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VPS8 VPS8 subunit of CORVET complex [ Homo sapiens (human) ]

Gene ID: 23355, updated on 6-Sep-2022

Summary

Official Symbol
VPS8provided by HGNC
Official Full Name
VPS8 subunit of CORVET complexprovided by HGNC
Primary source
HGNC:HGNC:29122
See related
Ensembl:ENSG00000156931 MIM:618366; AllianceGenome:HGNC:29122
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
KIAA0804
Summary
Predicted to enable metal ion binding activity. Involved in endosomal vesicle fusion. Located in early endosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 8.2), brain (RPKM 7.7) and 25 other tissues See more
Orthologs
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Genomic context

See VPS8 in Genome Data Viewer
Location:
3q27.2
Exon count:
59
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (184812166..185052614)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (187627968..187868623)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (184529954..184770402)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374253 Neighboring gene long intergenic non-protein coding RNA 2069 Neighboring gene Sharpr-MPRA regulatory region 13352 Neighboring gene Sharpr-MPRA regulatory region 10617 Neighboring gene chromosome 3 open reading frame 70 Neighboring gene EHHADH antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr3:184892998-184893522 and GRCh37_chr3:184893523-184894047

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

Phenotypes

EBI GWAS Catalog

Description
A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
EBI GWAS Catalog
Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32099

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in endosomal vesicle fusion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in endosomal vesicle fusion IC
Inferred by Curator
more info
PubMed 
involved_in endosomal vesicle fusion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of SNARE complex assembly IC
Inferred by Curator
more info
PubMed 
Component Evidence Code Pubs
part_of CORVET complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of CORVET complex IC
Inferred by Curator
more info
PubMed 
is_active_in early endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in early endosome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
vacuolar protein sorting-associated protein 8 homolog
Names
VPS8, CORVET complex subunit
vacuolar protein sorting 8 homolog

NCBI Reference Sequences (RefSeq)

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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_001009921.3NP_001009921.1  vacuolar protein sorting-associated protein 8 homolog isoform a

