Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
25
Gene name Gene Name - the full gene name approved by the HGNC.
ABL proto-oncogene 1, non-receptor tyrosine kinase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ABL1
Synonyms (NCBI Gene) Gene synonyms aliases
ABL, BCR-ABL, CHDSKM, JTK7, bcr/abl, c-ABL, c-ABL1, p150, v-abl
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ABL, CHDSKM
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q34.12
Summary Summary of gene provided in NCBI Entrez 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 dom
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000278 Process Mitotic cell cycle TAS 24522549
GO:0000287 Function Magnesium ion binding IDA 9144171
GO:0000400 Function Four-way junction DNA binding IDA 9558345
GO:0000405 Function Bubble DNA binding IDA 9558345
GO:0001784 Function Phosphotyrosine residue binding IPI 20624904
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
189980 76 ENSG00000097007
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Adenocarcinoma Adenocarcinoma, Adenocarcinoma, Basal Cell, Adenocarcinoma, Oxyphilic, Adenocarcinoma, Tubular rs121913530, rs886039394, rs121913474 21472143
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)
28288113
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
20234815
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
20234815
Unknown
Disease term Disease name Evidence References Source
Coronary heart disease Coronary heart disease 23364394 ClinVar
Connective Tissue Disease connective tissue disorder GenCC
Associations from Text Mining
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