RALGDS - ral guanine nucleotide dissociation stimulator Gene

Also Known as RGF; RGDS; RalGEF

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5900

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
Molecular Function GO Annotation Evidence References 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 References 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
  • 200
  • 400
  • 600
  • 800
  • 914 a.a.
Protein Preferred Names Protein Names

ral guanine nucleotide dissociation stimulator

  • ral guanine nucleotide exchange factor

RALGDS Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
RALGDS Q12967 HRAS Homo sapiens P01112
PLA
25241761
Intra
RALGDS Q12967 RAP1B Homo sapiens P61224 22705156
Intra
RALGDS Q12967 RAP1B Homo sapiens P61224
Y2H
21988832
Cross: Cross-species interaction Intra: Intraspecies interaction

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
Others RALGDS NCBI