GMIP GEM interacting protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: GMIPprovided by HGNC
Official Full Name: GEM interacting proteinprovided by HGNC
Primary source: HGNC:HGNC:24852
See related: Ensembl:ENSG00000089639 MIM:609694; AllianceGenome:HGNC:24852
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: ARHGAP46
Summary: This gene encodes a member of the ARHGAP family of Rho/Rac/Cdc42-like GTPase activating proteins. The encoded protein interacts with the Ras-related protein Gem through its N-terminal domain. Separately, it interacts with RhoA through a RhoGAP domain, and stimulates RhoA-dependent GTPase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Expression: Broad expression in spleen (RPKM 20.3), bone marrow (RPKM 16.1) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.11

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (19629476..19643657, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (19766986..19781167, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (19740285..19754466, complement)

Chromosome 19 - NC_000019.10 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
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?

These findings demonstrate a new role of Gem/Gmip/RhoA signaling in cortical actin regulation during early mitotic stages
Title: Gem GTPase acts upstream Gmip/RhoA to regulate cortical actin remodeling and spindle positioning during early mitosis.
during exocytosis, actin depolymerization commences near the secretory organelle, not the plasma membrane, and secretory granules use a JFC1- and GMIP-dependent molecular mechanism to traverse cortical actin.
Title: Vesicular trafficking through cortical actin during exocytosis is regulated by the Rab27a effector JFC1/Slp1 and the RhoA-GTPase-activating protein Gem-interacting protein.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Poor replication of candidate genes for major depressive disorder using genome-wide association data.
signalling pathways controlled by two proteins of the Ras superfamily, RhoA and Gem, are linked via the action of the RhoGAP protein Gmip
Title: A novel Rho GTPase-activating-protein interacts with Gem, a member of the Ras superfamily of GTPases.
Variations in the GMIP gene can confer susceptibility to major depressive disorder.
Title: The Gem interacting protein (GMIP) gene is associated with major depressive disorder.

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

EBI GWAS Catalog

Description
Genome-wide association analysis identifies 13 new risk loci for schizophrenia. 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

RH98505 (e-PCR)
- UniSTS:90413

GMIP (e-PCR)
- UniSTS:505738

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables GTPase activator activity	TAS Traceable Author Statement more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in activation of GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of GTPase activity	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 regulation of small GTPase mediated signal transduction	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: GEM-interacting protein

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_001288998.2 → NP_001275927.1 GEM-interacting protein isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site and lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.

Source sequence(s)

AK297220, BC126436, BI912857, CD366767

UniProtKB/TrEMBL

B4DLZ1

Conserved Domains (5) summary

TIGR02473
Location:83 → 213

flagell_FliJ; flagellar export protein FliJ

smart00109
Location:463 → 508

C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)

cd04378
Location:520 → 723

RhoGAP_GMIP_PARG1; RhoGAP_GMIP_PARG1: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of GMIP (Gem interacting protein) and PARG1 (PTPL1-associated RhoGAP1). GMIP plays important roles in neurite growth and axonal guidance, and interacts with Gem, ...

pfam13863
Location:172 → 225

DUF4200; Domain of unknown function (DUF4200)

cl12013
Location:93 → 164

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
NM_001288999.2 → NP_001275928.1 GEM-interacting protein isoform 3

See identical proteins and their annotated locations for NP_001275928.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.

Source sequence(s)

AK297220, BC144142, BI912857, CD366767

Consensus CDS

CCDS74318.1

UniProtKB/TrEMBL

B4DLZ1

Related

ENSP00000467054.1, ENST00000587238.5

Conserved Domains (5) summary

TIGR02473
Location:83 → 213

flagell_FliJ; flagellar export protein FliJ

smart00109
Location:466 → 511

C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)

cd04378
Location:523 → 726

RhoGAP_GMIP_PARG1; RhoGAP_GMIP_PARG1: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of GMIP (Gem interacting protein) and PARG1 (PTPL1-associated RhoGAP1). GMIP plays important roles in neurite growth and axonal guidance, and interacts with Gem, ...

pfam13863
Location:172 → 225

DUF4200; Domain of unknown function (DUF4200)

cl12013
Location:93 → 164

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
NM_016573.4 → NP_057657.2 GEM-interacting protein isoform 1

See identical proteins and their annotated locations for NP_057657.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AK297220, BC126436, BI912857, CD366767

Consensus CDS

CCDS12408.1

UniProtKB/Swiss-Prot

A0AVN9, B7ZLZ0, Q9P107

UniProtKB/TrEMBL

A0A024R7N1, B4DLZ1

Related

ENSP00000203556.3, ENST00000203556.9

Conserved Domains (4) summary

smart00109
Location:492 → 537

C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)

cd04378
Location:549 → 752

RhoGAP_GMIP_PARG1; RhoGAP_GMIP_PARG1: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of GMIP (Gem interacting protein) and PARG1 (PTPL1-associated RhoGAP1). GMIP plays important roles in neurite growth and axonal guidance, and interacts with Gem, ...

cl12013
Location:93 → 164

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

cl28111
Location:760 → 874

Marek_A; Marek's disease glycoprotein A

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

19629476..19643657 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005259927.3 → XP_005259984.1 GEM-interacting protein isoform X1

UniProtKB/TrEMBL

B4DLZ1

Conserved Domains (5) summary

TIGR02473
Location:83 → 213

flagell_FliJ; flagellar export protein FliJ

smart00109
Location:489 → 534

C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)

cd04378
Location:546 → 749

RhoGAP_GMIP_PARG1; RhoGAP_GMIP_PARG1: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of GMIP (Gem interacting protein) and PARG1 (PTPL1-associated RhoGAP1). GMIP plays important roles in neurite growth and axonal guidance, and interacts with Gem, ...

pfam13863
Location:172 → 225

DUF4200; Domain of unknown function (DUF4200)

cl12013
Location:93 → 164

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
XM_017026862.2 → XP_016882351.1 GEM-interacting protein isoform X2

UniProtKB/TrEMBL

B4DLZ1
XM_047438906.1 → XP_047294862.1 GEM-interacting protein isoform X5
XM_047438905.1 → XP_047294861.1 GEM-interacting protein isoform X4
XM_047438904.1 → XP_047294860.1 GEM-interacting protein isoform X3
XM_047438907.1 → XP_047294863.1 GEM-interacting protein isoform X6