Antibodies for ABL1
    OriGene Custom Antibody Services for ABL1
    Novus Biologicals ABL1 Antibodies
    Abcam antibodies for ABL1
    Cloud-Clone Corp. Antibodies for ABL1
    ThermoFisher Antibody for ABL1
    antibodies-online antibodies for ABL1 (522 products) 

    ABL1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ABL1
    Browse R&D Systems for biochemical assays
    GenScript ABL1-Activity-based Kinase Assay for Compound Screening
    Cell Signaling Technology (CST) Sandwich ELISA Kits for ABL1 (Abl)
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ABL1
    Cloud-Clone Corp. CLIAs for ABL1
    Search eBioscience for ELISAs for ABL1 
    antibodies-online kits for ABL1 (21 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SH2D: SH2 domain containing

    IUPHAR Guide to PHARMACOLOGY protein family classification: c-abl oncogene 1, non-receptor tyrosine kinase
    Abl family

    Selected InterPro protein domains (see all 9):
     IPR017441 Protein_kinase_ATP_BS
     IPR001245 Ser-Thr/Tyr_kinase_cat_dom
     IPR011009 Kinase-like_dom
     IPR015015 F-actin_binding
     IPR000980 SH2

    Graphical View of Domain Structure for InterPro Entry P00519

    ProtoNet protein and cluster: P00519

    3 Blocks protein domains:
    IPB000980 SH2 domain signature
    IPB001452 SH3 domain signature
    IPB008266 Tyrosine protein kinase


    UniProtKB/Swiss-Prot: ABL1_HUMAN, P00519
    Similarity: Belongs to the protein kinase superfamily. Tyr protein kinase family. ABL subfamily
    Similarity: Contains 1 protein kinase domain
    Similarity: Contains 1 SH2 domain
    Similarity: Contains 1 SH3 domain


    Find genes that share domains with ABL1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ABL1_HUMAN, P00519
    Function: Non-receptor tyrosine-protein kinase that plays a role in many key processes linked to cell growth and
    survival such as cytoskeleton remodeling in response to extracellular stimuli, cell motility and adhesion,
    receptor endocytosis, autophagy, DNA damage response and apoptosis. Coordinates actin remodeling through tyrosine
    phosphorylation of proteins controlling cytoskeleton dynamics like WASF3 (involved in branch formation); ANXA1
    (involved in membrane anchoring); DBN1, DBNL, CTTN, RAPH1 and ENAH (involved in signaling); or MAPT and PXN
    (microtubule-binding proteins). Phosphorylation of WASF3 is critical for the stimulation of lamellipodia
    formation and cell migration. Involved in the regulation of cell adhesion and motility through phosphorylation of
    key regulators of these processes such as BCAR1, CRK, CRKL, DOK1, EFS or NEDD9. Phosphorylates multiple receptor
    tyrosine kinases and more particularly promotes endocytosis of EGFR, facilitates the formation of neuromuscular
    synapses through MUSK, inhibits PDGFRB-mediated chemotaxis and modulates the endocytosis of activated B-cell
    receptor complexes. Other substrates which are involved in endocytosis regulation are the caveolin (CAV1) and
    RIN1. Moreover, ABL1 regulates the CBL family of ubiquitin ligases that drive receptor down-regulation and actin
    remodeling. Phosphorylation of CBL leads to increased EGFR stability. Involved in late-stage autophagy by
    regulating positively the trafficking and function of lysosomal components. ABL1 targets to mitochondria in
    response to oxidative stress and thereby mediates mitochondrial dysfunction and cell death. ABL1 is also
    translocated in the nucleus where it has DNA-binding activity and is involved in DNA-damage response and
    apoptosis. Many substrates are known mediators of DNA repair: DDB1, DDB2, ERCC3, ERCC6, RAD9A, RAD51, RAD52 or
    WRN. Activates the proapoptotic pathway when the DNA damage is too severe to be repaired. Phosphorylates TP73, a
    primary regulator for this type of damage-induced apoptosis. Phosphorylates the caspase CASP9 on 'Tyr-153' and
    regulates its processing in the apoptotic response to DNA damage. Phosphorylates PSMA7 that leads to an
    inhibition of proteasomal activity and cell cycle transition blocks. ABL1 acts also as a regulator of multiple
    pathological signaling cascades during infection. Several known tyrosine-phosphorylated microbial proteins have
    been identified as ABL1 substrates. This is the case of A36R of Vaccinia virus, Tir (translocated intimin
    receptor) of pathogenic E.coli and possibly Citrobacter, CagA (cytotoxin-associated gene A) of H.pylori, or AnkA
    (ankyrin repeat-containing protein A) of A.phagocytophilum. Pathogens can highjack ABL1 kinase signaling to
    reorganize the host actin cytoskeleton for multiple purposes, like facilitating intracellular movement and host
    cell exit. Finally, functions as its own regulator through autocatalytic activity as well as through
    phosphorylation of its inhibitor, ABI1
    Catalytic activity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate
    Enzyme regulation: Stabilized in the inactive form by an association between the SH3 domain and the SH2-TK linker
    region, interactions of the N-terminal cap, and contributions from an N-terminal myristoyl group and
    phospholipids. Activated by autophosphorylation as well as by SRC-family kinase-mediated phosphorylation.
    Activated by RIN1 binding to the SH2 and SH3 domains. Also stimulated by cell death inducers and DNA-damage.
    Phosphatidylinositol 4,5-bisphosphate (PIP2), a highly abundant phosphoinositide known to regulate cytoskeletal
    and membrane proteins, inhibits also the tyrosine kinase activity (By similarity). Inhibited by ABI1, whose
    activity is controlled by ABL1 itself through tyrosine phosphorylation. Also inhibited by imatinib mesylate
    (Gleevec) which is used for the treatment of chronic myeloid leukemia (CML), and by VX-680, an inhibitor that
    acts also on imatinib-resistant mutants

