ENSG00000097007


Homo sapiens

Features
Gene ID: ENSG00000097007
  
Biological name :ABL1
  
Synonyms : ABL1 / ABL proto-oncogene 1, non-receptor tyrosine kinase / P00519
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: 1
Band: q34.12
Gene start: 130713946
Gene end: 130887675
  
Corresponding Affymetrix probe sets: 202123_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000376971
Ensembl peptide - ENSP00000323315
Ensembl peptide - ENSP00000361423
NCBI entrez gene - 25     See in Manteia.
OMIM - 189980
RefSeq - NM_005157
RefSeq - NM_007313
RefSeq Peptide - NP_005148
RefSeq Peptide - NP_009297
swissprot - R4GRW0
swissprot - P00519
swissprot - A0A024R8E2
Ensembl - ENSG00000097007
  
Related genetic diseases (OMIM): 189980 - Leukemia, Philadelphia chromosome-positive, resistant to imatinib
  617602 - Congenital heart defects and skeletal malformations syndrome, 617602
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 abl1ENSDARG00000035187Danio rerio
 ABL1ENSGALG00000003875Gallus gallus
 Abl1ENSMUSG00000026842Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ABL2 / P42684 / ABL proto-oncogene 2, non-receptor tyrosine kinaseENSG0000014332254
BTK / Q06187 / Bruton tyrosine kinaseENSG0000001067117
TEC / P42680 / tec protein tyrosine kinaseENSG0000013560517
CSK / P41240 / C-terminal Src kinaseENSG0000010365316
ITK / Q08881 / IL2 inducible T cell kinaseENSG0000011326316
FER / P16591 / FER tyrosine kinaseENSG0000015142216
TXK / P42681 / TXK tyrosine kinaseENSG0000007496616
MATK / P42679 / megakaryocyte-associated tyrosine kinaseENSG0000000726415
FES / P07332 / FES proto-oncogene, tyrosine kinaseENSG0000018251115
BMX / P51813 / BMX non-receptor tyrosine kinaseENSG0000010201015


