ABL1
Tyrosine-protein kinase ABL1
Also known as: ABL, ABL1_HUMAN, c-ABL, JTK7, p150
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P00519
- Gene
- ABL1
- Ensembl
- ENSG00000097007
- Chromosome
- 9
- Canonical length
- 1130 aa
- Protein class
- Cancer-related genes, Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Predicted intracellular proteins, RAS pathway related proteins
- Subcellular location
- Nucleoplasm,Nuclear bodies
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
1130 residues, UniProt reviewed canonical sequence.
>P00519|ABL1
1 MLEICLKLVG CKSKKGLSSS SSCYLEEALQ RPVASDFEPQ GLSEAARWNS KENLLAGPSE
61 NDPNLFVALY DFVASGDNTL SITKGEKLRV LGYNHNGEWC EAQTKNGQGW VPSNYITPVN
121 SLEKHSWYHG PVSRNAAEYL LSSGINGSFL VRESESSPGQ RSISLRYEGR VYHYRINTAS
181 DGKLYVSSES RFNTLAELVH HHSTVADGLI TTLHYPAPKR NKPTVYGVSP NYDKWEMERT
241 DITMKHKLGG GQYGEVYEGV WKKYSLTVAV KTLKEDTMEV EEFLKEAAVM KEIKHPNLVQ
301 LLGVCTREPP FYIITEFMTY GNLLDYLREC NRQEVNAVVL LYMATQISSA MEYLEKKNFI
361 HRDLAARNCL VGENHLVKVA DFGLSRLMTG DTYTAHAGAK FPIKWTAPES LAYNKFSIKS
421 DVWAFGVLLW EIATYGMSPY PGIDLSQVYE LLEKDYRMER PEGCPEKVYE LMRACWQWNP
481 SDRPSFAEIH QAFETMFQES SISDEVEKEL GKQGVRGAVS TLLQAPELPT KTRTSRRAAE
541 HRDTTDVPEM PHSKGQGESD PLDHEPAVSP LLPRKERGPP EGGLNEDERL LPKDKKTNLF
601 SALIKKKKKT APTPPKRSSS FREMDGQPER RGAGEEEGRD ISNGALAFTP LDTADPAKSP
661 KPSNGAGVPN GALRESGGSG FRSPHLWKKS STLTSSRLAT GEEEGGGSSS KRFLRSCSAS
721 CVPHGAKDTE WRSVTLPRDL QSTGRQFDSS TFGGHKSEKP ALPRKRAGEN RSDQVTRGTV
781 TPPPRLVKKN EEAADEVFKD IMESSPGSSP PNLTPKPLRR QVTVAPASGL PHKEEAGKGS
841 ALGTPAAAEP VTPTSKAGSG APGGTSKGPA EESRVRRHKH SSESPGRDKG KLSRLKPAPP
901 PPPAASAGKA GGKPSQSPSQ EAAGEAVLGA KTKATSLVDA VNSDAAKPSQ PGEGLKKPVL
961 PATPKPQSAK PSGTPISPAP VPSTLPSASS ALAGDQPSST AFIPLISTRV SLRKTRQPPE
1021 RIASGAITKG VVLDSTEALC LAISRNSEQM ASHSAVLEAG KNLYTFCVSY VDSIQQMRNK
1081 FAFREAINKL ENNLRELQIC PATAGSGPAA TQDFSKLLSS VKEISDIVQRLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ABL1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.49
- Highest tissue expression
- 93 nTPM
Expression across tissuesHPA
Tissue
- colon: 93 nTPM
- urinary bladder: 78 nTPM
- blood vessel: 65 nTPM
- endometrium: 60 nTPM
- cervix: 58 nTPM
- ovary: 53 nTPM
Single-cell type
- choroid plexus epithelial cells: 356 nCPM
- myonuclei: 274 nCPM
- pituicytes/fscs: 256 nCPM
- fibro-adipogenic progenitors: 248 nCPM
- fibroblasts: 238 nCPM
- proximal tubule cells: 223 nCPM
Immune cell
- non-classical monocyte: 1.7 nTPM
- memory B-cell: 1.2 nTPM
- plasmacytoid DC: 1 nTPM
- NK-cell: 0.8 nTPM
- classical monocyte: 0.7 nTPM
- MAIT T-cell: 0.6 nTPM
Brain region
- white matter: 71 nTPM
- medulla oblongata: 70 nTPM
- choroid plexus: 68 nTPM
- midbrain: 68 nTPM
- basal ganglia: 67 nTPM
- thalamus: 60 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ABL1.
