PAPSS2

PAPSS2
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	2AX4
Identifikatori
Aliasi	PAPSS2
Vanjski ID-jevi	OMIM: 603005 MGI: 1330223 HomoloGene: 55840 GeneCards: PAPSS2
Lokacija gena (čovjek)
Hrom.	Hromosom 10 (čovjek)
Kraj	87,747,705 bp
Lokacija gena (miš)
Hrom.	Hromosom 19 (miš)
Kraj	32,644,587 bp
Obrazac RNK ekspresije
	; ; ; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• ATP binding; • nucleotidyltransferase activity; • kinase activity; • catalytic activity; • nucleotide binding; • aktivnost sa transferazom; • sulfate adenylyltransferase (ATP) activity; • adenylylsulfate kinase activity;
Ćelijska komponenta	• citosol;
Biološki proces	• Koagulacija (krv); • skeletal system development; • bone development; • Fosforilacija; • metabolizam; • sulfate assimilation; • 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process;
	Izvori:Amigo / QuickGO
Ortolozi
	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
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Bifunkcijska 3'-fosfoadenozin 5'-fosfosulfat-sintetaza 2 je enzim koji je kod ljudi kodiran genom PAPSS2.^[5]^[6]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 614 aminokiselina, а molekulska težina 69.501 Da.^[7]

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

10	20	30	40	50
MSGIKKQKTE	NQQKSTNVVY	QAHHVSRNKR	GQVVGTRGGF	RGCTVWLTGL
SGAGKTTISF	ALEEYLVSHA	IPCYSLDGDN	VRHGLNRNLG	FSPGDREENI
RRIAEVAKLF	ADAGLVCITS	FISPFAKDRE	NARKIHESAG	LPFFEIFVDA
PLNICESRDV	KGLYKRARAG	EIKGFTGIDS	DYEKPETPER	VLKTNLSTVS
DCVHQVVELL	QEQNIVPYTI	IKDIHELFVP	ENKLDHVRAE	AETLPSLSIT
KLDLQWVQVL	SEGWATPLKG	FMREKEYLQV	MHFDTLLDDG	VINMSIPIVL
PVSAEDKTRL	EGCSKFVLAH	GGRRVAILRD	AEFYEHRKEE	RCSRVWGTTC
TKHPHIKMVM	ESGDWLVGGD	LQVLEKIRWN	DGLDQYRLTP	LELKQKCKEM
NADAVFAFQL	RNPVHNGHAL	LMQDTRRRLL	ERGYKHPVLL	LHPLGGWTKD
DDVPLDWRMK	QHAAVLEEGV	LDPKSTIVAI	FPSPMLYAGP	TEVQWHCRSR
MIAGANFYIV	GRDPAGMPHP	ETKKDLYEPT	HGGKVLSMAP	GLTSVEIIPF
RVAAYNKAKK	AMDFYDPARH	NEFDFISGTR	MRKLAREGEN	PPDGFMAPKA
WKVLTDYYRS	LEKN

Funkcija

Sulfacija je uobičajena modifikacija endogenih (lipida, proteina i ugljikohidrata) i egzogenih (ksenobiotika i lijekova) spojeva. Kod sisara izvor sulfata je 3'-fosfoadenozin 5'-fosfosulfat (PAPS), stvoren od ATP-a i anorganskog sulfata. Dvije različite tkivne izoforme kodirane različitim genima sintetiziraju PAPS. Ovaj gen kodira jednu od dvije PAPS sintetaza. Defekti ovog gena uzrokuju pakistanski tip spondiloepimetafizne displazije. Za ovaj gen opisane su dvije alternativno prerađene varijante transkripta koje kodiraju različite izoforme.^[6]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000198682 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000024899 - Ensembl, maj 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".
^ "UniProt, O95340". Pristupljeno 3. 9. 2021.

Dopunska literatura

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. 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. doi:10.1073/pnas.95.15.8681. PMC 21136. PMID 9671738.

Vanjski linkovi

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

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000024899 - Ensembl, maj 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".

[UniProt-7] "UniProt, O95340". Pristupljeno 3. 9. 2021.

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