         Genatlas biochemistry entry for ABL1:
    Abelson murine leukemia viral (v-abl) oncogene homolog 1,nucleocytoplasmic shuttling protein,with a loss from the
    nucleus upon adhesion to fibronectin matrix,,activated by certain DNA-damaging agents from ionizing radiation to
    alkylating agents,promoting cell cycle arrest by blocking the G/S transition-in a TP53 dependent way,regulated by
    ATM,requiring mitogen-activated protein kinase kinase 6 activation (MAP2K6) for inducing apoptosis,activating
    TP73 in a mismatch repair dependent apoptosis pathway and MAP2K6 (for CABL induced apoptosis)

         Enzyme Numbers (IUBMB): EC 2.7.10.21 2 EC 2.7.102

         Gene Ontology (GO): Selected molecular function terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IDA9144171
    GO:0003677DNA binding NAS8242749
    GO:0003785actin monomer binding TAS--
    GO:0004515nicotinate-nucleotide adenylyltransferase activity TAS--
    GO:0004672protein kinase activity ----
         
    Find genes that share ontologies with ABL1           About GenesLikeMe


    Phenotypes:
         5 GenomeRNAi human phenotypes for ABL1:
     Decreased Salmonella enterica   Decreased circadian period len  Decreased focal adhesion (FA)   Decreased substrate adherent c 
     Increases Tamoxifen sensitivit 

         Selected MGI mutant phenotypes (inferred from 9 alleles(MGI details for Abl1) (see all 18):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
     liver/biliary system  mortality/aging  muscle  nervous system  normal 

    Find genes that share phenotypes with ABL1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for ABL1: Abl1tm1.1Gcos Abl1tm2.2Goff Abl1tm1Mlg Abl1m1

       genOway: Develop your customized and physiologically relevant rodent model for ABL1

    miRNA
    Products:
        
    miRTarBase miRNAs that target ABL1:
    hsa-mir-29a-3p (MIRT007197), hsa-mir-30a-5p (MIRT007359), hsa-mir-484 (MIRT042250), hsa-mir-125b-5p (MIRT046104), hsa-mir-149-5p (MIRT045402), hsa-let-7b-5p (MIRT051948), hsa-mir-203a (MIRT003032), hsa-mir-342-3p (MIRT043695)

