GPSM1 G protein signaling modulator 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GPSM1provided by HGNC
Official Full Name: G protein signaling modulator 1provided by HGNC
Primary source: HGNC:HGNC:17858
See related: Ensembl:ENSG00000160360 MIM:609491; AllianceGenome:HGNC:17858
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AGS3
Summary: G-protein signaling modulators (GPSMs) play diverse functional roles through their interaction with G-protein subunits. This gene encodes a receptor-independent activator of G protein signaling, which is one of several factors that influence the basal activity of G-protein signaling systems. The protein contains seven tetratricopeptide repeats in its N-terminal half and four G-protein regulatory (GPR) motifs in its C-terminal half. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Expression: Broad expression in brain (RPKM 5.1), testis (RPKM 4.7) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.3

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (136327539..136359601)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (148556955..148588936)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (139221995..139254053)

Chromosome 9 - NC_000009.12 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?

Properties of biomolecular condensates defined by Activator of G-protein Signaling 3.
Title: Properties of biomolecular condensates defined by Activator of G-protein Signaling 3.
G-protein signaling modulator 1 promotes colorectal cancer metastasis by PI3K/AKT/mTOR signaling and autophagy.
Title: G-protein signaling modulator 1 promotes colorectal cancer metastasis by PI3K/AKT/mTOR signaling and autophagy.
Knockdown of GPSM1 Inhibits the Proliferation and Promotes the Apoptosis of B-Cell Acute Lymphoblastic Leukemia Cells by Suppressing the ADCY6-RAPGEF3-JNK Signaling Pathway.
Title: Knockdown of GPSM1 Inhibits the Proliferation and Promotes the Apoptosis of B-Cell Acute Lymphoblastic Leukemia Cells by Suppressing the ADCY6-RAPGEF3-JNK Signaling Pathway.
Depletion of GPSM1 enhances ovarian granulosa cell apoptosis via cAMP-PKA-CREB pathway in vitro.
Title: Depletion of GPSM1 enhances ovarian granulosa cell apoptosis via cAMP-PKA-CREB pathway in vitro.
AGS3 and Galphai3 Are Concomitantly Upregulated as Part of the Spindle Orientation Complex during Differentiation of Human Neural Progenitor Cells.
Title: AGS3 and Gα(i3) Are Concomitantly Upregulated as Part of the Spindle Orientation Complex during Differentiation of Human Neural Progenitor Cells.
Genome-wide meta-analysis associates GPSM1 with type 2 diabetes, a plausible gene involved in skeletal muscle function.
Title: Genome-wide meta-analysis associates GPSM1 with type 2 diabetes, a plausible gene involved in skeletal muscle function.
the data indicate that the effect of AGS3 in prostate cancer development and progression is probably mediated via a MAPK/AR-dependent pathway.
Title: Activator of G protein signaling 3 modulates prostate tumor development and progression.
The G-protein Regulatory motif of AGS3 is critical for regulating MUC1/Muc1 expression and cytokine production in the inflammatory microenvironment.
Title: Regulation of Airway Inflammation by G-protein Regulatory Motif Peptides of AGS3 protein.
Data support the notion that the Galpha, but not Gbetagamma, arm of the Gi/o signalling is involved in TRPC4 activation and unveil new roles for RGS and AGS3 in fine-tuning TRPC4 activities.
Title: Regulator of G-protein signalling and GoLoco proteins suppress TRPC4 channel function via acting at Gαi/o.
Activator of G-protein Signaling 3 is an important regulator of esophageal squamous cell carcinoma proliferation
Title: Overexpression of activator of G-protein signaling 3 decreases the proliferation of esophageal squamous cell carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (25)

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

EBI GWAS Catalog

Description
Genome-wide association study identifies three novel loci for type 2 diabetes. 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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G-protein alpha-subunit binding	IBA Inferred from Biological aspect of Ancestor more info
enables GDP-dissociation inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables GDP-dissociation inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in establishment of mitotic spindle orientation	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of GTPase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of guanyl-nucleotide exchange factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in nervous system development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of macroautophagy	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
colocalizes_with Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with cell cortex	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
colocalizes_with endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: G-protein-signaling modulator 1

Names: G-protein signalling modulator 1 (AGS3-like, C. elegans); activator of G-protein signaling 3

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.