Disease | AllUniProt
Conditions ABL1 is implicated in, by any mechanism.
- Leukemia, chronic myeloid (CML) MIM:608232
- Congenital heart defects and skeletal malformations syndrome (CHDSKM) MIM:617602
Disease | GeneticClinVar
26 pathogenic / likely-pathogenic of 906 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Congenital heart defects and skeletal malformations syndrome
- Leukemia, Philadelphia chromosome-positive, resistant to imatinib
- Chronic myeloid leukemia
- Congenital heart disease
- Abnormal skeletal morphology
Disease | ImmuneIEDB
Conditions an epitope on ABL1 was assayed in.
- chronic myeloid leukemia T cell
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.18
- gnomAD pLI
- 1
- gnomAD missense Z
- 2.56
- DepMap mean gene effect
- -0.03
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- actin cytoskeleton organization
- actin filament polymerization
- activated T cell proliferation
- alpha-beta T cell differentiation
- associative learning
- autophagy
- B cell proliferation involved in immune response
- B cell receptor signaling pathway
- B-1 B cell homeostasis
- Bergmann glial cell differentiation
- BMP signaling pathway
- canonical NF-kappaB signal transduction
- cardiac muscle cell proliferation
- cell-cell adhesion
- cellular response to dopamine
- cellular response to hydrogen peroxide
- cellular response to lipopolysaccharide
- cellular response to oxidative stress
- cellular response to transforming growth factor beta stimulus
- cellular senescence
- cerebellum morphogenesis
- DN4 thymocyte differentiation
- DNA conformation change
- DNA damage response
- endothelial cell migration
- ephrin receptor signaling pathway
- epidermal growth factor receptor signaling pathway
- ERK1 and ERK2 cascade
- establishment of localization in cell
- Fc-gamma receptor signaling pathway involved in phagocytosis
- integrin-mediated signaling pathway
- intracellular signal transduction
- intrinsic apoptotic signaling pathway in response to DNA damage
- microspike assembly
- mismatch repair
- mitochondrial depolarization
- mitotic cell cycle
- myoblast proliferation
- negative regulation of BMP signaling pathway
- negative regulation of cell-cell adhesion
- negative regulation of cellular senescence
- negative regulation of double-strand break repair via homologous recombination
- negative regulation of endothelial cell apoptotic process
- negative regulation of ERK1 and ERK2 cascade
- negative regulation of long-term synaptic potentiation
- negative regulation of mitotic cell cycle
- negative regulation of ubiquitin-protein transferase activity
- neural tube closure
- neuroepithelial cell differentiation
- neuromuscular process controlling balance
- neuron apoptotic process
- neuron differentiation
- neuropilin signaling pathway
- phospholipase C-inhibiting G protein-coupled receptor signaling pathway
- platelet-derived growth factor receptor-beta signaling pathway
- podocyte apoptotic process
- positive regulation of apoptotic process
- positive regulation of blood vessel branching
- positive regulation of canonical NF-kappaB signal transduction
- positive regulation of cell migration involved in sprouting angiogenesis
- positive regulation of cytosolic calcium ion concentration
- positive regulation of dendrite development
- positive regulation of endothelial cell migration
- positive regulation of ERK1 and ERK2 cascade
- positive regulation of establishment of T cell polarity
- positive regulation of extracellular matrix organization
- positive regulation of fibroblast proliferation
- positive regulation of focal adhesion assembly
- positive regulation of interleukin-2 production
- positive regulation of mitotic cell cycle
- positive regulation of neuron apoptotic process
- positive regulation of osteoblast proliferation
- positive regulation of phospholipase C/protein kinase C signal transduction
