This gene belongs to the VPS37 family, and encodes a component of the ESCRT-I (endosomal sorting complex required for transport I) protein complex, required for the sorting of ubiquitinated transmembrane proteins into internal vesicles of multivesicular bodies. Expression of this gene is downregulated in hepatocellular carcinoma, and mutations in this gene are associated with a... See more...

Aliases for VPS37A Gene

Aliases for VPS37A Gene

  • VPS37A Subunit Of ESCRT-I 2 3 5
  • Vacuolar Protein Sorting-Associated Protein 37A 3 4
  • Hepatocellular Carcinoma-Related Protein 1 3 4
  • Polyglutamine Binding Protein 2 2 3
  • ESCRT-I Complex Subunit VPS37A 3 4
  • HCRP1 3 4
  • Vacuolar Protein Sorting 37 Homolog A (S. Cerevisiae) 2
  • Hepatocellular Carcinoma Related Protein 1 2
  • Vacuolar Protein Sorting 37 Homolog A 3
  • Vacuolar Protein Sorting 37A (Yeast) 2
  • VPS37A, ESCRT-I Subunit 3
  • HVps37A 4
  • SPG53 3
  • PQBP2 3

External Ids for VPS37A Gene

Previous HGNC Symbols for VPS37A Gene

  • PQBP2

Previous GeneCards Identifiers for VPS37A Gene

  • GC08P017149
  • GC08P015649

Summaries for VPS37A Gene

Entrez Gene Summary for VPS37A Gene

  • This gene belongs to the VPS37 family, and encodes a component of the ESCRT-I (endosomal sorting complex required for transport I) protein complex, required for the sorting of ubiquitinated transmembrane proteins into internal vesicles of multivesicular bodies. Expression of this gene is downregulated in hepatocellular carcinoma, and mutations in this gene are associated with autosomal recessive spastic paraplegia-53. A related pseudogene has been identified on chromosome 5. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

CIViC Summary for VPS37A Gene

GeneCards Summary for VPS37A Gene

VPS37A (VPS37A Subunit Of ESCRT-I) is a Protein Coding gene. Diseases associated with VPS37A include Spastic Paraplegia 53, Autosomal Recessive and Paraplegia. Among its related pathways are Budding and maturation of HIV virion and HIV Life Cycle. An important paralog of this gene is VPS37D.

UniProtKB/Swiss-Prot Summary for VPS37A 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 VPS37A Gene

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for VPS37A Gene

Genomics for VPS37A Gene

GeneHancer (GH) Regulatory Elements for VPS37A Gene

Promoters and enhancers for VPS37A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J017245 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.3 309 4 ZNF217 EP300 SIN3A NRF1 TCF12 POLR2G SP1 NCOR1 PHF8 ZFX CNOT7 VPS37A lnc-MTMR7-2 ZDHHC2 MF281430-072
GH08J017224 Enhancer 0.8 Ensembl ENCODE 13.1 -20.8 -20791 3 JUND FOS TRIM28 ZNF510 FOSL2 CEBPB JUN EP300 GATA2 BHLHE40 lnc-CNOT7-2 ZDHHC2 CNOT7 VPS37A lnc-ZDHHC2-2 RF00017-6856 lnc-MTMR7-3
GH08J017320 Enhancer 1.1 Ensembl ENCODE 5.6 +74.5 74509 2 EP300 FOXK2 TCF12 POLR2G NCOR1 ZIC2 KDM6A TCF7 FOXA1 TGIF2 VPS37A ZDHHC2 MTMR7 lnc-CNOT7-4 LOC102724838 RF00017-6857
GH08J017223 Enhancer 0.3 Ensembl 18.3 -23.5 -23491 0.4 MNT lnc-ZDHHC2-2 VPS37A CNOT7 ZDHHC2 RF00017-6856 lnc-CNOT7-3
GH08J017314 Enhancer 0.5 Ensembl 6.2 +68.1 68109 1.6 FOS GATA2 MEIS2 JUN POLR2A STAT3 VPS37A MTMR7 lnc-CNOT7-4 LOC102724838 RF00017-6857
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around VPS37A on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for VPS37A

Top Transcription factor binding sites by QIAGEN in the VPS37A gene promoter:
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • POU2F2B
  • POU2F2C
  • RP58

Genomic Locations for VPS37A Gene

Genomic Locations for VPS37A Gene
chr8:17,246,892-17,302,427
(GRCh38/hg38)
Size:
55,536 bases
Orientation:
Plus strand
chr8:17,104,080-17,159,936
(GRCh37/hg19)
Size:
55,857 bases
Orientation:
Plus strand

