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ABL1 Gene

protein-coding   GIFtS: 74

GC09P133589
c-abl oncogene 1, receptor tyrosine kinase
(Previous name: v-abl Abelson murine leukemia viral oncogene homolog 1 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: ABL)
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Aliases &
Descriptions
for ABL1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

  User Feedback
Aliases & Descriptions
c-abl oncogene 1, receptor tyrosine kinase1 2     bcr/abl2
JTK71 2 3     tyrosine-protein kinase ABL12
p1501 2 3     v-abl2
v-abl Abelson murine leukemia viral oncogene homolog 11 2     proto-oncogene tyrosine-protein kinase ABL12
c-ABL1 2     bcr/c-abl oncogene protein2
Proto-oncogene c-Abl2 3     Abelson murine leukemia viral oncogene homolog 13
ABL2 3     EC 2.7.10.23

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

Search outside databases for aliases for ABL1 gene

Previous GC identifers: GC09P124604 GC09P125136 GC09P126943 GC09P128865 GC09P130619 GC09P132579

Summaries
for ABL1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

  User Feedback		 Entrez Gene summary for ABL1:
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)

UniProtKB/Swiss-Prot: ABL1_HUMAN, P00519
Function: Regulates cytoskeleton remodeling during cell differentiation, cell division and cell adhesion. Localizes to
dynamic actin structures, and phosphorylates CRK and CRKL, DOK1, and other proteins controlling cytoskeleton dynamics.
Regulates DNA repair potentially by activating the proapoptotic pathway when the DNA damage is too severe to be
repaired. Phosphorylates PSMA7 that leads to an inhibition of proteasomal activity and cell cycle transition blocks

"" summary for ABL1:
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)

Genomic Views
for ABL1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC and Ensembl (release 56), Regulatory elements and Epigenetics data according to SABiosciences)
About This Section

  User Feedback		 Regulatory elements:
"" SABiosciences Regulatory transcription factor binding sites in the ABL1 gene upstream (promoter) region "":
STAT5B   STAT3   GATA-2   STAT1   STAT1beta   STAT1alpha   GATA-1   GATA-3   MyoD   C/EBPbeta   

Epigenetics:
"" SABiosciences Methyl-Profiler DNA Methylation qPCR Primer Assays for ABL1:  ""
MePH13120-2A   

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)
""

GeneLoc gene densities for 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
RefSeq DNA sequence:
NC_000009.11  NT_035014.4  

Proteins
for ABL1 gene

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene, Novus Biologicals, and/or Sino Biological,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 May 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abnova, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

  User Feedback		 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 (By similarity). 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 PSMA7
Subcellular location: Cytoplasm, cytoskeleton. Nucleus. Note=Sequestered into the cytoplasm through interaction with
14-3-3 proteins
Subcellular location: Isoform IB: Nucleus membrane; Lipid-anchor. Note=The myristoylated c-ABL protein is reported to
be nuclear
PDB structures from "" and Proteopedia "" :
1AB2 (3D) ""    1ABL (3D) ""    1AWO (3D) ""    1BBZ (3D) ""    1JU5 (3D) ""    1OPL (3D) ""    1ZZP (3D) ""    2ABL (3D) ""    
2E2B (3D) ""    2F4J (3D) ""    2FO0 (3D) ""    2G1T (3D) ""    2G2F (3D) ""    2G2H (3D) ""    2G2I (3D) ""    2GQG (3D) ""    
2HIW (3D) ""    2HYY (3D) ""    2HZ0 (3D) ""    2HZ4 (3D) ""    2HZI (3D) ""    2O88 (3D) ""    2V7A (3D) ""    3CS9 (3D) ""    
3EG0 (3D) ""    3EG1 (3D) ""    3EG2 (3D) ""    3EG3 (3D) ""    3EGU (3D) ""    
Secondary accessions: A3KFJ3 Q13869 Q13870 Q16133 Q17R61 Q45F09
Alternative splicing: 2 isoforms:  P00519-1   P00519-2   

Post-translational modifications:

