AP1S1

Protein-coding gene in the species Homo sapiens
AP1S1
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

4P6Z, 1W63

Identifiers
AliasesAP1S1, 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 IDsOMIM: 603531; MGI: 1098244; HomoloGene: 20342; GeneCards: AP1S1; OMA:AP1S1 - orthologs
Gene location (Human)
Chromosome 7 (human)
Chr.Chromosome 7 (human)[1]
Chromosome 7 (human)
Genomic location for AP1S1
Genomic location for AP1S1
Band7q22.1Start101,154,456 bp[1]
End101,161,596 bp[1]
Gene location (Mouse)
Chromosome 5 (mouse)
Chr.Chromosome 5 (mouse)[2]
Chromosome 5 (mouse)
Genomic location for AP1S1
Genomic location for AP1S1
Band5|5 G2Start137,063,847 bp[2]
End137,074,989 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
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 MbChr 5: 137.06 – 137.07 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ 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:". 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. ^ 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.
  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. 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

  • v
  • t
  • e
  • 1w63: AP1 CLATHRIN ADAPTOR CORE
    1w63: AP1 CLATHRIN ADAPTOR CORE


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