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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''AP-1 complex subunit sigma-1A''' is a [[protein]] that in humans is encoded by the ''AP1S1'' [[gene]].<ref name="pmid9653655">{{cite journal | vauthors = Peyrard M, Parveneh S, Lagercrantz S, Ekman M, Fransson I, Sahlén S, Dumanski JP | title = Cloning, expression pattern, and chromosomal assignment to 16q23 of the human gamma-adaptin gene (ADTG) | journal = Genomics | volume = 50 | issue = 2 | pages = 275–80 | date = Jun 1998 | pmid = 9653655 | pmc =  | doi = 10.1006/geno.1998.5289 }}</ref><ref name="pmid9733768">{{cite journal | vauthors = Takatsu H, Sakurai M, Shin HW, Murakami K, Nakayama K | title = Identification and characterization of novel clathrin adaptor-related proteins | journal = The Journal of Biological Chemistry | volume = 273 | issue = 38 | pages = 24693–700 | date = Sep 1998 | pmid = 9733768 | pmc = | doi = 10.1074/jbc.273.38.24693 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: AP1S1 adaptor-related protein complex 1, sigma 1 subunit| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1174| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image = PBB_Protein_AP1S1_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1w63.
| PDB = {{PDB2|1w63}}
| Name = Adaptor-related protein complex 1, sigma 1 subunit
| HGNCid = 559
| Symbol = AP1S1
| AltSymbols =; AP19; CLAPS1; SIGMA1A
| OMIM = 603531
| ECnumber = 
| Homologene = 20342
| MGIid = 1098244
| GeneAtlas_image1 = PBB_GE_AP1S1_209635_at_tn.png
| GeneAtlas_image2 = PBB_GE_AP1S1_205195_at_tn.png
| GeneAtlas_image3 = PBB_GE_AP1S1_205196_s_at_tn.png
| Function = {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0008565 |text = protein transporter activity}}
| Component = {{GNF_GO|id=GO:0005802 |text = trans-Golgi network}} {{GNF_GO|id=GO:0005905 |text = coated pit}} {{GNF_GO|id=GO:0030121 |text = AP-1 adaptor complex}} {{GNF_GO|id=GO:0030662 |text = coated vesicle membrane}}
| Process = {{GNF_GO|id=GO:0006886 |text = intracellular protein transport}} {{GNF_GO|id=GO:0006898 |text = receptor-mediated endocytosis}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 1174
    | Hs_Ensembl = ENSG00000106367
    | Hs_RefseqProtein = NP_001274
    | Hs_RefseqmRNA = NM_001283
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 7
    | Hs_GenLoc_start = 100584398
    | Hs_GenLoc_end = 100591240
    | Hs_Uniprot = P61966
    | Mm_EntrezGene = 11769
    | Mm_Ensembl = ENSMUSG00000004849
    | Mm_RefseqmRNA = NM_007457
    | Mm_RefseqProtein = NP_031483
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 5
    | Mm_GenLoc_start = 137320371
    | Mm_GenLoc_end = 137327869
    | Mm_Uniprot = P61967
  }}
}}
'''Adaptor-related protein complex 1, sigma 1 subunit''', also known as '''AP1S1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: AP1S1 adaptor-related protein complex 1, sigma 1 subunit| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1174| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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.<ref name="entrez"/>
{{PBB_Summary
| section_title =
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: AP1S1 adaptor-related protein complex 1, sigma 1 subunit| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1174| accessdate = }}</ref>
}}


==References==
A mutation in the AP1S1 causes the rare familial [[MEDNIK_Syndrome | MEDNIK syndrome ]] described in 2008.<!--
{{reflist|2}}
 
==Further reading==
--><ref name="pmid19057675">{{cite journal | vauthors = Montpetit A, Côté S, Brustein E, Drouin CA, Lapointe L, Boudreau M, Meloche C, Drouin R, Hudson TJ, Drapeau P, Cossette P | title = Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord | journal = PLoS Genetics | volume = 4 | issue = 12 | pages = e1000296 | date = Dec 2008 | pmid = 19057675 | pmc = 2585812 | doi = 10.1371/journal.pgen.1000296 | editor1-last = Van Heyningen | editor1-first = Veronica }}</ref>
 