Protein motifs (from Interpro)
Interpro ID Name
 IPR000719  Protein kinase domain
 IPR000980  SH2 domain
 IPR001245  Serine-threonine/tyrosine-protein kinase, catalytic domain
 IPR001452  SH3 domain
 IPR008266  Tyrosine-protein kinase, active site
 IPR011009  Protein kinase-like domain superfamily
 IPR015015  F-actin binding
 IPR017441  Protein kinase, ATP binding site
 IPR020635  Tyrosine-protein kinase, catalytic domain
 IPR033221  Tyrosine-protein kinase ABL1/transforming protein Abl
 IPR035837  Tyrosine-protein kinase ABL, SH2 domain
 IPR036028  SH3-like domain superfamily
 IPR036860  SH2 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000278 mitotic cell cycle TAS
 biological_processGO:0001843 neural tube closure IEA
 biological_processGO:0001922 B-1 B cell homeostasis IEA
 biological_processGO:0001934 positive regulation of protein phosphorylation IMP
 biological_processGO:0002322 B cell proliferation involved in immune response IEA
 biological_processGO:0002333 transitional one stage B cell differentiation IEA
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006298 mismatch repair TAS
 biological_processGO:0006355 regulation of transcription, DNA-templated TAS
 biological_processGO:0006464 cellular protein modification process NAS
 biological_processGO:0006468 protein phosphorylation IMP
 biological_processGO:0006897 endocytosis IEA
 biological_processGO:0006909 phagocytosis IEA
 biological_processGO:0006914 autophagy IEA
 biological_processGO:0006915 apoptotic process IEA
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0006975 DNA damage induced protein phosphorylation IDA
 biological_processGO:0006979 response to oxidative stress IGI
 biological_processGO:0007050 cell cycle arrest TAS
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0007173 epidermal growth factor receptor signaling pathway IEA
 biological_processGO:0007204 positive regulation of cytosolic calcium ion concentration IMP
 biological_processGO:0007229 integrin-mediated signaling pathway IMP
 biological_processGO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage TAS
 biological_processGO:0009791 post-embryonic development IEA
 biological_processGO:0010506 regulation of autophagy TAS
 biological_processGO:0010595 positive regulation of endothelial cell migration IMP
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0018108 peptidyl-tyrosine phosphorylation IMP
 biological_processGO:0021587 cerebellum morphogenesis IEA
 biological_processGO:0022408 negative regulation of cell-cell adhesion IEA
 biological_processGO:0030035 microspike assembly IEA
 biological_processGO:0030036 actin cytoskeleton organization ISS
 biological_processGO:0030100 regulation of endocytosis TAS
 biological_processGO:0030155 regulation of cell adhesion TAS
 biological_processGO:0030182 neuron differentiation IEA
 biological_processGO:0030514 negative regulation of BMP signaling pathway IEA
 biological_processGO:0030516 regulation of axon extension IMP
 biological_processGO:0031113 regulation of microtubule polymerization IMP
 biological_processGO:0032489 regulation of Cdc42 protein signal transduction IMP
 biological_processGO:0032956 regulation of actin cytoskeleton organization IMP
 biological_processGO:0033690 positive regulation of osteoblast proliferation IEA
 biological_processGO:0034446 substrate adhesion-dependent cell spreading IEA
 biological_processGO:0034599 cellular response to oxidative stress TAS
 biological_processGO:0035791 platelet-derived growth factor receptor-beta signaling pathway IMP
 biological_processGO:0038083 peptidyl-tyrosine autophosphorylation IMP
 biological_processGO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis TAS
 biological_processGO:0038189 neuropilin signaling pathway IMP
 biological_processGO:0042100 B cell proliferation IEA
 biological_processGO:0042127 regulation of cell proliferation IBA
 biological_processGO:0042770 signal transduction in response to DNA damage IDA
 biological_processGO:0043065 positive regulation of apoptotic process IDA
 biological_processGO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling IEA
 biological_processGO:0043124 negative regulation of I-kappaB kinase/NF-kappaB signaling IEA
 biological_processGO:0043542 endothelial cell migration IMP
 biological_processGO:0045087 innate immune response IBA
 biological_processGO:0045184 establishment of protein localization IMP
 biological_processGO:0045580 regulation of T cell differentiation ISS
 biological_processGO:0045930 negative regulation of mitotic cell cycle IEA
 biological_processGO:0045931 positive regulation of mitotic cell cycle IEA
 biological_processGO:0046632 alpha-beta T cell differentiation IEA
 biological_processGO:0046777 protein autophosphorylation IDA
 biological_processGO:0048008 platelet-derived growth factor receptor signaling pathway IEA
 biological_processGO:0048536 spleen development IEA
 biological_processGO:0048538 thymus development IEA
 biological_processGO:0048668 collateral sprouting IEA
 biological_processGO:0050731 positive regulation of peptidyl-tyrosine phosphorylation IDA
 biological_processGO:0050798 activated T cell proliferation IEA
 biological_processGO:0050853 B cell receptor signaling pathway IEA
 biological_processGO:0050885 neuromuscular process controlling balance IEA
 biological_processGO:0051149 positive regulation of muscle cell differentiation TAS
