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RALGDS ral guanine nucleotide dissociation stimulator [ Homo sapiens (human) ]

Gene ID: 5900, updated on 2-Nov-2024

Summary

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Official Symbol
RALGDSprovided by HGNC
Official Full Name
ral guanine nucleotide dissociation stimulatorprovided by HGNC
Primary source
HGNC:HGNC:9842
See related
Ensembl:ENSG00000160271 MIM:601619; AllianceGenome:HGNC:9842
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RGF; RGDS; RalGEF
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]
Expression
Ubiquitous expression in skin (RPKM 22.8), gall bladder (RPKM 22.0) and 25 other tissues See more
Orthologs
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Genomic context

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See RALGDS in Genome Data Viewer
Location:
9q34.13-q34.2
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (133097722..133149210, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (145311872..145363296, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (135973109..136024597, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135965875-135966376 Neighboring gene small nucleolar RNA U13 Neighboring gene carboxyl ester lipase pseudogene Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:135976589-135977788 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29228 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:135995531-135996227 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20442 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20443 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20444 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20445 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:136002206-136003405 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136008097-136008641 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29229 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29230 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29231 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29232 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29233 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136019197-136019756 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20446 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20447 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136024237-136024884 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136038755-136039477 Neighboring gene globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136062831-136063698 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136075403-136076124 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:136081856-136082043 Neighboring gene odorant binding protein 2B

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Structure characterization of human RalGDS gene, and the identification of its novel variant. Zheng Q, et al. Mol Biol Rep, 2000. PMID 11455956
  2. Activation of Ras-Ral pathway attenuates p53-independent DNA damage G2 checkpoint. Agapova LS, et al. J Biol Chem, 2004 Aug 27. PMID 15208305
  3. No evidence of RALGDS mutations in cutaneous melanoma. Omholt K, et al. Melanoma Res, 2007 Dec. PMID 17992125
  4. Guanine exchange factor RalGDS mediates exocytosis of Weibel-Palade bodies from endothelial cells. Rondaij MG, et al. Blood, 2008 Jul 1. PMID 18417737
  5. [Refined chromosome assignment of human novel H-RalGDS gene on chromosome 9q34.1 by using radiation hybrid genebridge 4 panel]. Zheng Q, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2000 Feb. PMID 10653898

See all (59) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Investigated is the role that electrostatic field differences caused by the charge reversal mutation Rap1A K31E play in determining the binding specificity of RalGDS to Rap1A versus Ras.
    Title: Role of electrostatics in differential binding of RalGDS to Rap mutations E30D and K31E investigated by vibrational spectroscopy of thiocyanate probes.
  2. Studies provide models for Ras in association with Raf kinase, RalGDS and PI3Kalpha and PI3Kgamma.
    Title: Ras classical effectors: new tales from in silico complexes.
  3. RalGDS and RalA act downstream of Rheb and that RalA activation is a crucial step in nutrient-induced mTORC1 activation
    Title: RalA functions as an indispensable signal mediator for the nutrient-sensing system.
  4. overexpression of RalGDS promotes exocytosis of Weibel-Palade bodies from endothelial cells
    Title: Guanine exchange factor RalGDS mediates exocytosis of Weibel-Palade bodies from endothelial cells.
  5. results of screening suggest that RALGDS is not mutationally altered in cutaneous melanoma
    Title: No evidence of RALGDS mutations in cutaneous melanoma.
  6. These data extend understanding of the functional roles of the Ral pathway and begin to identify signaling pathways relevant for organ-specific metastasis.
    Title: Activation of the RalGEF/Ral pathway promotes prostate cancer metastasis to bone.
  7. identified Ral-GDS as a beta-arrestin-binding protein by yeast two-hybrid screening and co-immunoprecipitation from human polymorphonuclear neutrophilic leukocytes
    Title: Beta-arrestins regulate a Ral-GDS Ral effector pathway that mediates cytoskeletal reorganization.
  8. Merlin can function as a tumor suppressor by inhibiting the RalGDS-mediated oncogenic signals.
    Title: The merlin tumor suppressor interacts with Ral guanine nucleotide dissociation stimulator and inhibits its activity.
  9. involved in regulation of choline kinase activity by Ras proteins
    Title: Regulation of choline kinase activity by Ras proteins involves Ral-GDS and PI3K.
  10. RALGDS has a role in attenuating p53-independent DNA damage G2 checkpoint
    Title: Activation of Ras-Ral pathway attenuates p53-independent DNA damage G2 checkpoint.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: GBGT1