  • Phosphorylated by PRKDC (By similarity). DNA damage-induced activation of c-Abl requires the function of ATM and
    • Ser-446 phosphorylation. Isoform IB is myristoylated on Gly-2. Phosphorylation on Thr-735 is required for binding
    14-3-3 proteins for cytoplasmic translocation1
  • View phosphorylation sites using PhosphoSite2


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


    ENSEMBL proteins: 
    ENSP00000323315 ENSP00000361423 ENSP00000376971 ENSP00000407756 ENSP00000406308 ENSP00000400412 


    Human Recombinant Proteins 
    ""Millipore Purified and/or Recombinant ABL1 Protein
    ""Sigma-Aldrich CompoZr ZFN for ABL1
    "" Browse R&D Systems for human recombinant proteins
    ""Enzo Life Sciences proteins for ABL1
    ""Browse Abnova for HuPro® and/or Recombinant Proteins
    ""Browse Origene full length recombinant human proteins expressed in human HEK293 cells
    Novus Biologicals Lysates for ABL1
    ""Browse Sino Biological Recombinant Proteins  ""

    5/10 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 10 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus NAS8242749
    GO:0005730 nucleolus IDA12944467
    GO:0005737 cytoplasm IEA--
    GO:0005829 cytosol EXP10892742
    GO:0005856 cytoskeleton IEA--
    About this table

    "" ABL1 for ontologies           About GeneDecksing



    Antibodies for ABL1: 
    ""Millipore Mono- and Polyclonal Antibodies for the study of ABL1
    ""Sigma-Aldrich Antibody Arrays and Antibodies for ABL1
    ""R&D Systems Antibodies for ABL1 (c-Abl)
    ""Cell Signaling Technology (CST) Antibodies for ABL1  (Abl)
    ""Monoclonal and Polyclonal Antibodies from Abnova (ABL1)
    "" Origene Antibodies: ABL1 ""
    ""Novus Biologicals Antibodies for ABL1
    ""Epitomics antibodies for ABL1

    Assays for ABL1: 
    ""Millipore Kits and Assays for the Analysis of ABL1
    ""Browse ELISAs at Sigma-Aldrich
    "" Browse R&D Systems for biochemical assays
    ""Browse Enzo Life Sciences for kits & assays

    Protein Domains/
    Families
    for ABL1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

      User Feedback
    "" ABL1 for domains           About GeneDecksing

    5/11 InterPro domains/families (see all 11 ):
     IPR017441 Protein_kinase_ATP_BS
     IPR020685 Tyr_prot_kinase
     IPR020700 Tyr_kinase_non-rcpt_Abl
     IPR001245 Ser-Thr/Tyr-Pkinase
     IPR011009 Kinase-like_dom

    Graphical View of Domain Structure for InterPro Entry P00519

    ProtoNet protein and cluster: P00519

    3 Blocks protein families:
    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

    Gene Function
    for ABL1 gene

    (According to MGI May 08 2010, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, Abnova, siRNAs from Applied Biosystems, Sigma-Aldrich, Clones from Millipore, Sigma-Aldrich, OriGene, Sino Biological, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene.)
    About This Section

      User Feedback
    Inhib.
    RNA:    		""Millipore RNAi Products for the Analysis of ABL1 Gene knock-down
    ""Abnova Chimera RNAi Products for Gene knock-down (ABL1)
    "" Origene 29mer shRNA kits in GFP-retroviral vector (see all 2): ABL1
    Origene shRNA RFP (see all 2): ABL1
    Origene basic RS shRNA (see all 2): ABL1

    ""Applied Biosystems Silencer® siRNAs for ABL1
    ""Sigma-Aldrich siRNA Panels and siRNA for ABL1
    Sigma-Aldrich shRNA Panels and shRNA for ABL1
    Explore Sigma-Aldrich super-pooled esiRNAs
    Clones:""Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    ""Browse iPSC Reprogramming Factors at Sigma-Aldrich
    "" Origene GFP tagged cDNA clones in CMV expression vector (see all 2): ABL1
    Origene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): ABL1
    Origene untagged cDNA clones in CMV expression vector (see all 2): ABL1
    ""Sino Biological Human cDNA Clone for ABL1  ""