Genomic View for VPS37A Gene

Genes around VPS37A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VPS37A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VPS37A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VPS37A Gene

Proteins for VPS37A Gene

  • Protein details for VPS37A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NEZ2-VP37A_HUMAN
    Recommended name:
    Vacuolar protein sorting-associated protein 37A
    Protein Accession:
    Q8NEZ2
    Secondary Accessions:
    • Q336D5
    • Q6NW27
    • Q8N3D7
    • Q8TBL7
    • Q96DL9

    Protein attributes for VPS37A Gene

    Size:
    397 amino acids
    Molecular mass:
    44314 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, VPS28 and HGS. Component of an ESCRT-I complex (endosomal sorting complex required for transport I) which consists of TSG101, VPS28, VPS37A and UBAP1 in a 1:1:1:1 stoichiometry.
    SequenceCaution:
    • Sequence=AAH22363.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for VPS37A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VPS37A Gene

Post-translational modifications for VPS37A Gene

  • Ubiquitination at Lys29
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for VPS37A Gene

Domains & Families for VPS37A Gene

Gene Families for VPS37A Gene

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

Protein Domains for VPS37A Gene

Suggested Antigen Peptide Sequences for VPS37A Gene

GenScript: Design optimal peptide antigens:
  • Hepatocellular carcinoma-related protein 1 (VP37A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NEZ2

UniProtKB/Swiss-Prot:

VP37A_HUMAN :
  • Belongs to the VPS37 family.
Family:
  • Belongs to the VPS37 family.
genes like me logo Genes that share domains with VPS37A: view

Function for VPS37A Gene

Molecular function for VPS37A 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 VPS37A Gene

Gene Ontology (GO) - Molecular Function for VPS37A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with VPS37A: view
genes like me logo Genes that share phenotypes with VPS37A: view

Human Phenotype Ontology for VPS37A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for VPS37A Gene

Localization for VPS37A Gene

Subcellular locations from UniProtKB/Swiss-Prot for VPS37A Gene

Late endosome membrane; Peripheral membrane protein. Nucleus.

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 VPS37A gene
Compartment Confidence
nucleus 5
endosome 5
cytosol 5
cytoskeleton 4
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Cytosol (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for VPS37A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000813 ESCRT I complex TAS 20588296
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005768 endosome IEA --
GO:0005813 centrosome IDA --
genes like me logo Genes that share ontologies with VPS37A: view

Pathways & Interactions for VPS37A Gene

genes like me logo Genes that share pathways with VPS37A: view

Pathways by source for VPS37A Gene

Gene Ontology (GO) - Biological Process for VPS37A 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 VPS37A: view

No data available for SIGNOR curated interactions for VPS37A Gene

Drugs & Compounds for VPS37A Gene

No Compound Related Data Available

Transcripts for VPS37A Gene

mRNA/cDNA for VPS37A Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for VPS37A Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g · 1h · 1i ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c · 8d · 8e ^ 9a · 9b ^
SP1: - - - - -
SP2: - - - - -
SP3: - - - - - -
SP4:
SP5:
SP6: - - - -
SP7: - - - - -
SP8: - - -
SP9: - - - - - -
SP10: - - - -
SP11:
SP12: - - - - - - - - - - -
SP13: - - -

ExUns: 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b · 16c · 16d
SP1: - -
SP2: - -
SP3: - -
SP4: - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: -
SP12:
SP13:

Relevant External Links for VPS37A Gene

GeneLoc Exon Structure for
VPS37A

Expression for VPS37A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for VPS37A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for VPS37A Gene

This gene is overexpressed in Bone (28.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for VPS37A Gene



Protein tissue co-expression partners for VPS37A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for VPS37A

SOURCE GeneReport for Unigene cluster for VPS37A Gene:

Hs.343873

mRNA Expression by UniProt/SwissProt for VPS37A Gene:

Q8NEZ2-VP37A_HUMAN
Tissue specificity: Widely expressed. Examined tissues include heart, brain, placenta, liver, skeletal muscle, kidney and pancreas. More abundant in liver. Strongly decreased or undetected in hepatomas.

Evidence on tissue expression from TISSUES for VPS37A Gene

  • Nervous system(4.7)
  • Liver(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for VPS37A Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeleton
Regions:
Head and neck:
  • brain
  • head
Pelvis:
  • pelvis
Limb:
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with VPS37A: view

No data available for mRNA differential expression in normal tissues for VPS37A Gene

Orthologs for VPS37A Gene

This gene was present in the common ancestor of animals.

