Adaptor-Related Protein Complex 1, Sigma-3 Subunit

Alternative Names

  • AP1S3
  • Adaptor Protein Complex 1, Sigma-1C Subunit
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OMIM Number

615781

NCBI Gene ID

130340

Uniprot ID

Q96PC3

Length

82,257 bases

No. of Exons

6

No. of isoforms

4

Protein Name

AP-1 complex subunit sigma-3

Molecular Mass

18280 Da

Amino Acid Count

154

Genomic Location

chr2:223,755,325-223,837,581

Gene Map Locus
2q36.1

Description

This gene encodes a member of the adaptor-related protein complex 1, sigma subunit genes. The encoded protein is a component of adaptor protein complex 1 (AP-1), one of the AP complexes involved in claathrin-mediated vesicular transport from the Golgi or endosomes. Disruption of the pathway for display of HIV-1 antigens, which prevents recognition of the virus by cytotoxic T cells, has been shown to involve the AP-1 complex. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001039569.2:c.11T>GLebanonNC_000002.12:g.223777862A>CRisk factorUncertain SignificanceFamilial Mediterranean FeverNG_034017.1:g.64741T>G; NM_001039569.2:c.11T>G; NP_001034658.1:p.Phe4Cys116107386160376
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