 biological_processGO:0051281 positive regulation of release of sequestered calcium ion into cytosol IEA
 biological_processGO:0051353 positive regulation of oxidoreductase activity IDA
 biological_processGO:0051444 negative regulation of ubiquitin-protein transferase activity TAS
 biological_processGO:0051496 positive regulation of stress fiber assembly IMP
 biological_processGO:0051726 regulation of cell cycle IEA
 biological_processGO:0051882 mitochondrial depolarization TAS
 biological_processGO:0051894 positive regulation of focal adhesion assembly IMP
 biological_processGO:0060020 Bergmann glial cell differentiation IEA
 biological_processGO:0060563 neuroepithelial cell differentiation IEA
 biological_processGO:0070301 cellular response to hydrogen peroxide IDA
 biological_processGO:0070373 negative regulation of ERK1 and ERK2 cascade IEA
 biological_processGO:0070374 positive regulation of ERK1 and ERK2 cascade IEA
 biological_processGO:0071222 cellular response to lipopolysaccharide IEA
 biological_processGO:0071901 negative regulation of protein serine/threonine kinase activity IDA
 biological_processGO:0072358 cardiovascular system development IEA
 biological_processGO:0090050 positive regulation of cell migration involved in sprouting angiogenesis IEA
 biological_processGO:0090135 actin filament branching IEA
 biological_processGO:1900026 positive regulation of substrate adhesion-dependent cell spreading IMP
 biological_processGO:1900042 positive regulation of interleukin-2 secretion IEA
 biological_processGO:1900272 negative regulation of long-term synaptic potentiation ISS
 biological_processGO:1900275 negative regulation of phospholipase C activity IMP
 biological_processGO:1901216 positive regulation of neuron death IEA
 biological_processGO:1902036 regulation of hematopoietic stem cell differentiation TAS
 biological_processGO:1902715 positive regulation of interferon-gamma secretion IEA
 biological_processGO:1903053 regulation of extracellular matrix organization IEA
 biological_processGO:1903351 cellular response to dopamine TAS
 biological_processGO:1904528 positive regulation of microtubule binding IMP
 biological_processGO:1904531 positive regulation of actin filament binding IMP
 biological_processGO:1905244 regulation of modification of synaptic structure ISS
 biological_processGO:1905555 positive regulation blood vessel branching IEA
 biological_processGO:1990051 activation of protein kinase C activity IDA
 biological_processGO:2000096 positive regulation of Wnt signaling pathway, planar cell polarity pathway IEA
 biological_processGO:2000145 regulation of cell motility TAS
 biological_processGO:2000249 regulation of actin cytoskeleton reorganization TAS
 biological_processGO:2000251 positive regulation of actin cytoskeleton reorganization IMP
 biological_processGO:2000352 negative regulation of endothelial cell apoptotic process IEA
 biological_processGO:2000772 regulation of cellular senescence IEA
 biological_processGO:2000773 negative regulation of cellular senescence IEA
 biological_processGO:2001020 regulation of response to DNA damage stimulus IDA
 cellular_componentGO:0005634 nucleus ISS
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005730 nucleolus IDA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005739 mitochondrion NAS
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0015629 actin cytoskeleton TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016604 nuclear body IDA
 cellular_componentGO:0030425 dendrite ISS
 cellular_componentGO:0031234 extrinsic component of cytoplasmic side of plasma membrane IBA
 cellular_componentGO:0031252 cell leading edge IEA
 cellular_componentGO:0031965 nuclear membrane IEA
 cellular_componentGO:0032991 protein-containing complex IPI
 cellular_componentGO:0043025 neuronal cell body ISS
 cellular_componentGO:0048471 perinuclear region of cytoplasm IDA
 cellular_componentGO:0098794 postsynapse TAS
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0000287 magnesium ion binding IDA
 molecular_functionGO:0001784 phosphotyrosine residue binding IPI
 molecular_functionGO:0003677 DNA binding NAS
 molecular_functionGO:0003785 actin monomer binding TAS
 molecular_functionGO:0004515 nicotinate-nucleotide adenylyltransferase activity TAS
 molecular_functionGO:0004672 protein kinase activity IDA
 molecular_functionGO:0004713 protein tyrosine kinase activity TAS
 molecular_functionGO:0004715 non-membrane spanning protein tyrosine kinase activity IMP
 molecular_functionGO:0005080 protein kinase C binding IPI
 molecular_functionGO:0005102 signaling receptor binding IBA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IDA
 molecular_functionGO:0008022 protein C-terminus binding IPI
 molecular_functionGO:0016301 kinase activity IMP
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0017124 SH3 domain binding IPI
 molecular_functionGO:0019904 protein domain specific binding IEA
 molecular_functionGO:0019905 syntaxin binding IPI
 molecular_functionGO:0030145 manganese ion binding IDA
 molecular_functionGO:0038191 neuropilin binding IPI
 molecular_functionGO:0042169 SH2 domain binding IPI
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0046875 ephrin receptor binding ISS
 molecular_functionGO:0051015 actin filament binding IEA
 molecular_functionGO:0051019 mitogen-activated protein kinase binding IPI
 molecular_functionGO:0070064 proline-rich region binding IPI