    Block miRNA regulation of human, mouse, rat ABL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ABL1 (see all 21):
    hsa-miR-30c hsa-miR-125a-5p hsa-miR-30d hsa-miR-583 hsa-miR-3125 hsa-miR-3916 hsa-miR-30a hsa-miR-125b
    SwitchGear 3'UTR luciferase reporter plasmidABL1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ABL1
    Predesigned siRNA for gene silencing in human, mouse, rat ABL1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ABL1

    Clone
    Products:
         
    OriGene clones in human, mouse for ABL1 (see all 14)
    OriGene ORF clones in mouse, rat for ABL1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ABL1 (NM_005157)
    Sino Biological Human cDNA Clone for ABL1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ABL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABL1
    Addgene plasmids for ABL1 

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABL1

    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-10096 VA6-10828) for ABL1 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ABL1_HUMAN, P00519: Cytoplasm, cytoskeleton. Nucleus. Mitochondrion (By similarity). Note=Shuttles between the
    nucleus and cytoplasm depending on environmental signals. Sequestered into the cytoplasm through interaction with
    14-3-3 proteins. Localizes to mitochondria in response to oxidative stress (By similarity)
    ABL1_HUMAN, P00519: Isoform IB: Nucleus membrane; Lipid-anchor. Note=The myristoylated c-ABL protein is reported
    to be nuclear
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    cytosol4
    mitochondrion2
    plasma membrane2

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm TAS--
    GO:0005739mitochondrion IEA--
    GO:0005829cytosol TAS--

    Find genes that share ontologies with ABL1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ABL1 About   (see all 49)  
    See pathways by source

    SuperPathContained pathways About
    1Development Slit Robo signaling
    Development Slit Robo signaling0.92
    Pathogenic Escherichia coli infection0.43
    Cytoskeleton remodeling Slit Robo signaling0.92
    Pathogenic Escherichia coli infection0.41
    2Cell cycle
    Cell cycle0.59
    Cell cycle0.59
    3ErbB signaling pathway
    ErbB signaling pathway0.52
    ErbB signaling pathway0.52
    4Fcgamma receptor (FCGR) dependent phagocytosis
    Regulation of actin dynamics for phagocytic cup formation0.77
    Fcgamma receptor (FCGR) dependent phagocytosis0.77
    5L1CAM interactions
    Axon guidance0.63
    Developmental Biology0.63


    Find genes that share SuperPaths with ABL1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ABL1 (see all 10)
        G-Protein Signaling through Tubby Protein
    Telomerase Components in Cell Signaling
    Guidance Cues and Growth Cone Motility
    Molecular Mechanisms of Cancer
    CDK5 Pathway

    1 Cell Signaling Technology (CST) Pathway for ABL1
        Tyrosine Kinases / Adaptors

    5 GeneGo (Thomson Reuters) Pathways for ABL1
        Signal transduction Activation of PKC via G-Protein coupled receptor
    Development Slit-Robo signaling
    Transcription Transcription factor Tubby signaling pathways
    Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
    DNA damage DNA-damage-induced responses

    Selected BioSystems Pathways for ABL1 (see all 19)
        Cell cycle
    DNA damage response
    DNA damage response (only ATM dependent)
    ErbB signaling pathway
    miRNAs involved in DDR


    4 Reactome Pathways for ABL1
        Factors involved in megakaryocyte development and platelet production
    Role of Abl in Robo-Slit signaling
    Regulation of actin dynamics for phagocytic cup formation
    CDO in myogenesis

