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

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; AllianceGenome:HGNC:76
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: mouse all
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Genomic context

Location:: 9q34.12

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (130713043..130887675)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (142917999..143092548)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (133588430..133763062)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

VNTR polymorphism in the breakpoint region of ABL1 and susceptibility to bladder cancer.
Title: VNTR polymorphism in the breakpoint region of ABL1 and susceptibility to bladder cancer.
Validation of a novel NGS based BCR::ABL1 kinase domain mutation detection assay in Indian cohort.
Title: Validation of a novel NGS based BCR::ABL1 kinase domain mutation detection assay in Indian cohort.
Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome.
Title: Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome.
Characteristics and literature review of ETV6::ABL1 fusion gene-positive acute myeloid leukemia.
Title: Characteristics and literature review of ETV6::ABL1 fusion gene-positive acute myeloid leukemia.
Developmental trajectories and cooperating genomic events define molecular subtypes of BCR::ABL1-positive ALL.
Title: Developmental trajectories and cooperating genomic events define molecular subtypes of BCR::ABL1-positive ALL.
Zinc as a potential regulator of the BCR-ABL oncogene in chronic myelocytic leukemia cells.
Title: Zinc as a potential regulator of the BCR-ABL oncogene in chronic myelocytic leukemia cells.
A case report of a truncated ABL1 mutation in 2 cases with Philadelphia chromosome-positive B cell precursor acute lymphoblastic leukemia.
Title: A case report of a truncated ABL1 mutation in 2 cases with Philadelphia chromosome-positive B cell precursor acute lymphoblastic leukemia.
Spectrum of BCR-ABL mutations in Azerbaijanian imatinib-resistant patients with chronic myeloid leukemia.
Title: Spectrum of BCR-ABL mutations in Azerbaijanian imatinib-resistant patients with chronic myeloid leukemia.
Abl kinase-mediated FUS Tyr526 phosphorylation alters nucleocytoplasmic FUS localization in FTLD-FUS.
Title: Abl kinase-mediated FUS Tyr526 phosphorylation alters nucleocytoplasmic FUS localization in FTLD-FUS.
Histone demethylase PHF8 facilitates the development of chronic myeloid leukaemia by directly targeting BCR::ABL1.
Title: Histone demethylase PHF8 facilitates the development of chronic myeloid leukaemia by directly targeting BCR::ABL1.

Submit: New GeneRIF Correction See all GeneRIFs (558)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Chronic myelogenous leukemia, BCR-ABL1 positive MedGen: C0279543 OMIM: 608232 GeneReviews: Not available	not available
Congenital heart defects and skeletal malformations syndrome MedGen: C4539857 OMIM: 617602 GeneReviews: Not available	not available

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH80013 (e-PCR)
- UniSTS:84753

