ARHGDIA - Rho GDP dissociation inhibitor alpha Gene

Homo sapiens

Also known as GDIA1; NPHS8; RHOGDI; RHOGDI-1; HEL-S-47e

Gene ID: 396 | Gene type: protein coding

About ARHGDIA

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:81,867,721-81,871,337 (from NCBI)

This gene has 17 transcripts (splice variants), 278 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in colon (RPKM 69.2), fat (RPKM 67.4) and 25 other tissues.

Summary

This gene encodes a protein that plays a key role in the regulation of signaling through Rho GTPases. The encoded protein inhibits the disassociation of Rho family members from GDP (guanine diphosphate), thereby maintaining these factors in an inactive state. Activity of this protein is important in a variety of cellular processes, and expression of this gene may be altered in tumors. Mutations in this gene have been found in individuals with nephrotic syndrome, type 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

ARHGDIA Products(7)

mRNA	Protein	Name
NM_001185077.3	NP_001172006.1	rho GDP-dissociation inhibitor 1 isoform a
NM_001185078.3	NP_001172007.1	rho GDP-dissociation inhibitor 1 isoform b
NM_001301240.2	NP_001288169.1	rho GDP-dissociation inhibitor 1 isoform c
NM_001301241.2	NP_001288170.1	rho GDP-dissociation inhibitor 1 isoform c
NM_001301242.2	NP_001288171.1	rho GDP-dissociation inhibitor 1 isoform d
NM_001301243.2	NP_001288172.1	rho GDP-dissociation inhibitor 1 isoform e
NM_004309.6	NP_004300.1	rho GDP-dissociation inhibitor 1 isoform a

ARHGDIA Protein Structure

Rho_GDI

0
100
204 a.a.

Protein Preferred Names

Protein Names

rho GDP-dissociation inhibitor 1

GDP-dissociation inhibitor, aplysia RAS-related 1

Related Diseases

Diseases

Alias

Nephrotic Syndrome, Type 8

NPHS8	Nephrotic Syndrome Type 8
Nephrotic Syndrome 8

Genetic Steroid-Resistant Nephrotic Syndrome

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome	Genetic Srns
Hereditary Steroid-Resistant Nephrotic Syndrome	Familial Idiopathic Nephrotic Syndrome
Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive	Srn1

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome	Ns - [Nephrotic Syndrome]
Nephrosis Syndrome	Nephrosis Nos
Glomerular Lesion Nephrosis

Diffuse Mesangial Sclerosis

Familial Mesangial Sclerosis	Mesangial Sclerosis, Diffuse
Dms	Diffuse Isolated Mesangial Sclerosis
Isolated Diffuse Mesangial Sclerosis	Nephrotic Syndrome, Early Onset With Diffuse Mesangial Sclerosis

Osteogenesis Imperfecta, Type Xxi

OI21	Osteogenesis Imperfecta Type 21
Osteogenesis Imperfecta, Type 21	Osteogenesis Imperfecta Type Xxi
Osteogenesis Imperfecta 21

Articulation Disorder

Phonological Disorder	Articulation Disorders
Articulation Impairment	Speech Sound Disorders

Stuttering

Stammering	Familial Persistent Stuttering
Stuttering, Familial Persistent 1

Speech Disorder

Speech Disorders

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00943	ARHGDIA Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ARHGDIA	VGNC	VGNC:26101
Rattus norvegicus	ARHGDIA	RGD	RGD:1359547
Macaca mulatta	ARHGDIA	VGNC	VGNC:70010
Canis familiaris	ARHGDIA	VGNC	VGNC:38069
Mus musculus	ARHGDIA	MGD	MGI:2178103

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