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

Gene ID: 155382, updated on 8-Jul-2021

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
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
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:
5
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (73665346..73672110)
105.20201022 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 Sharpr-MPRA regulatory region 11638 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

Associated conditions

Description Tests
Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.
GeneReviews: Not available
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
GeneReviews: Not available

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 TAS
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
    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 Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    73665346..73672110
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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.
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