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    GAPVD1 GTPase activating protein and VPS9 domains 1 [ Homo sapiens (human) ]

    Gene ID: 26130, updated on 3-May-2020

    Summary

    Official Symbol
    GAPVD1provided by HGNC
    Official Full Name
    GTPase activating protein and VPS9 domains 1provided by HGNC
    Primary source
    HGNC:HGNC:23375
    See related
    Ensembl:ENSG00000165219 MIM:611714
    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
    RAP6; GAPEX5; GAPex-5
    Expression
    Ubiquitous expression in testis (RPKM 13.1), thyroid (RPKM 9.8) and 25 other tissues See more
    Orthologs

    Genomic context

    See GAPVD1 in Genome Data Viewer
    Location:
    9q33.3
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    109.20200228 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (125261794..125367207)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (128024073..128127290)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 7891 Neighboring gene uncharacterized LOC107987127 Neighboring gene heat shock protein family A (Hsp70) member 5 Neighboring gene ribosomal protein S10 pseudogene 17 Neighboring gene RNA, U6 small nuclear 1020, pseudogene Neighboring gene uncharacterized LOC101929014 Neighboring gene uncharacterized LOC112268055 Neighboring gene RNA, U5B small nuclear 5, pseudogene

    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

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of GAPVD1 PubMed
    Knockdown of GTPase activating protein and VPS9 domains 1 (GAPVD1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl 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

    Homology

    Clone Names

    • KIAA1521, MGC138847, MGC138848, DKFZp434C212

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTPase activating protein binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
     
    cadherin binding HDA PubMed 
    guanyl-nucleotide exchange factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    membrane organization TAS
    Traceable Author Statement
    more info
     
    positive regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of protein transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    endosome IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    GTPase-activating protein and VPS9 domain-containing protein 1
    Names
    Rab5 exchange factor
    Rab5-activating protein 6

    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_001282679.2NP_001269608.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001269608.1

      Status: VALIDATED

      Source sequence(s)
      AL354710, AL627223
      Consensus CDS
      CCDS65132.1
      UniProtKB/Swiss-Prot
      Q14C86
      Related
      ENSP00000419063.1, ENST00000495955.5
      Conserved Domains (2) summary
      cd05129
      Location:84449
      RasGAP_RAP6; Ras-GTPase Activating Domain of Rab5-activating protein 6
      pfam02204
      Location:13741475
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
    2. NM_001282680.3NP_001269609.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001269609.1

      Status: VALIDATED

      Source sequence(s)
      AL354710, AL627223
      Consensus CDS
      CCDS65131.1
      UniProtKB/Swiss-Prot
      Q14C86
      UniProtKB/TrEMBL
      A0A024R862
      Related
      ENSP00000297933.6, ENST00000297933.11
      Conserved Domains (2) summary
      cd05129
      Location:84449
      RasGAP_RAP6; Ras-GTPase Activating Domain of Rab5-activating protein 6
      pfam02204
      Location:13561457
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
    3. NM_001282681.3NP_001269610.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform 3