Genomic

NG_028088.2 RefSeqGene

Range

4996..37058

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001145638.3 → NP_001139110.2 G-protein-signaling modulator 1 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a, also known as AGS3-FL).

Source sequence(s)

AY173053, BC009979, BC017257, BQ214873

Consensus CDS

CCDS48055.1

UniProtKB/Swiss-Prot

A9Z1X4, B1B0W3, Q86SR5, Q86YR5, Q969T1, Q9UFS8

UniProtKB/TrEMBL

A0A0A0MSK4

Related

ENSP00000392828.1, ENST00000440944.6

Conserved Domains (6) summary

smart00390
Location:596 → 618

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

sd00006
Location:250 → 277

TPR; TPR repeat [structural motif]

pfam00515
Location:250 → 278

TPR_1; Tetratricopeptide repeat

pfam02188
Location:496 → 517

GoLoco; GoLoco motif

pfam13176
Location:291 → 325

TPR_7; Tetratricopeptide repeat

pfam13424
Location:210 → 281

TPR_12; Tetratricopeptide repeat
NM_001145639.2 → NP_001139111.1 G-protein-signaling modulator 1 isoform c

See identical proteins and their annotated locations for NP_001139111.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks multiple 5' coding exons, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (c, also known as AGS3-SHORT) is shorter at the N-terminus, compared to isoform a. Both variants 3 and 4 encode the same isoform (c).

Source sequence(s)

AY173053, BC017257, BI766024, BQ214873, BX649589

Consensus CDS

CCDS48056.1

UniProtKB/Swiss-Prot

Q86YR5

Related

ENSP00000390705.1, ENST00000429455.5

Conserved Domains (1) summary

pfam02188
Location:122 → 143

GoLoco; GoLoco motif
NM_001200003.2 → NP_001186932.1 G-protein-signaling modulator 1 isoform c

See identical proteins and their annotated locations for NP_001186932.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, lacks multiple 5' coding exons, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (c, also known as AGS3-SHORT) is shorter at the N-terminus, compared to isoform a. Both variants 3 and 4 encode the same isoform (c).

Source sequence(s)

AL545250, AY173053, BC017257, BC048343, BX649589

Consensus CDS

CCDS48056.1

UniProtKB/Swiss-Prot

Q86YR5

Related

ENSP00000376673.1, ENST00000392944.5

Conserved Domains (1) summary

pfam02188
Location:122 → 143

GoLoco; GoLoco motif
NM_001412257.1 → NP_001399186.1 G-protein-signaling modulator 1 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (5) uses the same exon combination as variant 2 but represents the allele encoded by the T2T-CHM13v2.0 genome assembly. The encoded isoform (d) has a frameshifted C-terminus compared to isoform b.

Source sequence(s)

CP068269
NM_015597.6 → NP_056412.5 G-protein-signaling modulator 1 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks multiple 3' exons and its transcription extends past a splice site used in variant 1, resulting in a distinct 3' coding region and 3' UTR. This variant represents the allele encoded by the GRCh38 reference genome and encodes isoform b, which has a distinct C-terminus and is shorter than isoform a.

Source sequence(s)

AC174065, BC009979

Consensus CDS

CCDS6996.2

UniProtKB/TrEMBL

A0A087WVF5

Related

ENSP00000479405.1, ENST00000616132.4

Conserved Domains (5) summary

sd00006
Location:250 → 277

TPR; TPR repeat [structural motif]

pfam00515
Location:250 → 278

TPR_1; Tetratricopeptide repeat

pfam13176
Location:291 → 325

TPR_7; Tetratricopeptide repeat

pfam13424
Location:210 → 281

TPR_12; Tetratricopeptide repeat

cl14649
Location:73 → 160

BRO1_Alix_like; Protein-interacting Bro1-like domain of mammalian Alix and related domains