    1 PharmGKB Pathway for ABL1
        Imatinib Pathway, Pharmacokinetics/Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for ABL1) (see all 11):
        ErbB signaling pathway
    Ras signaling pathway
    Cell cycle
    Axon guidance
    Neurotrophin signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ABL1 (see all 12): 
              Oncogenes & Tumor Suppressor Genes in human mouse rat
              Leukemia in human mouse rat
              DNA Damage Signaling Pathway in human mouse rat
              Apoptosis in human mouse rat
              Notch Signaling Targets in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ABL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ABL1 (P005191, 2, 3 ENSP000003614234) via UniProtKB, MINT, STRING, and/or I2D (see all 455)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000227314O431961, 2, 3EBI-375543,EBI-6092730 MINT-7309811 MINT-7158451 MINT-7158702 MINT-7158714 MINT-7158402 MINT-7309724 MINT-7158255 MINT-7158347 MINT-7309863 MINT-7309845 I2D: score=1 
    ENSG00000230293O431961, 2, 3EBI-375543,EBI-6092730 MINT-7309811 MINT-7158451 MINT-7158702 MINT-7158714 MINT-7158402 MINT-7309724 MINT-7158255 MINT-7158347 MINT-7309863 MINT-7309845 I2D: score=1 
    ENSG00000230961O431961, 2, 3EBI-375543,EBI-6092730 MINT-7309811 MINT-7158451 MINT-7158702 MINT-7158714 MINT-7158402 MINT-7309724 MINT-7158255 MINT-7158347 MINT-7309863 MINT-7309845 I2D: score=1 
    ENSG00000235222O431961, 2, 3EBI-375543,EBI-6092730 MINT-7309811 MINT-7158451 MINT-7158702 MINT-7158714 MINT-7158402 MINT-7309724 MINT-7158255 MINT-7158347 MINT-7309863 MINT-7309845 I2D: score=1 
    MUC1P159411, 2, 3, ENSP000003389834EBI-375543,EBI-2804728 MINT-2880925 MINT-2881084 MINT-2881002 MINT-2881028 MINT-2880967 MINT-2881060 MINT-2880944 MINT-2881110 I2D: score=1 STRING: ENSP00000338983
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 30):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006298mismatch repair TAS10391249
    GO:0006355regulation of transcription, DNA-templated TAS8242749
    GO:0006464cellular protein modification process NAS8242749
    GO:0006468protein phosphorylation ----
    GO:0006914autophagy IEA--

    Find genes that share ontologies with ABL1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for ABL1
    Selected ApexBio Compounds for ABL1 (see all 13)     About this table
    CompoundAction CAS #
    1-Naphthyl PP1Selective inhibitor of src family kinases v-Src and c-Fyn as well as the tyrosine kinase c-Abl[221243-82-9]
    Adaphostinp210bcr/abl tyrosine kinase inhibitor[241127-58-2]
    Bosutinib (SKI-606)Dual inhibitor of Abl and Src kinases[380843-75-4]
    Dasatinib (anhydrous)small-molecule inhibitor of both Src and Bcr-Abl[302962-49-8]
    GNF 2Allosteric inhibitor of Bcr-Abl tyrosine kinase activity[778270-11-4]
    GNF 5Selective, non-ATP competitive allosteric inhibitor of Bcr-Abl[778277-15-9]
    Imatinib Mesylate (STI571)inhibits c-Abl protein-tyrosine kinase[220127-57-1]
    Nilotinib(AMN-107)inhibitor of BCR-ABL[641571-10-0]
    PD 180970ATP-competitive inhibitor of p210bcr/abl tyrosine kinase[287204-45-9]
    PD173955potent Bcr-Abl inhibitor[260415-63-2]

    Compounds for ABL1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    AP 24534Potent multi-kinase and pan-BCR-ABL inhibitor[943319-70-8]
    PD 180970p210bcr/abl kinase inhibitor; also inhibits c-Src and KIT[287204-45-9]
    Adaphostinp210bcr/abl kinase inhibitor[241127-58-2]
    PPY APotent inhibitor of Abl T315l mutant and wild-type Abl kinases[875634-01-8]
    GNF 2Selective allosteric inhibitor of Bcr-abl tyrosine kinase activity[778270-11-4]

