AP1S2

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Adaptor-related protein complex 1, sigma 2 subunit
Identifiers
Symbols AP1S2 ; MGC:1902; MRX59; MRXS21; MRXSF; SIGMA1B
External IDs OMIM300629 HomoloGene2908 GeneCards: AP1S2 Gene
Orthologs
Species Human Mouse
Entrez 8905 108012
Ensembl ENSG00000182287 ENSMUSG00000031367
UniProt P56377 Q8BW87
RefSeq (mRNA) NM_001272071 NM_026887
RefSeq (protein) NP_001259000 NP_081163
Location (UCSC) Chr X:
15.84 – 15.87 Mb
Chr X:
163.91 – 163.93 Mb
PubMed search [1] [2]

AP-1 complex subunit sigma-2 is a protein that in humans is encoded by the AP1S2 gene.[1][2][3]

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.[3]

References[edit]

  1. ^ Takatsu H, Sakurai M, Shin HW, Murakami K, Nakayama K (Oct 1998). "Identification and characterization of novel clathrin adaptor-related proteins". J Biol Chem 273 (38): 24693–700. doi:10.1074/jbc.273.38.24693. PMID 9733768. 
  2. ^ Tarpey PS, Stevens C, Teague J, Edkins S, O'Meara S, Avis T, Barthorpe S, Buck G, Butler A, Cole J, Dicks E, Gray K, Halliday K, Harrison R, Hills K, Hinton J, Jones D, Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R, Small A, Tofts C, Varian J, West S, Widaa S, Yates A, Catford R, Butler J, Mallya U, Moon J, Luo Y, Dorkins H, Thompson D, Easton DF, Wooster R, Bobrow M, Carpenter N, Simensen RJ, Schwartz CE, Stevenson RE, Turner G, Partington M, Gecz J, Stratton MR, Futreal PA, Raymond FL (Dec 2006). "Mutations in the Gene Encoding the Sigma 2 Subunit of the Adaptor Protein 1 Complex, AP1S2, Cause X-Linked Mental Retardation". Am J Hum Genet 79 (6): 1119–24. doi:10.1086/510137. PMC 1698718. PMID 17186471. 
  3. ^ a b "Entrez Gene: AP1S2 adaptor-related protein complex 1, sigma 2 subunit". 

Further reading[edit]