    UniProtKB/Swiss-Prot: ABL1_HUMAN, P00519
    Function: Regulates cytoskeleton remodeling during cell differentiation, cell division and cell adhesion. Localizes to
    dynamic actin structures, and phosphorylates CRK and CRKL, DOK1, and other proteins controlling cytoskeleton dynamics.
    Regulates DNA repair potentially by activating the proapoptotic pathway when the DNA damage is too severe to be
    repaired. Phosphorylates PSMA7 that leads to an inhibition of proteasomal activity and cell cycle transition blocks
    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 amino-terminal cap, and contributions from an amino-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. Inhibited by imatinib mesylate (Gleevec) which is used for the treatment of
    chronic myeloid leukemia (CML). Inhibited by VX-680, an inhibitor that acts also on imanitib-resistant mutants
    Enzyme Number (IUBMB): EC 2.7.10.2 

    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)

    5/13 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 13 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166 nucleotide binding IEA--
    GO:0000287 magnesium ion binding IDA9144171
    GO:0003677 DNA binding NAS8242749
    GO:0004672 protein kinase activity ----
    GO:0004674 protein serine/threonine kinase activity ----
    About this table

    "" ABL1 for ontologies           About GeneDecksing

    Animal Models: 15/19 MGI mutant phenotypes (inferred from 7 alleles"") (MGI details for Abl1) (see all 19 ):

    cardiovascular systemcellularcraniofacialdigestive/alimentaryembryogenesis
    growth/sizehematopoietic systemhomeostasis/metabolismimmune systemlethality-postnatal
    lethality-prenatal/perinatallife span-post-weaning/agingliver/biliary systemmusclenervous system

    "" ABL1 for phenotypes           About GeneDecksing

    Pathways & Interactions
    for ABL1 gene

    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, Applied Biosystems GeneAssist, KEGG and/or UniProtKB, (map by GeneGo),
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene).
    About This Section

      User Feedback
    "" ABL1 for pathways           About GeneDecksing

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

    5/21 "" Sigma-Aldrich "Your Favorite Gene" Pathways for  ABL1  (Your Favorite Gene powered by Ingenuity) (see all 21 )
      ""  Prostate Cancer Signaling
    ATM Signaling
    PDGF Signaling
    Pancreatic Adenocarcinoma Signaling
    Molecular Mechanisms of Cancer

    5/13 "" GeneAssist Pathways for ABL1 (see all 13 )
      ""  G-Protein Signaling through Tubby Protein
    CDK5 Pathway
    Inhibition of Ribosome Biogenesis by p14(ARF)
    Signaling by Slit
    ATM Pathway

    5 "" Cell Signaling Technology (CST) Pathways for ABL1: 
      ""  Cell Cycle Control: G2/M DNA Damage Checkpoint
    Translational Control: Regulation of eIF4E and p70 S6 Kinase
    B Cell Receptor Signaling
    Protein Acetylation
    Cell Cycle Control: G1/S Checkpoint

    5/8 "" Kegg Pathways  (Kegg details for ABL1) (see all 8 ):
      ""  hsa04012 ErbB signaling pathway
    hsa04110 Cell cycle
    hsa04360 Axon guidance
    hsa04722 Neurotrophin signaling pathway
    hsa05130 Pathogenic Escherichia coli infection

