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GMIP GEM interacting protein [ Homo sapiens (human) ]

Gene ID: 51291, updated on 22-Aug-2020

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
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

Genomic context

See GMIP in Genome Data Viewer
Location:
19p13.11
Exon count:
22
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (19629476..19643657, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (19740285..19754457, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene PBX homeobox 4 Neighboring gene PHD finger protein 5C pseudogene Neighboring gene lysophosphatidic acid receptor 2 Neighboring gene ATPase 13A1 Neighboring gene conserved acetylation island sequence C14 enhancer Neighboring gene zinc finger protein 101

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 

NCBI Reference Sequences (RefSeq)

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_001288998.2NP_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/Swiss-Prot
    Q9P107
    UniProtKB/TrEMBL
    B4DLZ1
    Conserved Domains (5) summary
    TIGR02473
    Location:83213
    flagell_FliJ; flagellar export protein FliJ
    smart00109
    Location:463508
    C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
    cd04378
    Location:520723
    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:172225
    DUF4200; Domain of unknown function (DUF4200)
    cl12013
    Location:93164
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  2. NM_001288999.2NP_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/Swiss-Prot
    Q9P107
    UniProtKB/TrEMBL
    B4DLZ1
    Related
    ENSP00000467054.1, ENST00000587238.5
    Conserved Domains (5) summary
    TIGR02473
    Location:83213
    flagell_FliJ; flagellar export protein FliJ
    smart00109
    Location:466511
    C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
    cd04378
    Location:523726
    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:172225
    DUF4200; Domain of unknown function (DUF4200)
    cl12013
    Location:93164
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  3. NM_016573.4NP_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
    Q9P107
    UniProtKB/TrEMBL
    A0A024R7N1, B4DLZ1
    Related
    ENSP00000203556.3, ENST00000203556.9
    Conserved Domains (4) summary
    smart00109
    Location:492537
    C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
    cd04378
    Location:549752
    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:93164
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    cl28111
    Location:760874
    Marek_A; Marek's disease glycoprotein A

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    19629476..19643657 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005259927.2XP_005259984.1  GEM-interacting protein isoform X1

    Conserved Domains (5) summary
    TIGR02473
    Location:83213
    flagell_FliJ; flagellar export protein FliJ
    smart00109
    Location:489534
    C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
    cd04378
    Location:546749
    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:172225
    DUF4200; Domain of unknown function (DUF4200)
    cl12013
    Location:93164
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  2. XM_017026861.1XP_016882350.1  GEM-interacting protein isoform X2

  3. XM_011528048.2XP_011526350.1  GEM-interacting protein isoform X4

    Conserved Domains (4) summary
    smart00109
    Location:371416
    C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
    pfam03938
    Location:45111
    OmpH; Outer membrane protein (OmpH-like)
    pfam13863
    Location:51104
    DUF4200; Domain of unknown function (DUF4200)
    cl02570
    Location:428631
    RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...
  4. XM_017026862.1XP_016882351.1  GEM-interacting protein isoform X3

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