Aliases for VPS37D Gene

Aliases for VPS37D Gene

  • VPS37D Subunit Of ESCRT-I 2 3 5
  • Williams-Beuren Syndrome Chromosomal Region 24 Protein 3 4
  • Vacuolar Protein Sorting-Associated Protein 37D 3 4
  • Williams Beuren Syndrome Chromosome Region 24 2 3
  • ESCRT-I Complex Subunit VPS37D 3 4
  • WBSCR24 3 4
  • Vacuolar Protein Sorting 37 Homolog D (S. Cerevisiae) 2
  • Williams-Beuren Syndrome Critical Region Protein 24 3
  • Williams-Beuren Syndrome Region Protein 24 3
  • Vacuolar Protein Sorting 37 Homolog D 3
  • Vacuolar Protein Sorting 37D (Yeast) 2
  • Vacuolar Protein Sorting 37D 3
  • VPS37D, ESCRT-I Subunit 3

External Ids for VPS37D Gene

Previous HGNC Symbols for VPS37D Gene

  • WBSCR24

Previous GeneCards Identifiers for VPS37D Gene

  • GC07P072507
  • GC07P072700
  • GC07P073082
  • GC07P068964

Summaries for VPS37D Gene

GeneCards Summary for VPS37D Gene

VPS37D (VPS37D Subunit Of ESCRT-I) is a Protein Coding gene. Diseases associated with VPS37D include Williams-Beuren Syndrome. Among its related pathways are Budding and maturation of HIV virion and HIV Life Cycle. An important paralog of this gene is VPS37B.

UniProtKB/Swiss-Prot Summary for VPS37D Gene

  • Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in cell growth and differentiation.

Additional gene information for VPS37D Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for VPS37D Gene

Genomics for VPS37D Gene

GeneHancer (GH) Regulatory Elements for VPS37D Gene

Promoters and enhancers for VPS37D Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around VPS37D on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for VPS37D

Genomic Locations for VPS37D Gene

Genomic Locations for VPS37D Gene
chr7:73,667,831-73,672,112
(GRCh38/hg38)
Size:
4,282 bases
Orientation:
Plus strand
chr7:73,082,155-73,086,442
(GRCh37/hg19)
Size:
4,288 bases
Orientation:
Plus strand

Genomic View for VPS37D Gene

Genes around VPS37D on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VPS37D Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VPS37D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VPS37D Gene

Proteins for VPS37D Gene

  • Protein details for VPS37D Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86XT2-VP37D_HUMAN
    Recommended name:
    Vacuolar protein sorting-associated protein 37D
    Protein Accession:
    Q86XT2
    Secondary Accessions:
    • Q6P2C3

    Protein attributes for VPS37D Gene

    Size:
    251 amino acids
    Molecular mass:
    27730 Da
    Quaternary structure:
    • Component of the ESCRT-I complex (endosomal sorting complex required for transport I) which consists of TSG101, VPS28, a VPS37 protein (VPS37A to -D) and MVB12A or MVB12B in a 1:1:1:1 stoichiometry. Interacts with TSG101 and MVB12A. Component of the ESCRT-I complex (endosomal sorting complex required for transport I) which consists of TSG101, VPS28, a VPS37 protein (VPS37A to -D) and UBAP1 in a 1:1:1:1 stoichiometry.
    SequenceCaution:
    • Sequence=AAL91075.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for VPS37D Gene

Post-translational modifications for VPS37D Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for VPS37D Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for VPS37D Gene

Domains & Families for VPS37D Gene

Gene Families for VPS37D Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for VPS37D Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for VPS37D Gene

GenScript: Design optimal peptide antigens:
  • Williams-Beuren syndrome chromosomal region 24 protein (VP37D_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86XT2

UniProtKB/Swiss-Prot:

VP37D_HUMAN :
  • Belongs to the VPS37 family.
Family:
  • Belongs to the VPS37 family.
genes like me logo Genes that share domains with VPS37D: view

Function for VPS37D Gene

Molecular function for VPS37D Gene

UniProtKB/Swiss-Prot Function:
Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in cell growth and differentiation.