      See identical proteins and their annotated locations for NP_001269610.1

      Status: VALIDATED

      Source sequence(s)
      AL354710, AL627223
      Consensus CDS
      CCDS65130.1
      UniProtKB/Swiss-Prot
      Q14C86
      Conserved Domains (2) summary
      cd05129
      Location:84449
      RasGAP_RAP6; Ras-GTPase Activating Domain of Rab5-activating protein 6
      pfam02204
      Location:13351436
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
    4. NM_001330777.3NP_001317706.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL354710, AL627223
      Consensus CDS
      CCDS83413.1
      UniProtKB/TrEMBL
      F8W9S7
      Related
      ENSP00000377645.2, ENST00000394083.6
      Conserved Domains (2) summary
      cd05129
      Location:84449
      RasGAP_RAP6; Ras-GTPase Activating Domain of Rab5-activating protein 6
      pfam02204
      Location:13081409
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
    5. NM_001330778.3NP_001317707.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL354710, AL627223
      Consensus CDS
      CCDS83414.1
      UniProtKB/Swiss-Prot
      Q14C86
      UniProtKB/TrEMBL
      A0A024R875
      Related
      ENSP00000419767.1, ENST00000470056.5
      Conserved Domains (2) summary
      cd05129
      Location:84449
      RasGAP_RAP6; Ras-GTPase Activating Domain of Rab5-activating protein 6
      pfam02204
      Location:13291430
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
    6. NM_001354293.2NP_001341222.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AA683411, AL354710, BC110990
      Consensus CDS
      CCDS87689.1
      Related
      ENSP00000377646.1, ENST00000394084.5
      Conserved Domains (1) summary
      cd05129
      Location:84449
      RasGAP_RAP6; Ras-GTPase Activating Domain of Rab5-activating protein 6
    7. NM_001354294.2NP_001341223.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL354710, AL627223
      Consensus CDS
      CCDS65131.1
      Conserved Domains (2) summary
      cd05129
      Location:84449
      RasGAP_RAP6; Ras-GTPase Activating Domain of Rab5-activating protein 6
      pfam02204
      Location:13561457
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
    8. NM_001354295.2NP_001341224.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL354710, AL627223
      Consensus CDS
      CCDS65131.1
      Conserved Domains (2) summary
      cd05129
      Location:84449
      RasGAP_RAP6; Ras-GTPase Activating Domain of Rab5-activating protein 6
      pfam02204
      Location:13561457
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
    9. NM_001354296.2NP_001341225.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL354710, AL627223
      Consensus CDS
      CCDS65131.1
      Conserved Domains (2) summary
      cd05129
      Location:84449
      RasGAP_RAP6; Ras-GTPase Activating Domain of Rab5-activating protein 6
      pfam02204
      Location:13561457
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
    10. NM_001354297.2NP_001341226.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL354710, AL627223
      Consensus CDS
      CCDS65130.1
      Conserved Domains (2) summary
      cd05129
      Location:84449
      RasGAP_RAP6; Ras-GTPase Activating Domain of Rab5-activating protein 6
      pfam02204
      Location:13351436
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
    11. NM_001354298.2NP_001341227.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL354710, AL627223
      Conserved Domains (2) summary
      cd05129
      Location:84449
      RasGAP_RAP6; Ras-GTPase Activating Domain of Rab5-activating protein 6
      pfam02204
      Location:13561457
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
    12. NM_001354299.2NP_001341228.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL354710, AL627223
      Consensus CDS
      CCDS65131.1
      Conserved Domains (2) summary
      cd05129
      Location:84449
      RasGAP_RAP6; Ras-GTPase Activating Domain of Rab5-activating protein 6
      pfam02204
      Location:13561457
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
    13. NM_001354300.2NP_001341229.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL354710, AL627223
      Consensus CDS
      CCDS65130.1
      Conserved Domains (2) summary
      cd05129
      Location:84449
      RasGAP_RAP6; Ras-GTPase Activating Domain of Rab5-activating protein 6
      pfam02204
      Location:13351436
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
    14. NM_001354301.2NP_001341230.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL354710, AL627223
      Consensus CDS
      CCDS65131.1
      Conserved Domains (2) summary
      cd05129
      Location:84449
      RasGAP_RAP6; Ras-GTPase Activating Domain of Rab5-activating protein 6
      pfam02204
      Location:13561457
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
    15. NM_015635.4NP_056450.2  GTPase-activating protein and VPS9 domain-containing protein 1 isoform 4

      See identical proteins and their annotated locations for NP_056450.2

      Status: VALIDATED

      Source sequence(s)
      AL354710, AL627223
      Consensus CDS
      CCDS35138.1
      UniProtKB/Swiss-Prot
      Q14C86
      UniProtKB/TrEMBL
      A0A024R8A2, B4DGD8
      Related
      ENSP00000377665.2, ENST00000394105.6
      Conserved Domains (2) summary
      cd05129
      Location:84449
      RasGAP_RAP6; Ras-GTPase Activating Domain of Rab5-activating protein 6
      pfam02204
      Location:13831484
      VPS9; Vacuolar sorting protein 9 (VPS9) domain

