AP1S1

AP1S1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4P6Z, 1W63
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; OMA:AP1S1 - orthologs
Gene location (Human) Chr. Chromosome 7 (human) [1] Band 7q22.1 Start 101,154,456 bp [1] End 101,161,596 bp [1]
Gene location (Mouse) Chr. Chromosome 5 (mouse) [2] Band 5|5 G2 Start 137,063,847 bp [2] End 137,074,989 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of transverse colon stromal cell of endometrium prefrontal cortex nucleus accumbens right frontal lobe islet of Langerhans caudate nucleus putamen Brodmann area 9 amygdala Top expressed in dentate gyrus of hippocampal formation granule cell entorhinal cortex superior frontal gyrus perirhinal cortex CA3 field primary visual cortex olfactory tubercle yolk sac nucleus accumbens lip More reference expression data BioGPS More reference expression data
Orthologs Species Human Mouse 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]}

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]

References

1. GRCh38: Ensembl release 89: ENSG00000106367 – Ensembl, May 2017
2. 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. 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. "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

• Kirchhausen T (2000). "Clathrin". Annual Review of Biochemistry. 69: 699–727. doi:10.1146/annurev.biochem.69.1.699. PMID   10966473.
• Geyer M, Fackler OT, Peterlin BM (Jul 2001). "Structure--function relationships in HIV-1 Nef". EMBO Reports. 2 (7): 580–5. doi:10.1093/embo-reports/kve141. PMC   1083955 . PMID   11463741.
• Bénichou S, Benmerah A (Jan 2003). "[The HIV nef and the Kaposi-sarcoma-associated virus K3/K5 proteins: "parasites"of the endocytosis pathway]". Médecine/Sciences. 19 (1): 100–6. doi: 10.1051/medsci/2003191100 . PMID   12836198.
• Kirchhausen T, Davis AC, Frucht S, Greco BO, Payne GS, Tubb B (Jun 1991). "AP17 and AP19, the mammalian small chains of the clathrin-associated protein complexes show homology to Yap17p, their putative homolog in yeast". The Journal of Biological Chemistry. 266 (17): 11153–7. doi: 10.1016/S0021-9258(18)99141-6 . PMID   2040623.
• Craig HM, Pandori MW, Guatelli JC (Sep 1998). "Interaction of HIV-1 Nef with the cellular dileucine-based sorting pathway is required for CD4 down-regulation and optimal viral infectivity". Proceedings of the National Academy of Sciences of the United States of America. 95 (19): 11229–34. Bibcode:1998PNAS...9511229C. doi: 10.1073/pnas.95.19.11229 . PMC   21624 . PMID   9736718.
• Bresnahan PA, Yonemoto W, Ferrell S, Williams-Herman D, Geleziunas R, Greene WC (Nov 1998). "A dileucine motif in HIV-1 Nef acts as an internalization signal for CD4 downregulation and binds the AP-1 clathrin adaptor". Current Biology. 8 (22): 1235–8. Bibcode:1998CBio....8.1235B. doi: 10.1016/S0960-9822(07)00517-9 . PMID   9811606. S2CID   16541580.
• Greenberg M, DeTulleo L, Rapoport I, Skowronski J, Kirchhausen T (Nov 1998). "A dileucine motif in HIV-1 Nef is essential for sorting into clathrin-coated pits and for downregulation of CD4". Current Biology. 8 (22): 1239–42. Bibcode:1998CBio....8.1239G. doi: 10.1016/S0960-9822(07)00518-0 . PMID   9811611. S2CID   14272751.
• Sanger Centre T, Washington University Genome Sequencing Cente T (Nov 1998). "Toward a complete human genome sequence". Genome Research. 8 (11): 1097–108. doi: 10.1101/gr.8.11.1097 . PMID   9847074.
• Berlioz-Torrent C, Shacklett BL, Erdtmann L, Delamarre L, Bouchaert I, Sonigo P, Dokhelar MC, Benarous R (Feb 1999). "Interactions of the cytoplasmic domains of human and simian retroviral transmembrane proteins with components of the clathrin adaptor complexes modulate intracellular and cell surface expression of envelope glycoproteins". Journal of Virology. 73 (2): 1350–61. doi:10.1128/JVI.73.2.1350-1361.1999. PMC   103959 . PMID   9882340.
• 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.
• Wyss S, Berlioz-Torrent C, Boge M, Blot G, Höning S, Benarous R, Thali M (Mar 2001). "The highly conserved C-terminal dileucine motif in the cytosolic domain of the human immunodeficiency virus type 1 envelope glycoprotein is critical for its association with the AP-1 clathrin adaptor [correction of adapter]". Journal of Virology. 75 (6): 2982–92. doi:10.1128/JVI.75.6.2982-2992.2001. PMC   115924 . PMID   11222723.
• Boehm M, Aguilar RC, Bonifacino JS (Nov 2001). "Functional and physical interactions of the adaptor protein complex AP-4 with ADP-ribosylation factors (ARFs)". The EMBO Journal. 20 (22): 6265–76. doi:10.1093/emboj/20.22.6265. PMC   125733 . PMID   11707398.
• Janvier K, Craig H, Hitchin D, Madrid R, Sol-Foulon N, Renault L, Cherfils J, Cassel D, Benichou S, Guatelli J (Mar 2003). "HIV-1 Nef stabilizes the association of adaptor protein complexes with membranes". The Journal of Biological Chemistry. 278 (10): 8725–32. doi: 10.1074/jbc.M210115200 . PMID   12486136.

External links

• Human AP1S1 genome location and AP1S1 gene details page in the UCSC Genome Browser .