Gene Gene information from NCBI Gene database.
Entrez ID 25
Gene name ABL proto-oncogene 1, non-receptor tyrosine kinase
Gene symbol ABL1
Synonyms (NCBI Gene)
ABLBCR-ABLCHDSKMJTK7bcr/ablc-ABLc-ABL1p150v-abl
Chromosome 9
Chromosome location 9q34.12
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 dom
SNPs SNP information provided by dbSNP.
25
SNP ID Visualize variation Clinical significance Consequence
rs121913448 G>A Likely-pathogenic Coding sequence variant, missense variant
rs121913449 A>T Likely-pathogenic Coding sequence variant, missense variant
rs121913450 A>G Likely-pathogenic Coding sequence variant, missense variant
rs121913451 C>A,G Likely-pathogenic Coding sequence variant, missense variant
rs121913452 T>A,C,G Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
555
miRTarBase ID miRNA Experiments Reference
MIRT003032 hsa-miR-203a-3p Luciferase reporter assay 18538733
MIRT003032 hsa-miR-203a-3p Luciferase reporter assay 18538733
MIRT003032 hsa-miR-203a-3p Luciferase reporter assay 18538733
MIRT003032 hsa-miR-203a-3p Review 20029422
MIRT007197 hsa-miR-29a-3p Luciferase reporter assay 23428668
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
247
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000278 Process Mitotic cell cycle TAS 24522549
GO:0000287 Function Magnesium ion binding IDA 9144171
GO:0000287 Function Magnesium ion binding IEA
GO:0000400 Function Four-way junction DNA binding IDA 9558345
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
189980 76 ENSG00000097007
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P00519
Protein name Tyrosine-protein kinase ABL1 (EC 2.7.10.2) (Abelson murine leukemia viral oncogene homolog 1) (Abelson tyrosine-protein kinase 1) (Proto-oncogene c-Abl) (p150)
Protein function Non-receptor tyrosine-protein kinase that plays a role in many key processes linked to cell growth and survival such as cytoskeleton remodeling in response to extracellular stimuli, cell motility and adhesion, receptor endocytosis, autophagy, DN
PDB 1AB2 , 1AWO , 1BBZ , 1JU5 , 1OPL , 1ZZP , 2ABL , 2E2B , 2F4J , 2FO0 , 2G1T , 2G2F , 2G2H , 2G2I , 2GQG , 2HIW , 2HYY , 2HZ0 , 2HZ4 , 2HZI , 2O88 , 2V7A , 3CS9 , 3EG0 , 3EG1 , 3EG2 , 3EG3 , 3EGU , 3K2M , 3PYY , 3QRI , 3QRJ , 3QRK , 3T04 , 3UE4 , 3UYO , 4J9B , 4J9C , 4J9D , 4J9E , 4J9F , 4J9G , 4J9H , 4J9I , 4JJB , 4JJC , 4JJD , 4TWP , 4WA9 , 4XEY , 4YC8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00018 SH3_1 67 113 SH3 domain Domain
PF00017 SH2 127 202 SH2 domain Domain
PF07714 PK_Tyr_Ser-Thr 242 493 Protein tyrosine and serine/threonine kinase Domain
PF08919 F_actin_bind 1025 1130 F-actin binding Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed.
