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

ABI1 Protein Structure

Abi_HHR

SH3_1

0
100
200
300
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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00098	ABI1 Human Pre-designed siRNA Set A		/	Unkown

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