VPS37A
Vacuolar protein sorting-associated protein 37A
Also known as: FLJ32642, HCRP1, PQBP2, SPG53, VP37A_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8NEZ2
- Gene
- VPS37A
- Ensembl
- ENSG00000155975
- Chromosome
- 8
- Canonical length
- 397 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Vesicles,Centrosome,Cytosol,Acrosome,Equatorial segment,Perinuclear theca,Flagellar centriole,Mid piece,Principal piece,End piece
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
397 residues, UniProt reviewed canonical sequence.
>Q8NEZ2|VPS37A
1 MSWLFPLTKS ASSSAAGSPG GLTSLQQQKQ RLIESLRNSH SSIAEIQKDV EYRLPFTINN
61 LTININILLP PQFPQEKPVI SVYPPIRHHL MDKQGVYVTS PLVNNFTMHS DLGKIIQSLL
121 DEFWKNPPVL APTSTAFPYL YSNPSGMSPY ASQGFPFLPP YPPQEANRSI TSLSVADTVS
181 SSTTSHTTAK PAAPSFGVLS NLPLPIPTVD ASIPTSQNGF GYKMPDVPDA FPELSELSVS
241 QLTDMNEQEE VLLEQFLTLP QLKQIITDKD DLVKSIEELA RKNLLLEPSL EAKRQTVLDK
301 YELLTQMKST FEKKMQRQHE LSESCSASAL QARLKVAAHE AEEESDNIAE DFLEGKMEID
361 DFLSSFMEKR TICHCRRAKE EKLQQAIAMH SQFHAPLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against VPS37A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.47
- Highest tissue expression
- 51 nTPM
Expression across tissuesHPA
Tissue
- retina: 51 nTPM
- skeletal muscle: 39 nTPM
- heart muscle: 34 nTPM
- parathyroid gland: 32 nTPM
- testis: 30 nTPM
- tongue: 29 nTPM
Single-cell type
- epicardial cells: 162 nCPM
- syncytiotrophoblasts: 158 nCPM
- late primary spermatocytes: 149 nCPM
- esophageal apical cells: 120 nCPM
- rod photoreceptor cells: 117 nCPM
- oocytes: 106 nCPM
Immune cell
- basophil: 34 nTPM
- NK-cell: 24 nTPM
- neutrophil: 18 nTPM
- classical monocyte: 17 nTPM
- MAIT T-cell: 17 nTPM
- eosinophil: 17 nTPM
Brain region
- cerebellum: 76 nTPM
- white matter: 54 nTPM
- basal ganglia: 48 nTPM
- cerebral cortex: 46 nTPM
- hypothalamus: 45 nTPM
- thalamus: 44 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about VPS37A.
Disease | AllUniProt
Conditions VPS37A is implicated in, by any mechanism.
- Spastic paraplegia 53, autosomal recessive (SPG53) MIM:614898
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 260 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hereditary spastic paraplegia 53
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.72
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.88
- DepMap mean gene effect
- -0.58
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- macroautophagy
- membrane fission
- multivesicular body assembly
- protein targeting to membrane
- protein targeting to vacuole
- protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway
- ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway
- viral budding via host ESCRT complex
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of VPS37A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads VPS37A as an antibody target. Whether an autoantibody or antibody against VPS37A could matter depends on whether native VPS37A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
VPS37A is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label VPS37A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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