    "" SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ABL1

    5/252 Interacting proteins for ABL1 (ENSP000003614233 P005191, 2) via UniProtKB, MINT, and/or STRING (see all 252 ) ""
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABI1Q8IZP01, 2STRING: ENSP00000347555 EBI-375543,EBI-375446 MINT-3390323 MINT-7385805 MINT-7385753 MINT-7385822 MINT-7385733 MINT-3390262 MINT-7385781 EBI-375543,EBI-375446 MINT-3390323 MINT-7385805 MINT-7385753 MINT-7385822 MINT-7385733 MINT-3390262 MINT-7385781
    RIN1Q136711, 2STRING: ENSP00000310406 EBI-375543,EBI-366017 MINT-59466 MINT-59455 MINT-59454 EBI-375543,EBI-366017 MINT-59466 MINT-59455 MINT-59454
    MAP4K1Q929181, 2STRING: ENSP00000221409 EBI-375543,EBI-881 MINT-7243318 MINT-7244806 EBI-375543,EBI-881 MINT-7243318 MINT-7244806
    NCK1P163331, 2STRING: ENSP00000288986 EBI-375543,EBI-389883 MINT-7247638 MINT-7249642 EBI-375543,EBI-389883 MINT-7247638 MINT-7249642
    SRCP129311, 2STRING: ENSP00000362659 EBI-375543,EBI-621482 MINT-7245034 MINT-4508163 EBI-375543,EBI-621482 MINT-7245034 MINT-4508163
    About this table

    5/13 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 13 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000115 regulation of transcription involved in S-phase of mitotic cell cycle TAS8242749
    GO:0006298 mismatch repair TAS10391249
    GO:0006355 regulation of transcription, DNA-dependent TAS8242749
    GO:0006464 protein modification process NAS8242749
    GO:0006468 protein amino acid phosphorylation ----
    About this table

    "" ABL1 for ontologies           About GeneDecksing


    Drugs & Compounds
    for ABL1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

      User Feedback
    "" ABL1 for compounds           About GeneDecksing

    "" Browse drugs & compounds from Enzo Life Sciences
    ""Browse Small Molecules at Sigma-Aldrich

    "" Compounds for ABL1 available from Tocris Bioscience
    CompoundAction CAS number
    1-Naphthyl PP1Src family kinase inhibitor; also inhibits c-Abl[221243-82-9]
    About this table


    10/169 ""Novoseek chemical compound relationships for ABL1 gene (see all 169 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 100.00 664 16158058 (5), 9988744 (4), 9228069 (4), 8510937 (4) (see all 100)
    imatinib 100.00 268 18835981 (7), 20020482 (5), 16424036 (4), 15665113 (4) (see all 100)
    dasatinib 18.40 15 17155893 (3), 19062342 (2), 18326784 (2), 17684099 (2) (see all 10)
    phosphotyrosine 15.45 21 1712111 (3), 12654250 (3), 16611216 (2), 9926937 (1) (see all 16)
    nilotinib 15.06 11 19922818 (2), 18326784 (2), 20152788 (1), 20137125 (1) (see all 9)
    pd173955 10.39 4 12154025 (4)
    phosphatidylinositol 5.27 25 9295282 (4), 1846663 (4), 16867995 (3), 9461588 (1) (see all 17)
    adaphostin 5.10 3 17308109 (2), 17252018 (1)
    pristane 5.01 5 6202819 (3), 8014009 (2)
    [b-].[cr+2] 4.56 2 3118359 (2)
    About this table

    2 PharmGKB drug compound relationships for ABL1 gene
    Drug compound PharmGKB Relations PubMed IDs for articles supporting these relationships
    imatinibCO  PD  15758023
    imatinib mesylate 100mg capPD  GN  15243647
    About this table


    Transcripts
    for ABL1 gene

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 223 Homo sapiens; Apr 2 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Primers from OriGene and/or SABiosciences,
    Expression Assays from Applied Biosystems)
    About This Section

      User Feedback
    Inhib.
    RNA:    		""Millipore RNAi Products for the Analysis of ABL1 Gene knock-down
    ""Abnova Chimera RNAi Products for Gene knock-down (ABL1)
    ""Applied Biosystems Silencer® siRNAs:  NM_005157  NM_007313  
    "" Origene 29mer shRNA kits in GFP-retroviral vector (see all 2): ABL1
    Origene shRNA RFP (see all 2): ABL1
    Origene basic RS shRNA (see all 2): ABL1

