AP1S1

AP-1 complex subunit sigma-1A is a protein that in humans is encoded by the AP1S1 gene.^[5][6][7]

AP1S1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4P6Z, 1W63
Identifiers
Aliases	AP1S1, AP19, CLAPS1, EKV3, MEDNIK, SIGMA1A, WUGSC:H_DJ0747G18.2, adaptor related protein complex 1 sigma 1 subunit, adaptor related protein complex 1 subunit sigma 1
External IDs	OMIM: 603531; MGI: 1098244; HomoloGene: 20342; GeneCards: AP1S1; OMA:AP1S1 - orthologs
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7q22.1 Start 101,154,456 bp[1] End 101,161,596 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 G2 Start 137,063,847 bp[2] End 137,074,989 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of transverse colon stromal cell of endometrium prefrontal cortex nucleus accumbens right frontal lobe islet of Langerhans caudate nucleus putamen Brodmann area 9 amygdala Top expressed in dentate gyrus of hippocampal formation granule cell entorhinal cortex superior frontal gyrus perirhinal cortex CA3 field primary visual cortex olfactory tubercle yolk sac nucleus accumbens lip More reference expression data BioGPS More reference expression data
Orthologs Species Human Mouse Entrez 1174 11769 Ensembl ENSG00000106367 ENSMUSG00000004849 UniProt P61966 P61967 RefSeq (mRNA) NM_057089 NM_001283 NM_007457 RefSeq (protein) NP_001274 NP_031483 Location (UCSC) Chr 7: 101.15 – 101.16 Mb Chr 5: 137.06 – 137.07 Mb PubMed search [3] [4]
Wikidata
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Function

The protein encoded by this gene is part of the clathrin coat assembly complex which links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. This protein, as well as beta-prime-adaptin, gamma-adaptin, and the medium (mu) chain AP47, form the AP-1 assembly protein complex located at the Golgi vesicle. Two alternatively spliced transcript variants of this gene, which encode distinct isoforms, have been reported.^[7]

A mutation in the AP1S1 causes the rare familial MEDNIK syndrome described in 2008.^[8]

Interactions

AP1S1 has been shown to interact with AP1G1^[6][9][10] and RAB10.^[11]