Phosphofurin Acidic Cluster Sorting Protein 1

Alternative Names

  • PACS1
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OMIM Number

607492

NCBI Gene ID

55690

Uniprot ID

Q6VY07

Length

174,473 bases

No. of Exons

27

No. of isoforms

2

Protein Name

Phosphofurin acidic cluster sorting protein 1

Molecular Mass

104898 Da

Amino Acid Count

963

Genomic Location

chr11:66,070,271-66,244,743

Gene Map Locus
11q13.1-q13.2

Description

This gene encodes a protein with a putative role in the localization of trans-Golgi network (TGN) membrane proteins. Mouse and rat homologs have been identified and studies of the homologous rat protein indicate a role in directing TGN localization of furin by binding to the protease's phosphorylated cytosolic domain. In addition, the human protein plays a role in HIV-1 Nef-mediated downregulation of cell surface MHC-I molecules to the TGN, thereby enabling HIV-1 to escape immune surveillance. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_018026.3:c.607C>TUnited Arab EmiratesNC_000011.10:g.66211206C>TPathogenicPathogenicSchuurs-Hoeijmakers SyndromeNG_033900.1:g.145854C>T; NM_018026.3:c.607C>T; NP_060496.2:p.Arg203Trp39812300939581
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