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    VAMP7 vesicle associated membrane protein 7 [ Homo sapiens (human) ]

    Gene ID: 6845, updated on 3-Dec-2024

    Summary

    Official Symbol
    VAMP7provided by HGNC
    Official Full Name
    vesicle associated membrane protein 7provided by HGNC
    Primary source
    HGNC:HGNC:11486
    See related
    Ensembl:ENSG00000124333 Ensembl:ENSG00000292366 MIM:300053; AllianceGenome:HGNC:11486
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SYBL1; TIVAMP; VAMP-7; TI-VAMP
    Summary
    This gene encodes a transmembrane protein that is a member of the soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) family. The encoded protein localizes to late endosomes and lysosomes and is involved in the fusion of transport vesicles to their target membranes. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]
    Expression
    Ubiquitous expression in placenta (RPKM 18.0), kidney (RPKM 17.3) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See VAMP7 in Genome Data Viewer
    Location:
    Xq28 and Yq12
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (155881345..155943769)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) Y NC_000024.10 (57067865..57130289)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (154109337..154171772)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) Y NC_060948.1 (62306325..62368760)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (155111008..155173433)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) Y NC_000024.9 (59214014..59276439)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene adenosylmethionine decarboxylase 1 pseudogene 2 Neighboring gene diphthamide biosynthesis 3 pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:155137478-155138029 Neighboring gene NANOG hESC enhancer GRCh37_chrY:59291828-59292346 Neighboring gene uncharacterized LOC124905299 Neighboring gene elongin C pseudogene 24

    Chromosome Y - NC_000024.10Genomic Context describing neighboring genes Neighboring gene adenosylmethionine decarboxylase 1 pseudogene 2 Neighboring gene diphthamide biosynthesis 3 pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:155137478-155138029 Neighboring gene NANOG hESC enhancer GRCh37_chrY:59291828-59292346 Neighboring gene uncharacterized LOC124905309 Neighboring gene elongin C pseudogene 24

    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?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2012-09-06)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2012-09-06)

    ClinGen Genome Curation Page

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag Inhibition of endocytosis by siRNA-mediated depletion of EPS15, STX7, RAB7, and VAMP7 restores Gag/p24 expression in the presence of APOL1 PubMed
    gag HIV-1 Gag accumulates in late endosome and co-localizes with TiVamp as a result of disruption of endosomal pathways PubMed
    gag HIV-1 Gag and genomic RNA are transported on endosomal vesicles, in which endosomal protein TiVamp is co-localized and involved in fusion events with the plasma membrane PubMed
    capsid gag Inhibition of endocytosis by siRNA-mediated depletion of EPS15, STX7, RAB7, and VAMP7 restores Gag/p24 expression in the presence of APOL1 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

    Clone Names

    • FLJ53045, FLJ53762, FLJ54296

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SNAP receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables SNARE binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    NOT involved_in autophagosome maturation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in calcium-ion regulated exocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in endoplasmic reticulum to Golgi vesicle-mediated transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in endosome to lysosome transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in endosome to lysosome transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in eosinophil degranulation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in eosinophil degranulation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in natural killer cell degranulation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neutrophil degranulation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neutrophil degranulation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in phagocytosis, engulfment ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of histamine secretion by mast cell IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vesicle fusion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in vesicle fusion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in vesicle-mediated transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of SNARE complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of SNARE complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of SNARE complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in azurophil granule membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in clathrin-coated endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in lamellipodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in late endosome membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in lysosomal membrane HDA PubMed 
    located_in lysosomal membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in lysosomal membrane TAS
    Traceable Author Statement
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuron projection ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in phagocytic vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in phagocytic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in platelet alpha granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in pseudopodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in secretory granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in secretory granule membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in transport vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    vesicle-associated membrane protein 7
    Names
    synaptobrevin-like 1
    synaptobrevin-like protein 1
    tetanus neurotoxin-insensitive VAMP
    tetanus-insensitive VAMP

    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.

