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    GMIP GEM interacting protein [ Homo sapiens (human) ]

    Gene ID: 51291, updated on 28-Oct-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
    mouse all
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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 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)

    Genotypes

    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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    NEW Try the new Transcript table

    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

    Gene LinkOut

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