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    ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase [ Homo sapiens (human) ]

    Gene ID: 25, updated on 18-Jul-2017
    Official Symbol
    ABL1provided by HGNC
    Official Full Name
    ABL proto-oncogene 1, non-receptor tyrosine kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:76
    See related
    Ensembl:ENSG00000097007 MIM:189980; Vega:OTTHUMG00000020813
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ABL; JTK7; p150; c-ABL; v-abl; c-ABL1; bcr/abl
    Summary
    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]
    Orthologs
    Location:
    9q34.12
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 9 NC_000009.12 (130713881..130887675)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (133588266..133763062)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene PR/SET domain 12 Neighboring gene exosome component 2 Neighboring gene ribosomal protein L37 pseudogene 17 Neighboring gene pyroglutamylated RFamide peptide Neighboring gene fibrinogen C domain containing 1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Downregulation of the Wave2 signaling complex (Tiam-1, Abl, Rac, IRSp53, Wave2, and Arp3) with siRNA reduces HIV-1 Env-mediated cell-cell fusion and virus-cell fusion PubMed
    Tat tat HIV-1 Tat-mediated inhibition of miR-196a leads to upregulation of p73 and c-ABL protein expression in cells PubMed
    tat HIV-1 Tat 47-59 peptide downregulates gene expression of c-abl oncogene 1, non-receptor tyrosine kinase (ABL1) in U-937 macrophages PubMed

    Go to the HIV-1, Human Interaction Database

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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    SH2 domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    SH3 domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    actin filament binding IEA
    Inferred from Electronic Annotation
    more info
     
    actin monomer binding TAS
    Traceable Author Statement
    more info
    PubMed 
    ephrin receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    magnesium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    manganese ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitogen-activated protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    nicotinate-nucleotide adenylyltransferase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    non-membrane spanning protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    non-membrane spanning protein tyrosine kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    phosphotyrosine residue binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    proline-rich region binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    proline-rich region binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein C-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase C binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein tyrosine kinase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein tyrosine kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein tyrosine kinase activity TAS
    Traceable Author Statement
    more info
     
    receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    syntaxin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    B cell proliferation involved in immune response IEA
    Inferred from Electronic Annotation
    more info
     
    B cell receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    B-1 B cell homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    Bergmann glial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    DNA damage induced protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Fc-gamma receptor signaling pathway involved in phagocytosis TAS
    Traceable Author Statement
    more info
     
    actin cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    actin filament branching IEA
    Inferred from Electronic Annotation
    more info
     
    activated T cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    activation of protein kinase C activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    alpha-beta T cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    cardiovascular system development IEA
    Inferred from Electronic Annotation
    more info
     
    catabolic autophagy IEA
    Inferred from Electronic Annotation
    more info
     
    cell cycle arrest TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular protein modification process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cellular response to DNA damage stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to dopamine TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to hydrogen peroxide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to oxidative stress TAS
    Traceable Author Statement
    more info
    PubMed 
    cerebellum morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    collateral sprouting IEA
    Inferred from Electronic Annotation
    more info
     
    epidermal growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    establishment of protein localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    innate immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    intrinsic apoptotic signaling pathway in response to DNA damage TAS
    Traceable Author Statement
    more info
    PubMed 
    microspike assembly IEA
    Inferred from Electronic Annotation
    more info
     
    mismatch repair TAS
    Traceable Author Statement
    more info
    PubMed 
    mitochondrial depolarization TAS
    Traceable Author Statement
    more info
    PubMed 
    mitotic cell cycle TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of BMP signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of ERK1 and ERK2 cascade IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of I-kappaB kinase/NF-kappaB signaling IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell-cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cellular senescence IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of endothelial cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of long-term synaptic potentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of phospholipase C activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of ubiquitin-protein transferase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    neural tube closure IEA
    Inferred from Electronic Annotation
    more info
     
    neuroepithelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    neuromuscular process controlling balance IEA
    Inferred from Electronic Annotation
    more info
     
    peptidyl-tyrosine autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptidyl-tyrosine autophosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    peptidyl-tyrosine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptidyl-tyrosine phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    peptidyl-tyrosine phosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    platelet-derived growth factor receptor-beta signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of ERK1 and ERK2 cascade IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of I-kappaB kinase/NF-kappaB signaling IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of Wnt signaling pathway, planar cell polarity pathway IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of actin filament binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cytosolic calcium ion concentration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of interferon-gamma secretion IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of interleukin-2 secretion IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of microtubule binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of muscle cell differentiation TAS
    Traceable Author Statement
    more info
     