    4 HMDB Compounds for ABL1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Manganesemanganese 7439-96-5--

    Selected DrugBank Compounds for ABL1 (see all 14)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    ImatinibCGP-57148B (see all 4)152459-95-5targetinhibitor16153117 15949566 16205964 15799618 15917650
    NilotinibAMN-107 (see all 2)641571-10-0targetinhibitor17715389 16721371 19920925 17929114 19822896
    Adenosine triphosphate5'-ATP (see all 8)56-65-5targetinhibitor17139284 11752352 17016423
    Dasatinib-- 302962-49-8targetmultitarget17701954 11752352 17016423
    1-[4-(PYRIDIN-4-YLOXY)PHENYL]-3-[3-(TRIFLUOROMETHYL)PHENYL]UREA-- --target--10592235
    2-amino-5-[3-(1-ethyl-1H-pyrazol-5-yl)-1H-pyrrolo[2,3-b]pyridin-5-yl]-N,N-dimethylbenzamide-- --target--10592235
    2-{[(6-OXO-1,6-DIHYDROPYRIDIN-3-YL)METHYL]AMINO}-N-[4-PROPYL-3-(TRIFLUOROMETHYL)PHENYL]BENZAMIDE-- --target--10592235
    5-[3-(2-METHOXYPHENYL)-1H-PYRROLO[2,3-B]PYRIDIN-5-YL]-N,N-DIMETHYLPYRIDINE-3-CARBOXAMIDE-- --target--10592235
    6-(2,6-DICHLOROPHENYL)-2-{[3-(HYDROXYMETHYL)PHENYL]AMINO}-8-METHYLPYRIDO[2,3-D]PYRIMIDIN-7(8H)-ONE-- --target--10592235
    MYRISTIC ACID-- --target--10592235

    Selected Novoseek inferred chemical compound relationships for ABL1 gene (see all 44)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    imatinib 91.7 281 18835981 (5), 20020482 (5), 16205964 (3), 15510830 (3) (see all 99)
    tyrosine 87.4 511 9988744 (4), 11279131 (4), 11781820 (4), 11494128 (4) (see all 99)
    dasatinib 78.7 22 17155893 (2), 19062342 (2), 18326784 (2), 16721371 (1) (see all 10)
    adaphostin 66.7 5 17308109 (2), 17252018 (1)
    phosphotyrosine 65.4 15 1712111 (3), 12654250 (2), 8912843 (1), 10708759 (1) (see all 12)
    rottlerin 40.4 6 11707430 (1), 20043988 (1), 10713049 (1), 16631755 (1)
    phosphatidylinositol 40.2 17 9295282 (4), 16867995 (3), 1846663 (2), 14555967 (1) (see all 11)
    threonine 34.4 5 8691423 (1), 10637231 (1), 11840343 (1), 8816443 (1) (see all 5)
    cytarabine 30.6 11 8900110 (3), 8530447 (2), 12021410 (2), 9365241 (1)
    herbimycin a 28.6 2 1564963 (1), 8510919 (1)

    7 PharmGKB related drug/compound annotations for ABL1 gene    About this table
    Drug/compound PharmGKB Annotation
    bosutinib monohydrate
    busulfan
    dasatinib
    homoharringtonine
    imatinib
    nilotinib
    ponatinib



    Find genes that share compounds with ABL1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

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    REFSEQ mRNAs for ABL1 gene (2 alternative transcripts): 
    NM_005157.4  NM_007313.2  

    Unigene Cluster for ABL1:

    C-abl oncogene 1, non-receptor tyrosine kinase
    Hs.431048  [show with all ESTs]
    Unigene Representative Sequence: NM_007313
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372348 ENST00000393293 ENST00000318560(uc004bzv.3 uc004bzw.3)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ABL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ABL1 (see all 21):
    hsa-miR-30c hsa-miR-125a-5p hsa-miR-30d hsa-miR-583 hsa-miR-3125 hsa-miR-3916 hsa-miR-30a hsa-miR-125b
    SwitchGear 3'UTR luciferase reporter plasmidABL1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ABL1
    Predesigned siRNA for gene silencing in human, mouse, rat ABL1
    Clone
    Products:
         
    OriGene clones in human, mouse for ABL1 (see all 14)
    OriGene ORF clones in mouse, rat for ABL1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ABL1 (NM_005157)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ABL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABL1
    Addgene plasmids for ABL1 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for ABL1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ABL1
      QuantiTect SYBR Green Assays in human, mouse, rat ABL1
      QuantiFast Probe-based Assays in human, mouse, rat ABL1
    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-10096 VA6-10828) for ABL1 

    Additional mRNA sequence: 

