AP1S2

AP1S2
Identifiers
AliasesAP1S2, MGC:1902, MRX59, MRXS21, MRXS5, MRXSF, PGS, SIGMA1B, DC22, adaptor related protein complex 1 sigma 2 subunit
External IDsMGI: 1889383 HomoloGene: 2908 GeneCards: AP1S2
Orthologs
SpeciesHumanMouse
Entrez

8905

108012

Ensembl

ENSG00000182287

ENSMUSG00000031367

UniProt

P56377
Q549M9

Q9DB50

RefSeq (mRNA)

NM_001272071
NM_003916

NM_001290378
NM_001290379
NM_026887

RefSeq (protein)

NP_001259000
NP_003907
NP_003907.3

NP_001277307
NP_001277308
NP_081163

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

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

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.[5]

References

  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. PMID 9733768. doi:10.1074/jbc.273.38.24693.
  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. PMC 1698718Freely accessible. PMID 17186471. doi:10.1086/510137.
  5. 1 2 "Entrez Gene: AP1S2 adaptor-related protein complex 1, sigma 2 subunit".

Further reading


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