AP1S1

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AP1S1
PDB 1w63 EBI.jpg
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases AP1S1, AP19, CLAPS1, EKV3, MEDNIK, SIGMA1A, WUGSC:H_DJ0747G18.2, adaptor related protein complex 1 sigma 1 subunit
External IDs MGI: 1098244 HomoloGene: 20342 GeneCards: AP1S1
Gene location (Human)
Chromosome 7 (human)
Chr. Chromosome 7 (human)[1]
Chromosome 7 (human)
Genomic location for AP1S1
Genomic location for AP1S1
Band 7q22.1 Start 101,154,397 bp[1]
End 101,161,596 bp[1]
RNA expression pattern
PBB GE AP1S1 205195 at fs.png

PBB GE AP1S1 205196 s at fs.png

PBB GE AP1S1 209635 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_057089
NM_001283

NM_007457

RefSeq (protein)

NP_001274

NP_031483

Location (UCSC) Chr 7: 101.15 – 101.16 Mb Chr 7: 137.03 – 137.05 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

AP-1 complex subunit sigma-1A is a protein that in humans is encoded by the AP1S1 gene.[5][6][7]

Function[edit]

The protein encoded by this gene is part of the clathrin coat assembly complex which links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. This protein, as well as beta-prime-adaptin, gamma-adaptin, and the medium (mu) chain AP47, form the AP-1 assembly protein complex located at the Golgi vesicle. Two alternatively spliced transcript variants of this gene, which encode distinct isoforms, have been reported.[7]

A mutation in the AP1S1 causes the rare familial MEDNIK syndrome described in 2008.[8]

Interactions[edit]

AP1S1 has been shown to interact with AP1G1[6][9][10] and RAB10.[11]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000106367 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000004849 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ Peyrard M, Parveneh S, Lagercrantz S, Ekman M, Fransson I, Sahlén S, Dumanski JP (Jun 1998). "Cloning, expression pattern, and chromosomal assignment to 16q23 of the human gamma-adaptin gene (ADTG)". Genomics. 50 (2): 275–80. PMID 9653655. doi:10.1006/geno.1998.5289. 
  6. ^ a b 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. 
  7. ^ a b "Entrez Gene: AP1S1 adaptor-related protein complex 1, sigma 1 subunit". 
  8. ^ Montpetit A, Côté S, Brustein E, Drouin CA, Lapointe L, Boudreau M, Meloche C, Drouin R, Hudson TJ, Drapeau P, Cossette P (Dec 2008). Van Heyningen V, ed. "Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord". PLoS Genetics. 4 (12): e1000296. PMC 2585812Freely accessible. PMID 19057675. doi:10.1371/journal.pgen.1000296. 
  9. ^ Fölsch H, Ohno H, Bonifacino JS, Mellman I (Oct 1999). "A novel clathrin adaptor complex mediates basolateral targeting in polarized epithelial cells". Cell. 99 (2): 189–98. PMID 10535737. doi:10.1016/S0092-8674(00)81650-5. 
  10. ^ Page LJ, Robinson MS (Nov 1995). "Targeting signals and subunit interactions in coated vesicle adaptor complexes". The Journal of Cell Biology. 131 (3): 619–30. PMC 2120623Freely accessible. PMID 7593184. doi:10.1083/jcb.131.3.619. 
  11. ^ Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1): 89. PMC 1847948Freely accessible. PMID 17353931. doi:10.1038/msb4100134. 

Further reading[edit]

External links[edit]