Phenotypes From GWAS Catalog for VPS37D Gene

genes like me logo Genes that share phenotypes with VPS37D: view

Animal Models for VPS37D Gene

MGI Knock Outs for VPS37D:
  • Vps37d Vps37d<tm2b(EUCOMM)Wtsi>

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for VPS37D Gene

Localization for VPS37D Gene

Subcellular locations from UniProtKB/Swiss-Prot for VPS37D Gene

Late endosome membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for VPS37D gene
Compartment Confidence
endosome 5
nucleus 2
mitochondrion 1
cytosol 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for VPS37D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000813 ESCRT I complex TAS 20588296
GO:0005768 endosome IEA --
GO:0010008 endosome membrane TAS --
GO:0016020 membrane IEA --
GO:0031902 late endosome membrane IEA --
genes like me logo Genes that share ontologies with VPS37D: view

Pathways & Interactions for VPS37D Gene

genes like me logo Genes that share pathways with VPS37D: view

Pathways by source for VPS37D Gene

Gene Ontology (GO) - Biological Process for VPS37D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006612 protein targeting to membrane IBA 21873635
GO:0006623 protein targeting to vacuole IBA 21873635
GO:0015031 protein transport IEA --
GO:0016197 endosomal transport TAS --
GO:0016236 macroautophagy TAS 20588296
genes like me logo Genes that share ontologies with VPS37D: view

No data available for SIGNOR curated interactions for VPS37D Gene

Drugs & Compounds for VPS37D Gene

No Compound Related Data Available

Transcripts for VPS37D Gene

mRNA/cDNA for VPS37D Gene

2 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for VPS37D Gene

No ASD Table

Relevant External Links for VPS37D Gene

GeneLoc Exon Structure for
VPS37D

Expression for VPS37D Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for VPS37D Gene

Protein differential expression in normal tissues from HIPED for VPS37D Gene

This gene is overexpressed in Urine (65.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for VPS37D Gene



Protein tissue co-expression partners for VPS37D Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for VPS37D

SOURCE GeneReport for Unigene cluster for VPS37D Gene:

Hs.647037
genes like me logo Genes that share expression patterns with VPS37D: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for VPS37D Gene

Orthologs for VPS37D Gene

This gene was present in the common ancestor of animals.

Orthologs for VPS37D Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia VPS37D 31 30
  • 99.47 (n)
OneToOne
dog
(Canis familiaris)
Mammalia VPS37D 31 30
  • 94.29 (n)
OneToOne
cow
(Bos Taurus)
Mammalia VPS37D 31 30
  • 92.43 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Vps37d 17 31 30
  • 90.97 (n)
rat
(Rattus norvegicus)
Mammalia Vps37d 30
  • 90.97 (n)
oppossum
(Monodelphis domestica)
Mammalia VPS37D 31
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves VPS37D 31 30
  • 71.22 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia VPS37D 31
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia vps37d 30
  • 55.49 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC101884856 30
  • 49.73 (n)
VPS37D 31
  • 33 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG1115 31
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea vps-37 31
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10674 31
  • 21 (a)
OneToMany
Species where no ortholog for VPS37D was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for VPS37D Gene

ENSEMBL:
Gene Tree for VPS37D (if available)
TreeFam:
Gene Tree for VPS37D (if available)
Aminode:
Evolutionary constrained regions (ECRs) for VPS37D: view image

Paralogs for VPS37D Gene

Paralogs for VPS37D Gene

(2) SIMAP similar genes for VPS37D Gene using alignment to 2 proteins:

  • VP37D_HUMAN
  • C9JYT9_HUMAN
genes like me logo Genes that share paralogs with VPS37D: view

Variants for VPS37D Gene

Additional dbSNP identifiers (rs#s) for VPS37D Gene

Structural Variations from Database of Genomic Variants (DGV) for VPS37D Gene

Variant ID Type Subtype PubMed ID
nsv1023520 CNV gain 25217958
nsv1076923 CNV deletion 25765185
nsv469841 CNV loss 16826518
nsv831028 CNV loss 17160897

Variation tolerance for VPS37D Gene

Gene Damage Index Score: 0.88; 18.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for VPS37D Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
VPS37D

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for VPS37D Gene

Disorders for VPS37D Gene

MalaCards: The human disease database

(1) MalaCards diseases for VPS37D Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • wbs
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

VP37D_HUMAN
  • Note=VPS37D is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.

Additional Disease Information for VPS37D

genes like me logo Genes that share disorders with VPS37D: view

No data available for Genatlas for VPS37D Gene

Publications for VPS37D Gene

  1. The human endosomal sorting complex required for transport (ESCRT-I) and its role in HIV-1 budding. (PMID: 15218037) Stuchell MD … Sundquist WI (The Journal of biological chemistry 2004) 2 3 4 54
  2. The UBAP1 subunit of ESCRT-I interacts with ubiquitin via a SOUBA domain. (PMID: 22405001) Agromayor M … Williams RL (Structure (London, England : 1993) 2012) 3 4 54
  3. Identification of human MVB12 proteins as ESCRT-I subunits that function in HIV budding. (PMID: 18005716) Morita E … Sundquist WI (Cell host & microbe 2007) 3 4 54
  4. A protein-protein interaction map of the TNF-induced NF-κB signal transduction pathway. (PMID: 30561431) Van Quickelberghe E … Gevaert K (Scientific data 2018) 3 54
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54

Products for VPS37D Gene

Sources for VPS37D Gene