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Protein-coding gene in humans
AP1S2 Identifiers Aliases AP1S2 External IDs OMIM : 300629 ; MGI : 1889383 ; HomoloGene : 2908 ; GeneCards : AP1S2 ; OMA :AP1S2 - orthologs RNA expression patternBgee 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
Wikidata
AP-1 complex subunit sigma-2 is a protein that in humans is encoded by the AP1S2 gene .[ 5] [ 6] [ 7]
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]
Mutations of the AP1S2 gene cause the Pettigrew syndrome ,[ 8] mental retardation and additional highly variable features, including choreoathetosis , hydrocephalus , Dandy–Walker malformation , seizures, and iron or calcium deposition in the brain.[ 9]
^ a b c GRCh38: Ensembl release 89: ENSG00000182287 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031367 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Takatsu H, Sakurai M, Shin HW, Murakami K, Nakayama K (September 1998). "Identification and characterization of novel clathrin adaptor-related proteins" . The Journal of Biological Chemistry . 273 (38): 24693–700. doi :10.1074/jbc.273.38.24693 PMID 9733768 . ^ Tarpey PS, Stevens C, Teague J, Edkins S, O'Meara S, Avis T, et al. (December 2006). "Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation" . American Journal of Human Genetics . 79 (6): 1119–24. doi :10.1086/510137 . PMC 1698718 PMID 17186471 . ^ a b "Entrez Gene: AP1S2 adaptor-related protein complex 1, sigma 2 subunit" .^ Huo L, Teng Z, Wang H, Liu X (March 2019). "A novel splice site mutation in AP1S2 gene for X-linked mental retardation in a Chinese pedigree and literature review" . Brain and Behavior . 9 (3): e01221. doi :10.1002/brb3.1221 . PMC 6422709 PMID 30714330 . ^ "Pettigrew syndrome" . Universal Protein Resource (UniProt) .
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