AP1S2

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AP1S2
Identifiers
Aliases AP1S2, MGC:1902, MRX59, MRXS21, MRXS5, MRXSF, PGS, SIGMA1B, DC22, adaptor related protein complex 1 sigma 2 subunit
External IDs MGI: 1889383 HomoloGene: 2908 GeneCards: AP1S2
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001272071
NM_003916

NM_001290378
NM_001290379
NM_026887

RefSeq (protein)

NP_001259000
NP_003907
NP_003907.3

Location (UCSC) Chr X: 15.83 – 15.86 Mb Chr X: 163.91 – 163.93 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

AP-1 complex subunit sigma-2 is a protein that in humans is encoded by the AP1S2 gene.[3][4][5]

Function[edit]

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.[5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ Takatsu H, Sakurai M, Shin HW, Murakami K, Nakayama K (Sep 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. 
  4. ^ 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". American Journal of Human Genetics. 79 (6): 1119–24. doi:10.1086/510137. PMC 1698718Freely accessible. PMID 17186471. 
  5. ^ a b "Entrez Gene: AP1S2 adaptor-related protein complex 1, sigma 2 subunit". 

External links[edit]

Further reading[edit]