    AB209456.1 AB209642.1 AF533988.1 AK095344.1 AK294983.1 AM491359.1 AM491361.1 AY043457.1 
    AY789120.1 BC107069.1 BC107070.1 BC117451.1 DQ898314.1 EF158045.1 EF423615.1 EU447303.1 
    JF272500.1 JX565024.1 JX565025.1 M13096.1 M14752.1 M14753.1 M14754.1 M25946.1 
    M30833.1 X07537.1 X16416.1 X51945.1 

    16 DOTS entries:

    DT.75139099  DT.91761963  DT.121201653  DT.100033850  DT.40199015  DT.121201672  DT.121201747  DT.121201745 
    DT.97817099  DT.95079826  DT.95228147  DT.87017796  DT.91724158  DT.100734507  DT.121201744  DT.95129497 

    Selected AceView cDNA sequences (see all 43):

    AL707819 BX099890 CR598308 AK095344 BM832613 CR614023 AL134822 CA335983 
    AA687347 AI084206 H81821 X16416 AI025543 AA889856 BX097261 BQ772414 
    AW206835 NM_007313 BX953746 AI475681 M14753 M14752 BG955635 X51945 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ABL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGTACTGGT
    ABL1 Expression
    About this image


    ABL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Bone (Muscoskeletal System)
             Mandibular Condyle
    ABL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ABL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.431048

    UniProtKB/Swiss-Prot: ABL1_HUMAN, P00519
    Tissue specificity: Widely expressed

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ABL1 (see all 12): 
              Oncogenes & Tumor Suppressor Genes in human mouse rat
              Leukemia in human mouse rat
              DNA Damage Signaling Pathway in human mouse rat
              Apoptosis in human mouse rat
              Notch Signaling Targets in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for ABL1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ABL1
    QuantiTect SYBR Green Assays in human, mouse, rat ABL1
    QuantiFast Probe-based Assays in human, mouse, rat ABL1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABL1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for ABL1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abl11 , 5 c-abl oncogene 1, non-receptor tyrosine kinase1, 5 85.46(n)1
    89.09(a)1
      2 (21.86 cM)5
    113501  NM_001112703.21  NP_001106174.11 
     316883765 
    chicken
    (Gallus gallus)
    Aves ABL11 c-abl oncogene 1, non-receptor tyrosine kinase 78.3(n)
    84.16(a)
      417181  XM_001233811.3  XP_001233812.1 
    lizard
    (Anolis carolinensis)
    Reptilia ABL16
    c-abl oncogene 1, non-receptor tyrosine kinase
    78(a)
    1 ↔ 1
    GL344200.1(11938-58513)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.190662 Transcribed sequence with moderate similarity to protein more 82.67(n)    142002072 
    zebrafish
    (Danio rerio)
    Actinopterygii abl11 c-abl oncogene 1, receptor tyrosine kinase 70.24(n)
    75.63(a)
      100000720  XM_001337793.5  XP_001337829.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Abl3 axon guidance protein tyrosine kinase 74(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea abl-13 Src homology domain 2, Src homology
    domain 3, more
    55(a)
    (best of 20)
      X(10641430-10659377)   --


    ENSEMBL Gene Tree for ABL1 (if available)
    TreeFam Gene Tree for ABL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ABL1 gene
    FRK2  LCK2  BLK2  LYN2  FGR2  PTK62  YES12  HCK2  
    SRC2  FYN2  ABL22  SRMS2  
    Selected SIMAP similar genes for ABL1 using alignment to 10 protein entries:     ABL1_HUMAN (see all proteins) (see all similar genes):
    BCR-ABL1 e19a2    BCR/ABL fusion    BCR-ABL fusion    BCR-ABL1    FER    BTK kinase deficient isoform 2
    BTK kinase deficient isoform 6    FLT3    FES    NTRK3    TEK    YES1
    FYN    CCDC6-RETa    CCDC6-RETc    DDR1    EPHA3    EPHA4

