AP1S1

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Adaptor-related protein complex 1, sigma 1 subunit
PDB 1w63 EBI.jpg
Rendering of AP1S1 from PDB 1w63
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols AP1S1 ; AP19; CLAPS1; EKV3; MEDNIK; SIGMA1A; WUGSC:H_DJ0747G18.2
External IDs OMIM603531 MGI1098244 HomoloGene20342 GeneCards: AP1S1 Gene
RNA expression pattern
PBB GE AP1S1 209635 at tn.png
PBB GE AP1S1 205195 at tn.png
PBB GE AP1S1 205196 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1174 11769
Ensembl ENSG00000106367 ENSMUSG00000004849
UniProt P61966 P61967
RefSeq (mRNA) NM_001283 NM_007457
RefSeq (protein) NP_001274 NP_031483
Location (UCSC) Chr 7:
100.8 – 100.8 Mb
Chr 5:
137.03 – 137.05 Mb
PubMed search [1] [2]

AP-1 complex subunit sigma-1A is a protein that in humans is encoded by the AP1S1 gene.[1][2][3]

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.[3]

A mutation in the AP1S1 causes the rare familial MEDNIK syndrome described in 2008.[4]

Interactions[edit]

AP1S1 has been shown to interact with AP1G1[2][5][6] and RAB10.[7]

References[edit]

  1. ^ Peyrard M, Parveneh S, Lagercrantz S, Ekman M, Fransson I, Sahlén S et al. (Jun 1998). "Cloning, expression pattern, and chromosomal assignment to 16q23 of the human gamma-adaptin gene (ADTG)". Genomics 50 (2): 275–80. doi:10.1006/geno.1998.5289. PMID 9653655. 
  2. ^ 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. doi:10.1074/jbc.273.38.24693. PMID 9733768. 
  3. ^ a b "Entrez Gene: AP1S1 adaptor-related protein complex 1, sigma 1 subunit". 
  4. ^ Montpetit A, Côté S, Brustein E, Drouin CA, Lapointe L, Boudreau M et al. (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. doi:10.1371/journal.pgen.1000296. PMC 2585812. PMID 19057675. 
  5. ^ 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. doi:10.1016/S0092-8674(00)81650-5. PMID 10535737. 
  6. ^ 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. doi:10.1083/jcb.131.3.619. PMC 2120623. PMID 7593184. 
  7. ^ Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931. 

Further reading[edit]