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

Gene ID: 26130, updated on 24-Nov-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
109.20201120 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

Bibliography

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 (3) 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
    pfam18151
    Location:12451308
    DUF5601; Domain of unknown function (DUF5601)
  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 (3) 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
    pfam18151
    Location:12241287
    DUF5601; Domain of unknown function (DUF5601)
  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 (3) 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
    pfam18151
    Location:11971260
    DUF5601; Domain of unknown function (DUF5601)
  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 (3) 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
    pfam18151
    Location:12181281
    DUF5601; Domain of unknown function (DUF5601)
  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 (3) 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
    pfam18151
    Location:12451308
    DUF5601; Domain of unknown function (DUF5601)
  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 (3) 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
    pfam18151
    Location:12451308
    DUF5601; Domain of unknown function (DUF5601)
  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 (3) 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
    pfam18151
    Location:12451308
    DUF5601; Domain of unknown function (DUF5601)
  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 (3) 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
    pfam18151
    Location:12241287
    DUF5601; Domain of unknown function (DUF5601)
  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 (3) 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
    pfam18151
    Location:12451308
    DUF5601; Domain of unknown function (DUF5601)
  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 (3) 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
    pfam18151
    Location:12451308
    DUF5601; Domain of unknown function (DUF5601)
  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 (3) 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
    pfam18151
    Location:12241287
    DUF5601; Domain of unknown function (DUF5601)
  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 (3) 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
    pfam18151
    Location:12451308
    DUF5601; Domain of unknown function (DUF5601)
  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 (3) 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
    pfam18151
    Location:12721335
    DUF5601; Domain of unknown function (DUF5601)

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 109.20201120

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 (3) 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
    pfam18151
    Location:12451308
    DUF5601; Domain of unknown function (DUF5601)
  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 (3) 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
    pfam18151
    Location:12721335
    DUF5601; Domain of unknown function (DUF5601)
  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 (3) 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
    pfam18151
    Location:12721335
    DUF5601; Domain of unknown function (DUF5601)
  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 (3) 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
    pfam18151
    Location:12181281
    DUF5601; Domain of unknown function (DUF5601)
  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 (3) 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
    pfam18151
    Location:12181281
    DUF5601; Domain of unknown function (DUF5601)
  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 (3) 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
    pfam18151
    Location:12241287
    DUF5601; Domain of unknown function (DUF5601)
  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 (3) 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
    pfam18151
    Location:12721335
    DUF5601; Domain of unknown function (DUF5601)
  10. XM_017014600.1XP_016870089.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X1

    UniProtKB/TrEMBL
    A0A024R8A2
    Conserved Domains (3) 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
    pfam18151
    Location:12721335
    DUF5601; Domain of unknown function (DUF5601)
  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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