1. Gene
  2. ARHGEF1 - Rho guanine nucleotide exchange factor 1 Gene

ARHGEF1 - Rho guanine nucleotide exchange factor 1 Gene

Homo sapiens

Also known as LSC; GEF1; IMD62; LBCL2; SUB1.5; P115-RHOGEF

Gene ID: 9138 | Gene type: protein coding

About ARHGEF1

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:41,883,184-41,930,141 (from NCBI)

This gene has 26 transcripts (splice variants), 201 orthologues, 8 paralogues and is associated with 1 phenotype. Broad expression in spleen (RPKM 68.4), lymph node (RPKM 64.2) and 24 other tissues.

Summary

Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]

ARHGEF1 Products(8)

mRNA Protein Name
NM_001396000.1 NP_001382929.1 rho guanine nucleotide exchange factor 1 isoform 4
NM_001396002.1 NP_001382931.1 rho guanine nucleotide exchange factor 1 isoform 5
NM_001396003.1 NP_001382932.1 rho guanine nucleotide exchange factor 1 isoform 6
NM_001396004.1 NP_001382933.1 rho guanine nucleotide exchange factor 1 isoform 7
NM_001396006.1 NP_001382935.1 rho guanine nucleotide exchange factor 1 isoform 8
NM_004706.4 NP_004697.2 rho guanine nucleotide exchange factor 1 isoform 2
NM_198977.2 NP_945328.1 rho guanine nucleotide exchange factor 1 isoform 3
NM_199002.2 NP_945353.1 rho guanine nucleotide exchange factor 1 isoform 1

ARHGEF1 Protein Structure

RGS-like

RGS-like: Regulator of G protein signalling-like domain (42 - 232)

RhoGEF

RhoGEF: RhoGEF domain (420 - 604)

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  • 912 a.a.
Protein Preferred Names Protein Names

rho guanine nucleotide exchange factor 1

115 kDa guanine nucleotide exchange factor

Related Diseases

Diseases Alias
Immunodeficiency 62

IMD62

Skin Lipoma

Lipoma Of Skin

Cutaneous Lipoma

Cutaneous Lipomatous Tumor

Lipoma Of Face

Cutaneous Lipomatous Neoplasm

Megaesophagus

Esophageal Achalasia

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
Mus musculus ARHGEF1 MGD MGI:1353510
Macaca mulatta ARHGEF1 VGNC VGNC:70012
Rattus norvegicus ARHGEF1 RGD RGD:620951
Bos taurus ARHGEF1 VGNC VGNC:52179
Felis catus ARHGEF1 VGNC VGNC:107050