    See identical proteins and their annotated locations for NP_001009921.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1, 3, 4, 5, and 6 all encode the same isoform (a).
    Source sequence(s)
    AB018347, AC117436, AK056661, BI914013, DA218768, DA340096
    Consensus CDS
    CCDS46971.1
    UniProtKB/Swiss-Prot
    Q8N3P4, Q9H9B0
    UniProtKB/TrEMBL
    B3KPR6
    Related
    ENSP00000487164.1, ENST00000625842.3
    Conserved Domains (4) summary
    sd00039
    Location:202239
    7WD40; WD40 repeat [structural motif]
    pfam12816
    Location:614796
    Vps8; Golgi CORVET complex core vacuolar protein 8
    cd16687
    Location:12561310
    RING-H2_Vps8; RING finger, H2 subclass, found in vacuolar protein sorting-associated protein 8 (Vps8) and similar proteins
    cl25539
    Location:197298
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  2. NM_001349292.2NP_001336221.1  vacuolar protein sorting-associated protein 8 homolog isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3), as well as variants 1, 4, 5, and 6, encodes isoform a.
    Source sequence(s)
    AC025573, AC107294, AC117436
    Consensus CDS
    CCDS46971.1
    UniProtKB/Swiss-Prot
    Q9H9B0
    Conserved Domains (4) summary
    sd00039
    Location:202239
    7WD40; WD40 repeat [structural motif]
    pfam12816
    Location:614796
    Vps8; Golgi CORVET complex core vacuolar protein 8
    cd16687
    Location:12561310
    RING-H2_Vps8; RING finger, H2 subclass, found in vacuolar protein sorting-associated protein 8 (Vps8) and similar proteins
    cl25539
    Location:197298
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  3. NM_001349293.2NP_001336222.1  vacuolar protein sorting-associated protein 8 homolog isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4), as well as variants 1, 3, 5, and 6, encodes isoform a.
    Source sequence(s)
    AC025573, AC107294, AC117436
    Consensus CDS
    CCDS46971.1
    UniProtKB/Swiss-Prot
    Q9H9B0
    Conserved Domains (4) summary
    sd00039
    Location:202239
    7WD40; WD40 repeat [structural motif]
    pfam12816
    Location:614796
    Vps8; Golgi CORVET complex core vacuolar protein 8
    cd16687
    Location:12561310
    RING-H2_Vps8; RING finger, H2 subclass, found in vacuolar protein sorting-associated protein 8 (Vps8) and similar proteins
    cl25539
    Location:197298
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  4. NM_001349294.2NP_001336223.1  vacuolar protein sorting-associated protein 8 homolog isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5), as well as variants 1, 3, 4, and 6, encodes isoform a.
    Source sequence(s)
    AC025573, AC107294, AC117436
    Consensus CDS
    CCDS46971.1
    UniProtKB/Swiss-Prot
    Q9H9B0
    Conserved Domains (4) summary
    sd00039
    Location:202239
    7WD40; WD40 repeat [structural motif]
    pfam12816
    Location:614796
    Vps8; Golgi CORVET complex core vacuolar protein 8
    cd16687
    Location:12561310
    RING-H2_Vps8; RING finger, H2 subclass, found in vacuolar protein sorting-associated protein 8 (Vps8) and similar proteins
    cl25539
    Location:197298
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  5. NM_001349295.1NP_001336224.1  vacuolar protein sorting-associated protein 8 homolog isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6), as well as variants 1, 3, 4, and 5, encodes isoform a.
    Source sequence(s)
    AC025573, AC107294, AC117436
    Consensus CDS
    CCDS46971.1
    UniProtKB/Swiss-Prot
    Q9H9B0
    Conserved Domains (4) summary
    sd00039
    Location:202239
    7WD40; WD40 repeat [structural motif]
    pfam12816
    Location:614796
    Vps8; Golgi CORVET complex core vacuolar protein 8
    cd16687
    Location:12561310
    RING-H2_Vps8; RING finger, H2 subclass, found in vacuolar protein sorting-associated protein 8 (Vps8) and similar proteins
    cl25539
    Location:197298
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  6. NM_001349296.2NP_001336225.1  vacuolar protein sorting-associated protein 8 homolog isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) encodes isoform c.
    Source sequence(s)
    AC025573, AC107294, AC117436
    Conserved Domains (4) summary
    sd00039
    Location:189226
    7WD40; WD40 repeat [structural motif]
    pfam12816
    Location:601783
    Vps8; Golgi CORVET complex core vacuolar protein 8
    cd16687
    Location:12431297
    RING-H2_Vps8; RING finger, H2 subclass, found in vacuolar protein sorting-associated protein 8 (Vps8) and similar proteins
    cl25539
    Location:91294
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  7. NM_001349297.2NP_001336226.1  vacuolar protein sorting-associated protein 8 homolog isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) encodes isoform d.
    Source sequence(s)
    AC025573, AC107294, AC117436
    Conserved Domains (2) summary
    pfam12816
    Location:41223
    Vps8; Golgi CORVET complex core vacuolar protein 8
    cd16687
    Location:683737
    RING-H2_Vps8; RING finger, H2 subclass, found in vacuolar protein sorting-associated protein 8 (Vps8) and similar proteins
  8. NM_001349298.2NP_001336227.1  vacuolar protein sorting-associated protein 8 homolog isoform e

    Status: VALIDATED

    Description
    Transcript Variant: This variant (9) encodes isoform e.
    Source sequence(s)
    AC025573, AC107294, AC117436
    Conserved Domains (2) summary
    pfam12816
    Location:14196
    Vps8; Golgi CORVET complex core vacuolar protein 8
    cd16687
    Location:656710
    RING-H2_Vps8; RING finger, H2 subclass, found in vacuolar protein sorting-associated protein 8 (Vps8) and similar proteins
  9. NM_015303.4NP_056118.2  vacuolar protein sorting-associated protein 8 homolog isoform b

    See identical proteins and their annotated locations for NP_056118.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AC025573, AC107294, AC117436
    Consensus CDS
    CCDS46972.1
    UniProtKB/Swiss-Prot
    Q8N3P4
    UniProtKB/TrEMBL
    B3KPR6
    Related
    ENSP00000404704.2, ENST00000436792.6
    Conserved Domains (4) summary
    sd00039
    Location:200237
    7WD40; WD40 repeat [structural motif]
    pfam12816
    Location:612794
    Vps8; Golgi CORVET complex core vacuolar protein 8
    cd16687
    Location:12541308
    RING-H2_Vps8; RING finger, H2 subclass, found in vacuolar protein sorting-associated protein 8 (Vps8) and similar proteins
    cl25539
    Location:195296
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RNA