Sequence
MLEICLKLVGCKSKKGLSSSSSCYLEEALQRPVASDFEPQGLSEAARWNSKENLLAGPSE
NDPNLFVALYDFVASGDNTLSITKGEKLRVLGYNHNGEWCEAQTKNGQGWVPSNYITPVN
SLEKHSWYHGPVSRNAAEYLLSSGINGSFLVRESESSPGQRSISLRYEGRVYHYRINTAS
DGKLYVSSESRFNTLAELVHHH
STVADGLITTLHYPAPKRNKPTVYGVSPNYDKWEMERT
DITMKHKLGGGQYGEVYEGVWKKYSLTVAVKTLKEDTMEVEEFLKEAAVMKEIKHPNLVQ
LLGVCTREPPFYIITEFMTYGNLLDYLRECNRQEVNAVVLLYMATQISSAMEYLEKKNFI
HRDLAARNCLVGENHLVKVADFGLSRLMTGDTYTAHAGAKFPIKWTAPESLAYNKFSIKS
DVWAFGVLLWEIATYGMSPYPGIDLSQVYELLEKDYRMERPEGCPEKVYELMRACWQWNP
SDRPSFAEIHQAF
ETMFQESSISDEVEKELGKQGVRGAVSTLLQAPELPTKTRTSRRAAE
HRDTTDVPEMPHSKGQGESDPLDHEPAVSPLLPRKERGPPEGGLNEDERLLPKDKKTNLF
SALIKKKKKTAPTPPKRSSSFREMDGQPERRGAGEEEGRDISNGALAFTPLDTADPAKSP
KPSNGAGVPNGALRESGGSGFRSPHLWKKSSTLTSSRLATGEEEGGGSSSKRFLRSCSAS
CVPHGAKDTEWRSVTLPRDLQSTGRQFDSSTFGGHKSEKPALPRKRAGENRSDQVTRGTV
TPPPRLVKKNEEAADEVFKDIMESSPGSSPPNLTPKPLRRQVTVAPASGLPHKEEAGKGS
ALGTPAAAEPVTPTSKAGSGAPGGTSKGPAEESRVRRHKHSSESPGRDKGKLSRLKPAPP
PPPAASAGKAGGKPSQSPSQEAAGEAVLGAKTKATSLVDAVNSDAAKPSQPGEGLKKPVL
PATPKPQSAKPSGTPISPAPVPSTLPSASSALAGDQPSSTAFIPLISTRVSLRKTRQPPE
RIASGAITKGVVLDSTEALCLAISRNSEQMASHSAVLEAGKNLYTFCVSYVDSIQQMRNK
FAFREAINKLENNLRELQICPATAGSGPAATQDFSKLLSSVKEISDIVQR
Sequence length 1130
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  ErbB signaling pathway
Ras signaling pathway
Cell cycle
Axon guidance
Neurotrophin signaling pathway
Pathogenic Escherichia coli infection
Pathways in cancer
MicroRNAs in cancer
Chemical carcinogenesis - reactive oxygen species
Chronic myeloid leukemia
Viral myocarditis
  Regulation of actin dynamics for phagocytic cup formation
Role of ABL in ROBO-SLIT signaling
Myogenesis
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
FCGR3A-mediated phagocytosis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
109
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ABL1-related disorder Likely pathogenic; Pathogenic rs1831099962 RCV001249439
Abnormal skeletal morphology Pathogenic; Likely pathogenic rs1060499548, rs1060499547 RCV000445566
RCV000445576
Chronic myelogenous leukemia, BCR-ABL1 positive Likely pathogenic; Pathogenic rs121913459, rs137853304, rs121913457 RCV000432136
RCV000013463
RCV000420800
Congenital heart defects and skeletal malformations syndrome Likely pathogenic; Pathogenic rs1355021408, rs2133017541, rs2132956266, rs2133022634, rs2490715483, rs2490721921, rs1060499548, rs1060499547, rs1831097846, rs1831432715, rs1831388695, rs1831432776, rs1831433011, rs1830947813 RCV001330378
RCV001543418
RCV002273061
RCV002466765
RCV003148148
RCV003986042
RCV000496371
RCV000496944
RCV001175161
RCV001265618
RCV001263086
RCV001263087
RCV001263088
RCV001269278
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ABL1-related congenital heart defects and skeletal malformations syndrome Uncertain significance rs2490715497 RCV002467387
Blast phase chronic myelogenous leukemia, BCR-ABL1 positive - rs1057519771 RCV005430093
Developmental disorder Uncertain significance rs2490749712 RCV003764448
Hepatocellular carcinoma Benign rs34011272 RCV005921014
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Stimulate 19563513
Acute Disease Associate 8642285
Adenocarcinoma of Lung Associate 23922113
Agnosia Associate 1742479, 18615627, 2157692, 21804629, 9116308
Agranulocytosis Associate 36912524
Alzheimer Disease Associate 19363261, 25219501, 31755389, 36552734
Amyotrophic Lateral Sclerosis Associate 28539470, 32005289, 36552734
Anemia Associate 21804629, 32954738
Anemia Hemolytic Associate 35731275
Anemia Hemolytic Autoimmune Associate 32118733