Pathways (from Reactome)
Pathway description
Regulation of actin dynamics for phagocytic cup formation
CDO in myogenesis
Role of ABL in ROBO-SLIT signaling
RHO GTPases Activate WASPs and WAVEs
HDR through Single Strand Annealing (SSA)
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Cyclin D associated events in G1
RUNX1 regulates transcription of genes involved in differentiation of HSCs
RUNX2 regulates osteoblast differentiation
Factors involved in megakaryocyte development and platelet production


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
Show

 HP:0001873 Thrombocytopenia 
Show

 HP:0001894 Thrombocytosis 
Show

 HP:0001912 Abnormality of basophils 
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 HP:0001945 Fever 
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 HP:0001974 Leukocytosis "An abnormal increase in the number of `leukocytes` (CL:0000738) in the `blood` (FMA:9670)." [HPO:probinson]
Show

 HP:0004396 Poor appetite 
Show

 HP:0005547 Myeloproliferative disorder 
Show

 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000188130 MAPK12 / P53778 / mitogen-activated protein kinase 12  / reaction / complex
 ENSG00000112062 MAPK14 / Q16539 / mitogen-activated protein kinase 14  / complex / reaction
 ENSG00000112186 CAP2 / P40123 / cyclase associated actin cytoskeleton regulatory protein 2  / complex / reaction
 ENSG00000074054 CLASP1 / Q7Z460 / cytoplasmic linker associated protein 1  / reaction / complex
 ENSG00000163539 CLASP2 / O75122 / cytoplasmic linker associated protein 2  / reaction / complex
 ENSG00000149311 ATM / Q13315 / ATM serine/threonine kinase  / reaction
 ENSG00000145147 SLIT2 / O94813 / slit guidance ligand 2  / complex / reaction
 ENSG00000164885 CDK5 / Q00535 / cyclin dependent kinase 5  / reaction / complex
 ENSG00000131236 CAP1 / Q01518 / cyclase associated actin cytoskeleton regulatory protein 1  / complex / reaction
 ENSG00000008294 SPAG9 / O60271 / sperm associated antigen 9  / reaction / complex
 ENSG00000002016 RAD52 / P43351 / RAD52 homolog, DNA repair protein  / reaction
 ENSG00000140299 BNIP2 / Q12982 / BCL2 interacting protein 2  / complex / reaction
 ENSG00000064309 CDON / Q4KMG0 / cell adhesion associated, oncogene regulated  / reaction / complex
 ENSG00000170558 CDH2 / P19022 / cadherin 2  / complex / reaction
 ENSG00000144857 BOC / Q9BWV1 / BOC cell adhesion associated, oncogene regulated  / complex / reaction
 ENSG00000136238 RAC1 / P63000 / Rac family small GTPase 1  / reaction
 ENSG00000134508 Q8TDN4 / CABLES1 / Cdk5 and Abl enzyme substrate 1  / complex / reaction
 ENSG00000137693 YAP1 / P46937 / Yes associated protein 1  / reaction
 ENSG00000129910 CDH15 / P55291 / cadherin 15  / complex / reaction
 ENSG00000175866 BAIAP2 / Q9UQB8 / BAI1 associated protein 2  / reaction
 ENSG00000070831 CDC42 / P60953 / cell division cycle 42  / reaction / complex
 ENSG00000066032 CTNNA2 / P26232 / catenin alpha 2  / reaction / complex
 ENSG00000168036 CTNNB1 / P35222 / catenin beta 1  / reaction / complex
 ENSG00000044115 CTNNA1 / P35221 / catenin alpha 1  / complex / reaction
 ENSG00000185386 MAPK11 / Q15759 / mitogen-activated protein kinase 11  / reaction / complex
 ENSG00000169855 ROBO1 / Q9Y6N7 / roundabout guidance receptor 1  / reaction / complex






 

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