AP1S1

Last updated
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, adaptor related protein complex 1 subunit sigma 1
External IDs OMIM: 603531 MGI: 1098244 HomoloGene: 20342 GeneCards: AP1S1
Orthologs
SpeciesHumanMouse
Entrez

1174

11769

Ensembl

ENSG00000106367

ENSMUSG00000004849

UniProt

P61966

P61967

RefSeq (mRNA)

NM_057089
NM_001283

NM_007457

RefSeq (protein)

NP_001274

NP_031483

Location (UCSC) Chr 7: 101.15 – 101.16 Mb Chr 5: 137.06 – 137.07 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]

Contents

Function

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

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

Related Research Articles

Vesicular transport adaptor protein

Vesicular transport adaptor proteins are proteins involved in forming complexes that function in the trafficking of molecules from one subcellular location to another. These complexes concentrate the correct cargo molecules in vesicles that bud or extrude off of one organelle and travel to another location, where the cargo is delivered. While some of the details of how these adaptor proteins achieve their trafficking specificity has been worked out, there is still much to be learned.

AP2M1 Protein-coding gene in the species Homo sapiens

AP-2 complex subunit mu is a protein that in humans is encoded by the AP2M1 gene.

Adaptor-related protein complex 2, alpha 1

AP-2 complex subunit alpha-1 is a protein that in humans is encoded by the AP2A1 gene.

AP1M1 Protein-coding gene in the species Homo sapiens

AP-1 complex subunit mu-1 is a protein that in humans is encoded by the AP1M1 gene.

AP1G1 Protein-coding gene in the species Homo sapiens

AP-1 complex subunit gamma-1 is a protein that in humans is encoded by the AP1G1 gene.

CLTC Protein-coding gene in the species Homo sapiens

Clathrin heavy chain 1 is a protein that in humans is encoded by the CLTC gene.

AP2A2 Protein-coding gene in the species Homo sapiens

AP-2 complex subunit alpha-2 is a protein that in humans is encoded by the AP2A2 gene.

AP1B1 Protein-coding gene in the species Homo sapiens

AP-1 complex subunit beta-1 is a protein that in humans is encoded by the AP1B1 gene.

AP2B1 Protein-coding gene in the species Homo sapiens

AP-2 complex subunit beta is a protein that in humans is encoded by the AP2B1 gene.

AP3D1

AP-3 complex subunit delta-1 is a protein that in humans is encoded by the AP3D1 gene.

AP1M2

AP-1 complex subunit mu-2 is a protein that in humans is encoded by the AP1M2 gene.

AP3B1 Protein-coding gene in the species Homo sapiens

AP-3 complex subunit beta-1 is a protein that in humans is encoded by the AP3B1 gene.

AP1G2 Protein-coding gene in the species Homo sapiens

AP-1 complex subunit gamma-like 2 is a protein that in humans is encoded by the AP1G2 gene.

AP3M1

AP-3 complex subunit mu-1 is a protein that in humans is encoded by the AP3M1 gene.

AP1S2 Protein-coding gene in the species Homo sapiens

AP-1 complex subunit sigma-2 is a protein that in humans is encoded by the AP1S2 gene.

AP3S2

AP-3 complex subunit sigma-2 is a protein that in humans is encoded by the AP3S2 gene.

AP2S1

AP-2 complex subunit sigma is a protein that in humans is encoded by the AP2S1 gene.

AP3S1

AP-3 complex subunit sigma-1 is a protein that in humans is encoded by the AP3S1 gene.

AP4B1

AP-4 complex subunit beta-1 is a protein that in humans is encoded by the AP4B1 gene.

Clathrin adaptor proteins, also known as adaptins, are vesicular transport adaptor proteins associated with clathrin. These proteins are synthesized in the ribosomes, processed in the endoplasmic reticulum and transported from the Golgi apparatus to the trans-Golgi network, and from there via small carrier vesicles to their final destination compartment. The association between adaptins and clathrin are important for vesicular cargo selection and transporting. Clathrin coats contain both clathrin and adaptor complexes that link clathrin to receptors in coated vesicles. Clathrin-associated protein complexes are believed to interact with the cytoplasmic tails of membrane proteins, leading to their selection and concentration. Therefore, adaptor proteins are responsible for the recruitment of cargo molecules into a growing clathrin-coated pits. The two major types of clathrin adaptor complexes are the heterotetrameric vesicular transport adaptor proteins (AP1-5), and the monomeric GGA adaptors. Adaptins are distantly related to the other main type of vesicular transport proteins, the coatomer subunits, sharing between 16% and 26% of their amino acid sequence.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000106367 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000004849 - Ensembl, 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. ↑ 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. doi:10.1006/geno.1998.5289. PMID   9653655.
  6. 1 2 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.
  7. 1 2 "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. doi:10.1371/journal.pgen.1000296. PMC   2585812 . PMID   19057675.
  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. doi: 10.1016/S0092-8674(00)81650-5 . PMID   10535737. S2CID   15288582.
  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. doi:10.1083/jcb.131.3.619. PMC   2120623 . PMID   7593184.
  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. doi:10.1038/msb4100134. PMC   1847948 . PMID   17353931.

Further reading


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