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

Gene ID: 155382, updated on 8-Dec-2022

Summary

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
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Genomic context

See VPS37D in Genome Data Viewer
Location:
7q11.23
Exon count:
6
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (73665347..73672110)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (74868746..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 MLX interacting protein like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73017160-73017696 Neighboring gene Sharpr-MPRA regulatory region 8994 Neighboring gene DnaJ heat shock protein family (Hsp40) member C30 Neighboring gene BUD23 rRNA methyltransferase and ribosome maturation factor

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
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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • MGC35352

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
part_of ESCRT I complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

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_001077621.2NP_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:22165
    Mod_r; Modifier of rudimentary (Mod(r)) protein
    NF033930
    Location:138248
    pneumo_PspA; pneumococcal surface protein A

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_017011779.2XP_016867268.1  vacuolar protein sorting-associated protein 37D isoform X1

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

    Conserved Domains (2) summary
    PRK14950
    Location:100173
    PRK14950; DNA polymerase III subunits gamma and tau; Provisional
    pfam07200
    Location:289
    Mod_r; Modifier of rudimentary (Mod(r)) protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    74868746..74873025
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.