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Aliases for ABL1 Gene

Aliases for ABL1 Gene

  • ABL Proto-Oncogene 1, Non-Receptor Tyrosine Kinase 2 3 5
  • V-Abl Abelson Murine Leukemia Viral Oncogene Homolog 1 2 3
  • C-Abl Oncogene 1, Receptor Tyrosine Kinase 2 3
  • Abelson Tyrosine-Protein Kinase 1 3 4
  • Proto-Oncogene C-Abl 3 4
  • EC 2.7.10.2 4 63
  • JTK7 3 4
  • P150 3 4
  • ABL 3 4
  • Abelson Murine Leukemia Viral Oncogene Homolog 1 4
  • C-Abl Oncogene 1, Non-Receptor Tyrosine Kinase 2
  • Proto-Oncogene Tyrosine-Protein Kinase ABL1 3
  • Bcr/C-Abl Oncogene Protein 3
  • EC 2.7.10 63
  • Bcr/Abl 3
  • C-ABL1 3
  • C-ABL 3
  • V-Abl 3

External Ids for ABL1 Gene

Previous HGNC Symbols for ABL1 Gene

  • ABL

Previous GeneCards Identifiers for ABL1 Gene

  • GC09P124604
  • GC09P125136
  • GC09P126943
  • GC09P128865
  • GC09P130619
  • GC09P132579
  • GC09P133589
  • GC09P103075

Summaries for ABL1 Gene

Entrez Gene Summary for ABL1 Gene

  • This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons. [provided by RefSeq, Aug 2014]

GeneCards Summary for ABL1 Gene

ABL1 (ABL Proto-Oncogene 1, Non-Receptor Tyrosine Kinase) is a Protein Coding gene. Diseases associated with ABL1 include Martsolf Syndrome and Warburg Micro Syndrome 2. Among its related pathways are Axon guidance and Regulation of actin dynamics for phagocytic cup formation. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is ABL2.

UniProtKB/Swiss-Prot for ABL1 Gene

  • 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.

Tocris 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 many subcellular sites including the nucleus, cytoplasm, mitochondria and endoplasmic reticulum, where it interacts with several proteins.

Gene Wiki entry for ABL1 Gene

PharmGKB "VIP" Summary for ABL1 Gene

No data available for fRNAdb sequence ontologies and piRNA Summary for ABL1 Gene

Genomics for ABL1 Gene

Regulatory Elements for ABL1 Gene

Enhancers for ABL1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ABL1 on UCSC Golden Path with GeneCards custom track

Promoters for ABL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ABL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ABL1 Gene

Chromosome:
9
Start:
130,713,881 bp from pter
End:
130,887,675 bp from pter
Size:
173,795 bases
Orientation:
Plus strand

Genomic View for ABL1 Gene

Genes around ABL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABL1 Gene

Proteins for ABL1 Gene

  • Protein details for ABL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00519-ABL1_HUMAN
    Recommended name:
    Tyrosine-protein kinase ABL1
    Protein Accession:
    P00519
    Secondary Accessions:
    • A3KFJ3
    • Q13869
    • Q13870
    • Q16133
    • Q17R61
    • Q45F09

    Protein attributes for ABL1 Gene

    Size:
    1130 amino acids
    Molecular mass:
    122873 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • 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. Found in a complex with ABL1, ABL2, CRK and UNC119; leading to the inhibition of CRK phosphorylation by ABL kinases.

    Three dimensional structures from OCA and Proteopedia for ABL1 Gene

    Alternative splice isoforms for ABL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABL1 Gene

Proteomics data for ABL1 Gene at MOPED

Post-translational modifications for ABL1 Gene

  • Acetylated at Lys-711 by EP300 which promotes the cytoplasmic translocation.
  • 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).
  • Polyubiquitinated. Polyubiquitination of ABL1 leads to degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ABL1 Gene

Domains & Families for ABL1 Gene

Suggested Antigen Peptide Sequences for ABL1 Gene

Graphical View of Domain Structure for InterPro Entry

P00519

UniProtKB/Swiss-Prot:

ABL1_HUMAN :
  • Contains 1 protein kinase domain.
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. ABL subfamily.
Domain:
  • Contains 1 protein kinase domain.
  • Contains 1 SH2 domain.
  • Contains 1 SH3 domain.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. ABL subfamily.
genes like me logo Genes that share domains with ABL1: view

Function for ABL1 Gene

Molecular function for ABL1 Gene

GENATLAS Biochemistry:
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)
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
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.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for ABL1 Gene

Gene Ontology (GO) - Molecular Function for ABL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004713 protein tyrosine kinase activity IEA,TAS --
GO:0051015 actin filament binding IEA --
genes like me logo Genes that share ontologies with ABL1: view
genes like me logo Genes that share phenotypes with ABL1: view

Human Phenotype Ontology for ABL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ABL1 Gene

MGI Knock Outs for ABL1:

Animal Model Products

No data available for Transcription Factor Targets and HOMER Transcription for ABL1 Gene

Localization for ABL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABL1 Gene

