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    VMP1 vacuole membrane protein 1 [ Homo sapiens (human) ]

    Gene ID: 81671, updated on 3-Nov-2024

    Summary

    Official Symbol
    VMP1provided by HGNC
    Official Full Name
    vacuole membrane protein 1provided by HGNC
    Primary source
    HGNC:HGNC:29559
    See related
    Ensembl:ENSG00000062716 MIM:611753; AllianceGenome:HGNC:29559
    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
    EPG3; TANGO5; TMEM49
    Summary
    This gene encodes a transmembrane protein that plays a key regulatory role in the process of autophagy. The ectopic overexpression of the encoded protein in cultured cells triggers autophagy even under nutrient-rich conditions. This gene is overexpressed in pancreatitis affected acinar cells where the encoded protein mediates sequestration and degradation of potentially deleterious activated zymogen granules in a process termed, zymophagy. [provided by RefSeq, Jul 2016]
    Expression
    Ubiquitous expression in gall bladder (RPKM 60.7), appendix (RPKM 49.2) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See VMP1 in Genome Data Viewer
    Location:
    17q23.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (59707654..59842255)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (60576403..60711009)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (57785015..57919616)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 22 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8782 Neighboring gene clathrin heavy chain Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:57760547-57761746 Neighboring gene Sharpr-MPRA regulatory region 12460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12513 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:57780642-57781146 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:57781147-57781650 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:57784605-57785260 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:57794547-57795046 Neighboring gene peptidyl-tRNA hydrolase 2 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:57831571-57832770 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:57845677-57846178 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:57860713-57861526 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12515 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12516 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:57911971-57912470 Neighboring gene VISTA enhancer hs1656 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:57917673-57918402 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:57919688-57919882 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:57923900-57924888 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8783 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12518 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12519 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:57931677-57932291 Neighboring gene RNA, U6 small nuclear 450, pseudogene Neighboring gene microRNA 21 Neighboring gene tubulin delta 1 Neighboring gene NADH:ubiquinone oxidoreductase subunit B8 pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    EBI GWAS Catalog

    Description
    Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of vacuole membrane protein 1 (VMP1) by siRNA inhibits HIV-1 replication in CD4+/CCR5+/CXCR4+ TZM-bl HeLa cells 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

    • DKFZp566I133

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phospholipid scramblase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in autophagosome membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in endomembrane system IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum-Golgi intermediate compartment membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     
    located_in phagophore assembly site IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    vacuole membrane protein 1
    Names
    ectopic P-granules autophagy protein 3 homolog
    transmembrane protein 49
    transport and golgi organization 5 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.

    Genomic

    1. NG_051107.1 RefSeqGene

      Range
      5190..139791
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001329394.2NP_001316323.1  vacuole membrane protein 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC004686, AC025858, AC040904, AC091271
      Consensus CDS
      CCDS11619.1
      UniProtKB/Swiss-Prot
      B4DVV9, Q96GC9, Q9H0P4, Q9P089
      UniProtKB/TrEMBL
      K7ELS2
      Related
      ENSP00000466511.2, ENST00000591315.6
      Conserved Domains (1) summary
      cl00429
      Location:247298
      SNARE_assoc; SNARE associated Golgi protein
    2. NM_001329395.2NP_001316324.1  vacuole membrane protein 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC004686, AC025858, AC040904, AC091271
      UniProtKB/TrEMBL
      K7ELS2, K7EPE7
      Related
      ENSP00000467350.2, ENST00000591877.2
      Conserved Domains (1) summary
      cl00429
      Location:247298
      SNARE_assoc; SNARE associated Golgi protein
    3. NM_001329396.2NP_001316325.1  vacuole membrane protein 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC004686, AC025858, AC040904, AC091271
      UniProtKB/TrEMBL
      K7ELS2
    4. NM_001329397.2NP_001316326.1  vacuole membrane protein 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AK024969, AK293664, BC009758, BM803108, BQ002999, CA412810, CB216599, DC428792
      UniProtKB/TrEMBL
      B4DEJ9
    5. NM_001329398.2NP_001316327.1  vacuole membrane protein 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC004686, AC025858, AC040904, AC091271
    6. NM_001329399.2NP_001316328.1  vacuole membrane protein 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AK024969, AK294854, BM803108, BQ002999, CA412810, CB216599, DC428792
      UniProtKB/TrEMBL
      B4DGZ7
      Conserved Domains (1) summary
      cl00429
      Location:150201
      SNARE_assoc; SNARE associated Golgi protein
    7. NM_001329400.2NP_001316329.1  vacuole membrane protein 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AK024969, AK293578, BM803108, BQ002999, CA412810, CB216599
      UniProtKB/TrEMBL
      B4DED7
      Conserved Domains (1) summary
      cl00429
      Location:113164
      SNARE_assoc; SNARE associated Golgi protein
    8. NM_001329401.2NP_001316330.1  vacuole membrane protein 1 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC004686, AC025858, AC040904, AC091271
    9. NM_001329402.2NP_001316331.1  vacuole membrane protein 1 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AK024969, AK301254, BM803108, BQ002999, CA412810, CB216599
      Conserved Domains (1) summary
      cl00429
      Location:55106
      SNARE_assoc; SNARE associated Golgi protein
    10. NM_030938.5NP_112200.2  vacuole membrane protein 1 isoform 1

      See identical proteins and their annotated locations for NP_112200.2

      Status: REVIEWED

      Source sequence(s)
      AK024969, BC009758, BM803108, BQ002999, CA412810, CB216599
      Consensus CDS
      CCDS11619.1
      UniProtKB/Swiss-Prot
      B4DVV9, Q96GC9, Q9H0P4, Q9P089
      UniProtKB/TrEMBL
      K7ELS2
      Related
      ENSP00000262291.3, ENST00000262291.9
      Conserved Domains (1) summary
      cl00429
      Location:247298
      SNARE_assoc; SNARE associated Golgi protein

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      59707654..59842255
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      60576403..60711009
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)