    ""Sigma-Aldrich siRNA Panels and siRNA for ABL1
    Sigma-Aldrich shRNA Panels and shRNA for ABL1
    Explore Sigma-Aldrich super-pooled esiRNAs

    microRNA:""9 SABiosciences microRNAs that regulate ABL1: ""
    hsa-miR-30c hsa-miR-203 hsa-miR-29c hsa-miR-29a hsa-miR-30d hsa-miR-30a hsa-miR-30b hsa-miR-29b hsa-miR-30e
    Assays:  ""Applied Biosystems TaqMan® Gene Expression Assays:  
    NM_005157  NM_007313  


    Clones:"" Origene GFP tagged cDNA clones in CMV expression vector (see all 2): ABL1
    Origene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): ABL1
    Origene untagged cDNA clones in CMV expression vector (see all 2): ABL1
    Primers:"" Origene genome-wide validated SYBR primer pairs: ABL1
    ""SABiosciences RT2 qPCR Primer Assay for ABL1: PPH00087A ""

    REFSEQ mRNAs for ABL1 gene (2 alternative transcripts): 

    NM_005157.3  NM_007313.2  

    Additional cDNA 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 CR598308.1 CR614023.1 DQ898314.1 EF158045.1 
    EF423615.1 EU447303.1 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.40199015  DT.100033850  DT.121201672  DT.121201747  DT.121201745 
    DT.97817099  DT.95079826  DT.95228147  DT.87017796  DT.91724158  DT.100734507  DT.121201744  DT.95129497 

    24/43 AceView cDNA sequences (see all 43 ):

    BM832613 AK095344 BX099890 AL707819 CR598308 CR614023 AL134822 H81821 
    AW206835 NM_007313 X16416 BX097261 AA889856 AI084206 AA687347 BQ772414 
    CA335983 AI025543 M14752 AI475681 BG955635 NM_005157 BX953746 X51945 

    "" highest scoring ESTs for ABL1:

    T47234 X16416 AA115473 AA115607 AA227275 AA227276 AA296072 AA325255 AA335336 AA335349 

    Unigene Cluster for ABL1:

    C-abl oncogene 1, receptor tyrosine kinase
    Hs.431048  [show with all ESTs]
    Unigene Representative Sequence: NM_007313


    GeneLoc Exon Structure

    6 Ensembl transcripts including schematic representations:
    ENST00000318560  ENST00000372348  ENST00000393293  ENST00000438426  ENST00000426772  ENST00000444970  

    Expression
    for ABL1 gene

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 223 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems, Primers from OriGene and/or SABiosciences )
    About This Section

      User Feedback

    ABL1 expression in normal and diseased human tissues

    "" Applied Biosystems TaqMan ® Gene Expression Assays for ABL1

    1""  / 2""  / 3""

    9 probe-sets matching ABL1 gene

    Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    2041_i_at2, 3 U95-A 1 1.00 1.00 0.17 0.62 M14752 0.80 1.00 0.91 1
    2040_s_at2, 3 U95-A 1 1.00 1.00 -0.17 0.54 M14752 0.80 1.00 0.91 1
    1656_s_at2, 3 U95-A 1 1.00 1.00 0.77 0.46 U07563 0.20 0.50 0.38 1
    1636_g_at2, 3 U95-A 1 0.94 1.00 0.88 1.38 U07563 0.20 0.50 0.38 1
    1635_at2, 3 U95-A 1 0.94 1.00 0.82 1.17 U07563 0.20 0.50 0.38 1
    52316_s_at2, 3 U95-B 1 0.81 1.00 0.77 1.55 T47234 1.00 1.00 1.00 1
    39730_at2, 3 U95-A 1 0.75 1.00 0.88 1.32 X16416 1.00 1.00 1.00 1
    202123_s_at2, 3 U133-A 1 0.73 1.00 -- -- NM_005157 0.60 1.00 0.82 1
    202123_s_at2 U133Plus2 1 0.73 1.00 -- -- -- -- -- -- --
    About this table

    "" ABL1 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: AGGTACTGGT

    SOURCE GeneReport for Unigene cluster: Hs.431048

    Expression variation in blood from EXPOLDB for ABL1

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

    Primers:"" Origene genome-wide validated SYBR primer pairs: ABL1 ""
    ""SABiosciences RT2 qPCR Primer Assay for ABL1: PPH00087A ""