Cytoplasm, cytoskeleton. Nucleus. Mitochondrion. 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). {ECO:0000250}.
Isoform IB: Nucleus membrane; Lipid-anchor. Note=The myristoylated c-ABL protein is reported to be nuclear.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ABL1 Gene COMPARTMENTS Subcellular localization image for ABL1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
mitochondrion 5
nucleus 5
plasma membrane 4

Gene Ontology (GO) - Cellular Components for ABL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0031965 nuclear membrane IEA --
genes like me logo Genes that share ontologies with ABL1: view

Pathways & Interactions for ABL1 Gene

genes like me logo Genes that share pathways with ABL1: view

Gene Ontology (GO) - Biological Process for ABL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001922 B-1 B cell homeostasis IEA --
GO:0002322 B cell proliferation involved in immune response IEA --
GO:0006281 DNA repair TAS --
GO:0006298 mismatch repair TAS 10391249
GO:0006302 double-strand break repair TAS --
genes like me logo Genes that share ontologies with ABL1: view

Drugs & Compounds for ABL1 Gene

(68) Drugs for ABL1 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, FDA Approved Drugs, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dasatinib Approved, Investigational Pharma Inhibition, inhibitor, Target, multitarget Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 271
bosutinib Approved Pharma inhibitor, Target Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors, Dual Src-Abl inhibitor; antiproliferative 0
Nilotinib Approved, Investigational Pharma Inhibition, inhibitor, Target Kinase Inhibitors 0
imatinib Approved Pharma inhibitor, Target Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 0
ponatinib Approved Pharma inhibitor, Target Kinase Inhibitors, Fibroblast growth factor receptor (FGFR)inhibitors 30

(25) Additional Compounds for ABL1 Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Adaphostin
241127-58-2
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
N-desmethylimatinib
  • CGP74588
1-Naphthyl PP1
221243-82-9
AP 24534
943319-70-8

(5) Tocris Compounds for ABL1 Gene

Compound Action Cas Number
1-Naphthyl PP1 Src family kinase inhibitor; also inhibits c-Abl 221243-82-9
Adaphostin p210bcr/abl kinase inhibitor 241127-58-2
AP 24534 Potent multi-kinase and pan-Bcr-Abl inhibitor 943319-70-8
Bosutinib Dual Src-Abl inhibitor; antiproliferative 380843-75-4
GNF 2 Selective allosteric inhibitor of Bcr-Abl tyrosine kinase activity 778270-11-4

(13) ApexBio Compounds for ABL1 Gene

Compound Action Cas Number
AT9283 Aurora kinase/JAK inhibitor 896466-04-9
Bafetinib (INNO-406) Bcr-Abl/Lyn tyrosine kinase inhibitor 887650-05-7
Bosutinib (SKI-606) Potent Abl/Src kinases 380843-75-4
Dasatinib (BMS-354825) Src and BCR-Abl inhibitor 302962-49-8
DCC-2036 (Rebastinib) Bcr-Abl inhibitor 1020172-07-9
GNF 2 Bcr-Abl inhibitor 778270-11-4
GNF 5 Bcr-Abl inhibitor 778277-15-9
GZD824 Bcr-Abl inhibitor,novel orally bioavailable 1421783-64-3
Imatinib Mesylate (STI571) Abl/c-kit/PDGFR inhibitor 220127-57-1
Nilotinib(AMN-107) Bcr-Abl kinase inhibitor,selective 641571-10-0
PD173955 Dual Src/Abl kinase inhibitor, ATP-competitive, 260415-63-2
Ponatinib (AP24534) pan-BCR-ABL inhibitor,multi-kinase inhibitor 943319-70-8
Saracatinib (AZD0530) Src/Abl inhibitor,potent and selective 379231-04-6
genes like me logo Genes that share compounds with ABL1: view

Drug Products

Transcripts for ABL1 Gene

mRNA/cDNA for ABL1 Gene

Unigene Clusters for ABL1 Gene

C-abl oncogene 1, non-receptor tyrosine kinase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ABL1 Gene

No ASD Table

Relevant External Links for ABL1 Gene

GeneLoc Exon Structure for
ABL1
ECgene alternative splicing isoforms for
ABL1

Expression for ABL1 Gene

mRNA expression in normal human tissues for ABL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ABL1 Gene

This gene is overexpressed in Testis (17.7), Ovary (12.9), CD8 Tcells (7.3), and Pancreas (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ABL1 Gene



SOURCE GeneReport for Unigene cluster for ABL1 Gene Hs.431048

mRNA Expression by UniProt/SwissProt for ABL1 Gene

P00519-ABL1_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with ABL1: view

Protein tissue co-expression partners for ABL1 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for ABL1 Gene

