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GMIP GEM interacting protein [ Homo sapiens (human) ]

Gene ID: 51291, updated on 27-Nov-2024

Summary

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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
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Genomic context

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See GMIP in Genome Data Viewer
Location:
19p13.11
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (19629476..19643657, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (19766986..19781167, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (19740285..19754466, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene PBX homeobox 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14361 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14362 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19703425-19704049 Neighboring gene PHF5A pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14363 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14365 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10449 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:19722648-19723212 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10450 Neighboring gene Sharpr-MPRA regulatory region 12805 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10451 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19739417-19740339 Neighboring gene lysophosphatidic acid receptor 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19753343-19754298 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10453 Neighboring gene ATPase 13A1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19772231-19772878 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14368 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:19773833-19774815 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10455 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19779337-19779903 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19779904-19780469 Neighboring gene zinc finger protein 101

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Gene profiling involved in immature CD4+ T lymphocyte responsible for systemic lupus erythematosus. Deng YJ, et al. Mol Immunol, 2006 Mar. PMID 16143398
  2. The Gem interacting protein (GMIP) gene is associated with major depressive disorder. Tadokoro K, et al. Neurogenetics, 2005 Sep. PMID 16086184
  3. Characterization of human ARHGAP10 gene in silico. Katoh M, et al. Int J Oncol, 2004 Oct. PMID 15375573
  4. Vesicular trafficking through cortical actin during exocytosis is regulated by the Rab27a effector JFC1/Slp1 and the RhoA-GTPase-activating protein Gem-interacting protein. Johnson JL, et al. Mol Biol Cell, 2012 May. PMID 22438581, Free PMC Article
  5. Gem GTPase acts upstream Gmip/RhoA to regulate cortical actin remodeling and spindle positioning during early mitosis. Andrieu G, et al. Carcinogenesis, 2014 Nov. PMID 25173885

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: Poor replication of candidate genes for major depressive disorder using genome-wide association data.
  5. 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.
  6. 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

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

Homology

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 intracellular signal transduction 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 IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of small GTPase mediated signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  
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)

  1. 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

  2. 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

  3. 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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. 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

  2. XM_017026862.2 → XP_016882351.1  GEM-interacting protein isoform X2

    UniProtKB/TrEMBL
    B4DLZ1

  3. XM_047438906.1 → XP_047294862.1  GEM-interacting protein isoform X5

  4. XM_047438905.1 → XP_047294861.1  GEM-interacting protein isoform X4

  5. XM_047438904.1 → XP_047294860.1  GEM-interacting protein isoform X3

  6. XM_047438907.1 → XP_047294863.1  GEM-interacting protein isoform X6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    19766986..19781167 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054321163.1 → XP_054177138.1  GEM-interacting protein isoform X1

  2. XM_054321164.1 → XP_054177139.1  GEM-interacting protein isoform X2

  3. XM_054321167.1 → XP_054177142.1  GEM-interacting protein isoform X5

  4. XM_054321166.1 → XP_054177141.1  GEM-interacting protein isoform X4

  5. XM_054321165.1 → XP_054177140.1  GEM-interacting protein isoform X3

  6. XM_054321168.1 → XP_054177143.1  GEM-interacting protein isoform X6

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9P107.2 GenPept UniProtKB/Swiss-Prot:Q9P107

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