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)
End	101,161,596 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	137,074,989 bp
RNA expression pattern
	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
	; ; ; ;
	More reference expression data
Orthologs
	1174
	11769
	ENSG00000106367
	ENSMUSG00000004849
	P61966
	P61967
	NM_057089; NM_001283
	NM_007457
	NP_001274
	NP_031483
	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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000106367 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000004849 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ ^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.
^ ^a ^b "Entrez Gene: AP1S1 adaptor-related protein complex 1, sigma 1 subunit".
^ 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.
^ 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.
^ 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.
^ 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.

External links

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

This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000106367 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid9653655-5] 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.

[pmid9733768-6] 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.

[entrez-7] "Entrez Gene: AP1S1 adaptor-related protein complex 1, sigma 1 subunit".

[pmid19057675-8] 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.

[pmid10535737-9] 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.

[pmid7593184-10] 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.

[pmid17353931-11] 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.

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Function

Interactions

References

Further reading

External links