- positive regulation of release of sequestered calcium ion into cytosol
- positive regulation of stress fiber assembly
- positive regulation of substrate adhesion-dependent cell spreading
- positive regulation of T cell migration
- positive regulation of transcription by RNA polymerase II
- positive regulation of type II interferon production
- positive regulation of vasoconstriction
- positive regulation of Wnt signaling pathway, planar cell polarity pathway
- post-embryonic development
- protein modification process
- regulation of actin cytoskeleton organization
- regulation of autophagy
- regulation of axon extension
- regulation of Cdc42 protein signal transduction
- regulation of cell adhesion
- regulation of cell cycle
- regulation of cell motility
- regulation of DNA-templated transcription
- regulation of endocytosis
- regulation of hematopoietic stem cell differentiation
- regulation of microtubule polymerization
- regulation of modification of synaptic structure
- regulation of postsynaptic specialization assembly
- regulation of T cell differentiation
- response to endoplasmic reticulum stress
- response to epinephrine
- response to oxidative stress
- response to xenobiotic stimulus
- signal transduction in response to DNA damage
- spleen development
- substrate adhesion-dependent cell spreading
- T cell receptor signaling pathway
- thymus development
- transitional one stage B cell differentiation
- vascular endothelial cell response to oscillatory fluid shear stress
- protein localization to cytoplasmic microtubule plus-end
Molecular functions
- actin filament binding
- actin monomer binding
- ATP binding
- bubble DNA binding
- delta-catenin binding
- DNA binding
- enzyme activator activity
- enzyme binding
- ephrin receptor binding
- four-way junction DNA binding
- kinase activity
- magnesium ion binding
- manganese ion binding
- mitogen-activated protein kinase binding
- neuropilin binding
- nicotinate-nucleotide adenylyltransferase activity
- non-membrane spanning protein tyrosine kinase activity
- phosphotyrosine residue binding
- proline-rich region binding
- protein kinase activity
- protein kinase C binding
- protein serine/threonine kinase activator activity
- protein serine/threonine kinase activity
- protein tyrosine kinase activity
- sequence-specific double-stranded DNA binding
- SH2 domain binding
- syntaxin binding
- transcription coactivator activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Protein kinase domain
- SH2 domain
- Serine-threonine/tyrosine-protein kinase, catalytic domain
- SH3 domain
- Tyrosine-protein kinase, active site
- Protein kinase-like domain superfamily
- F-actin binding
- Protein kinase, ATP binding site
- Tyrosine-protein kinase, catalytic domain
- Tyrosine-protein kinase ABL, SH2 domain
- SH3-like domain superfamily
- SH2 domain superfamily
- Non-receptor tyrosine kinases involved in cell signaling
- SH2 domain
- SH3 domain
- Protein tyrosine and serine/threonine kinase
- F-actin binding
KeywordsUniProt
- Acetylation
- Apoptosis
- ATP-binding
- Autophagy
- Cell adhesion
- Chromosomal rearrangement
- Cytoplasm
- Cytoskeleton
- DNA damage
- DNA repair
- DNA-binding
- Endocytosis
- Kinase
- Lipoprotein
- Magnesium
- Manganese
- Membrane
- Metal-binding
- Mitochondrion
- Myristate
- Nucleotide-binding
- Nucleus
- Phosphoprotein
- Proto-oncogene
- SH2 domain
- SH3 domain
- Transferase
- Tyrosine-protein kinase
- Ubl conjugation
InteractionsUniProt · HPA
Protein binding partners of ABL1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ABL1 as an antibody target. Whether an autoantibody or antibody against ABL1 could matter depends on whether native ABL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ABL1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label ABL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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