== Interactions ==
 
AP1S1 has been shown to [[Protein-protein interaction|interact]] with [[AP1G1]]<ref name=pmid9733768 /><ref name=pmid10535737>{{cite journal | vauthors = Fölsch H, Ohno H, Bonifacino JS, Mellman I | title = A novel clathrin adaptor complex mediates basolateral targeting in polarized epithelial cells | journal = Cell | volume = 99 | issue = 2 | pages = 189–98 | date = Oct 1999 | pmid = 10535737 | doi = 10.1016/S0092-8674(00)81650-5 }}</ref><ref name=pmid7593184>{{cite journal | vauthors = Page LJ, Robinson MS | title = Targeting signals and subunit interactions in coated vesicle adaptor complexes | journal = The Journal of Cell Biology | volume = 131 | issue = 3 | pages = 619–30 | date = Nov 1995 | pmid = 7593184 | pmc = 2120623 | doi = 10.1083/jcb.131.3.619 }}</ref> and [[RAB10]].<ref name=pmid17353931>{{cite journal | vauthors = 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 | title = Large-scale mapping of human protein-protein interactions by mass spectrometry | journal = Molecular Systems Biology | volume = 3 | issue = 1 | pages = 89 | year = 2007 | pmid = 17353931 | pmc = 1847948 | doi = 10.1038/msb4100134 }}</ref>
 
