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Aliases for VPS37D Gene

Aliases for VPS37D Gene

  • VPS37D, ESCRT-I Subunit 2 3 5
  • Williams-Beuren Syndrome Chromosomal Region 24 Protein 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
  • Vacuolar Protein Sorting-Associated Protein 37D 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

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

UniProtKB/Swiss-Prot 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.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VPS37D Gene

Genomics for VPS37D Gene

Regulatory Elements for VPS37D Gene

Enhancers for VPS37D Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G073821 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11 +155.2 155159 3.1 HDGF PKNOX1 ATF1 ARNT SIN3A GLIS2 CBX5 GATA2 ELK1 FOS METTL27 VPS37D ABHD11-AS1 CLDN4 CLDN3 GC07P073835
GH07G073849 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.6 +183.1 183131 3.9 PKNOX1 ARNT SIN3A FEZF1 ZNF766 FOS DEK ZNF263 SP3 JUNB METTL27 ELN BUD23 DNAJC30 VPS37D BCL7B GC07M073847 TMEM270
GH07G073645 1.5 FANTOM5 Ensembl ENCODE 13.3 -20.9 -20913 3.7 MLX ARID4B ZNF48 YY1 SLC30A9 GLIS2 ZNF263 SP3 SP5 MXD4 MIR590 POM121 GTF2IRD2P1 METTL27 BAZ1B VPS37D DNAJC30 BUD23 POM121B MLXIPL
GH07G073825 1.6 Ensembl ENCODE dbSUPER 11 +162.1 162112 8.4 HDGF PKNOX1 FOXA2 AGO1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B METTL27 TMEM270 DNAJC30 BUD23 VPS37D ABHD11-AS1 ABHD11 GC07P073835 CLDN4
GH07G073612 1.1 ENCODE 12.6 -54.3 -54343 2.6 PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 PAF1 BCL7B STX1A VPS37D BUD23 DNAJC30 TBL2 RNU6-1198P METTL27 PMS2P7 MLXIPL
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around VPS37D on UCSC Golden Path with GeneCards custom track

Promoters for VPS37D Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000213493 175 1201 HDGF CREB3L1 ARNT ARID4B SIN3A DMAP1 ZBTB7B ZNF143 KLF13 SP3

Genomic Location for VPS37D Gene

Chromosome:
7
Start:
73,667,825 bp from pter
End:
73,672,112 bp from pter
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 stoechiometry. 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 stoechiometry.
    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

Protein Domains for VPS37D Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for VPS37D Gene

GenScript: Design optimal peptide antigens:

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

Animal Models for VPS37D Gene

MGI Knock Outs for VPS37D:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
extracellular 5
endosome 5
nucleus 2
mitochondrion 1
cytosol 1

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:0006810 transport IEA --
GO:0015031 protein transport IEA --
GO:0016197 endosomal transport TAS --
GO:0016236 macroautophagy TAS 20588296
GO:0019058 viral life cycle TAS --
genes like me logo Genes that share ontologies with VPS37D: view

No data available for SIGNOR curated interactions for VPS37D Gene

Transcripts for VPS37D Gene

mRNA/cDNA for VPS37D Gene

Unigene Clusters for VPS37D Gene

Vacuolar protein sorting 37 homolog D (S. cerevisiae):
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
ECgene alternative splicing isoforms for
VPS37D

Expression for VPS37D Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for VPS37D Gene



Protein tissue co-expression partners for VPS37D Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of VPS37D Gene:

VPS37D

SOURCE GeneReport for Unigene cluster for VPS37D Gene:

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

Primer Products

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 34 35
  • 99.47 (n)
dog
(Canis familiaris)
Mammalia VPS37D 34 35
  • 94.29 (n)
cow
(Bos Taurus)
Mammalia VPS37D 34 35
  • 92.43 (n)
mouse
(Mus musculus)
Mammalia Vps37d 34 16 35
  • 90.97 (n)
rat
(Rattus norvegicus)
Mammalia Vps37d 34
  • 90.97 (n)
oppossum
(Monodelphis domestica)
Mammalia VPS37D 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves VPS37D 34 35
  • 71.22 (n)
lizard
(Anolis carolinensis)
Reptilia VPS37D 35
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia vps37d 34
  • 55.49 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC101884856 34
  • 49.73 (n)
VPS37D 35
  • 33 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG1115 35
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea vps-37 35
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10674 35
  • 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)

Paralogs for VPS37D Gene

Paralogs for VPS37D Gene

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

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

Variants for VPS37D Gene

Sequence variations from dbSNP and Humsavar for VPS37D Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000079310 -- 73,671,877(+) ACACC(A/G)TGGCC utr-variant-3-prime
rs1000293803 -- 73,666,573(+) ACAGG(C/T)GCCCA intron-variant, upstream-variant-2KB
rs1000560888 -- 73,672,242(+) ACCGC(C/T)GCTGC downstream-variant-500B
rs1000594615 -- 73,667,509(+) CAGGA(A/G)CCCTC intron-variant, upstream-variant-2KB
rs1000623786 -- 73,668,311(+) GGCGC(C/T)TGTGC intron-variant

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)

Relevant External Links for VPS37D Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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
  • fanconi schlesinger syndrome
- 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.

Relevant External Links for VPS37D

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 M.D. … Sundquist W.I. (J. Biol. Chem. 2004) 2 3 4 64
  2. The UBAP1 subunit of ESCRT-I interacts with ubiquitin via a SOUBA domain. (PMID: 22405001) Agromayor M. … Williams R.L. (Structure 2012) 3 4 64
  3. Identification of human MVB12 proteins as ESCRT-I subunits that function in HIV budding. (PMID: 18005716) Morita E. … Sundquist W.I. (Cell Host Microbe 2007) 3 4 64
  4. Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption. (PMID: 25288136) . … Chasman D.I. (Mol. Psychiatry 2015) 3 64
  5. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 3 64

Products for VPS37D Gene

Sources for VPS37D Gene

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