  1. NR_146113.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC025573, AC107294, AC117436
  2. NR_146114.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC107294
    Related
    ENST00000485024.1
  3. NR_146115.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC107294
  4. NR_146116.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC107294

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    184812166..185052614
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047447824.1XP_047303780.1  vacuolar protein sorting-associated protein 8 homolog isoform X2

  2. XM_024453426.2XP_024309194.1  vacuolar protein sorting-associated protein 8 homolog isoform X1

    UniProtKB/Swiss-Prot
    Q9H9B0
    Conserved Domains (4) summary
    sd00039
    Location:202239
    7WD40; WD40 repeat [structural motif]
    pfam12816
    Location:614796
    Vps8; Golgi CORVET complex core vacuolar protein 8
    cd16687
    Location:12561310
    RING-H2_Vps8; RING finger, H2 subclass, found in vacuolar protein sorting-associated protein 8 (Vps8) and similar proteins
    cl25539
    Location:197298
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  3. XM_047447823.1XP_047303779.1  vacuolar protein sorting-associated protein 8 homolog isoform X2

  4. XM_024453428.2XP_024309196.1  vacuolar protein sorting-associated protein 8 homolog isoform X2

    Conserved Domains (4) summary
    sd00039
    Location:200237
    7WD40; WD40 repeat [structural motif]
    pfam12816
    Location:612794
    Vps8; Golgi CORVET complex core vacuolar protein 8
    cd16687
    Location:12541308
    RING-H2_Vps8; RING finger, H2 subclass, found in vacuolar protein sorting-associated protein 8 (Vps8) and similar proteins
    cl25539
    Location:195296
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  5. XM_005247253.6XP_005247310.1  vacuolar protein sorting-associated protein 8 homolog isoform X4

    Conserved Domains (2) summary
    sd00039
    Location:202239
    7WD40; WD40 repeat [structural motif]
    cl29593
    Location:197298
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  6. XM_047447827.1XP_047303783.1  vacuolar protein sorting-associated protein 8 homolog isoform X5

  7. XM_017006041.3XP_016861530.1  vacuolar protein sorting-associated protein 8 homolog isoform X9

  8. XM_047447828.1XP_047303784.1  vacuolar protein sorting-associated protein 8 homolog isoform X10

  9. XM_047447821.1XP_047303777.1  vacuolar protein sorting-associated protein 8 homolog isoform X1

    UniProtKB/Swiss-Prot
    Q9H9B0
  10. XM_047447825.1XP_047303781.1  vacuolar protein sorting-associated protein 8 homolog isoform X2

  11. XM_047447822.1XP_047303778.1  vacuolar protein sorting-associated protein 8 homolog isoform X1

    UniProtKB/Swiss-Prot
    Q9H9B0
  12. XM_047447826.1XP_047303782.1  vacuolar protein sorting-associated protein 8 homolog isoform X3

  13. XM_011512599.3XP_011510901.1  vacuolar protein sorting-associated protein 8 homolog isoform X6

    Conserved Domains (2) summary
    pfam12816
    Location:83265
    Vps8; Golgi CORVET complex core vacuolar protein 8
    pfam13639
    Location:727760
    zf-RING_2; Ring finger domain
  14. XM_006713556.5XP_006713619.1  vacuolar protein sorting-associated protein 8 homolog isoform X7

    Conserved Domains (2) summary
    pfam12816
    Location:42224
    Vps8; Golgi CORVET complex core vacuolar protein 8
    pfam13639
    Location:686719
    zf-RING_2; Ring finger domain
  15. XM_011512600.4XP_011510902.1  vacuolar protein sorting-associated protein 8 homolog isoform X8

    Related
    ENST00000492449.5
    Conserved Domains (2) summary
    pfam12816
    Location:35217
    Vps8; Golgi CORVET complex core vacuolar protein 8
    pfam13639
    Location:679712
    zf-RING_2; Ring finger domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    187627968..187868623
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)