== References ==
{{reflist}}
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Kirchhausen T | title = Clathrin | journal = Annual Review of Biochemistry | volume = 69 | issue =  | pages = 699–727 | year = 2000 | pmid = 10966473 | doi = 10.1146/annurev.biochem.69.1.699 }}
| citations =
* {{cite journal | vauthors = Geyer M, Fackler OT, Peterlin BM | title = Structure--function relationships in HIV-1 Nef | journal = EMBO Reports | volume = 2 | issue = 7 | pages = 580–5 | date = Jul 2001 | pmid = 11463741 | pmc = 1083955 | doi = 10.1093/embo-reports/kve141 }}
*{{cite journal | author=Kirchhausen T |title=Clathrin. |journal=Annu. Rev. Biochem. |volume=69 |issue=  |pages= 699-727 |year= 2000 |pmid= 10966473 |doi= 10.1146/annurev.biochem.69.1.699 }}
* {{cite journal | vauthors = Bénichou S, Benmerah A | title = [The HIV nef and the Kaposi-sarcoma-associated virus K3/K5 proteins: "parasites"of the endocytosis pathway] | journal = Médecine Sciences | volume = 19 | issue = 1 | pages = 100–6 | date = Jan 2003 | pmid = 12836198 | doi = 10.1051/medsci/2003191100 }}
*{{cite journal | author=Geyer M, Fackler OT, Peterlin BM |title=Structure--function relationships in HIV-1 Nef. |journal=EMBO Rep. |volume=2 |issue= 7 |pages= 580-5 |year= 2001 |pmid= 11463741 |doi= 10.1093/embo-reports/kve141 }}
* {{cite journal | vauthors = Kirchhausen T, Davis AC, Frucht S, Greco BO, Payne GS, Tubb B | title = AP17 and AP19, the mammalian small chains of the clathrin-associated protein complexes show homology to Yap17p, their putative homolog in yeast | journal = The Journal of Biological Chemistry | volume = 266 | issue = 17 | pages = 11153–7 | date = Jun 1991 | pmid = 2040623 | doi =  }}
*{{cite journal | author=Bénichou S, Benmerah A |title=[The HIV nef and the Kaposi-sarcoma-associated virus K3/K5 proteins: "parasites"of the endocytosis pathway] |journal=Med Sci (Paris) |volume=19 |issue= 1 |pages= 100-6 |year= 2003 |pmid= 12836198 |doi= }}
* {{cite journal | vauthors = Craig HM, Pandori MW, Guatelli JC | title = Interaction of HIV-1 Nef with the cellular dileucine-based sorting pathway is required for CD4 down-regulation and optimal viral infectivity | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 95 | issue = 19 | pages = 11229–34 | date = Sep 1998 | pmid = 9736718 | pmc = 21624 | doi = 10.1073/pnas.95.19.11229 }}
*{{cite journal | author=Kirchhausen T, Davis AC, Frucht S, ''et al.'' |title=AP17 and AP19, the mammalian small chains of the clathrin-associated protein complexes show homology to Yap17p, their putative homolog in yeast. |journal=J. Biol. Chem. |volume=266 |issue= 17 |pages= 11153-7 |year= 1991 |pmid= 2040623 |doi=  }}
* {{cite journal | vauthors = Bresnahan PA, Yonemoto W, Ferrell S, Williams-Herman D, Geleziunas R, Greene WC | title = A dileucine motif in HIV-1 Nef acts as an internalization signal for CD4 downregulation and binds the AP-1 clathrin adaptor | journal = Current Biology | volume = 8 | issue = 22 | pages = 1235–8 | date = Nov 1998 | pmid = 9811606 | doi = 10.1016/S0960-9822(07)00517-9 }}
*{{cite journal | author=Peyrard M, Parveneh S, Lagercrantz S, ''et al.'' |title=Cloning, expression pattern, and chromosomal assignment to 16q23 of the human gamma-adaptin gene (ADTG). |journal=Genomics |volume=50 |issue= 2 |pages= 275-80 |year= 1998 |pmid= 9653655 |doi= 10.1006/geno.1998.5289 }}
* {{cite journal | vauthors = Greenberg M, DeTulleo L, Rapoport I, Skowronski J, Kirchhausen T | title = A dileucine motif in HIV-1 Nef is essential for sorting into clathrin-coated pits and for downregulation of CD4 | journal = Current Biology | volume = 8 | issue = 22 | pages = 1239–42 | date = Nov 1998 | pmid = 9811611 | doi = 10.1016/S0960-9822(07)00518-0 }}
*{{cite journal  | author=Takatsu H, Sakurai M, Shin HW, ''et al.'' |title=Identification and characterization of novel clathrin adaptor-related proteins. |journal=J. Biol. Chem. |volume=273 |issue= 38 |pages= 24693-700 |year= 1998 |pmid= 9733768 |doi=  }}
* {{cite journal | vauthors = | title = Toward a complete human genome sequence | journal = Genome Research | volume = 8 | issue = 11 | pages = 1097–108 | date = Nov 1998 | pmid = 9847074 | doi = 10.1101/gr.8.11.1097 }}
*{{cite journal  | author=Craig HM, Pandori MW, Guatelli JC |title=Interaction of HIV-1 Nef with the cellular dileucine-based sorting pathway is required for CD4 down-regulation and optimal viral infectivity. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=95 |issue= 19 |pages= 11229-34 |year= 1998 |pmid= 9736718 |doi= }}
* {{cite journal | vauthors = Berlioz-Torrent C, Shacklett BL, Erdtmann L, Delamarre L, Bouchaert I, Sonigo P, Dokhelar MC, Benarous R | title = 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 = Journal of Virology | volume = 73 | issue = 2 | pages = 1350–61 | date = Feb 1999 | pmid = 9882340 | pmc = 103959 | doi =  }}