    Genomic

    1. NG_021435.2 RefSeqGene

      Range
      5002..67426
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001145149.3NP_001138621.1  vesicle-associated membrane protein 7 isoform 2

      See identical proteins and their annotated locations for NP_001138621.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame segment compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AI522002, AJ271736, AJ549301, X92396
      Consensus CDS
      CCDS48199.1
      UniProtKB/TrEMBL
      B4DE96
      Related
      ENSP00000427822.1, ENSP00000518619.1, ENST00000460621.6, ENST00000711265.1
      Conserved Domains (2) summary
      cd15871
      Location:83147
      R-SNARE_VAMP7; SNARE motif of VAMP7
      cd14824
      Location:2775
      Longin; longin domain
    2. NM_001185183.2NP_001172112.1  vesicle-associated membrane protein 7 isoform 3

      See identical proteins and their annotated locations for NP_001172112.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (3) is longer and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AI522002, AJ271736, AJ295938
      Consensus CDS
      CCDS55548.1
      Related
      ENSP00000262640.6, ENSP00000518620.1, ENST00000262640.11, ENST00000711264.1
      Conserved Domains (2) summary
      pfam13774
      Location:29104
      Longin; Regulated-SNARE-like domain
      cl22856
      Location:124144
      SNARE; SNARE motif
    3. NM_005638.6NP_005629.1  vesicle-associated membrane protein 7 isoform 1

      See identical proteins and their annotated locations for NP_005629.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform (1).
      Source sequence(s)
      AI522002, BC056141
      Consensus CDS
      CCDS14770.4
      UniProtKB/Swiss-Prot
      P51809, Q53GY7, Q7Z409, Q9H4A7
      UniProtKB/TrEMBL
      B2R6P4
      Related
      ENSP00000286448.6, ENSP00000518622.1, ENST00000286448.12, ENST00000711260.1
      Conserved Domains (2) summary
      cd15871
      Location:124188
      R-SNARE_VAMP7; SNARE motif of VAMP7
      cd14824
      Location:4116
      Longin; longin domain

    RNA

    1. NR_033714.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AI522002, AJ271736, AK297385, X92396
    2. NR_033715.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AI522002, AJ271736, AK295605, X92396

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      155881345..155943769
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029760.2XP_016885249.1  vesicle-associated membrane protein 7 isoform X2

      UniProtKB/TrEMBL
      B4DE96
      Conserved Domains (2) summary
      cd15871
      Location:77141
      R-SNARE_VAMP7; SNARE motif of VAMP7
      cd14824
      Location:369
      Longin; longin domain
    2. XM_011531188.2XP_011529490.1  vesicle-associated membrane protein 7 isoform X1

      See identical proteins and their annotated locations for XP_011529490.1

      Conserved Domains (2) summary
      pfam13774
      Location:351
      Longin; Regulated-SNARE-like domain
      cl22856
      Location:7797
      SNARE; SNARE motif

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000024.10 Reference GRCh38.p14 Primary Assembly

      Range
      57067865..57130289
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017030063.2XP_016885552.1  vesicle-associated membrane protein 7 isoform X2

      UniProtKB/TrEMBL
      B4DE96
      Conserved Domains (2) summary
      cd15871
      Location:77141
      R-SNARE_VAMP7; SNARE motif of VAMP7
      cd14824
      Location:369
      Longin; longin domain
    2. XM_011545653.2XP_011543955.1  vesicle-associated membrane protein 7 isoform X1

      See identical proteins and their annotated locations for XP_011543955.1

      Conserved Domains (2) summary
      pfam13774
      Location:351
      Longin; Regulated-SNARE-like domain
      cl22856
      Location:7797
      SNARE; SNARE motif

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      154109337..154171772
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327627.1XP_054183602.1  vesicle-associated membrane protein 7 isoform X2

      UniProtKB/TrEMBL
      B4DE96
    2. XM_054327626.1XP_054183601.1  vesicle-associated membrane protein 7 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060948.1 Alternate T2T-CHM13v2.0

      Range
      62306325..62368760
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328325.1XP_054184300.1  vesicle-associated membrane protein 7 isoform X2

      UniProtKB/TrEMBL
      B4DE96
    2. XM_054328324.1XP_054184299.1  vesicle-associated membrane protein 7 isoform X1

    3. XM_054328323.1XP_054184298.1  vesicle-associated membrane protein 7 isoform X4

      UniProtKB/Swiss-Prot
      P51809, Q53GY7, Q7Z409, Q9H4A7
      UniProtKB/TrEMBL
      B2R6P4
    4. XM_054328322.1XP_054184297.1  vesicle-associated membrane protein 7 isoform X3