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

Gene ID: 155382, updated on 5-Mar-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, Apr 2022]
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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Location:
7q11.23
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (73665347..73672110)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (74866261..74873025)
105.20220307 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)

Genotypes

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_2023_10

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

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