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

Gene ID: 155382, updated on 17-Jun-2019

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

Genomic context

See VPS37D in Genome Data Viewer
Location:
7q11.23
Exon count:
5
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (73665346..73672110)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (73082174..73086440)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene MLX interacting protein like 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

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Assembly Of The HIV Virion, organism-specific biosystem (from REACTOME)
    Assembly Of The HIV Virion, organism-specific biosystemVirion assembly packages all the components required for infectivity. These steps include two copies of the positive sense genomic viral RNA, cellular tRNALys, the viral envelope (Env) protein, the G...
  • Budding and maturation of HIV virion, organism-specific biosystem (from REACTOME)
    Budding and maturation of HIV virion, organism-specific biosystemWith the virus components precariously assembled on the inner leaflet of the plasma membrane, the host cell machinery is required for viral budding. The virus takes advantage of the host ESCRT pathwa...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • ESCRT-I complex, organism-specific biosystem (from KEGG)
    ESCRT-I complex, organism-specific biosystemStructural complex; Genetic information processing; Protein processing
  • ESCRT-I complex, conserved biosystem (from KEGG)
    ESCRT-I complex, conserved biosystemStructural complex; Genetic information processing; Protein processing
  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endosomal Sorting Complex Required For Transport (ESCRT), organism-specific biosystem (from REACTOME)
    Endosomal Sorting Complex Required For Transport (ESCRT), organism-specific biosystemMany plasma membrane proteins are in a constant flux throughout the internal trafficking pathways of the cell. Some receptors are continuously internalized into recycling endosomes and returned to th...
  • HIV Infection, organism-specific biosystem (from REACTOME)
    HIV Infection, organism-specific biosystemThe global pandemic of Human Immunodeficiency Virus (HIV) infection has resulted in tens of millions of people infected by the virus and millions more affected. UNAIDS estimates around 40 million ...
  • HIV Life Cycle, organism-specific biosystem (from REACTOME)
    HIV Life Cycle, organism-specific biosystemThe life cycle of HIV-1 is divided into early and late phases, shown schematically in the figure. In the early phase, an HIV-1 virion binds to receptors and co-receptors on the human host cell surfac...
  • Infectious disease, organism-specific biosystem (from REACTOME)
    Infectious disease, organism-specific biosystem
    Infectious disease
  • Late Phase of HIV Life Cycle, organism-specific biosystem (from REACTOME)
    Late Phase of HIV Life Cycle, organism-specific biosystemThe late phase of the HIV-1 life cycle includes the regulated expression of the HIV gene products and the assembly of viral particles. The assembly of viral particles will be covered in a later relea...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Membrane binding and targetting of GAG proteins, organism-specific biosystem (from REACTOME)
    Membrane binding and targetting of GAG proteins, organism-specific biosystemOne of the mysteries of Gag protein involvement in HIV virion assembly is how the proteins are targeted to the proper membrane for budding. Infectious retroviruses do not bud from all of the availabl...
  • Synthesis And Processing Of GAG, GAGPOL Polyproteins, organism-specific biosystem (from REACTOME)
    Synthesis And Processing Of GAG, GAGPOL Polyproteins, organism-specific biosystemEvidence suggests that the RNA molecules used for the synthesis of Gag and Gag-Pro-Pol are not the same molecules that are packaged into virions. Gag proteins do not appear to aggregate around and ca...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • MGC35352

Gene Ontology Provided by GOA

Process Evidence Code Pubs
endosomal transport TAS
Traceable Author Statement
more info
 
endosome transport via multivesicular body sorting pathway IEA
Inferred from Electronic Annotation
more info
 
intracellular transport of virus TAS
Traceable Author Statement
more info
 
macroautophagy TAS
Traceable Author Statement
more info
PubMed 
multivesicular body assembly TAS
Traceable Author Statement
more info
PubMed 
protein targeting to membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein targeting to vacuole IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
viral budding via host ESCRT complex TAS
Traceable Author Statement
more info
PubMed 
viral life cycle TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
ESCRT I complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ESCRT I complex IDA
Inferred from Direct Assay
more info
PubMed 
ESCRT I complex TAS
Traceable Author Statement
more info
PubMed 
endosome membrane TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
host cell IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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
    pfam04503
    Location:179251
    SSDP; Single-stranded DNA binding protein, SSDP
    pfam07200
    Location:22164
    Mod_r; Modifier of rudimentary (Mod(r)) protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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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