GPSM3 G protein signaling modulator 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GPSM3provided by HGNC
Official Full Name: G protein signaling modulator 3provided by HGNC
Primary source: HGNC:HGNC:13945
See related: Ensembl:ENSG00000213654 MIM:618558; AllianceGenome:HGNC:13945
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: G18; NG1; AGS4; G18.2; C6orf9; G18.1a; G18.1b
Summary: Predicted to enable GTPase regulator activity. Predicted to be involved in positive regulation of inflammatory response. Predicted to act upstream of or within positive regulation of cytokine production involved in inflammatory response and positive regulation of leukocyte chemotaxis. Predicted to be located in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Broad expression in spleen (RPKM 56.7), lymph node (RPKM 55.9) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.32

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (32190766..32195523, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (32043955..32048712, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (32158543..32163300, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

role for GPSM3 in neutrophil migration toward proinflammatory chemoattractants LTB4 and CXCL8-a discovery that helps strengthen the association between the promoter-weakening GPSM3 SNP rs204989 and a reduced risk of rheumatoid arthritis
Title: Reduction of GPSM3 expression akin to the arthritis-protective SNP rs204989 differentially affects migration in a neutrophil model.
Genetic variations in GPSM3 which are associated with protection from rheumatoid arthritis affect its transcript abundance.
Title: Genetic variations in GPSM3 associated with protection from rheumatoid arthritis affect its transcript abundance.
findings suggest that GPSM3 acts as a direct negative regulator of NLRP3 function.
Title: G Protein signaling modulator-3 inhibits the inflammasome activity of NLRP3.
Phosphorylation of GPSM3 by a proline-directed serine/threonine kinase and the resultant association of 14-3-3 is the first description of post-translational regulation of GPSM3 subcellular localization
Title: Regulation of the subcellular localization of the G-protein subunit regulator GPSM3 through direct association with 14-3-3 protein.
GPSM3 increases Gbeta stability until formation of the Gbetagamma dimer, including association of the Gbeta-GPSM3 complex with phosducin-like protein PhLP and T-complex protein 1 subunit eta (CCT7), two known chaperones of neosynthesized Gbeta subunits.
Title: G-protein signaling modulator-3 regulates heterotrimeric G-protein dynamics through dual association with Gβ and Gαi protein subunits.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
AGS4-Galpha(i) complexes directly couple to a G-protein-coupled receptor and may serve as substrates for agonist-induced G-protein activation.
Title: Receptor-regulated interaction of activator of G-protein signaling-4 and Galphai.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Mutational analysis of the role of GoLoco motifs in guanine nucleotide dissociation inhibitor activity of G18 protein.
Title: Guanine nucleotide dissociation inhibitor activity of the triple GoLoco motif protein G18: alanine-to-aspartate mutation restores function to an inactive second GoLoco motif.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

WI-12121 (e-PCR)
- UniSTS:81412

PMC140667P2 (e-PCR)
- UniSTS:270957

WI-14626 (e-PCR)
- UniSTS:23917

RH46756 (e-PCR)
- UniSTS:15225

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase regulator activity	IEA Inferred from Electronic Annotation more info
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in biological_process	ND No biological Data available more info
involved_in positive regulation of cytokine production involved in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of inflammatory response	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of leukocyte chemotaxis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cellular_component	ND No biological Data available more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: G-protein-signaling modulator 3

Names: G-protein signaling modulator 3 (AGS3-like, C. elegans); G-protein signalling modulator 3 (AGS3-like, C. elegans); activator of G-protein signaling 4

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_001276501.2 → NP_001263430.1 G-protein-signaling modulator 3

See identical proteins and their annotated locations for NP_001263430.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

BC018724, DA979033

Consensus CDS

CCDS34419.1

UniProtKB/Swiss-Prot

A2BFJ3, Q9Y4H4

UniProtKB/TrEMBL

A0A024RCP6

Related

ENSP00000364180.3, ENST00000375040.8

Conserved Domains (1) summary

smart00390
Location:104 → 126

GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
NM_022107.3 → NP_071390.1 G-protein-signaling modulator 3

See identical proteins and their annotated locations for NP_071390.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AJ243937, AL662884

Consensus CDS

CCDS34419.1

UniProtKB/Swiss-Prot

A2BFJ3, Q9Y4H4

UniProtKB/TrEMBL

A0A024RCP6

Related

ENSP00000364183.3, ENST00000375043.3

Conserved Domains (1) summary

smart00390
Location:104 → 126

GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases