1. Gene
  2. ABI1 - abl interactor 1 Gene

ABI1 - abl interactor 1 Gene

Homo sapiens

Also known as E3B1; ABI-1; ABLBP4; NAP1BP; SSH3BP; SSH3BP1

Gene ID: 10006 | Gene type: protein coding

About ABI1

Cytogenetic location: 10p12.1 Genomic coordinates (GRCh38): 10:26,746,596-26,860,958 (from NCBI)

This gene has 13 transcripts (splice variants), 292 orthologues, 2 paralogues and is associated with 62 phenotypes. Ubiquitous expression in bone marrow (RPKM 23.2), esophagus (RPKM 19.6) and 25 other tissues.

Summary

This gene encodes a member of the Abelson-interactor family of adaptor proteins. These proteins facilitate signal transduction as components of several multiprotein complexes, and regulate actin polymerization and cytoskeletal remodeling through interactions with Abelson tyrosine kinases. The encoded protein plays a role in macropinocytosis as a component of the WAVE2 complex, and also forms a complex with EPS8 and SOS1 that mediates signal transduction from Ras to Rac. This gene may play a role in the progression of several malignancies including melanoma, colon Cancer and breast Cancer, and a t(10;11) chromosomal translocation involving this gene and the MLL gene has been associated with acute myeloid leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 14. [provided by RefSeq, Sep 2011]

ABI1 Products(19)

mRNA Protein Name
NM_001012750.3 NP_001012768.1 abl interactor 1 isoform b
NM_001012751.3 NP_001012769.1 abl interactor 1 isoform c
NM_001012752.3 NP_001012770.1 abl interactor 1 isoform d
NM_001178116.2 NP_001171587.1 abl interactor 1 isoform e
NM_001178119.2 NP_001171590.1 abl interactor 1 isoform f
NM_001178120.2 NP_001171591.1 abl interactor 1 isoform g
NM_001178121.2 NP_001171592.1 abl interactor 1 isoform h
NM_001178122.2 NP_001171593.1 abl interactor 1 isoform i
NM_001178123.2 NP_001171594.1 abl interactor 1 isoform j
NM_001178124.2 NP_001171595.1 abl interactor 1 isoform k
NM_001178125.2 NP_001171596.1 abl interactor 1 isoform l
NM_001348029.2 NP_001334958.1 abl interactor 1 isoform m
NM_001348030.2 NP_001334959.1 abl interactor 1 isoform n
NM_001348031.2 NP_001334960.1 abl interactor 1 isoform o
NM_001348032.2 NP_001334961.1 abl interactor 1 isoform p
NM_001348033.2 NP_001334962.1 abl interactor 1 isoform q
NM_001348034.2 NP_001334963.1 abl interactor 1 isoform r
NM_001410909.1 NP_001397838.1 abl interactor 1 isoform s
NM_005470.4 NP_005461.2 abl interactor 1 isoform a
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables SH3 domain binding IPI
IPI: Inferred from physical interaction
19798448 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
9010225 GOA
enables signaling adaptor activity IDA
IDA: Inferred from direct assay
17101133 GOA
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within positive regulation of protein tyrosine kinase activity IDA
IDA: Inferred from direct assay
17101133 GOA
Cellular Component GO Annotation Evidence Reference Source
part of SCAR complex IDA
IDA: Inferred from direct assay
21107423 GOA
located in filopodium tip IDA
IDA: Inferred from direct assay
11516653 GOA
located in lamellipodium IDA
IDA: Inferred from direct assay
11516653 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ABI1 Protein Structure

Abi_HHR

Abi_HHR: Abl-interactor HHR (93 - 171)

SH3_1

SH3_1: SH3 domain (452 - 496)

  • 0
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  • 400
  • 508 a.a.
Protein Preferred Names Protein Names

abl interactor 1

Abelson interactor 1

Related Diseases

Diseases Alias
Leukemia

Leukemias

Leukaemia, Unspecified, Without Mention Of Remission

Aleukemic Leukaemia

Chronic Leukaemia

Subacute Leukaemia

Leukaemia Disorder

Leukaemia Nos

Human Granulocytic Anaplasmosis

Human Granulocytic Ehrlichiosis

Hge

Human Ehrlichial Infection, Human Granulocytic Type

Human Anaplasmosis Due To Anaplasma Phagocytophilum

Melanoma

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta ABI1 VGNC VGNC:69377
Canis familiaris ABI1 VGNC VGNC:37474
Felis catus ABI1 VGNC VGNC:83485
Rattus norvegicus ABI1 RGD RGD:621008
Mus musculus ABI1 MGD MGI:104913
Bos taurus ABI1 VGNC VGNC:25505
Others ABI1 NCBI