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

Gene ID: 5910, updated on 14-Oct-2018

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; 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

Genomic context

See RAP1GDS1 in Genome Data Viewer
Location:
4q23
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 uncharacterized LOC105377340 Neighboring gene deoxyuridine triphosphatase pseudogene 8 Neighboring gene ribosomal protein L21 pseudogene 48 Neighboring gene tetraspanin 5 Neighboring gene uncharacterized LOC112267901 Neighboring gene uncharacterized LOC105377342

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
positive regulation of mitochondrial calcium ion concentration IMP
Inferred from Mutant Phenotype
more info
PubMed 
vascular smooth muscle contraction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
mitochondrion 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)

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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

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

    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_024454166.1XP_024309934.1  rap1 GTPase-GDP dissociation stimulator 1 isoform X3

    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
  3. XM_024454173.1XP_024309941.1  rap1 GTPase-GDP dissociation stimulator 1 isoform X6

    Conserved Domains (4) summary
    smart00185
    Location:217260
    ARM; Armadillo/beta-catenin-like repeats
    pfam00514
    Location:637
    Arm; Armadillo/beta-catenin-like repeat
    sd00043
    Location:638
    ARM; armadillo repeat [structural motif]
    cl26969
    Location:97262
    Vitellogenin_N; Lipoprotein amino terminal region
  4. XM_024454172.1XP_024309940.1  rap1 GTPase-GDP dissociation stimulator 1 isoform X6

    Conserved Domains (4) summary
    smart00185
    Location:217260
    ARM; Armadillo/beta-catenin-like repeats
    pfam00514
    Location:637
    Arm; Armadillo/beta-catenin-like repeat
    sd00043
    Location:638
    ARM; armadillo repeat [structural motif]
    cl26969
    Location:97262
    Vitellogenin_N; Lipoprotein amino terminal region
  5. XM_024454168.1XP_024309936.1  rap1 GTPase-GDP dissociation stimulator 1 isoform X4

    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_024454171.1XP_024309939.1  rap1 GTPase-GDP dissociation stimulator 1 isoform X5

    Conserved Domains (3) summary
    pfam00514
    Location:637
    Arm; Armadillo/beta-catenin-like repeat
    sd00043
    Location:638
    ARM; armadillo repeat [structural motif]
    cl26969
    Location:97262
    Vitellogenin_N; Lipoprotein amino terminal region
  7. XM_024454169.1XP_024309937.1  rap1 GTPase-GDP dissociation stimulator 1 isoform X5

    Conserved Domains (3) summary
    pfam00514
    Location:637
    Arm; Armadillo/beta-catenin-like repeat
    sd00043
    Location:638
    ARM; armadillo repeat [structural motif]
    cl26969
    Location:97262
    Vitellogenin_N; Lipoprotein amino terminal region
  8. XM_024454167.1XP_024309935.1  rap1 GTPase-GDP dissociation stimulator 1 isoform X4

    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
  9. XM_024454170.1XP_024309938.1  rap1 GTPase-GDP dissociation stimulator 1 isoform X5

    Conserved Domains (3) summary
    pfam00514
    Location:637
    Arm; Armadillo/beta-catenin-like repeat
    sd00043
    Location:638
    ARM; armadillo repeat [structural motif]
    cl26969
    Location:97262
    Vitellogenin_N; Lipoprotein amino terminal region
  10. XM_024454176.1XP_024309944.1  rap1 GTPase-GDP dissociation stimulator 1 isoform X7

    Conserved Domains (2) summary
    smart00185
    Location:168211
    ARM; Armadillo/beta-catenin-like repeats
    cl26969
    Location:48213
    Vitellogenin_N; Lipoprotein amino terminal region
  11. XM_024454164.1XP_024309932.1  rap1 GTPase-GDP dissociation stimulator 1 isoform X1

    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
  12. XM_024454175.1XP_024309943.1  rap1 GTPase-GDP dissociation stimulator 1 isoform X7

    Conserved Domains (2) summary
    smart00185
    Location:168211
    ARM; Armadillo/beta-catenin-like repeats
    cl26969
    Location:48213
    Vitellogenin_N; Lipoprotein amino terminal region
  13. XM_024454174.1XP_024309942.1  rap1 GTPase-GDP dissociation stimulator 1 isoform X7

    Conserved Domains (2) summary
    smart00185
    Location:168211
    ARM; Armadillo/beta-catenin-like repeats
    cl26969
    Location:48213
    Vitellogenin_N; Lipoprotein amino terminal region

RNA

  1. XR_002959743.1 RNA Sequence

  2. XR_002959744.1 RNA Sequence

  3. XR_002959742.1 RNA Sequence

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