ABI1 - abl interactor 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10006

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
Molecular Function GO Annotation Evidence Verweise 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 Verweise 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 Verweise 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
  • 100
  • 200
  • 300
  • 400
  • 508 a.a.
Protein Preferred Names Protein Names

abl interactor 1

  • Abelson interactor 1

ABI1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
ABI1 Q8IZP0 RASA1 Homo sapiens P20936 20598684
Intra
ABI1 Q8IZP0 ABL2 Homo sapiens P42684 20598684
Intra
ABI1 Q8IZP0 SOCS7 Homo sapiens O14512 20598684
Intra
ABI1 Q8IZP0 VAV2 Homo sapiens P52735 20598684
Intra
ABI1 Q8IZP0 ABL1 Homo sapiens P00519 18328268
Intra
ABI1 Q8IZP0 ABL1 Homo sapiens P00519 20598684
Intra
ABI1 Q8IZP0 ABL1 Homo sapiens P00519
Y2H
11418237
Intra
ABI1 Q8IZP0 ABL1 Homo sapiens P00519 18328268
Cross
ABI1 Q8IZP0 Eps8 Mus musculus Q08509 15289329
Intra
ABI1 Q8IZP0 NCKAP1 Homo sapiens Q9Y2A7 26496610
Intra
ABI1 Q8IZP0 NCKAP1 Homo sapiens Q9Y2A7 31980649
Intra
ABI1 Q8IZP0 NCKAP1 Homo sapiens Q9Y2A7 15048123
Intra
ABI1 Q8IZP0 NCF1 Homo sapiens P14598
Y2H
12681507
Intra
ABI1 Q8IZP0 NCF1 Homo sapiens P14598 12681507
Intra
ABI1 Q8IZP0 VAV1 Homo sapiens P15498 20598684
Cross
ABI1 Q8IZP0 Pik3r1 Mus musculus P26450 20598684
Intra
ABI1 Q8IZP0 CBLB Homo sapiens Q13191 20598684
Intra
ABI1 Q8IZP0 PIK3R1 Homo sapiens P27986 20598684
Intra
ABI1 Q8IZP0 PIK3R3 Homo sapiens Q92569 20598684
Cross: Cross-species interaction Intra: Intraspecies interaction

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