U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 5910, updated on 3-Dec-2024

    Summary

    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; AllianceGenome:HGNC:9859
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RAP1GDS1 in Genome Data Viewer
    Location:
    4q23
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (98261384..98443858)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (101576339..101758825)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (99182535..99365009)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene sperm tail PG-rich repeat containing 2 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:99031922-99032747 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21732 Neighboring gene deoxyuridine triphosphatase pseudogene 8 Neighboring gene uncharacterized LOC105377340 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:99125201-99125922 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:99181827-99182389 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15576 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15577 Neighboring gene uncharacterized LOC124900919 Neighboring gene ribosomal protein L21 pseudogene 48 Neighboring gene Sharpr-MPRA regulatory region 12770 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21734 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:99457519-99458032 Neighboring gene tetraspanin 5 Neighboring gene Sharpr-MPRA regulatory region 11258 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:99518736-99519334 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21735 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:99574420-99575619 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:99579327-99579486 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15578 Neighboring gene uncharacterized LOC112267901 Neighboring gene TSPAN5 divergent transcript

    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
    Alfadhel syndrome
    MedGen: C5882735 OMIM: 620655 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Genome-wide association study of biochemical traits in Korcula Island, Croatia.
    EBI GWAS Catalog

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC118859, MGC118861

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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

    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_001100426.2NP_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/TrEMBL
      B3KNU0
      Related
      ENSP00000340454.5, ENST00000339360.9
      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_001100427.2NP_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
      E9PH06, G5E9P9, P52306, Q499L7, Q4KMV2, Q4QQI8, Q9BUW9, Q9BUX6, Q9NYM2, Q9NZA8
      UniProtKB/TrEMBL
      B3KNU0
      Related
      ENSP00000386153.4, ENST00000408927.8
      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_001100428.2NP_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/TrEMBL
      B7Z2V8
      Related
      ENSP00000369503.4, ENST00000380158.8
      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_001100429.2NP_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/TrEMBL
      B7Z2V8
      Related
      ENSP00000386223.3, ENST00000408900.7
      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_001100430.2NP_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/TrEMBL
      Q6U7G8
      Related
      ENSP00000264572.7, ENST00000264572.11
      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_021159.5NP_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/TrEMBL
      B3KNU0
      Related
      ENSP00000407157.2, ENST00000453712.6
      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: 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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      98261384..98443858
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024454165.2XP_024309933.1  rap1 GTPase-GDP dissociation stimulator 1 isoform X2

      UniProtKB/TrEMBL
      B7Z2V8
      Conserved Domains (5) summary
      smart00185
      Location:298341
      ARM; Armadillo/beta-catenin-like repeats
      pfam00514
      Location:87118
      Arm; Armadillo/beta-catenin-like repeat
      sd00043
      Location:4576
      ARM; armadillo repeat [structural motif]
      cl26969
      Location:178343
      Vitellogenin_N; Lipoprotein amino terminal region
      cl27106
      Location:31216
      PLN03200; cellulose synthase-interactive protein; Provisional
    2. XM_024454164.2XP_024309932.1  rap1 GTPase-GDP dissociation stimulator 1 isoform X1

      UniProtKB/TrEMBL
      B3KNU0
      Conserved Domains (3) summary
      sd00043
      Location:91116
      ARM; armadillo repeat [structural motif]
      cl26969
      Location:226391
      Vitellogenin_N; Lipoprotein amino terminal region
      cl27106
      Location:18264
      PLN03200; cellulose synthase-interactive protein; Provisional
    3. XM_024454166.2XP_024309934.1  rap1 GTPase-GDP dissociation stimulator 1 isoform X3

      UniProtKB/TrEMBL
      B7Z2V8
      Conserved Domains (5) summary
      smart00185
      Location:297340
      ARM; Armadillo/beta-catenin-like repeats
      pfam00514
      Location:86117
      Arm; Armadillo/beta-catenin-like repeat
      sd00043
      Location:4475
      ARM; armadillo repeat [structural motif]
      cl26969
      Location:177342
      Vitellogenin_N; Lipoprotein amino terminal region
      cl27106
      Location:30215
      PLN03200; cellulose synthase-interactive protein; Provisional
    4. XM_047416051.1XP_047272007.1  rap1 GTPase-GDP dissociation stimulator 1 isoform X4

      UniProtKB/TrEMBL
      B7Z4M5
    5. XM_024454168.2XP_024309936.1  rap1 GTPase-GDP dissociation stimulator 1 isoform X4

      UniProtKB/TrEMBL
      B7Z4M5
      Conserved Domains (4) summary
      smart00185
      Location:266309
      ARM; Armadillo/beta-catenin-like repeats
      pfam00514
      Location:637
      Arm; Armadillo/beta-catenin-like repeat
      sd00043
      Location:1136
      ARM; armadillo repeat [structural motif]
      cl27106
      Location:6184
      PLN03200; cellulose synthase-interactive protein; Provisional
    6. XM_047416052.1XP_047272008.1  rap1 GTPase-GDP dissociation stimulator 1 isoform X5

      UniProtKB/TrEMBL
      B7Z4M5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      101576339..101758825
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350661.1XP_054206636.1  rap1 GTPase-GDP dissociation stimulator 1 isoform X2

      UniProtKB/TrEMBL
      B7Z2V8
    2. XM_054350660.1XP_054206635.1  rap1 GTPase-GDP dissociation stimulator 1 isoform X1

      UniProtKB/TrEMBL
      B3KNU0
    3. XM_054350662.1XP_054206637.1  rap1 GTPase-GDP dissociation stimulator 1 isoform X3

      UniProtKB/TrEMBL
      B7Z2V8
    4. XM_054350663.1XP_054206638.1  rap1 GTPase-GDP dissociation stimulator 1 isoform X4

      UniProtKB/TrEMBL
      B7Z4M5
    5. XM_054350664.1XP_054206639.1  rap1 GTPase-GDP dissociation stimulator 1 isoform X4

      UniProtKB/TrEMBL
      B7Z4M5
    6. XM_054350665.1XP_054206640.1  rap1 GTPase-GDP dissociation stimulator 1 isoform X5

      UniProtKB/TrEMBL
      B7Z4M5