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

Gene ID: 26130, updated on 15-Jul-2015
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; HPRD:10886; MIM:611714; Vega:OTTHUMG00000020678
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
Orthologs
See GAPVD1 in Epigenomics, MapViewer
Location:
9q33.3
Exon count:
35
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 9 NC_000009.12 (125241663..125365011)
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 Rab9 effector protein with kelch motifs Neighboring gene heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) Neighboring gene ribosomal protein S10 pseudogene 17 Neighboring gene uncharacterized LOC101929014 Neighboring gene RNA, U5B small nuclear 5, pseudogene

Replication interactions

Interaction Pubs
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

Products Interactant Other Gene Complex Source Pubs Description

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
 
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
 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of GTPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 
endosome IEA
Inferred from Electronic Annotation
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
GTPase-activating protein and VPS9 domain-containing protein 1
Names
rab5-activating protein 6

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_001282679.1NP_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

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.
    Source sequence(s)
    AB040954, AL354710, AL627223, CB243670, DC318417
    Consensus CDS
    CCDS65132.1
    UniProtKB/Swiss-Prot
    Q14C86
    Related
    ENSP00000377664, ENST00000394104
    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_001282680.1NP_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

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 2.
    Source sequence(s)
    AL627223, BC114937, CB243670, DC318417
    Consensus CDS
    CCDS65131.1
    UniProtKB/TrEMBL
    A0A024R862
    UniProtKB/Swiss-Prot
    Q14C86
    Related
    ENSP00000297933, OTTHUMP00000215490, ENST00000297933, OTTHUMT00000355645
    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_001282681.1NP_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

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and uses two alternate in-frame splice sites in the coding region compared to variant 1. The encoded isoform (3) is shorter than isoform 3.
    Source sequence(s)
    AL354710, AL627223, CB243670, DQ233254
    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_015635.3NP_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

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks an exon, and uses an alternate splice site in the central coding region, compared to variant 1. The encoded isoform (4) is longer, compared to isoform 1.
    Source sequence(s)
    AK056493, AK294542, AL080196, BC114962, BQ943187, CB243670
    Consensus CDS
    CCDS35138.1
    UniProtKB/TrEMBL
    A0A024R8A2
    UniProtKB/TrEMBL
    B4DGD8
    UniProtKB/Swiss-Prot
    Q14C86
    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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p2 Primary Assembly

    Range
    125241663..125365011
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518503.1XP_011516805.1  

    See identical proteins and their annotated locations for XP_011516805.1

    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
  2. XM_011518501.1XP_011516803.1  

    See identical proteins and their annotated locations for XP_011516803.1

    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_011518504.1XP_011516806.1  

    See identical proteins and their annotated locations for XP_011516806.1

    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_011518500.1XP_011516802.1  

    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
  5. XM_011518499.1XP_011516801.1  

    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
  6. XM_011518507.1XP_011516809.1  

    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
  7. XM_005251901.2XP_005251958.1  

    See identical proteins and their annotated locations for XP_005251958.1

    UniProtKB/TrEMBL
    A0A024R862
    UniProtKB/Swiss-Prot
    Q14C86
    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. XM_005251904.2XP_005251961.1  

    See identical proteins and their annotated locations for XP_005251961.1

    UniProtKB/TrEMBL
    A0A024R875
    UniProtKB/Swiss-Prot
    Q14C86
    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
  9. XM_011518506.1XP_011516808.1  

    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
  10. XM_006717044.2XP_006717107.1  

    See identical proteins and their annotated locations for XP_006717107.1

    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
  11. XM_011518508.1XP_011516810.1  

    See identical proteins and their annotated locations for XP_011516810.1

    UniProtKB/TrEMBL
    A0A024R875
    UniProtKB/Swiss-Prot
    Q14C86
    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
  12. XM_011518505.1XP_011516807.1  

    See identical proteins and their annotated locations for XP_011516807.1

    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
  13. XM_011518502.1XP_011516804.1  

    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

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 Alternate CHM1_1.1

    Range
    128173804..128276963
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)