AP1S2

AP-1 complex subunit sigma-2 is a protein that in humans is encoded by the AP1S2 gene.^[5][6][7]

AP1S2
Identifiers
Aliases	AP1S2, MGC:1902, MRX59, MRXS21, MRXS5, MRXSF, PGS, SIGMA1B, DC22, adaptor related protein complex 1 sigma 2 subunit, adaptor related protein complex 1 subunit sigma 2
External IDs	OMIM: 300629; MGI: 1889383; HomoloGene: 2908; GeneCards: AP1S2; OMA:AP1S2 - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xp22.2 Start 15,825,806 bp[1] End 15,854,931 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X|X F5 Start 162,692,013 bp[2] End 162,716,662 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in corpus epididymis tail of epididymis monocyte retinal pigment epithelium Skeletal muscle tissue of rectus abdominis right ventricle biceps brachii Pons muscle of thigh ganglionic eminence Top expressed in substantia nigra paraventricular nucleus of hypothalamus arcuate nucleus mammillary body efferent ductule lateral hypothalamus supraoptic nucleus medial vestibular nucleus median eminence pontine nuclei More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component cytosol Golgi apparatus trans-Golgi network membrane intracellular membrane-bounded organelle membrane Golgi membrane lysosomal membrane AP-type membrane coat adaptor complex membrane coat clathrin-coated pit cytoplasmic vesicle membrane cytoplasmic vesicle Biological process antigen processing and presentation of exogenous peptide antigen via MHC class II mitigation of host defenses by virus protein transport intracellular protein transport vesicle-mediated transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8905 108012 Ensembl ENSG00000182287 ENSMUSG00000031367 UniProt P56377 Q549M9 Q9DB50 RefSeq (mRNA) NM_001272071 NM_003916 NM_001368994 NM_001369007 NM_001369008 NM_001290378 NM_001290379 NM_026887 RefSeq (protein) NP_001259000 NP_003907 NP_001355923 NP_001355936 NP_001355937 NP_003907.3 NP_001277307 NP_001277308 NP_081163 Location (UCSC) Chr X: 15.83 – 15.85 Mb Chr X: 162.69 – 162.72 Mb PubMed search [3] [4]
Wikidata
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Function

Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as the small subunit of this complex and is a member of the adaptin protein family. Transcript variants utilizing alternative polyadenylation signals exist for this gene.^[7]

Pathology

Mutations of the AP1S2 gene cause the Pettigrew syndrome,^[8] which is characterized by mental retardation and additional highly variable features, including choreoathetosis, hydrocephalus, Dandy–Walker malformation, seizures, and iron or calcium deposition in the brain.^[9]