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

Summary

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: mouse all
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Genomic context

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_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
results of screening suggest that RALGDS is not mutationally altered in cutaneous melanoma
Title: No evidence of RALGDS mutations in cutaneous melanoma.
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.
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.
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.
involved in regulation of choline kinase activity by Ras proteins
Title: Regulation of choline kinase activity by Ras proteins involves Ral-GDS and PI3K.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-112288 (e-PCR)
- UniSTS:184874

RH11981 (e-PCR)
- UniSTS:77618

MARC_3723-3724:991937466:5 (e-PCR)
- UniSTS:231047

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)

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. ...
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. ...
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. ...
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. ...
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. ...