Format

Send to:

Choose Destination

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

Gene ID: 25, updated on 1-Aug-2020

Summary

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
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; CHDSKM; c-ABL1; BCR-ABL; 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]
Expression
Ubiquitous expression in endometrium (RPKM 24.7), gall bladder (RPKM 20.6) and 25 other tissues See more
Orthologs

Genomic context

See ABL1 in Genome Data Viewer
Location:
9q34.12
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 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 VISTA enhancer hs876 Neighboring gene PR/SET domain 12 Neighboring gene ABL breakpoint recombination region Neighboring gene exosome component 2 Neighboring gene ribosomal protein L37 pseudogene 17 Neighboring gene pyroglutamylated RFamide peptide Neighboring gene fibrinogen C domain containing 1

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Chronic myelogenous leukemia, BCR-ABL1 positive
MedGen: C0023473 OMIM: 608232 GeneReviews: Not available
Compare labs
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
MedGen: C4539857 OMIM: 617602 GeneReviews: Not available
Compare labs

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

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
bubble DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
ephrin receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
four-way junction DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 
neuropilin 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 kinase activity IMP
Inferred from Mutant Phenotype
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
 
sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
NOT supercoiled DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
syntaxin binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription coactivator activity TAS
Traceable Author Statement
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 conformation change IDA
Inferred from Direct Assay
more info
PubMed 
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
 
T cell receptor signaling pathway IEA
Inferred from Electronic Annotation
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
 
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
 
circulatory system development IEA
Inferred from Electronic Annotation
more info
 
collateral sprouting IEA
Inferred from Electronic Annotation
more info
 
endocytosis IEA
Inferred from Electronic Annotation
more info
 
endothelial cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 
integrin-mediated signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
 
neuropilin signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 blood vessel branching IEA
Inferred from Electronic Annotation
more info
 
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 cytoskeleton reorganization IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 cell migration involved in sprouting angiogenesis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cytosolic calcium ion concentration IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of endothelial cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of focal adhesion assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
 
positive regulation of stress fiber assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of substrate adhesion-dependent cell spreading IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
post-embryonic development IEA
Inferred from Electronic Annotation
more info
 
protein autophosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of Cdc42 protein signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of T cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
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 apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of autophagy TAS
Traceable Author Statement
more info
PubMed 
regulation of axon extension IMP
Inferred from Mutant Phenotype
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 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
 
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-containing complex IPI
Inferred from Physical Interaction
more info
PubMed 

General protein information

Preferred Names
tyrosine-protein kinase ABL1
Names
ABL protooncogene 1 nonreceptor tyrosine kinase
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
truncated ABL protooncogene 1 nonreceptor tyrosine kinase
tyrosine-protein kinase
v-abl Abelson murine leukemia viral oncogene homolog 1
NP_005148.2
NP_009297.2

NCBI Reference Sequences (RefSeq)

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_005157.6NP_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, ENST00000318560.6
    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, ENST00000372348.7
    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 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

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