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

    Gene ID: 23355, updated on 27-Nov-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See VPS8 in Genome Data Viewer
    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_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374253 Neighboring gene Sharpr-MPRA regulatory region 13352 Neighboring gene long intergenic non-protein coding RNA 2069 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:184498897-184499397 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:184508256-184508756 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20914 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20915 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14970 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14971 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20916 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:184624367-184625028 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:184625029-184625689 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:184629832-184630395 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:184787208-184787708 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:184788784-184788991 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:184792904-184793404 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:184797955-184798456 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:184798457-184798956 Neighboring gene Sharpr-MPRA regulatory region 10617 Neighboring gene chromosome 3 open reading frame 70 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14972 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20917 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr3:184892998-184893522 and GRCh37_chr3:184893523-184894047 Neighboring gene EHHADH antisense RNA 1 Neighboring gene enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase

    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

    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

    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
     
    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

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

    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_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
      A8K8Q8, B9EIQ1, C9JB61, O94896, Q63HP2, Q8N3P4, Q9BVP9, Q9H9B0
      UniProtKB/TrEMBL
      C9JJN9
      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
      A8K8Q8, B9EIQ1, C9JB61, O94896, Q63HP2, Q8N3P4, Q9BVP9, Q9H9B0
      UniProtKB/TrEMBL
      C9JJN9
      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
      A8K8Q8, B9EIQ1, C9JB61, O94896, Q63HP2, Q8N3P4, Q9BVP9, Q9H9B0
      UniProtKB/TrEMBL
      C9JJN9
      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
      A8K8Q8, B9EIQ1, C9JB61, O94896, Q63HP2, Q8N3P4, Q9BVP9, Q9H9B0
      UniProtKB/TrEMBL
      C9JJN9
      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
      A8K8Q8, B9EIQ1, C9JB61, O94896, Q63HP2, Q8N3P4, Q9BVP9, Q9H9B0
      UniProtKB/TrEMBL
      C9JJN9
      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
      UniProtKB/TrEMBL
      C9JJN9
      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/TrEMBL
      C9JJN9
      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: 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

    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
      A8K8Q8, B9EIQ1, C9JB61, O94896, Q63HP2, Q8N3P4, Q9BVP9, Q9H9B0
      UniProtKB/TrEMBL
      C9JJN9
      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

      UniProtKB/TrEMBL
      C9JJN9
      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

      UniProtKB/TrEMBL
      B3KPR6
      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
      A8K8Q8, B9EIQ1, C9JB61, O94896, Q63HP2, Q8N3P4, Q9BVP9, 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
      A8K8Q8, B9EIQ1, C9JB61, O94896, Q63HP2, Q8N3P4, Q9BVP9, 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)

    mRNA and Protein(s)

    1. XM_054345891.1XP_054201866.1  vacuolar protein sorting-associated protein 8 homolog isoform X2

    2. XM_054345886.1XP_054201861.1  vacuolar protein sorting-associated protein 8 homolog isoform X1

    3. XM_054345889.1XP_054201864.1  vacuolar protein sorting-associated protein 8 homolog isoform X2

    4. XM_054345890.1XP_054201865.1  vacuolar protein sorting-associated protein 8 homolog isoform X2

    5. XM_054345894.1XP_054201869.1  vacuolar protein sorting-associated protein 8 homolog isoform X4

    6. XM_054345895.1XP_054201870.1  vacuolar protein sorting-associated protein 8 homolog isoform X5

    7. XM_054345899.1XP_054201874.1  vacuolar protein sorting-associated protein 8 homolog isoform X9

    8. XM_054345900.1XP_054201875.1  vacuolar protein sorting-associated protein 8 homolog isoform X10

    9. XM_054345887.1XP_054201862.1  vacuolar protein sorting-associated protein 8 homolog isoform X1

    10. XM_054345892.1XP_054201867.1  vacuolar protein sorting-associated protein 8 homolog isoform X2

    11. XM_054345888.1XP_054201863.1  vacuolar protein sorting-associated protein 8 homolog isoform X1

    12. XM_054345893.1XP_054201868.1  vacuolar protein sorting-associated protein 8 homolog isoform X3

    13. XM_054345896.1XP_054201871.1  vacuolar protein sorting-associated protein 8 homolog isoform X6

    14. XM_054345897.1XP_054201872.1  vacuolar protein sorting-associated protein 8 homolog isoform X7

    15. XM_054345898.1XP_054201873.1  vacuolar protein sorting-associated protein 8 homolog isoform X8