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

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, Nov 2024]
Expression: Ubiquitous expression in testis (RPKM 8.2), brain (RPKM 7.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q27.2

Exon count:: 59

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (184812166..185052614)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (187627968..187868623)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (184529954..184770402)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Vps3 and Vps8 are required for recycling of beta1 integrins.
Title: Vps3 and Vps8 control integrin trafficking from early to recycling endosomes and regulate integrin-dependent functions.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed
Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH104275 (e-PCR)
- UniSTS:98600

SHGC-84632 (e-PCR)
- UniSTS:102956

G66857 (e-PCR)
- UniSTS:166719

RH122785 (e-PCR)
- UniSTS:135019

RH93134 (e-PCR)
- UniSTS:87676

SHGC-32608 (e-PCR)
- UniSTS:19337

SHGC-77614 (e-PCR)
- UniSTS:36525

SHGC-77636 (e-PCR)
- UniSTS:47595

WI-11224 (e-PCR)
- UniSTS:36335

SHGC-84430 (e-PCR)
- UniSTS:183799

RH104232 (e-PCR)
- UniSTS:98557

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
involved_in endosomal vesicle fusion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endosomal vesicle fusion	NAS Non-traceable Author Statement more info	PubMed
involved_in protein targeting to vacuole	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of SNARE complex assembly	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of CORVET complex	IBA Inferred from Biological aspect of Ancestor more info
part_of CORVET complex	NAS Non-traceable Author Statement more info	PubMed
part_of HOPS complex	IBA Inferred from Biological aspect of Ancestor more info
is_active_in early endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in late endosome	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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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)

NM_001009921.3 → NP_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

A8K8Q8, B9EIQ1, C9JB61, O94896, Q63HP2, Q8N3P4, Q9BVP9, Q9H9B0

UniProtKB/TrEMBL

C9JJN9

Related

ENSP00000487164.1, ENST00000625842.3

Conserved Domains (4) summary

sd00039
Location:202 → 239

7WD40; WD40 repeat [structural motif]

pfam12816
Location:614 → 796

Vps8; Golgi CORVET complex core vacuolar protein 8

cd16687
Location:1256 → 1310

RING-H2_Vps8; RING finger, H2 subclass, found in vacuolar protein sorting-associated protein 8 (Vps8) and similar proteins

cl25539
Location:197 → 298

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 ...
NM_001349292.2 → NP_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

A8K8Q8, B9EIQ1, C9JB61, O94896, Q63HP2, Q8N3P4, Q9BVP9, Q9H9B0

UniProtKB/TrEMBL

C9JJN9

Conserved Domains (4) summary

sd00039
Location:202 → 239

7WD40; WD40 repeat [structural motif]

pfam12816
Location:614 → 796

Vps8; Golgi CORVET complex core vacuolar protein 8

cd16687
Location:1256 → 1310

RING-H2_Vps8; RING finger, H2 subclass, found in vacuolar protein sorting-associated protein 8 (Vps8) and similar proteins

cl25539
Location:197 → 298

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 ...
NM_001349293.2 → NP_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

A8K8Q8, B9EIQ1, C9JB61, O94896, Q63HP2, Q8N3P4, Q9BVP9, Q9H9B0

UniProtKB/TrEMBL

C9JJN9

Conserved Domains (4) summary

sd00039
Location:202 → 239

7WD40; WD40 repeat [structural motif]

pfam12816
Location:614 → 796

Vps8; Golgi CORVET complex core vacuolar protein 8

cd16687
Location:1256 → 1310

RING-H2_Vps8; RING finger, H2 subclass, found in vacuolar protein sorting-associated protein 8 (Vps8) and similar proteins

cl25539
Location:197 → 298

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 ...
NM_001349294.2 → NP_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

A8K8Q8, B9EIQ1, C9JB61, O94896, Q63HP2, Q8N3P4, Q9BVP9, Q9H9B0

UniProtKB/TrEMBL

C9JJN9

Conserved Domains (4) summary

sd00039
Location:202 → 239

7WD40; WD40 repeat [structural motif]

pfam12816
Location:614 → 796

Vps8; Golgi CORVET complex core vacuolar protein 8

cd16687
Location:1256 → 1310

RING-H2_Vps8; RING finger, H2 subclass, found in vacuolar protein sorting-associated protein 8 (Vps8) and similar proteins

cl25539
Location:197 → 298

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 ...
NM_001349295.1 → NP_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