    RNA

    1. NR_148732.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL354710, AL627223
    2. NR_148733.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL354710, AL627223

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

      Range
      125261794..125367207
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011518507.2XP_011516809.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X3

      Conserved Domains (2) summary
      cd05129
      Location:84449
      RasGAP_RAP6; Ras-GTPase Activating Domain of Rab5-activating protein 6
      pfam02204
      Location:13561457
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
    2. XM_011518500.2XP_011516802.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011516802.1

      UniProtKB/TrEMBL
      A0A024R8A2
      Conserved Domains (2) summary
      cd05129
      Location:84449
      RasGAP_RAP6; Ras-GTPase Activating Domain of Rab5-activating protein 6
      pfam02204
      Location:13831484
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
    3. XM_011518499.2XP_011516801.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011516801.1

      UniProtKB/TrEMBL
      A0A024R8A2
      Conserved Domains (2) summary
      cd05129
      Location:84449
      RasGAP_RAP6; Ras-GTPase Activating Domain of Rab5-activating protein 6
      pfam02204
      Location:13831484
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
    4. XM_011518506.2XP_011516808.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X2

      Conserved Domains (2) summary
      cd05129
      Location:84449
      RasGAP_RAP6; Ras-GTPase Activating Domain of Rab5-activating protein 6
      pfam02204
      Location:13621463
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
    5. XM_005251904.3XP_005251961.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X5

      See identical proteins and their annotated locations for XP_005251961.1

      UniProtKB/Swiss-Prot
      Q14C86
      UniProtKB/TrEMBL
      A0A024R875
      Conserved Domains (2) summary
      cd05129
      Location:84449
      RasGAP_RAP6; Ras-GTPase Activating Domain of Rab5-activating protein 6
      pfam02204
      Location:13291430
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
    6. XM_017014609.1XP_016870098.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X5

      UniProtKB/Swiss-Prot
      Q14C86
      UniProtKB/TrEMBL
      A0A024R875
      Conserved Domains (2) summary
      cd05129
      Location:84449
      RasGAP_RAP6; Ras-GTPase Activating Domain of Rab5-activating protein 6
      pfam02204
      Location:13291430
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
    7. XM_017014606.1XP_016870095.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X4

      UniProtKB/Swiss-Prot
      Q14C86
      Related
      ENSP00000309582.9, ENST00000312123.13
      Conserved Domains (2) summary
      cd05129
      Location:84449
      RasGAP_RAP6; Ras-GTPase Activating Domain of Rab5-activating protein 6
      pfam02204
      Location:13351436
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
    8. XM_024447502.1XP_024303270.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X7

      Conserved Domains (1) summary
      pfam02204
      Location:553654
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
    9. XM_011518502.2XP_011516804.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011516804.1

      UniProtKB/TrEMBL
      A0A024R8A2
      Conserved Domains (2) summary
      cd05129
      Location:84449
      RasGAP_RAP6; Ras-GTPase Activating Domain of Rab5-activating protein 6
      pfam02204
      Location:13831484
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
    10. XM_017014600.1XP_016870089.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A024R8A2
      Conserved Domains (2) summary
      cd05129
      Location:84449
      RasGAP_RAP6; Ras-GTPase Activating Domain of Rab5-activating protein 6
      pfam02204
      Location:13831484
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
    11. XM_024447501.1XP_024303269.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X6

      Conserved Domains (1) summary
      pfam02204
      Location:580681
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
    12. XM_024447503.1XP_024303271.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X7

      Conserved Domains (1) summary
      pfam02204
      Location:553654
      VPS9; Vacuolar sorting protein 9 (VPS9) domain

    RNA

    1. XR_001746267.2 RNA Sequence

      Related
      ENST00000467750.5
    2. XR_001746268.1 RNA Sequence

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