    Find genes that share paralogs with ABL1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ABL1 (see all 4024)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0326764
    A lung large cell carcinoma sample4--see VAR_0326762 R G mis40--------
    VAR_0326774
    A melanoma sample4--see VAR_0326772 R K mis40--------
    rs1219134611,2
    Cpathogenic1133749808(+) GCCAGC/TACGGG 4 H Y mis10--------
    rs1219134481,2
    Cpathogenic1133749814(+) ACGGGA/GAGGTG 4 K E mis10--------
    rs1219134491,2
    Cpathogenic1133749815(+) CGGGGA/TGGTGT 4 E V mis10--------
    rs1219134591,2
    Cpathogenic1133759734(+) CATCAC/TTGAGT 4 T I mis10--------
    rs1219134571,2
    Cpathogenic1133759842(+) AGCCAC/TGGAGT 4 T M mis10--------
    rs356506991,2
    C,F--103194828(+) GACTCAA/-GAGCA 1 -- int15Minor allele frequency- -:0.06NS 184
    rs713893391,2
    C--133591460(+) TGTCC-/TTTTTTT
    TTTTTTTTTT
    TTTTT
    1 -- int11Minor allele frequency- TTTTTTTTTTTTTTTTT:0.00NA 2
    rs3684917831,2
    C--133597199(+) GTCAG-/TTTTTT 1 -- int10--------

    HapMap Linkage Disequilibrium report for ABL1 (133589268 - 133763062 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ABL1 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2739108CNV Deletion23290073
    nsv820967CNV Deletion20802225
    esv1117111CNV Deletion17803354
    esv2669083CNV Deletion23128226
    esv2674290CNV Deletion23128226
    esv32595CNV Loss17666407
    dgv8307n71CNV Loss21882294
    nsv893963CNV Loss21882294
    nsv6735CNV Loss18451855
    nsv831735CNV Loss17160897

    Selected Site Specific Mutation Identification with PCR Assays for ABL1 (see all 14):
    Cosmic IdAA Change
    12611p.E355G
    12648p.F311L
    12608p.M244V
    12573p.E255K
    12610p.Y253F
    Selected Site Specific Cancer Mutation PCR Panels containing ABL1 (see all 6):
    Tyrosine Kinases & Cell Signaling Pathways Panel 384HT
    Oncogene and Tumor Suppressor Panel 384HT
    Lymphoid Neoplasms
    Hematopoietic Neoplasms
    Cancer Comprehensive Panel 384HT
    SeqTarget long-range PCR primers for resequencing ABL1
    DNA2.0 Custom Variant and Variant Library Synthesis for ABL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 189980    OMIM disorders: --

    UniProtKB/Swiss-Prot: ABL1_HUMAN, P00519
  • Leukemia, chronic myeloid (CML) [MIM:608232]: A clonal myeloproliferative disorder of a pluripotent stem
    cell with a specific cytogenetic abnormality, the Philadelphia chromosome (Ph), involving myeloid, erythroid,
    megakaryocytic, B lymphoid, and sometimes T lymphoid cells, but not marrow fibroblasts. Note=The gene represented
    in this entry is involved in disease pathogenesis
  • Note=A chromosomal aberration involving ABL1 has been found in patients with chronic myeloid leukemia.
    Translocation t(9;22)(q34;q11) with BCR. The translocation produces a BCR-ABL found also in acute myeloid
    leukemia (AML) and acute lymphoblastic leukemia (ALL)

  • 11 diseases for ABL1:    
    About MalaCards
    leukemia, philadelphia chromosome-positive, resistant to imatinib    chronic myeloid leukemia    precursor t-cell acute lymphoblastic leukemia    philadelphia-negative chronic myeloid leukemia
    bone marrow cancer    acute biphenotypic leukemia    leukemia    leukemia, acute lymphoblastic 3
    myeloid leukemia    lymphoblastic leukemia    gastrointestinal stromal tumor

    2 diseases from the University of Copenhagen DISEASES database for ABL1:
    Leukemia     Bone marrow cancer

