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    GMIP GEM interacting protein [ Homo sapiens (human) ]

    Gene ID: 51291, updated on 17-Jun-2024

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See GMIP in Genome Data Viewer
    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_000019.10Genomic 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

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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
     

    NCBI Reference Sequences (RefSeq)

    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_001288998.2NP_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/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/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
      A0AVN9, B7ZLZ0, 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: 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

    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_005259927.3XP_005259984.1  GEM-interacting protein isoform X1

      UniProtKB/TrEMBL
      B4DLZ1
      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_017026862.2XP_016882351.1  GEM-interacting protein isoform X2

      UniProtKB/TrEMBL
      B4DLZ1
    3. XM_047438906.1XP_047294862.1  GEM-interacting protein isoform X5

      UniProtKB/TrEMBL
      B4DLZ1
    4. XM_047438905.1XP_047294861.1  GEM-interacting protein isoform X4

      UniProtKB/TrEMBL
      B4DLZ1
    5. XM_047438904.1XP_047294860.1  GEM-interacting protein isoform X3

      UniProtKB/TrEMBL
      B4DLZ1
    6. XM_047438907.1XP_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_054321163.1XP_054177138.1  GEM-interacting protein isoform X1

      UniProtKB/TrEMBL
      B4DLZ1
    2. XM_054321164.1XP_054177139.1  GEM-interacting protein isoform X2

      UniProtKB/TrEMBL
      B4DLZ1
    3. XM_054321167.1XP_054177142.1  GEM-interacting protein isoform X5

      UniProtKB/TrEMBL
      B4DLZ1
    4. XM_054321166.1XP_054177141.1  GEM-interacting protein isoform X4

      UniProtKB/TrEMBL
      B4DLZ1
    5. XM_054321165.1XP_054177140.1  GEM-interacting protein isoform X3

      UniProtKB/TrEMBL
      B4DLZ1
    6. XM_054321168.1XP_054177143.1  GEM-interacting protein isoform X6