PAPSS2

PAPSS2
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2AX4
Identifiers
Aliases	PAPSS2, ATPSK2, BCYM4, SK2, 3'-phosphoadenosine 5'-phosphosulfate synthase 2
External IDs	OMIM: 603005; MGI: 1330223; HomoloGene: 55840; GeneCards: PAPSS2; OMA:PAPSS2 - orthologs
Gene location (Human)
Chr.	Chromosome 10 (human)
End	87,747,705 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	32,644,587 bp
RNA expression pattern
	Top expressed in
	tibia; ; mucosa of sigmoid colon; ; lower lobe of lung; ; cartilage tissue; ; beta cell; ; visceral pleura; ; adrenal cortex; ; right adrenal gland; ; right adrenal cortex; ; jejunal mucosa;
	Top expressed in
	duodenum; ; lacrimal gland; ; pyloric antrum; ; occiput; ; occipital bone; ; epithelium of stomach; ; islet of Langerhans; ; mucous cell of stomach; ; finger; ; lateral part of occipital bone;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	ATP binding; nucleotidyltransferase activity; kinase activity; catalytic activity; nucleotide binding; transferase activity; sulfate adenylyltransferase (ATP) activity; adenylylsulfate kinase activity;
Cellular component	cytosol;
Biological process	blood coagulation; skeletal system development; bone development; phosphorylation; metabolism; sulfate assimilation; 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process;
	Sources:Amigo / QuickGO
Orthologs
	9060
	23972
	ENSG00000198682
	ENSMUSG00000024899
	O95340; Q5TB52
	O88428
	NM_004670; NM_001015880
	NM_001201470; NM_011864; NM_001360403
	NP_001015880; NP_004661; NP_004661.2
	NP_001188399; NP_035994; NP_001347332
	Wikidata
View/Edit Human	View/Edit Mouse

Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthetase 2 is an enzyme that in humans is encoded by the PAPSS2 gene.^[5]^[6]

Sulfation is a common modification of endogenous (lipids, proteins, and carbohydrates) and exogenous (xenobiotics and drugs) compounds. In mammals, the sulfate source is 3'-phosphoadenosine 5'-phosphosulfate (PAPS), created from ATP and inorganic sulfate. Two different tissue isoforms encoded by different genes synthesize PAPS. This gene encodes one of the two PAPS synthetases. Defects in this gene cause the Pakistani type of spondyloepimetaphyseal dysplasia. Two alternatively spliced transcript variants that encode different isoforms have been described for this gene.^[6]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000198682 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000024899 – 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.
^ ul Haque MF, King LM, Krakow D, Cantor RM, Rusiniak ME, Swank RT, Superti-Furga A, Haque S, Abbas H, Ahmad W, Ahmad M, Cohn DH (Oct 1998). "Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse". Nat Genet. 20 (2): 157–62. doi:10.1038/2458. PMID 9771708. S2CID 13108930.
^ ^a ^b "Entrez Gene: PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2".

Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Shimizu C, Fuda H, Lee YC, Strott CA (2002). "Transcriptional regulation of human 3'-phosphoadenosine 5'-phosphosulphate synthase 2". Biochem. J. 363 (Pt 2): 263–71. doi:10.1042/0264-6021:3630263. PMC 1222474. PMID 11931653.
Fuda H, Shimizu C, Lee YC, et al. (2002). "Characterization and expression of human bifunctional 3'-phosphoadenosine 5'-phosphosulphate synthase isoforms". Biochem. J. 365 (Pt 2): 497–504. doi:10.1042/BJ20020044. PMC 1222679. PMID 11931637.
Xu ZH, Freimuth RR, Eckloff B, et al. (2002). "Human 3'-phosphoadenosine 5'-phosphosulfate synthetase 2 (PAPSS2) pharmacogenetics: gene resequencing, genetic polymorphisms and functional characterization of variant allozymes". Pharmacogenetics. 12 (1): 11–21. doi:10.1097/00008571-200201000-00003. PMID 11773860.
Xu Z, Wood TC, Adjei AA, Weinshilboum RM (2001). "Human 3'-phosphoadenosine 5'-phosphosulfate synthetase: radiochemical enzymatic assay, biochemical properties, and hepatic variation". Drug Metab. Dispos. 29 (2): 172–8. PMID 11159808.
Xu ZH, Otterness DM, Freimuth RR, et al. (2000). "Human 3'-phosphoadenosine 5'-phosphosulfate synthetase 1 (PAPSS1) and PAPSS2: gene cloning, characterization and chromosomal localization". Biochem. Biophys. Res. Commun. 268 (2): 437–44. doi:10.1006/bbrc.2000.2123. PMID 10679223.
Besset S, Vincourt JB, Amalric F, Girard JP (2000). "Nuclear localization of PAPS synthetase 1: a sulfate activation pathway in the nucleus of eukaryotic cells". FASEB J. 14 (2): 345–54. doi:10.1096/fasebj.14.2.345. PMID 10657990. S2CID 9024784.
Kurima K, Singh B, Schwartz NB (1999). "Genomic organization of the mouse and human genes encoding the ATP sulfurylase/adenosine 5'-phosphosulfate kinase isoform SK2". J. Biol. Chem. 274 (47): 33306–12. doi:10.1074/jbc.274.47.33306. PMID 10559207.
Ahmad M, Haque MF, Ahmad W, et al. (1998). "Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred". Am. J. Med. Genet. 78 (5): 468–73. doi:10.1002/(SICI)1096-8628(19980806)78:5<468::AID-AJMG13>3.0.CO;2-D. PMID 9714015.
Kurima K, Warman ML, Krishnan S, et al. (1998). "A member of a family of sulfate-activating enzymes causes murine brachymorphism". Proc. Natl. Acad. Sci. U.S.A. 95 (15): 8681–5. Bibcode:1998PNAS...95.8681K. doi:10.1073/pnas.95.15.8681. PMC 21136. PMID 9671738.

This article on a gene on human chromosome 10 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000198682 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000024899 – 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.

[pmid9771708-5] ul Haque MF, King LM, Krakow D, Cantor RM, Rusiniak ME, Swank RT, Superti-Furga A, Haque S, Abbas H, Ahmad W, Ahmad M, Cohn DH (Oct 1998). "Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse". Nat Genet. 20 (2): 157–62. doi:10.1038/2458. PMID 9771708. S2CID 13108930.

[entrez-6] "Entrez Gene: PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2".

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References

Further reading