    Orthologs
    for ABL1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI May 08 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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    Orthologs for ABL1 gene from 5/10 species (see all 10 )
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 ABL11   -- c-abl oncogene 1, receptor tyrosine kinase 88.24(n)
    91.48(a)    		 491292  XM_548413.2  XP_548413.2 
    chimpanzee
    (Pan troglodytes)    		 ABL11   -- c-abl oncogene 1, receptor tyrosine kinase 99.54(n)
    99.91(a)    		 464802  XM_001166213.1  XP_001166213.1 
    cow
    (Bos taurus)    		 ABL11   -- c-abl oncogene 1, receptor tyrosine kinase 87.43(n)
    91.45(a)    		 540876  XM_613548.3  XP_613548.2 
    rat
    (Rattus norvegicus)    		 Abl11   -- c-abl oncogene 1, receptor tyrosine kinase 85.24(n)
    89.02(a)    		 311860  XM_001067860.1  XP_001067860.1 
    mouse
    (Mus musculus)    		 Abl11, 5 2 (21.00 cM)5
    		 c-abl oncogene 1, receptor tyrosine kinase1, 5 84.81(n)1
    88.38(a)1    		 113501  NM_009594.21  NP_033724.11 
     AI3250925  AK0378875  (see all 45)
    About this table        Species with no ortholog for ABL1

    ENSEMBL Gene Tree for ABL1

    Paralogs
    for ABL1 gene

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
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    Paralogs for ABL1 gene
    TEC2  FRK2  LCK2  BLK2  LYN2  ITK2  FGR2  PTK62  
    YES12  HCK2  TXK2  SRC2  FYN2  BMX2  ABL22  SRMS2  
    BTK2  

    "" ABL1 for paralogs           About GeneDecksing


    Genomic Variants
    for ABL1 gene

    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Genotyping Reagents from Applied Biosystems)
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    10/1728 NCBI SNPs in ABL1 are shown (see all 1728 )
    (Click "" for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 485)
    ABGenomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 9 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    ""
    rs97621,2
    		C,F,A,H133762553(+) TTCCCA/GCCCCT 2 -- ut31 ese3""7Minor allele frequency- G:0.35NS NA 194""
    ""
    rs30880111,2
    		C,F,A,H133761992(-) CAGACC/GTGCCT 2 -- ut31 ese3""9Minor allele frequency- G:0.11MN NS NA EA WA 582""
    ""
    rs74571,2
    		C,F,O,A133762826(+) GTTAAC/TGTGAT 2 -- ut31""18Minor allele frequency- T:0.30MN NS EA NA WA 1428""
    ""
    rs29879021,2
    		C,F,A,H133710246(+) GGAATA/TTGCAT 2 -- ng51 int1""7Minor allele frequency- T:0.20NS EA NA WA 628""
    ""
    rs342221881,2
    		C,F,H103075054(+) CCGGGT/ACCCCT 1 -- ng51""5Minor allele frequency- A:0.02NS 186""
    ""
    rs22614681,2
    		C,F,A103195247(-) TGGGAA/GGCGCT 2 -- int1 ng51""14Minor allele frequency- G:0.20NS EA NA WA 820""
    ""
    rs10562091,2
    		C,F,O133762590(+) GCACAG/AGCCCT 2 -- ut31 ese3""13Minor allele frequency- A:0.09MN NS EA NA 864""
    --
    rs70382981,2
    		C,F,H103074381(+) actccC/Ggacct 1 -- ng51 tfbs3""5Minor allele frequency- G:0.07NS 188""
    ""
    rs28551911,2
    		C,F,A103194815(+) TAAGAT/CCATTT 2 -- ng51 int1""12Minor allele frequency- C:0.21NS EA NA WA 728""
    ""
    rs119911,2
    		C,F,A133762558(+) ACCCCT/CTCATA 2 -- ut31 ese3""15Minor allele frequency- C:0.32MN NS EA NA WA 1100""
    About this table