    Find genes that share disorders with ABL1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for ABL1 gene (see all 55)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myeloid leukemia chronic 91.9 112 18243808 (3), 2157692 (2), 16825513 (2), 7718887 (2) (see all 97)
    blast crisis 79.7 14 10822991 (2), 10190307 (2), 10498618 (2), 12759927 (2) (see all 7)
    leukemia 77.8 84 18257513 (3), 9341866 (3), 2163816 (2), 17959833 (2) (see all 67)
    lymphoblastic leukemia acute 70.4 12 8242587 (1), 8632666 (1), 11801308 (1), 15964830 (1) (see all 12)
    cml chronic phase 67.7 2 1736009 (1)
    myeloproliferative disorders 65.1 11 10490629 (2), 12767088 (1), 9490692 (1), 15616602 (1) (see all 8)
    minimal residual disease 62.2 1 16213363 (1)
    myeloproliferative neoplasm 59.2 4 18971950 (1), 19175693 (1)
    leukemogenesis 56.9 12 11387320 (2), 9790503 (1), 12887890 (1), 20082857 (1) (see all 7)
    gastrointestinal stromal tumor 54.4 4 15637141 (1), 15717993 (1), 15727903 (1), 18553235 (1)

    Genetic Association Database (GAD): ABL1
    Human Genome Epidemiology (HuGE) Navigator: ABL1 (19 documents)
    Tumor Gene Database (TGDB): ABL1

    Export disorders for ABL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ABL1 gene, integrated from 10 sources (see all 1241):
    (articles sorted by number of sources associating them with ABL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. JNK phosphorylation of 14-3-3 proteins regulates nuclear targeting of c-Abl in the apoptotic response to DNA damage. (PubMed id 15696159)1, 2, 9 Yoshida K.... Miki Y. (Nat. Cell Biol. 2005)
    2. c-Abl acetylation by histone acetyltransferases regulates its nuclear-cytoplasmic localization. (PubMed id 16648821)1, 2, 9 di Bari M.G.... Barila D. (EMBO Rep. 2006)
    3. Interaction of c-Abl and p73alpha and their collaboration to induce apoptosis. (PubMed id 10391250)1, 2, 9 Agami R.... Shaul Y. (Nature 1999)
    4. Sequence and analysis of the human ABL gene, the BCR gene, and regions involved in the Philadelphia chromosomal translocation. (PubMed id 7665185)1, 2, 9 Chissoe S.L.... Roe B.A. (Genomics 1995)
    5. Cbl-associated protein is tyrosine phosphorylated by c-Abl and c-Src kinases. (PubMed id 19891780)1, 2, 9 Fernow I.... Tikkanen R. (BMC Cell Biol. 2009)
    6. Phosphorylation of c-Abl by protein kinase Pak2 regulates differential binding of ABI2 and CRK. (PubMed id 18161990)1, 2, 9 Jung J.H.... Traugh J.A. (Biochemistry 2008)
    7. Interaction between c-Abl and Arg tyrosine kinases and proteasome subunit PSMA7 regulates proteasome degradation. (PubMed id 16678104)1, 2, 9 Liu X....Cao C. (Mol. Cell 2006)
    8. Role of interfacial water molecules in proline-rich ligand recognition by the Src homology 3 domain of Abl. (PubMed id 19906645)1, 2, 9 Palencia A....Luque I. (J. Biol. Chem. 2010)
    9. Cell cycle genes and ovarian cancer susceptibility: a tagSNP analysis. (PubMed id 19738611)1, 4, 9 Cunningham J.M....Goode E.L. (Br. J. Cancer 2009)
    10. c-Abl tyrosine kinase regulates caspase-9 autocleavage in the apoptotic response to DNA damage. (PubMed id 15657060)1, 2, 9 Raina D.... Kufe D. (J. Biol. Chem. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 25 HGNC: 76 AceView: ABL1 Ensembl:ENSG00000097007 euGenes: HUgn25
    ECgene: ABL1 Kegg: 25 H-InvDB: ABL1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ABL1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ABL1 Genetics and Cytogenetics in Oncology and Haematology
    CGP resequencing studieshttp://www.sanger.ac.uk/perl/genetics/CGP/cgp_viewer?action=gene&ln=ABL1
    NIEHS-SNPshttp://egp.gs.washington.edu/data/abl1/
    Wikipedia http://en.wikipedia.org/wiki/Abl_gene

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