RH103512 (e-PCR)
- UniSTS:97837

G32466 (e-PCR)
- UniSTS:117051

PMC20354P4 (e-PCR)
- UniSTS:271937

A009E06 (e-PCR)
- UniSTS:17997

G29321 (e-PCR)
- UniSTS:26708

GDB:181505 (e-PCR)
- UniSTS:155251

RH69429 (e-PCR)
- UniSTS:34678

GDB:178527 (e-PCR)
- UniSTS:155014

GDB:178528 (e-PCR)
- UniSTS:155015

ABL1_685.2 (e-PCR)
- UniSTS:466093

WI-12399 (e-PCR)
- UniSTS:44754

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA binding	NAS Non-traceable Author Statement more info	PubMed
enables SH2 domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables SH3 domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables actin filament binding	IEA Inferred from Electronic Annotation more info
enables actin monomer binding	TAS Traceable Author Statement more info	PubMed
enables bubble DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables delta-catenin binding	IEA Inferred from Electronic Annotation more info
enables ephrin receptor binding	ISS Inferred from Sequence or Structural Similarity more info
enables four-way junction DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables magnesium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables manganese ion binding	IDA Inferred from Direct Assay more info	PubMed
enables mitogen-activated protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables neuropilin binding	IPI Inferred from Physical Interaction more info	PubMed
enables nicotinate-nucleotide adenylyltransferase activity	TAS Traceable Author Statement more info	PubMed
enables non-membrane spanning protein tyrosine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables non-membrane spanning protein tyrosine kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables phosphotyrosine residue binding	IPI Inferred from Physical Interaction more info	PubMed
enables proline-rich region binding	IDA Inferred from Direct Assay more info	PubMed
enables proline-rich region binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase C binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein tyrosine kinase activity	EXP Inferred from Experiment more info	PubMed
enables protein tyrosine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein tyrosine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein tyrosine kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein tyrosine kinase activity	TAS Traceable Author Statement more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
NOT enables supercoiled DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables syntaxin binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coactivator activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in B cell proliferation involved in immune response	IEA Inferred from Electronic Annotation more info
involved_in B cell receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in B-1 B cell homeostasis	IEA Inferred from Electronic Annotation more info
involved_in BMP signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in Bergmann glial cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in DN4 thymocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in DNA conformation change	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA damage response	IDA Inferred from Direct Assay more info	PubMed
involved_in ERK1 and ERK2 cascade	IEA Inferred from Electronic Annotation more info
involved_in Fc-gamma receptor signaling pathway involved in phagocytosis	TAS Traceable Author Statement more info
involved_in T cell receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in actin cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in actin filament polymerization	IEA Inferred from Electronic Annotation more info
involved_in activated T cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in activation of protein kinase C activity	IDA Inferred from Direct Assay more info	PubMed
involved_in alpha-beta T cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in associative learning	IEA Inferred from Electronic Annotation more info
involved_in autophagy	IEA Inferred from Electronic Annotation more info
involved_in canonical NF-kappaB signal transduction	IEA Inferred from Electronic Annotation more info
involved_in cardiac muscle cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in cell-cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cellular response to dopamine	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to hydrogen peroxide	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
involved_in cellular response to oxidative stress	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to transforming growth factor beta stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular senescence	IEA Inferred from Electronic Annotation more info
involved_in cerebellum morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in endothelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epidermal growth factor receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment of localization in cell	IEA Inferred from Electronic Annotation more info
involved_in integrin-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in integrin-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intrinsic apoptotic signaling pathway in response to DNA damage	TAS Traceable Author Statement more info	PubMed
involved_in microspike assembly	IEA Inferred from Electronic Annotation more info
involved_in mismatch repair	TAS Traceable Author Statement more info	PubMed
involved_in mitochondrial depolarization	TAS Traceable Author Statement more info	PubMed
involved_in mitotic cell cycle	TAS Traceable Author Statement more info	PubMed
involved_in myoblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of BMP signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of ERK1 and ERK2 cascade	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell-cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cellular senescence	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of double-strand break repair via homologous recombination	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of endothelial cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of long-term synaptic potentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of mitotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of ubiquitin-protein transferase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of ubiquitin-protein transferase activity	TAS Traceable Author Statement more info	PubMed
involved_in neural tube closure	IEA Inferred from Electronic Annotation more info
involved_in neuroepithelial cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in neuromuscular process controlling balance	IEA Inferred from Electronic Annotation more info
involved_in neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in neuropilin signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in peptidyl-tyrosine autophosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in peptidyl-tyrosine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in peptidyl-tyrosine phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in peptidyl-tyrosine phosphorylation	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within phospholipase C-inhibiting G protein-coupled receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in platelet-derived growth factor receptor-beta signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in podocyte apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of ERK1 and ERK2 cascade	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of T cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of Wnt signaling pathway, planar cell polarity pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of actin filament binding	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of blood vessel branching	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of canonical NF-kappaB signal transduction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell migration involved in sprouting angiogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of cytosolic calcium ion concentration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of dendrite development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of endothelial cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of endothelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of establishment of T cell polarity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of extracellular matrix organization	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of fibroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of focal adhesion assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of interleukin-2 production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of microtubule binding	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of mitotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of osteoblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of oxidoreductase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of peptidyl-tyrosine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of release of sequestered calcium ion into cytosol	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of stress fiber assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of substrate adhesion-dependent cell spreading	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of type II interferon production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of vasoconstriction	IEA Inferred from Electronic Annotation more info
involved_in post-embryonic development	IEA Inferred from Electronic Annotation more info
involved_in protein autophosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization to cytoplasmic microtubule plus-end	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein modification process	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of Cdc42 protein signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA-templated transcription	TAS Traceable Author Statement more info	PubMed
involved_in regulation of T cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of actin cytoskeleton organization	TAS Traceable Author Statement more info	PubMed
involved_in regulation of autophagy	TAS Traceable Author Statement more info	PubMed
involved_in regulation of axon extension	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell adhesion	TAS Traceable Author Statement more info	PubMed
involved_in regulation of cell cycle	TAS Traceable Author Statement more info	PubMed
involved_in regulation of cell motility	TAS Traceable Author Statement more info	PubMed
involved_in regulation of endocytosis	TAS Traceable Author Statement more info	PubMed
involved_in regulation of hematopoietic stem cell differentiation	TAS Traceable Author Statement more info
involved_in regulation of microtubule polymerization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of modification of synaptic structure	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of postsynaptic specialization assembly	IEA Inferred from Electronic Annotation more info
involved_in response to endoplasmic reticulum stress	IEA Inferred from Electronic Annotation more info
involved_in response to epinephrine	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within response to oxidative stress	IGI Inferred from Genetic Interaction more info	PubMed
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in signal transduction in response to DNA damage	IDA Inferred from Direct Assay more info	PubMed
involved_in spleen development	IEA Inferred from Electronic Annotation more info
involved_in substrate adhesion-dependent cell spreading	IEA Inferred from Electronic Annotation more info
involved_in thymus development	IEA Inferred from Electronic Annotation more info
involved_in transitional one stage B cell differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in actin cytoskeleton	TAS Traceable Author Statement more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in growth cone	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	NAS Non-traceable Author Statement more info	PubMed
located_in neuronal cell body	ISS Inferred from Sequence or Structural Similarity more info
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nuclear membrane	IEA Inferred from Electronic Annotation more info
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed
located_in nucleus	TAS Traceable Author Statement more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynapse	TAS Traceable Author Statement more info	PubMed
located_in postsynaptic density	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	IPI Inferred from Physical Interaction more info	PubMed
located_in ruffle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: tyrosine-protein kinase ABL1

