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    RAP1GDS1 Rap1 GTPase-GDP dissociation stimulator 1 [ Homo sapiens (human) ]

    Gene ID: 5910, updated on 5-Nov-2017
    Official Symbol
    RAP1GDS1provided by HGNC
    Official Full Name
    Rap1 GTPase-GDP dissociation stimulator 1provided by HGNC
    Primary source
    HGNC:HGNC:9859
    See related
    Ensembl:ENSG00000138698 MIM:179502; Vega:OTTHUMG00000160987
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GDS1; SmgGDS
    Summary
    The smg GDP dissociation stimulator (smgGDS) protein is a stimulatory GDP/GTP exchange protein with GTPase activity (Riess et al., 1993 [PubMed 8262526]).[supplied by OMIM, Feb 2010]
    Expression
    Ubiquitous expression in brain (RPKM 27.0), testis (RPKM 10.3) and 25 other tissues See more
    Orthologs
    Location:
    4q23
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (98261376..98443861)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (99182527..99365012)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene sperm tail PG-rich repeat containing 2 Neighboring gene deoxyuridine triphosphatase pseudogene 8 Neighboring gene uncharacterized LOC105377340 Neighboring gene ribosomal protein L21 pseudogene 48 Neighboring gene tetraspanin 5 Neighboring gene uncharacterized LOC105377342

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of RAP1GDS1 PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat downregulates the expression of RAP1, GTP-GDP dissociation stimulator 1 (RAP1GDS1; GDS1) in human primary T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC118859, MGC118861

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTPase activator activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    myosin filament assembly IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of endoplasmic reticulum calcium ion concentration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    positive regulation of mitochondrial calcium ion concentration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    small GTPase mediated signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    vascular smooth muscle contraction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    rap1 GTPase-GDP dissociation stimulator 1
    Names
    RAP1, GTP-GDP dissociation stimulator 1
    SMG GDS protein
    SMG P21 stimulatory GDP/GTP exchange protein
    exchange factor smgGDS

    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_001100426.1NP_001093896.1  rap1 GTPase-GDP dissociation stimulator 1 isoform 1

      See identical proteins and their annotated locations for NP_001093896.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC058823, AF215923, AI800264, BC098269, DC367998
      Consensus CDS
      CCDS47105.1
      UniProtKB/Swiss-Prot
      P52306
      Related
      ENSP00000340454.5, OTTHUMP00000219494, ENST00000339360.9, OTTHUMT00000363278
      Conserved Domains (2) summary
      cd00020
      Location:318431
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      sd00043
      Location:92117
      ARM; armadillo repeat [structural motif]
    2. NM_001100427.1NP_001093897.1  rap1 GTPase-GDP dissociation stimulator 1 isoform 3

      See identical proteins and their annotated locations for NP_001093897.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform 3), compared to isoform 1.
      Source sequence(s)
      AC058823, AI800264, AK055032, BC098269, DC367998
      Consensus CDS
      CCDS43253.1
      UniProtKB/Swiss-Prot
      P52306
      UniProtKB/TrEMBL
      B3KNU0
      Related
      ENSP00000386153.3, OTTHUMP00000219490, ENST00000408927.7, OTTHUMT00000363273
      Conserved Domains (2) summary
      cd00020
      Location:317430
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      sd00043
      Location:91116
      ARM; armadillo repeat [structural motif]
    3. NM_001100428.1NP_001093898.1  rap1 GTPase-GDP dissociation stimulator 1 isoform 4

      See identical proteins and their annotated locations for NP_001093898.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon in the mid-coding region, compared to variant 1, resulting in a shorter protein (isoform 4), compared to isoform 1.
      Source sequence(s)
      AC058823, AI800264, BC001851, BC099845, DC367998
      Consensus CDS
      CCDS47107.1
      UniProtKB/Swiss-Prot
      P52306
      Related
      ENSP00000369503.4, OTTHUMP00000219491, ENST00000380158.8, OTTHUMT00000363274
      Conserved Domains (3) summary
      cd00020
      Location:44163
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      sd00043
      Location:4576
      ARM; armadillo repeat [structural motif]
      cl22454
      Location:391459
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
    4. NM_001100429.1NP_001093899.1  rap1 GTPase-GDP dissociation stimulator 1 isoform 5

      See identical proteins and their annotated locations for NP_001093899.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate in-frame splice site in the 5' coding region and lacks an alternate in-frame exon in the mid-coding region, compared to variant 1, resulting in a shorter protein (isoform 5), compared to isoform 1.
      Source sequence(s)
      AC058823, AI800264, BC098334, DC367998
      Consensus CDS
      CCDS43254.1
      UniProtKB/Swiss-Prot
      P52306
      Related
      ENSP00000386223.3, OTTHUMP00000219493, ENST00000408900.7, OTTHUMT00000363277
      Conserved Domains (3) summary
      cd00020
      Location:43162
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      sd00043
      Location:4475
      ARM; armadillo repeat [structural motif]
      cl22454
      Location:390458
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
    5. NM_001100430.1NP_001093900.1  rap1 GTPase-GDP dissociation stimulator 1 isoform 6

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks two alternate in-frame exons in the mid-coding region, compared to variant 1, resulting in a shorter protein (isoform 6), compared to isoform 1.
      Source sequence(s)
      AC058823, AI800264, AY376900, BC098334, BC099845, DC367998
      Consensus CDS
      CCDS47108.1
      UniProtKB/Swiss-Prot
      P52306
      UniProtKB/TrEMBL
      Q6U7G8
      Related
      ENSP00000264572.7, OTTHUMP00000219492, ENST00000264572.11, OTTHUMT00000363276
      Conserved Domains (2) summary
      cd00020
      Location:226339
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      sd00043
      Location:4576
      ARM; armadillo repeat [structural motif]
    6. NM_021159.4NP_066982.3  rap1 GTPase-GDP dissociation stimulator 1 isoform 2

      See identical proteins and their annotated locations for NP_066982.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AC058823, AI800264, BC001851, BC098269, DC367998
      Consensus CDS
      CCDS47106.1
      UniProtKB/Swiss-Prot
      P52306
      Related
      ENSP00000407157.2, OTTHUMP00000219495, ENST00000453712.6, OTTHUMT00000363279
      Conserved Domains (2) summary
      cd00020
      Location:318431
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      sd00043
      Location:92117
      ARM; armadillo repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

      Range
      98261376..98443861
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      99159390..99341882
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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