• Gene id: 137492

Gene Summary

• Gene Symbol: VPS37A   Gene   UCSC   Ensembl
• Aliases: HCRP1, PQBP2, SPG53
• Gene name: VPS37A subunit of ESCRT-I
• Alternate names: vacuolar protein sorting-associated protein 37A, ESCRT-I complex subunit VPS37A, VPS37A, ESCRT-I subunit, hepatocellular carcinoma-related protein 1, polyglutamine binding protein 2, vacuolar protein sorting 37 homolog A,
• Gene location: 8p22 (17246891: 17333454)     Exons: 15     NC_000008.11
• Gene summary(Entrez): 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 b
• OMIM: 609927

Protein Summary

• Protein general information: Q8NEZ2  
  • Name: Vacuolar protein sorting associated protein 37A (hVps37A) (ESCRT I complex subunit VPS37A) (Hepatocellular carcinoma related protein 1)
  • Length: 397  
  • Mass: 44314
  • 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. {ECO
• Sequence:

  MSWLFPLTKSASSSAAGSPGGLTSLQQQKQRLIESLRNSHSSIAEIQKDVEYRLPFTINNLTININILLPPQFPQ
  EKPVISVYPPIRHHLMDKQGVYVTSPLVNNFTMHSDLGKIIQSLLDEFWKNPPVLAPTSTAFPYLYSNPSGMSPY
  ASQGFPFLPPYPPQEANRSITSLSVADTVSSSTTSHTTAKPAAPSFGVLSNLPLPIPTVDASIPTSQNGFGYKMP
  DVPDAFPELSELSVSQLTDMNEQEEVLLEQFLTLPQLKQIITDKDDLVKSIEELARKNLLLEPSLEAKRQTVLDK
  YELLTQMKSTFEKKMQRQHELSESCSASALQARLKVAAHEAEEESDNIAEDFLEGKMEIDDFLSSFMEKRTICHC
  RRAKEEKLQQAIAMHSQFHAPL

• Structural information:
  • Protein Domains: (308..39-)
    (/note="VPS37-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00646"-)
  • Interpro: IPR037202  IPR029012  IPR009851  IPR016135  IPR037859  
  • Prosite: PS51314
  • STRING: ENSP00000318629
• Other Databases: GeneCards:  VPS37A  Malacards:  VPS37A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000813	ESCRT I complex	TAS	cellular component
GO:0036258	multivesicular body assembly	TAS	biological process
GO:0016236	macroautophagy	TAS	biological process
GO:0039702	viral budding via host ESCRT complex	TAS	biological process
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0006623	protein targeting to vacuole	IBA	biological process
GO:0000813	ESCRT I complex	IBA	cellular component
GO:0043162	ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IBA	biological process
GO:0006612	protein targeting to membrane	IBA	biological process
GO:0000813	ESCRT I complex	IDA	cellular component
GO:0043162	ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IMP	biological process
GO:0000813	ESCRT I complex	IEA	cellular component
GO:0032509	endosome transport via multivesicular body sorting pathway	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0016197	endosomal transport	TAS	biological process
GO:0019058	viral life cycle	TAS	biological process
GO:0075733	intracellular transport of virus	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031902	late endosome membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0043657	host cell	IEA	cellular component
GO:0043162	ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IC	biological process
GO:0000813	ESCRT I complex	IDA	cellular component
GO:0000813	ESCRT I complex	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Hereditary spastic paraplegia	KEGG:H00266
Hereditary spastic paraplegia	KEGG:H00266
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)