Abl1 MGI Mouse Gene Detail - MGI:87859 - c-abl oncogene 1, non-receptor tyrosine kinase

Symbol

Abl1
Name

c-abl oncogene 1, non-receptor tyrosine kinase
Synonyms

c-Abl, E430008G22Rik

Feature Type

protein coding gene
IDs

MGI:87859
NCBI Gene: 11350
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr2:31578388-31694239 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 21.86 cM, cytoband B
Mapping Data

55 experiments

SNPs within 2kb

2374 from dbSNP Build 142
Strain Annotations

18
RFLP

11

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_87859	protein coding gene	Chr2:31578256-31697105 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0025589	protein coding gene	Chr2:30047193-30183001 (+)
A/J	MGP_AJ_G0025567	protein coding gene	Chr2:28807505-28932795 (+)
AKR/J	MGP_AKRJ_G0025536	protein coding gene	Chr2:29786693-29927623 (+)
BALB/cJ	MGP_BALBcJ_G0025563	protein coding gene	Chr2:28938064-29059960 (+)
C3H/HeJ	MGP_C3HHeJ_G0025324	protein coding gene	Chr2:29715418-29841478 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0026008	protein coding gene	Chr2:30990471-31125186 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0023416	protein coding gene	Chr2:27564487-27677473 (+)
CAST/EiJ	MGP_CASTEiJ_G0024786	protein coding gene	Chr2:29659467-29784750 (+)
CBA/J	MGP_CBAJ_G0025301	protein coding gene	Chr2:32101781-32252813 (+)
DBA/2J	MGP_DBA2J_G0025434	protein coding gene	Chr2:28582488-28706744 (+)
FVB/NJ	MGP_FVBNJ_G0025397	protein coding gene	Chr2:28440445-28556670 (+)
LP/J	MGP_LPJ_G0025520	protein coding gene	Chr2:29936732-30056888 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0025427	protein coding gene	Chr2:31860458-31991498 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0026066	protein coding gene	Chr2:29710761-29842418 (+)
PWK/PhJ	MGP_PWKPhJ_G0024533	protein coding gene	Chr2:28481689-28597298 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0024333	protein coding gene	Chr2:29857476-29980766 (+)
WSB/EiJ	MGP_WSBEiJ_G0024854	protein coding gene	Chr2:29882181-30017094 (+)

Human Ortholog

ABL1, ABL proto-oncogene 1, non-receptor tyrosine kinase

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ABL1, ABL proto-oncogene 1, non-receptor tyrosine kinase
Synonyms

ABL, bcr/abl, BCR-ABL, c-ABL, c-ABL1, CHDSKM, JTK7, p150, v-abl
Links

HGNC:76

NCBI Gene ID: 25

neXtProt AC: NX_P00519

UniProt: P00519
Chr Location

9q34.12; chr9:130713043-130887675 (+) GRCh38

MGI Vertebrate Homology

Abl1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: ABL1
Gene Tree

Abl1

Diseases

6 with human ABL1 associations

				Human Disease	Mouse Models
				acute myeloid leukemia IDs acute myeloid leukemia DOID:9119 DOID:9118 DOID:9171 ICD10CM:C92.0 ICD9CM:205.0 KEGG:05221 MESH:D015470 NCI:C3171 OMIM:601626 UMLS_CUI:C0023467
				B-lymphoblastic leukemia/lymphoma IDs B-lymphoblastic leukemia/lymphoma DOID:0080630 NCI:C8936 UMLS_CUI:C0862030
				chronic myeloid leukemia IDs chronic myeloid leukemia DOID:8552 DOID:8551 DOID:8606 EFO:0000339 ICD9CM:205.1 KEGG:05220 OMIM:608232 ORDO:521 UMLS_CUI:C0023473
				colorectal cancer IDs colorectal cancer DOID:9256 ICD10CM:C18.9 KEGG:05210 MESH:D015179 NCI:C2956 NCI:C4978 OMIM:114500 UMLS_CUI:C0009404 UMLS_CUI:C0346629
				esophagus adenocarcinoma IDs esophagus adenocarcinoma DOID:4914 MESH:C562730 NCI:C4025 UMLS_CUI:C0279628
				oral squamous cell carcinoma IDs oral squamous cell carcinoma DOID:0050866