Orthologs for ABL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ABL1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ABL1 35
  • 87.43 (n)
  • 91.45 (a)
ABL1 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABL1 35
  • 88.36 (n)
  • 91.64 (a)
ABL1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abl1 35
  • 85.46 (n)
  • 89.09 (a)
Abl1 16
Abl1 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ABL1 35
  • 99.48 (n)
  • 99.74 (a)
ABL1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abl1 35
  • 85.09 (n)
  • 88.75 (a)
oppossum
(Monodelphis domestica)
Mammalia ABL1 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABL1 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABL1 35
  • 78.3 (n)
  • 84.16 (a)
ABL 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABL1 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abl1 35
  • 71.66 (n)
  • 75.38 (a)
Str.19066 35
zebrafish
(Danio rerio)
Actinopterygii abl1 35
  • 70.24 (n)
  • 75.63 (a)
abl1 36
  • 72 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Abl 37
  • 74 (a)
Abl 36
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea abl-1 37
  • 55 (a)
C25A8.5 37
  • 32 (a)
F23C8.7 37
  • 31 (a)
F57B9.8 37
  • 30 (a)
K09B11.5 37
  • 28 (a)
kin-26 37
  • 30 (a)
kin-9 37
  • 35 (a)
R11E3.1 37
  • 37 (a)
spe-8 37
  • 30 (a)
T14E8.1a 37
  • 32 (a)
T14E8.1b 37
  • 34 (a)
T21G5.1 37
  • 36 (a)
T25B9.4 37
  • 30 (a)
T25B9.5 37
  • 29 (a)
W02A2.4 37
  • 28 (a)
Y38H6C.20 37
  • 31 (a)
Y50D4B.6 37
  • 35 (a)
Y52D5A.2 37
  • 26 (a)
Y69E1A.3 37
  • 29 (a)
ZK593.9 37
  • 28 (a)
abl-1 36
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 62 (a)
OneToMany
Species with no ortholog for ABL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ABL1 Gene

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

Paralogs for ABL1 Gene

Paralogs for ABL1 Gene

genes like me logo Genes that share paralogs with ABL1: view

Variants for ABL1 Gene

Sequence variations from dbSNP and Humsavar for ABL1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs34634745 - 130,884,407(+) GGGCG(G/T)TGGCA reference, missense
VAR_025044 -
rs35266696 - 130,884,988(+) CCCCG(C/T)CGCCC reference, missense
rs2229067 - 130,885,205(+) GCCGT(C/T)GGGGA reference, missense
VAR_032676 A lung large cell carcinoma sample

Structural Variations from Database of Genomic Variants (DGV) for ABL1 Gene

Variant ID Type Subtype PubMed ID
nsv831735 CNV Loss 17160897
esv32595 CNV Loss 17666407
esv2669083 CNV Deletion 23128226
esv2739108 CNV Deletion 23290073
esv1117111 CNV Deletion 17803354
dgv2423e1 CNV Complex 17122850
esv2674290 CNV Deletion 23128226
esv24869 CNV Gain+Loss 19812545
nsv820967 CNV Deletion 20802225
nsv6735 CNV Loss 18451855
nsv893960 CNV Gain 21882294
dgv8306n71 CNV Loss 21882294
dgv8307n71 CNV Loss 21882294
nsv893963 CNV Loss 21882294

Variation tolerance for ABL1 Gene

Residual Variation Intolerance Score: 4.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.80; 47.50% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for ABL1 Gene

Disorders for ABL1 Gene

MalaCards: The human disease database

(20) MalaCards diseases for ABL1 Gene - From: OMIM, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
martsolf syndrome
  • cataract mental retardation hypogonadism
warburg micro syndrome 2
  • micro syndrome 2
leukemia, chronic myeloid, somatic
  • chronic myeloid leukemia
precursor b-cell acute lymphoblastic leukemia
  • b-all
abl1 kd-related altered drug metabolism
- elite association - COSMIC cancer census association via MalaCards
Search ABL1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ABL1_HUMAN
  • 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).

Relevant External Links for ABL1

Genetic Association Database (GAD)
ABL1
Human Genome Epidemiology (HuGE) Navigator
ABL1
Tumor Gene Database (TGDB):
ABL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABL1
genes like me logo Genes that share disorders with ABL1: view

No data available for Genatlas for ABL1 Gene

Publications for ABL1 Gene

  1. JNK phosphorylation of 14-3-3 proteins regulates nuclear targeting of c-Abl in the apoptotic response to DNA damage. (PMID: 15696159) Yoshida K. … Miki Y. (Nat. Cell Biol. 2005) 3 4 23 67
  2. Immunohistochemical analysis of platelet-derived growth factor receptor-alpha, -beta, c-kit, c-abl, and arg proteins in glioblastoma: possible implications for patient selection for imatinib mesylate therapy. (PMID: 16205964) Haberler C. … Hainfellner J.A. (J. Neurooncol. 2006) 23 25 26
  3. AMN107 (nilotinib): a novel and selective inhibitor of BCR-ABL. (PMID: 16721371) Weisberg E. … Griffin J.D. (Br. J. Cancer 2006) 23 25 26
  4. Protein-acrylamide copolymer hydrogels for array-based detection of tyrosine kinase activity from cell lysates. (PMID: 16153117) Brueggemeier S.B. … Palecek S.P. (Biomacromolecules 2005) 23 25 26
  5. mTOR inhibitor RAD001 (Everolimus) enhances the effects of imatinib in chronic myeloid leukemia by raising the nuclear expression of c-ABL protein. (PMID: 19643477) Mancini M. … Santucci M.A. (Leuk. Res. 2010) 3 23

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