*{{cite journal | author=Bresnahan PA, Yonemoto W, Ferrell S, ''et al.'' |title=A dileucine motif in HIV-1 Nef acts as an internalization signal for CD4 downregulation and binds the AP-1 clathrin adaptor. |journal=Curr. Biol. |volume=8 |issue= 22 |pages= 1235-8 |year= 1999 |pmid= 9811606 |doi= }}
* {{cite journal | vauthors = Fölsch H, Ohno H, Bonifacino JS, Mellman I | title = A novel clathrin adaptor complex mediates basolateral targeting in polarized epithelial cells | journal = Cell | volume = 99 | issue = 2 | pages = 189–98 | date = Oct 1999 | pmid = 10535737 | doi = 10.1016/S0092-8674(00)81650-5 }}
*{{cite journal | author=Greenberg M, DeTulleo L, Rapoport I, ''et al.'' |title=A dileucine motif in HIV-1 Nef is essential for sorting into clathrin-coated pits and for downregulation of CD4. |journal=Curr. Biol. |volume=8 |issue= 22 |pages= 1239-42 |year= 1999 |pmid= 9811611 |doi= }}
* {{cite journal | vauthors = Wyss S, Berlioz-Torrent C, Boge M, Blot G, Höning S, Benarous R, Thali M | title = 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 = Journal of Virology | volume = 75 | issue = 6 | pages = 2982–92 | date = Mar 2001 | pmid = 11222723 | pmc = 115924 | doi = 10.1128/JVI.75.6.2982-2992.2001 }}
*{{cite journal | author= |title=Toward a complete human genome sequence. |journal=Genome Res. |volume=8 |issue= 11 |pages= 1097-108 |year= 1999 |pmid= 9847074 |doi= }}
* {{cite journal | vauthors = Boehm M, Aguilar RC, Bonifacino JS | title = Functional and physical interactions of the adaptor protein complex AP-4 with ADP-ribosylation factors (ARFs) | journal = The EMBO Journal | volume = 20 | issue = 22 | pages = 6265–76 | date = Nov 2001 | pmid = 11707398 | pmc = 125733 | doi = 10.1093/emboj/20.22.6265 }}
*{{cite journal | author=Berlioz-Torrent C, Shacklett BL, Erdtmann L, ''et al.'' |title=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=J. Virol. |volume=73 |issue= 2 |pages= 1350-61 |year= 1999 |pmid= 9882340 |doi=  }}
* {{cite journal | vauthors = Janvier K, Craig H, Hitchin D, Madrid R, Sol-Foulon N, Renault L, Cherfils J, Cassel D, Benichou S, Guatelli J | title = HIV-1 Nef stabilizes the association of adaptor protein complexes with membranes | journal = The Journal of Biological Chemistry | volume = 278 | issue = 10 | pages = 8725–32 | date = Mar 2003 | pmid = 12486136 | doi = 10.1074/jbc.M210115200 }}
*{{cite journal | author=Fölsch H, Ohno H, Bonifacino JS, Mellman I |title=A novel clathrin adaptor complex mediates basolateral targeting in polarized epithelial cells. |journal=Cell |volume=99 |issue= 2 |pages= 189-98 |year= 1999 |pmid= 10535737 |doi= }}
*{{cite journal | author=Wyss S, Berlioz-Torrent C, Boge M, ''et al.'' |title=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=J. Virol. |volume=75 |issue= 6 |pages= 2982-92 |year= 2001 |pmid= 11222723 |doi= 10.1128/JVI.75.6.2982-2992.2001 }}
*{{cite journal | author=Boehm M, Aguilar RC, Bonifacino JS |title=Functional and physical interactions of the adaptor protein complex AP-4 with ADP-ribosylation factors (ARFs). |journal=EMBO J. |volume=20 |issue= 22 |pages= 6265-76 |year= 2002 |pmid= 11707398 |doi= 10.1093/emboj/20.22.6265 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | author=Janvier K, Craig H, Hitchin D, ''et al.'' |title=HIV-1 Nef stabilizes the association of adaptor protein complexes with membranes. |journal=J. Biol. Chem. |volume=278 |issue= 10 |pages= 8725-32 |year= 2003 |pmid= 12486136 |doi= 10.1074/jbc.M210115200 }}
*{{cite journal  | author=Hillier LW, Fulton RS, Fulton LA, ''et al.'' |title=The DNA sequence of human chromosome 7. |journal=Nature |volume=424 |issue= 6945 |pages= 157-64 |year= 2003 |pmid= 12853948 |doi= 10.1038/nature01782 }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
==External links==
{{WikiDoc Sources}}
* {{UCSC gene info|AP1S1}}
{{PDB Gallery|geneid=1174}}
 
 
{{gene-7-stub}}

Latest revision as of 18:05, 29 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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

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.[3]

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

Interactions

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

References

  1. ↑ 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.
  2. ↑ 2.0 2.1 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. ↑ 3.0 3.1 "Entrez Gene: AP1S1 adaptor-related protein complex 1, sigma 1 subunit".
  4. ↑ 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.
  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, 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

External links


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