Click on a disease name to see all genes associated with that disease.

less

Phenotype Summary

78 phenotypes from 11 alleles in 13 genetic backgrounds
37 phenotypes from multigenic genotypes
82 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

59
Endonuclease-mediated

3
Gene trapped

40
Targeted

12
Transgenic

4
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

93 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for targeted mutations that inactivate the gene have increased perinatal and postnatal mortality and may display foreshortened crania, abnormal development of spleen, head, heart and eye, reduced B and T cell populations, and osteoporosis.

less

All GO Annotations

256
GO References

62

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

less

Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

981
Tissues

137
cDNA Data

223
Literature Summary

27

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase abl1

ZFIN abl1

less

All Sequences

110
RefSeq

12
UniProt

10
CCDS

CCDS15901.1, CCDS50563.1

Ensembl

ENSMUSG00000026842 (Evidence)
NCBI Gene

11350

			Length	Strain/Species	Flank
genomic	ENSMUSG00000026842	Ensembl Gene Model \| MGI Sequence Detail	115852	C57BL/6J	± kb
transcript	ENSMUST00000075759	Ensembl \| MGI Sequence Detail	6327	Not Applicable
polypeptide	ENSMUSP00000075167	Ensembl \| MGI Sequence Detail	1142	Not Applicable

less

UniProt

10 Sequences
Protein Ontology

PR:000003582 tyrosine-protein kinase ABL1

(term hierarchy)
PDB

1ABO, 1ABQ, 1FPU, 1IEP, 1M52, 1OPJ, 1OPK, 2HZN, 2QOH, 2Z60, 3DK3, 3DK6, 3DK7, 3IK3, 3K5V, 3KF4, 3KFA, 3MS9, 3MSS, 3OXZ, 3OY3, 5IH2, 6HD4, 6HD6
EC

2.7.10.2
InterPro Domains

IPR015015 F-actin binding

IPR050198 Non-receptor tyrosine kinases involved in cell signaling

IPR017441 Protein kinase, ATP binding site

IPR000719 Protein kinase domain

IPR011009 Protein kinase-like domain superfamily

IPR001245 Serine-threonine/tyrosine-protein kinase, catalytic domain

IPR000980 SH2 domain

IPR036860 SH2 domain superfamily

IPR001452 SH3 domain

IPR036028 SH3-like domain superfamily

IPR035837 Tyrosine-protein kinase ABL, SH2 domain

IPR008266 Tyrosine-protein kinase, active site

IPR020635 Tyrosine-protein kinase, catalytic domain
GlyGen

P00520 1 site, 1 O-linked glycan (1 site)

less

All nucleic 249

Genomic 14

cDNA 224

Primer pair 2

Other 9

Microarray probesets 5

less

MGD-MRK-1015, MGI:2138905, MGI:2443781

Summaries

All 290

Developmental Gene Expression 27

Gene Ontology 62

Phenotypes 82
Earliest

J:6037 Risser R, et al., Abelson antigen: a viral tumor antigen that is also a differentiation antigen of BALB/c mice. Proc Natl Acad Sci U S A. 1978 Aug;75(8):3918-22
Latest

J:349813 Chandia-Cristi A, et al., Prophylactic treatment with the c-Abl inhibitor, neurotinib, diminishes neuronal damage and the convulsive state in pilocarpine-induced mice. Cell Rep. 2024 May 28;43(5):114144

TSS for Abl1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr17212	Chr2:31578342-31578398 (+)	-18 bp
Tssr17213	Chr2:31578413-31578427 (+)	32 bp
Tssr17214	Chr2:31578537-31578572 (+)	167 bp
Tssr17215	Chr2:31649913-31649933 (+)	71,535 bp
Tssr17216	Chr2:31649944-31650001 (+)	71,585 bp
Tssr17217	Chr2:31650005-31650035 (+)	71,632 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24