A8K8Q8, B9EIQ1, C9JB61, O94896, Q63HP2, Q8N3P4, Q9BVP9, Q9H9B0

UniProtKB/TrEMBL

C9JJN9

Conserved Domains (4) summary

sd00039
Location:202 → 239

7WD40; WD40 repeat [structural motif]

pfam12816
Location:614 → 796

Vps8; Golgi CORVET complex core vacuolar protein 8

cd16687
Location:1256 → 1310

RING-H2_Vps8; RING finger, H2 subclass, found in vacuolar protein sorting-associated protein 8 (Vps8) and similar proteins

cl25539
Location:197 → 298

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 ...
NM_001349296.2 → NP_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

UniProtKB/TrEMBL

C9JJN9

Conserved Domains (4) summary

sd00039
Location:189 → 226

7WD40; WD40 repeat [structural motif]

pfam12816
Location:601 → 783

Vps8; Golgi CORVET complex core vacuolar protein 8

cd16687
Location:1243 → 1297

RING-H2_Vps8; RING finger, H2 subclass, found in vacuolar protein sorting-associated protein 8 (Vps8) and similar proteins

cl25539
Location:91 → 294

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 ...
NM_001349297.2 → NP_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:41 → 223

Vps8; Golgi CORVET complex core vacuolar protein 8

cd16687
Location:683 → 737

RING-H2_Vps8; RING finger, H2 subclass, found in vacuolar protein sorting-associated protein 8 (Vps8) and similar proteins
NM_001349298.2 → NP_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:14 → 196

Vps8; Golgi CORVET complex core vacuolar protein 8

cd16687
Location:656 → 710

RING-H2_Vps8; RING finger, H2 subclass, found in vacuolar protein sorting-associated protein 8 (Vps8) and similar proteins
NM_015303.4 → NP_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/TrEMBL

C9JJN9

Related

ENSP00000404704.2, ENST00000436792.6

Conserved Domains (4) summary

sd00039
Location:200 → 237

7WD40; WD40 repeat [structural motif]

pfam12816
Location:612 → 794

Vps8; Golgi CORVET complex core vacuolar protein 8

cd16687
Location:1254 → 1308

RING-H2_Vps8; RING finger, H2 subclass, found in vacuolar protein sorting-associated protein 8 (Vps8) and similar proteins

cl25539
Location:195 → 296

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

NR_146113.2 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC025573, AC107294, AC117436
NR_146114.2 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC107294

Related

ENST00000485024.1
NR_146115.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC107294
NR_146116.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC107294

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

184812166..185052614

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047447824.1 → XP_047303780.1 vacuolar protein sorting-associated protein 8 homolog isoform X2
XM_024453426.2 → XP_024309194.1 vacuolar protein sorting-associated protein 8 homolog isoform X1

UniProtKB/Swiss-Prot

A8K8Q8, B9EIQ1, C9JB61, O94896, Q63HP2, Q8N3P4, Q9BVP9, Q9H9B0

UniProtKB/TrEMBL

C9JJN9

Conserved Domains (4) summary

sd00039
Location:202 → 239

7WD40; WD40 repeat [structural motif]

pfam12816
Location:614 → 796

Vps8; Golgi CORVET complex core vacuolar protein 8

cd16687
Location:1256 → 1310

RING-H2_Vps8; RING finger, H2 subclass, found in vacuolar protein sorting-associated protein 8 (Vps8) and similar proteins

cl25539
Location:197 → 298

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 ...
XM_047447823.1 → XP_047303779.1 vacuolar protein sorting-associated protein 8 homolog isoform X2
XM_024453428.2 → XP_024309196.1 vacuolar protein sorting-associated protein 8 homolog isoform X2

UniProtKB/TrEMBL

C9JJN9

Conserved Domains (4) summary

sd00039
Location:200 → 237

7WD40; WD40 repeat [structural motif]

pfam12816
Location:612 → 794

Vps8; Golgi CORVET complex core vacuolar protein 8

cd16687
Location:1254 → 1308

RING-H2_Vps8; RING finger, H2 subclass, found in vacuolar protein sorting-associated protein 8 (Vps8) and similar proteins

cl25539
Location:195 → 296

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 ...
XM_005247253.6 → XP_005247310.1 vacuolar protein sorting-associated protein 8 homolog isoform X4

