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    VPS37D VPS37D subunit of ESCRT-I [ Homo sapiens (human) ]

    Gene ID: 155382, updated on 10-Dec-2024

    Summary

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    Official Symbol
    VPS37Dprovided by HGNC
    Official Full Name
    VPS37D subunit of ESCRT-Iprovided by HGNC
    Primary source
    HGNC:HGNC:18287
    See related
    Ensembl:ENSG00000176428 MIM:610039; AllianceGenome:HGNC:18287
    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
    WBSCR24
    Summary
    Predicted to be involved in protein targeting to membrane; protein targeting to vacuole; and ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway. Located in extracellular exosome. Part of ESCRT I complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in kidney (RPKM 3.2), brain (RPKM 1.6) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See VPS37D in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (73665347..73672110)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (74866261..74873025)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (73082161..73086440)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26125 Neighboring gene transducin beta like 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73001900-73002400 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73002401-73002901 Neighboring gene Sharpr-MPRA regulatory region 5103 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73017160-73017696 Neighboring gene MLX interacting protein like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73021869-73022452 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73049903-73050752 Neighboring gene Sharpr-MPRA regulatory region 8994 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18255 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18256 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18257 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18258 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18259 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73082323-73083318 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26126 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26127 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73098635-73099484 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73099485-73100334 Neighboring gene DnaJ heat shock protein family (Hsp40) member C30 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:73104307-73104476 Neighboring gene BUD23 rRNA methyltransferase and ribosome maturation factor

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. A helical assembly of human ESCRT-I scaffolds reverse-topology membrane scission. Flower TG, et al. Nat Struct Mol Biol, 2020 Jun. PMID 32424346, Free PMC Article
    2. The UBAP1 subunit of ESCRT-I interacts with ubiquitin via a SOUBA domain. Agromayor M, et al. Structure, 2012 Mar 7. PMID 22405001, Free PMC Article
    3. The human endosomal sorting complex required for transport (ESCRT-I) and its role in HIV-1 budding. Stuchell MD, et al. J Biol Chem, 2004 Aug 20. PMID 15218037
    4. UBAP1 is a component of an endosome-specific ESCRT-I complex that is essential for MVB sorting. Stefani F, et al. Curr Biol, 2011 Jul 26. PMID 21757351
    5. Human ESCRT and ALIX proteins interact with proteins of the midbody and function in cytokinesis. Morita E, et al. EMBO J, 2007 Oct 3. PMID 17853893, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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
    Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.
    EBI GWAS Catalog
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • MGC35352

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in macroautophagy TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in membrane fission NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in multivesicular body assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in multivesicular body assembly TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in protein targeting to membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein targeting to vacuole IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in viral budding via host ESCRT complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of ESCRT I complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of ESCRT I complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of ESCRT I complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of ESCRT I complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of ESCRT I complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in endosome membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in endosome membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in late endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    vacuolar protein sorting-associated protein 37D
    Names
    ESCRT-I complex subunit VPS37D
    VPS37D, ESCRT-I subunit
    Williams Beuren syndrome chromosome region 24
    Williams-Beuren syndrome critical region protein 24
    vacuolar protein sorting 37 homolog D
    vacuolar protein sorting 37D
    williams-Beuren syndrome chromosomal region 24 protein
    williams-Beuren syndrome region protein 24

    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_001077621.2 → NP_001071089.1  vacuolar protein sorting-associated protein 37D

      See identical proteins and their annotated locations for NP_001071089.1

      Status: VALIDATED

      Source sequence(s)
      AC073846, AY081952
      Consensus CDS
      CCDS43596.1
      UniProtKB/Swiss-Prot
      Q6P2C3, Q86XT2
      Related
      ENSP00000320416.4, ENST00000324941.5
      Conserved Domains (2) summary
      pfam07200
      Location:22 → 165
      Mod_r; Modifier of rudimentary (Mod(r)) protein
      NF033930
      Location:138 → 248
      pneumo_PspA; pneumococcal surface protein A

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      73665347..73672110
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017011779.2 → XP_016867268.1  vacuolar protein sorting-associated protein 37D isoform X1

    2. XM_047419927.1 → XP_047275883.1  vacuolar protein sorting-associated protein 37D isoform X2

      Conserved Domains (2) summary
      PRK14950
      Location:100 → 173
      PRK14950; DNA polymerase III subunits gamma and tau; Provisional
      pfam07200
      Location:2 → 89
      Mod_r; Modifier of rudimentary (Mod(r)) protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      74866261..74873025
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357361.1 → XP_054213336.1  vacuolar protein sorting-associated protein 37D isoform X1

    2. XM_054357362.1 → XP_054213337.1  vacuolar protein sorting-associated protein 37D isoform X2

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_152560.1: Suppressed sequence

      Description
      NM_152560.1: This RefSeq was permanently suppressed because it contains the wrong CDS.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86XT2.2 GenPept UniProtKB/Swiss-Prot:Q86XT2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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