Homology

Clone Names

  • FLJ20922

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase regulator activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables GTPase regulator activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in Ras protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in brush border IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
ral guanine nucleotide dissociation stimulator
Names
ral guanine nucleotide exchange factor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001042368.3 → NP_001035827.1  ral guanine nucleotide dissociation stimulator isoform 2

    See identical proteins and their annotated locations for NP_001035827.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region and represents use of an alternate promoter, compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AF027169, BC033198, BC059362, HY002335
    Consensus CDS
    CCDS43897.1
    UniProtKB/TrEMBL
    A0A2R8Y471
    Related
    ENSP00000376867.3, ENST00000393160.7
    Conserved Domains (3) summary
    cd00153
    Location:743 → 828
    RalGDS_RA; Ubiquitin domain of RalGDS-like factor (RLF) and related proteins
    smart00229
    Location:57 → 193
    RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
    cd00155
    Location:327 → 589
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...

  2. NM_001271774.2 → NP_001258703.1  ral guanine nucleotide dissociation stimulator isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region and represents use of an alternate promoter, compared to variant 1. This variant also uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (3) is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AF295773, AK301470, AL162417, BC033198, BC059362, DC339956
    Consensus CDS
    CCDS65174.1
    UniProtKB/TrEMBL
    A0A2R8Y471
    Related
    ENSP00000361132.3, ENST00000372062.8
    Conserved Domains (3) summary
    cd00153
    Location:769 → 854
    RalGDS_RA; Ubiquitin domain of RalGDS-like factor (RLF) and related proteins
    smart00229
    Location:95 → 219
    RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
    cd00155
    Location:353 → 615
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...

  3. NM_001271775.2 → NP_001258704.1  ral guanine nucleotide dissociation stimulator isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and 5' coding region and represents use of an alternate promoter, compared to variant 1. The encoded isoform (4) has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK127524, AL162417, BC033198, BC059362
    Consensus CDS
    CCDS65173.1
    UniProtKB/TrEMBL
    A0A2R8Y471
    Related
    ENSP00000376864.3, ENST00000393157.8
    Conserved Domains (3) summary
    cd00153
    Location:797 → 882
    RalGDS_RA; Ubiquitin domain of RalGDS-like factor (RLF) and related proteins
    smart00229
    Location:111 → 247
    RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
    cd00155
    Location:381 → 643
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...

  4. NM_001271776.2 → NP_001258705.1  ral guanine nucleotide dissociation stimulator isoform 5

    See identical proteins and their annotated locations for NP_001258705.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (5) is shorter than isoform 1.
    Source sequence(s)
    AF295773, BC033198, BC059362, DR003030
    Consensus CDS
    CCDS65172.1
    UniProtKB/TrEMBL
    Q8TEK9
    Related
    ENSP00000361117.3, ENST00000372047.7
    Conserved Domains (3) summary
    cd00153
    Location:786 → 871
    RalGDS_RA; Ubiquitin domain of RalGDS-like factor (RLF) and related proteins
    smart00229
    Location:112 → 236
    RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
    cd00155
    Location:370 → 632
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...

  5. NM_006266.4 → NP_006257.1  ral guanine nucleotide dissociation stimulator isoform 1

    See identical proteins and their annotated locations for NP_006257.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AF295773, BC033198, BC059362, DB480866, DR003030
    Consensus CDS
    CCDS6959.1
    UniProtKB/Swiss-Prot
    B7Z753, E7ER93, E7ERZ0, Q12967, Q5T7V4, Q6KH11, Q6PCE1, Q6ZSD5, Q9HAX7, Q9HAY1, Q9HCT1, Q9P2N8
    UniProtKB/TrEMBL
    Q8TEK9
    Related
    ENSP00000361120.3, ENST00000372050.8
    Conserved Domains (3) summary
    cd00153
    Location:798 → 883
    RalGDS_RA; Ubiquitin domain of RalGDS-like factor (RLF) and related proteins
    smart00229
    Location:112 → 248
    RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
    cd00155
    Location:382 → 644
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    133097722..133149210 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    145311872..145363296 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q12967.2 GenPept UniProtKB/Swiss-Prot:Q12967

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