    positive regulation of neuron death IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of osteoblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of oxidoreductase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of peptidyl-tyrosine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of release of sequestered calcium ion into cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of actin cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of actin cytoskeleton reorganization TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of axon extension IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of catabolic autophagy TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of cell adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of cell motility TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of cell proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of endocytosis TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of extracellular matrix organization IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of hematopoietic stem cell differentiation TAS
    Traceable Author Statement
    more info
     
    regulation of microtubule polymerization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of modification of synaptic structure ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of response to DNA damage stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of transcription, DNA-templated TAS
    Traceable Author Statement
    more info
    PubMed 
    response to oxidative stress IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    signal transduction in response to DNA damage IDA
    Inferred from Direct Assay
    more info
    PubMed 
    spleen development IEA
    Inferred from Electronic Annotation
    more info
     
    substrate adhesion-dependent cell spreading IEA
    Inferred from Electronic Annotation
    more info
     
    thymus development IEA
    Inferred from Electronic Annotation
    more info
     
    transitional one stage B cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    actin cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    cell leading edge IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    extrinsic component of cytoplasmic side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    mitochondrion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    neuronal cell body ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nuclear body IDA
    Inferred from Direct Assay
    more info
     
    nuclear membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    postsynapse TAS
    Traceable Author Statement
    more info
    PubMed 
    protein complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Preferred Names
    tyrosine-protein kinase ABL1
    Names
    Abelson tyrosine-protein kinase 1
    bcr/c-abl oncogene protein
    c-abl oncogene 1, receptor tyrosine kinase
    proto-oncogene c-Abl
    proto-oncogene tyrosine-protein kinase ABL1
    v-abl Abelson murine leukemia viral oncogene homolog 1
    NP_005148.2
    NP_009297.2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012034.1 RefSeqGene

      Range
      5001..178795
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005157.5NP_005148.2  tyrosine-protein kinase ABL1 isoform a

      See identical proteins and their annotated locations for NP_005148.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (a) includes an alternate 5' terminal exon (exon 1a instead of exon 1b), and it thus differs in the 5' UTR and 5' coding region, compared to variant b. The encoded isoform (a), which is localized in the nucleus, has a distinct N-terminus and is shorter than isoform b.
      Source sequence(s)
      AB209456, AI458416, AL161733, M14752, X16416
      Consensus CDS
      CCDS35166.1
      UniProtKB/Swiss-Prot
      P00519
      UniProtKB/TrEMBL
      A0A024R8E2, Q59FK4
      Related
      ENSP00000323315.5, OTTHUMP00000022375, ENST00000318560.5, OTTHUMT00000054684
      Conserved Domains (5) summary
      smart00808
      Location:10061130
      FABD; F-actin binding domain (FABD)
      cd09935
      Location:123216
      SH2_ABL; Src homology 2 (SH2) domain found in Abelson murine lymphosarcoma virus (ABL) proteins
      cd11850
      Location:65118
      SH3_Abl; Src homology 3 domain of the Protein Tyrosine Kinase, Abelson kinase
      cd05052
      Location:235497
      PTKc_Abl; Catalytic domain of the Protein Tyrosine Kinase, Abelson kinase
      pfam07714
      Location:242493
      Pkinase_Tyr; Protein tyrosine kinase
    2. NM_007313.2NP_009297.2  tyrosine-protein kinase ABL1 isoform b

      See identical proteins and their annotated locations for NP_009297.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (b), which includes exon 1b but not exon 1a, represents the longer transcript and encodes the longer isoform (b). This isoform contains an N-terminal glycine which could be myristylated, and it is thus thought to be directed to the plasma membrane.
      Source sequence(s)
      AA524892, AB209456, AL707819, CA335983
      Consensus CDS
      CCDS35165.1
      UniProtKB/Swiss-Prot
      P00519
      UniProtKB/TrEMBL
      Q59FK4
      Related
      ENSP00000361423.2, OTTHUMP00000022376, ENST00000372348.6, OTTHUMT00000054685
      Conserved Domains (5) summary
      smart00808
      Location:10251149
      FABD; F-actin binding domain (FABD)
      cd09935
      Location:142235
      SH2_ABL; Src homology 2 (SH2) domain found in Abelson murine lymphosarcoma virus (ABL) proteins
      cd11850
      Location:84137
      SH3_Abl; Src homology 3 domain of the Protein Tyrosine Kinase, Abelson kinase
      cd05052
      Location:254516
      PTKc_Abl; Catalytic domain of the Protein Tyrosine Kinase, Abelson kinase
      pfam07714
      Location:261512
      Pkinase_Tyr; Protein tyrosine kinase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p7 Primary Assembly

      Range
      130713881..130887675
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018920.2 Alternate CHM1_1.1

      Range
      133738310..133911675
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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