Vacuolar Protein Sorting 4 Homolog A

Alternative Names

  • VPS4A
  • Vacuolar Protein Sorting 4, Yeast, Homolog of, A
  • VPS4
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OMIM Number

609982

NCBI Gene ID

27183

Uniprot ID

Q9UN37

Length

15,590 bases

No. of Exons

11

No. of isoforms

1

Protein Name

Vacuolar protein sorting-associated protein 4A

Molecular Mass

48898 Da

Amino Acid Count

437

Genomic Location

chr16:69,311,349-69,326,938

Gene Map Locus
16q22.1

Description

The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein. In humans, two paralogs of the yeast protein have been identified. The former share a high degree of aa sequence similarity with each other, and also with yeast Vps4 and mouse Skd1 proteins. The mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be really an yeast Vps4 ortholog. Functional studies indicate that both human paralogs associate with the endosomal compartments, and are involved in intracellular protein trafficking, similar to Vps4 protein in yeast. The gene encoding this paralog has been mapped to chromosome 16; the gene for the other resides on chromosome 18. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_013245.2:c.1213-705G>AUnited Arab EmiratesNC_000016.10:g.69323503G>ANM_013245.2:c.1213-705G>A; NP_037377.1:p.?16958751
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