1. Gene
  2. RALGDS - ral guanine nucleotide dissociation stimulator Gene

RALGDS - ral guanine nucleotide dissociation stimulator Gene

Homo sapiens

Also known as RGF; RGDS; RalGEF

Gene ID: 5900 | Gene type: protein coding

About RALGDS

Cytogenetic location: 9q34.13-q34.2 Genomic coordinates (GRCh38): 9:133,097,722-133,149,210 (from NCBI)

This gene has 15 transcripts (splice variants), 329 orthologues, 24 paralogues and is associated with 69 phenotypes. Ubiquitous expression in skin (RPKM 22.8), gall bladder (RPKM 22.0) and 25 other tissues.

Summary

Guanine nucleotide dissociation stimulators (GDSs, or exchange factors), such as RALGDS, are effectors of Ras-related GTPases (see MIM 190020) that participate in signaling for a variety of cellular processes.[supplied by OMIM, Nov 2010]

RALGDS Products(5)

mRNA Protein Name
NM_001042368.3 NP_001035827.1 ral guanine nucleotide dissociation stimulator isoform 2
NM_001271774.2 NP_001258703.1 ral guanine nucleotide dissociation stimulator isoform 3
NM_001271775.2 NP_001258704.1 ral guanine nucleotide dissociation stimulator isoform 4
NM_001271776.2 NP_001258705.1 ral guanine nucleotide dissociation stimulator isoform 5
NM_006266.4 NP_006257.1 ral guanine nucleotide dissociation stimulator isoform 1
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables GTPase regulator activity IDA
IDA: Inferred from direct assay
7972015 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
20936779 GOA
Cellular Component GO Annotation Evidence Reference Source
located in brush border IDA
IDA: Inferred from direct assay
22797597 GOA
located in cytosol IDA
IDA: Inferred from direct assay
22797597 GOA
located in nucleus IDA
IDA: Inferred from direct assay
22797597 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

RALGDS Protein Structure

RasGEF_N

RasGEF_N: RasGEF N-terminal motif (115 - 225)

RasGEF

RasGEF: RasGEF domain (385 - 597)

RA

RA: Ras association (RalGDS/AF-6) domain (798 - 884)

  • 0
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  • 800
  • 914 a.a.
Protein Preferred Names Protein Names

ral guanine nucleotide dissociation stimulator

ral guanine nucleotide exchange factor

Related Diseases

Diseases Alias
Malignant Otitis Externa

Necrotising Otitis Externa

Pseudomonas Aeruginosa Osteomyelitis Of The Temporal Bone

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

Cardiofaciocutaneous Syndrome 1

Cardiofaciocutaneous Syndrome

Cfc Syndrome

Cardio-Facio-Cutaneous Syndrome

CFC1

Cfcs

Cardio-Facial-Cutaneous Syndrome

Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities And Growth Failure

Cardiofaciocutaneous Syndrome, Type 1

Noonan Syndrome 1

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

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 RALGDS RGD RGD:3533
Mus musculus RALGDS MGD MGI:107485
Macaca fascicularis RALGDS NCBI NCBI:102121408
Others RALGDS NCBI