1. Gene
  2. ABI3 - ABI family member 3 Gene

ABI3 - ABI family member 3 Gene

Homo sapiens

Also known as NESH; SSH3BP3

Gene ID: 51225 | Gene type: protein coding

About ABI3

Cytogenetic location: 17q21.32 Genomic coordinates (GRCh38): 17:49,210,707-49,223,225 (from NCBI)

This gene has 4 transcripts (splice variants), 181 orthologues and 2 paralogues. Broad expression in spleen (RPKM 23.3), lymph node (RPKM 10.1) and 21 other tissues.

Summary

This gene encodes a member of an adaptor protein family. Members of this family encode proteins containing a homeobox homology domain, proline rich region and Src-homology 3 (SH3) domain, and are components of the Abi/WAVE complex which regulates actin polymerization. The encoded protein inhibits ectopic metastasis of tumor cells as well as cell migration. This may be accomplished through interaction with p21-activated kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

ABI3 Products(2)

mRNA Protein Name
NM_001135186.2 NP_001128658.2 ABI gene family member 3 isoform 2
NM_016428.3 NP_057512.2 ABI gene family member 3 isoform 1

ABI3 Protein Structure

Abi_HHR

Abi_HHR: Abl-interactor HHR (93 - 165)

SH3_9

SH3_9: Variant SH3 domain (316 - 363)

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  • 366 a.a.
Protein Preferred Names Protein Names

ABI gene family member 3

new molecule including SH3

Related Diseases

Diseases Alias
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1

Nasu-Hakola Disease

Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy

Plosl

Nhd

Presenile Dementia With Bone Cysts

Plo-Sl

PLOSL1

Dementia, Prefrontal, With Bone Cysts

Dementia, Progressive, With Lipomembranous Polycystic Osteodysplasia

Brain-Bone-Fat Disease

Progressive Dementia With Lipomembranous Polycystic Osteodysplasia

Brain-Bone-Fat Disease

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
Rattus norvegicus ABI3 RGD RGD:1311794
Bos taurus ABI3 VGNC VGNC:25507
Mus musculus ABI3 MGD MGI:1913860
Felis catus ABI3 VGNC VGNC:59488
Macaca mulatta ABI3 VGNC VGNC:69549
Canis familiaris ABI3 VGNC VGNC:37476