Orthologs for VPS37A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia VPS37A 31 30
  • 99.66 (n)
OneToOne
cow
(Bos Taurus)
Mammalia VPS37A 31 30
  • 93.45 (n)
OneToOne
dog
(Canis familiaris)
Mammalia VPS37A 31 30
  • 91.92 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Vps37a 17 31 30
  • 89.08 (n)
rat
(Rattus norvegicus)
Mammalia Vps37a 30
  • 88.92 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia VPS37A 31
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia VPS37A 31
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves VPS37A 31 30
  • 77.58 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia VPS37A 31
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia vps37a 30
  • 69.37 (n)
Str.6793 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.29802 30
zebrafish
(Danio rerio)
Actinopterygii vps37a 31 30
  • 64.25 (n)
OneToOne
wufb08f03 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13062 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002538 30
  • 42.21 (n)
fruit fly
(Drosophila melanogaster)
Insecta mod(r) 30
  • 38.96 (n)
CG1115 31
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea vps-37 31
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10674 31
  • 20 (a)
OneToMany
Species where no ortholog for VPS37A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 VPS37A Gene

ENSEMBL:
Gene Tree for VPS37A (if available)
TreeFam:
Gene Tree for VPS37A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for VPS37A: view image

Paralogs for VPS37A Gene

Paralogs for VPS37A Gene

(5) SIMAP similar genes for VPS37A Gene using alignment to 6 proteins:

  • VP37A_HUMAN
  • E5RG91_HUMAN
  • E5RHB8_HUMAN
  • E5RJ10_HUMAN
  • E5RJX6_HUMAN
  • H0YBN0_HUMAN

Pseudogenes.org Pseudogenes for VPS37A Gene

genes like me logo Genes that share paralogs with VPS37A: view

Variants for VPS37A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for VPS37A Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
640364 Uncertain Significance: Spastic paraplegia 53, autosomal recessive 17,280,449(+) A/G INTRON_VARIANT
646254 Uncertain Significance: Spastic paraplegia 53, autosomal recessive 17,274,737(+) T/C MISSENSE_VARIANT
658146 Uncertain Significance: Spastic paraplegia 53, autosomal recessive 17,268,901(+) G/A MISSENSE_VARIANT
663795 Uncertain Significance: Spastic paraplegia 53, autosomal recessive 17,286,395(+) G/T MISSENSE_VARIANT
664639 Uncertain Significance: Spastic paraplegia 53, autosomal recessive 17,284,556(+) C/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for VPS37A Gene

Structural Variations from Database of Genomic Variants (DGV) for VPS37A Gene

Variant ID Type Subtype PubMed ID
nsv518761 CNV loss 19592680
nsv610675 CNV loss 21841781
nsv831244 CNV gain 17160897
nsv831245 CNV gain 17160897

Variation tolerance for VPS37A Gene

Residual Variation Intolerance Score: 58.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.51; 29.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for VPS37A Gene

Human Gene Mutation Database (HGMD)
VPS37A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
VPS37A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VPS37A Gene

Disorders for VPS37A Gene

MalaCards: The human disease database

(16) MalaCards diseases for VPS37A Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 53, autosomal recessive
  • spg53
paraplegia
  • paraplegia, lower
spastic paraparesis
transverse myelitis
  • myelitis transverse
myelitis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

VP37A_HUMAN
  • Spastic paraplegia 53, autosomal recessive (SPG53) [MIM:614898]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. SPG53 is characterized by pronounced early onset spastic paraparesis of upper and lower limbs, mild intellectual disability, kyphosis, pectus carinatum and hypertrichosis. {ECO:0000269 PubMed:22717650}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for VPS37A

genes like me logo Genes that share disorders with VPS37A: view

No data available for Genatlas for VPS37A Gene

Publications for VPS37A Gene

  1. A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis. (PMID: 22717650) Zivony-Elboum Y … Falik-Zaccai TC (Journal of medical genetics 2012) 2 3 4 54
  2. The growth-regulatory protein HCRP1/hVps37A is a subunit of mammalian ESCRT-I and mediates receptor down-regulation. (PMID: 15240819) Bache KG … Stenmark H (Molecular biology of the cell 2004) 2 3 4 54
  3. 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
  4. UBAP1 is a component of an endosome-specific ESCRT-I complex that is essential for MVB sorting. (PMID: 21757351) Stefani F … Woodman P (Current biology : CB 2011) 3 4 54
  5. Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness. (PMID: 17903302) Levy D … Mitchell GF (BMC medical genetics 2007) 3 41 54

Products for VPS37A Gene

Sources for VPS37A Gene