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AP1S2

From Wikipedia, the free encyclopedia

AP1S2
Identifiers
AliasesAP1S2, 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 IDsOMIM: 300629; MGI: 1889383; HomoloGene: 2908; GeneCards: AP1S2; OMA:AP1S2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001272071
NM_003916
NM_001368994
NM_001369007
NM_001369008

NM_001290378
NM_001290379
NM_026887

RefSeq (protein)

NP_001277307
NP_001277308
NP_081163

Location (UCSC)Chr X: 15.83 – 15.85 MbChr X: 162.69 – 162.72 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

Function

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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 polyadeniylation signals exist for this gene.[7]

Pathology

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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]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000182287Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031367Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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.
  7. ^ a b "Entrez Gene: AP1S2 adaptor-related protein complex 1, sigma 2 subunit".
  8. ^ 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.
  9. ^ "Pettigrew syndrome". Universal Protein Resource (UniProt).
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Further reading

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