VPS37A

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]

Description

VPS37A subunit of ESCRT-I

Tissue specificity

Low tissue specificity

Subcell location

Vesicles, Centrosome, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

8 (17246931 - 17302427)

Ensembl ID

ENSG00000155975  (ver. 103.38)

Orthologs

Mouse Vps37a: ENSMUSG00000031600

UniProt

Q8NEZ2

neXtProt

NX_Q8NEZ2

Human splice variants
Mouse splice variants

Protein structure