Names: ABL protooncogene 1 nonreceptor tyrosine kinase; Abelson tyrosine-protein kinase 1; BCR-ABL1 p190; BCR/ABL e8a2 fusion; BCR/ABL1 e1a2 fusion protein; BCR/ABL1 fusion; bcr/c-abl oncogene protein; c-abl oncogene 1, receptor tyrosine kinase; chimeric BCR::ABL1 protein; proto-oncogene c-Abl; proto-oncogene tyrosine-protein kinase ABL1; v-abl Abelson murine leukemia viral oncogene homolog 1

NP_005148.2

EC 2.7.10.2

NP_009297.2

EC 2.7.10.2

NCBI Reference Sequences (RefSeq)

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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

NG_012034.1 RefSeqGene

Range

4163..178795

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_769

mRNA and Protein(s)

NM_005157.6 → NP_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

A3KFJ3, P00519, Q13869, Q13870, Q16133, Q17R61, Q45F09

UniProtKB/TrEMBL

Q59FK4

Related

ENSP00000323315.5, ENST00000318560.6

Conserved Domains (5) summary

smart00808
Location:1006 → 1130

FABD; F-actin binding domain (FABD)

cd09935
Location:123 → 216

SH2_ABL; Src homology 2 (SH2) domain found in Abelson murine lymphosarcoma virus (ABL) proteins

cd11850
Location:65 → 118

SH3_Abl; Src homology 3 domain of the Protein Tyrosine Kinase, Abelson kinase

cd05052
Location:235 → 497

PTKc_Abl; Catalytic domain of the Protein Tyrosine Kinase, Abelson kinase

pfam07714
Location:242 → 493

Pkinase_Tyr; Protein tyrosine kinase
NM_007313.3 → NP_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, AL359092, AL707819, CA335983

Consensus CDS

CCDS35165.1

UniProtKB/TrEMBL

Q59FK4

Related

ENSP00000361423.2, ENST00000372348.9

Conserved Domains (5) summary

smart00808
Location:1025 → 1149

FABD; F-actin binding domain (FABD)

cd09935
Location:142 → 235

SH2_ABL; Src homology 2 (SH2) domain found in Abelson murine lymphosarcoma virus (ABL) proteins

cd11850
Location:84 → 137

SH3_Abl; Src homology 3 domain of the Protein Tyrosine Kinase, Abelson kinase

cd05052
Location:254 → 516

PTKc_Abl; Catalytic domain of the Protein Tyrosine Kinase, Abelson kinase

pfam07714
Location:261 → 512

Pkinase_Tyr; Protein tyrosine kinase