    HapMap Linkage Disequilibrium images for ABL1 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)  ""
    Database of Genomic Variants (DGV): 13 variations for ABL1
         7 CNVs: 3782 96316 83198 96318 7726 83199 96320
         6 Indels: 96319 96317 96321 29063 65533 83200

    Disorders & Mutations
    for ABL1 gene

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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    "" ABL1 for disorders           About GeneDecksing

    OMIM: 189980

    UniProtKB/Swiss-Prot: ABL1_HUMAN, P00519

  • A chromosomal aberration involving ABL1 is a cause of chronic myeloid leukemia (CML) [MIM:608232].
    • 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)

    10/195 ""Novoseek disease relationships for ABL1 gene (see all 195 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    chronic myeloid leukemia 100.00 411 3856862 (6), 2157692 (5), 10498618 (5), 9739013 (4) (see all 100)
    philadelphia chromosome 100.00 92 8853030 (3), 8697423 (2), 6580644 (2), 3480009 (2) (see all 81)
    gene fusion 100.00 96 19099642 (5), 2827888 (4), 2267134 (3), 17927873 (3) (see all 65)
    leukemia 54.99 134 3129652 (3), 19541823 (3), 18257513 (3), 15678915 (3) (see all 100)
    genotoxic stress 35.91 25 9916993 (2), 10866655 (2), 10498618 (2), 10022809 (2) (see all 21)
    blast crisis 31.37 29 2885048 (3), 10190307 (3), 8795691 (2), 2223647 (2) (see all 19)
    ph- cml 23.14 13 12759927 (4), 3474057 (2), 8501975 (1), 7697634 (1) (see all 9)
    derivative chromosome 18.41 13 16616113 (3), 12759927 (3), 12835719 (2), 9341866 (1) (see all 8)
    acute lymphoblastic leukemia 18.20 51 2163816 (4), 8242587 (3), 17496935 (3), 3543692 (2) (see all 37)
    t-all 12.45 16 17488685 (5), 15713800 (4), 16213363 (3), 18401417 (1) (see all 7)
    About this table

    3 PharmGKB disease relationships for ABL1 gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Diabetes Mellitus, Non-Insulin-DependentCO  PD  15758023
    Leukemia, Lymphocytic, Acute, L1FA  GN  12086872 12730115
    Leukemia, Myeloid, ChronicPD  GN  15243647
    About this table

    Genetic Association Database: ABL1
    Human Genome Epidemiology Navigator: ABL1 (11 documents)
    Tumor Gene Database: ABL1

    Medical News
    for ABL1 gene

    (Possibly Related Articles in Doctor's Guide)
    About This Section

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    Publications
    for ABL1 gene

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

      User Feedback    		10/1054 PubMed articles for ABL1 gene (see all 1054 ):

    Search for ABL1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ABL1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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      User Feedback
    Entrez Gene: 25 HGNC: 76 AceView: ABL1 Ensembl:ENSG00000097007 euGenes: HUgn25
    ECgene: ABL1 Kegg: 25 H-InvDB: ABL1

    Other Databases showing ABL1 gene

    (According to HUGE)
    About This Section

      User Feedback    		   --

    Specialized Databases showing ABL1 gene

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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    NameDescription
    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

    Intellectual Property
    for ABL1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section

      User Feedback    		Patent Information for ABL1 gene: ""
    Search GeneIP for patents involving ABL1

    GeneCards and IP: ""
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search


    Services
    for ABL1 gene

    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Novus Biologicals,
    Epitomics, Sigma-Aldrich, R&D Systems, SABiosciences, Millipore, Abnova,
    Clones available from OriGene, Sigma-Aldrich, Sino Biological, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience)
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    ""
    Products for ABL1:
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    """"""""
    "" Antibodies & Assays for ABL1  (Abl)

    "" Tagged/untagged cDNA clones
    "" Validated SYBR primer pairs
    "" Purified proteins from HEK293T cells
    "" Western blot validated antibodies
    "" shRNA in GFP-retroviral vector
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    "" Regulatory tfbs in ABL1 upstream (promoter) region
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