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

Gene ID: 26130, updated on 7-Aug-2022

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; AllianceGenome:HGNC:23375
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
Summary
Enables GTPase activating protein binding activity and guanyl-nucleotide exchange factor activity. Involved in regulation of protein transport. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 13.1), thyroid (RPKM 9.8) and 25 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See GAPVD1 in Genome Data Viewer
Location:
9q33.3
Exon count:
32
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (125261826..125367207)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (137460139..137566391)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (128024105..128129486)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 7891 Neighboring gene Sharpr-MPRA regulatory region 12295 Neighboring gene ribosomal protein S10 pseudogene 17 Neighboring gene RNA, U6 small nuclear 1020, pseudogene Neighboring gene Sharpr-MPRA regulatory region 13338 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

GeneRIFs: Gene References Into Functions

What'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 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
enables GTPase activating protein binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables GTPase activator activity IEA
Inferred from Electronic Annotation
more info
 
enables cadherin binding HDA PubMed 
enables guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables guanyl-nucleotide exchange factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables small GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in endocytosis IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of protein transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
is_active_in endocytic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endosome IEA
Inferred from Electronic Annotation
more info
 
located_in 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)

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_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, Q9Y4N0
    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
    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)
  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
    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 Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    125261826..125367207
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047423183.1XP_047279139.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X1

  2. XM_047423204.1XP_047279160.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X7

  3. XM_047423182.1XP_047279138.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X1

  4. XM_047423193.1XP_047279149.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X3

  5. XM_047423205.1XP_047279161.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X7

  6. XM_047423200.1XP_047279156.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X5

  7. XM_047423180.1XP_047279136.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X1

  8. XM_047423189.1XP_047279145.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X3

  9. XM_047423194.1XP_047279150.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X5

  10. XM_047423207.1XP_047279163.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X8

  11. XM_047423181.1XP_047279137.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X1

  12. XM_047423202.1XP_047279158.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X7

  13. XM_047423186.1XP_047279142.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X2

  14. XM_047423195.1XP_047279151.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X5

  15. XM_047423208.1XP_047279164.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X8

  16. XM_047423179.1XP_047279135.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X1

  17. XM_047423190.1XP_047279146.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X3

  18. XM_047423196.1XP_047279152.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X5

  19. XM_047423177.1XP_047279133.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X1

  20. XM_047423201.1XP_047279157.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X7

  21. XM_047423187.1XP_047279143.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X2

  22. XM_011518500.3XP_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)
  23. XM_047423192.1XP_047279148.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X4

  24. XM_017014609.2XP_016870098.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X7

    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)
  25. XM_047423185.1XP_047279141.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X2

  26. XM_047423198.1XP_047279154.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X6

  27. XM_017014606.2XP_016870095.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X5

    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)
  28. XM_011518499.3XP_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)
  29. XM_011518507.3XP_011516809.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X4

    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)
  30. XM_005251904.4XP_005251961.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X7

    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)
  31. XM_011518506.3XP_011516808.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X2

    Conserved Domains (3) 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
    pfam18151
    Location:12511314
    DUF5601; Domain of unknown function (DUF5601)
  32. XM_047423178.1XP_047279134.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X1

  33. XM_047423191.1XP_047279147.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X3

  34. XM_047423203.1XP_047279159.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X7

  35. XM_047423188.1XP_047279144.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X2

  36. XM_047423197.1XP_047279153.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X5

  37. XM_047423209.1XP_047279165.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X8

  38. XM_047423184.1XP_047279140.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X2

  39. XM_047423199.1XP_047279155.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X6

  40. XM_047423206.1XP_047279162.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X8

    Related
    ENSP00000377645.2, ENST00000394083.6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    137460139..137566391
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)