UniProtKB/TrEMBL

B3KPR6

Conserved Domains (2) summary

sd00039
Location:202 → 239

7WD40; WD40 repeat [structural motif]

cl29593
Location:197 → 298

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 ...
XM_047447827.1 → XP_047303783.1 vacuolar protein sorting-associated protein 8 homolog isoform X5
XM_017006041.3 → XP_016861530.1 vacuolar protein sorting-associated protein 8 homolog isoform X9
XM_047447828.1 → XP_047303784.1 vacuolar protein sorting-associated protein 8 homolog isoform X10
XM_047447821.1 → XP_047303777.1 vacuolar protein sorting-associated protein 8 homolog isoform X1

UniProtKB/Swiss-Prot

A8K8Q8, B9EIQ1, C9JB61, O94896, Q63HP2, Q8N3P4, Q9BVP9, Q9H9B0
XM_047447825.1 → XP_047303781.1 vacuolar protein sorting-associated protein 8 homolog isoform X2
XM_047447822.1 → XP_047303778.1 vacuolar protein sorting-associated protein 8 homolog isoform X1

UniProtKB/Swiss-Prot

A8K8Q8, B9EIQ1, C9JB61, O94896, Q63HP2, Q8N3P4, Q9BVP9, Q9H9B0
XM_047447826.1 → XP_047303782.1 vacuolar protein sorting-associated protein 8 homolog isoform X3
XM_011512599.3 → XP_011510901.1 vacuolar protein sorting-associated protein 8 homolog isoform X6

Conserved Domains (2) summary

pfam12816
Location:83 → 265

Vps8; Golgi CORVET complex core vacuolar protein 8

pfam13639
Location:727 → 760

zf-RING_2; Ring finger domain
XM_006713556.5 → XP_006713619.1 vacuolar protein sorting-associated protein 8 homolog isoform X7

Conserved Domains (2) summary

pfam12816
Location:42 → 224

Vps8; Golgi CORVET complex core vacuolar protein 8

pfam13639
Location:686 → 719

zf-RING_2; Ring finger domain
XM_011512600.4 → XP_011510902.1 vacuolar protein sorting-associated protein 8 homolog isoform X8

Related

ENST00000492449.5

Conserved Domains (2) summary

pfam12816
Location:35 → 217

Vps8; Golgi CORVET complex core vacuolar protein 8

pfam13639
Location:679 → 712

zf-RING_2; Ring finger domain

Alternate T2T-CHM13v2.0

Genomic

NC_060927.1 Alternate T2T-CHM13v2.0

Range

187627968..187868623

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054345891.1 → XP_054201866.1 vacuolar protein sorting-associated protein 8 homolog isoform X2
XM_054345886.1 → XP_054201861.1 vacuolar protein sorting-associated protein 8 homolog isoform X1
XM_054345889.1 → XP_054201864.1 vacuolar protein sorting-associated protein 8 homolog isoform X2
XM_054345890.1 → XP_054201865.1 vacuolar protein sorting-associated protein 8 homolog isoform X2
XM_054345894.1 → XP_054201869.1 vacuolar protein sorting-associated protein 8 homolog isoform X4
XM_054345895.1 → XP_054201870.1 vacuolar protein sorting-associated protein 8 homolog isoform X5
XM_054345899.1 → XP_054201874.1 vacuolar protein sorting-associated protein 8 homolog isoform X9
XM_054345900.1 → XP_054201875.1 vacuolar protein sorting-associated protein 8 homolog isoform X10
XM_054345887.1 → XP_054201862.1 vacuolar protein sorting-associated protein 8 homolog isoform X1
XM_054345892.1 → XP_054201867.1 vacuolar protein sorting-associated protein 8 homolog isoform X2
XM_054345888.1 → XP_054201863.1 vacuolar protein sorting-associated protein 8 homolog isoform X1
XM_054345893.1 → XP_054201868.1 vacuolar protein sorting-associated protein 8 homolog isoform X3
XM_054345896.1 → XP_054201871.1 vacuolar protein sorting-associated protein 8 homolog isoform X6
XM_054345897.1 → XP_054201872.1 vacuolar protein sorting-associated protein 8 homolog isoform X7
XM_054345898.1 → XP_054201873.1 vacuolar protein sorting-associated protein 8 homolog isoform X8