SUMF2

SUMF2
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	1Y4J
Identifikatori
Aliasi	SUMF2
Vanjski ID-jevi	OMIM: 607940 MGI: 1915152 HomoloGene: 41037 GeneCards: SUMF2
Lokacija gena (čovjek)
Hrom.	Hromosom 7 (čovjek)
Kraj	56,080,670 bp
Lokacija gena (miš)
Hrom.	Hromosom 5 (miš)
Kraj	129,864,050 bp
Ontologija gena
Molekularna funkcija	• vezivanje iona metala;
Ćelijska komponenta	• endoplasmic reticulum lumen; • Endoplazmatski retikulum;
Biološki proces	• Posttranslacione modifikacije; • glycosphingolipid metabolic process;
	Izvori:Amigo / QuickGO
Ortolozi
	25870
	67902
	ENSG00000129103
	ENSMUSG00000025538
	Q8NBJ7
	Q8BPG6
NM_001042468; NM_001042469; NM_001042470; NM_001130069; NM_001130070;
	NM_001146333; NM_015411; NM_001366647; NM_001366648; NM_001366649
	NM_026445
NP_001035934; NP_001035935; NP_001123541; NP_001139805; NP_056226;
	NP_001035933; NP_001353576; NP_001353577; NP_001353578
	NP_080721
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Sulfataza-modificirajući faktor 2 jest enzim koji je kod ljudi kodiran genom SUMF2.^[5]^[6]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 301 aminokiselina, а molekulska težina 33.843 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
MARHGLPLLP	LLSLLVGAWL	KLGNGQATSM	VQLQGGRFLM	GTNSPDSRDG
DGPVREATVK	PFAIDIFPVT	NKDFRDFVRE	KKYRTEAEMF	GWSFVFEDFV
SDELRNKATQ	PMKSVLWWLP	VEKAFWRQPA	GPGSGIRERL	EHPVLHVSWN
DARAYCAWRG	KRLPTEEEWE	FAARGGLKGQ	VYPWGNWFQP	NRTNLWQGKF
PKGDKAEDGF	HGVSPVNAFP	AQNNYGLYDL	LGNVWEWTAS	PYQAAEQDMR
VLRGASWIDT	ADGSANHRAR	VTTRMGNTPD	SASDNLGFRC	AADAGRPPGE
L

Funkcija

Katalizna mjesta sulfataza su aktivna samo ako sadrže jedinstvenu aminokiselinu, C-alfa-formilglicin (FGly). Ostatak FGly posttranslacijski se generira iz cisteina, enzimima s aktivnošću stvaranja FGly. Gen opisan u ovom zapisu je član porodice faktora koji modifikuju sulfataza i kodira protein sa domenom DUF323 koja se nalazi u lumenu endoplazmatskog retikuluma. Ovaj protein ima niske nivoe aktivnosti generiranja FGly, ali se može heterodimerizirati s drugim članom porodice – proteinom s visokim nivoom aktivnosti stvaranja FGly. Okarakterizirane su alternativno prerađene varijante transkripta, koje kodiraju različite izoforme.^[6]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000129103 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000025538 - 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.
^ Cosma MP, Pepe S, Annunziata I, Newbold RF, Grompe M, Parenti G, Ballabio A (maj 2003). "The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases". Cell. 113 (4): 445–56. doi:10.1016/S0092-8674(03)00348-9. PMID 12757706. S2CID 15095377.
^ ^a ^b "Entrez Gene: SUMF2 sulfatase modifying factor 2".
^ "UniProt, Q8NBJ7" (jezik: engleski). Pristupljeno 29. 9. 2021.

Dopunska literatura

Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
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.
Dierks T, Schmidt B, Borissenko LV, et al. (2003). "Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme". Cell. 113 (4): 435–44. doi:10.1016/S0092-8674(03)00347-7. PMID 12757705. S2CID 11571659.
Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7". Nature. 424 (6945): 157–64. doi:10.1038/nature01782. PMID 12853948.
Clark HF, Gurney AL, Abaya E, et al. (2003). "The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
Landgrebe J, Dierks T, Schmidt B, von Figura K (2004). "The human SUMF1 gene, required for posttranslational sulfatase modification, defines a new gene family which is conserved from pro- to eukaryotes". Gene. 316: 47–56. doi:10.1016/S0378-1119(03)00746-7. PMID 14563551.
Colland F, Jacq X, Trouplin V, et al. (2004). "Functional Proteomics Mapping of a Human Signaling Pathway". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748.
Suzuki Y, Yamashita R, Shirota M, et al. (2004). "Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions". Genome Res. 14 (9): 1711–8. doi:10.1101/gr.2435604. PMC 515316. PMID 15342556.
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.
Dickmanns A, Schmidt B, Rudolph MG, et al. (2005). "Crystal structure of human pFGE, the paralog of the Calpha-formylglycine-generating enzyme". J. Biol. Chem. 280 (15): 15180–7. doi:10.1074/jbc.M414317200. PMID 15687489.
Mariappan M, Preusser-Kunze A, Balleininger M, et al. (2005). "Expression, localization, structural, and functional characterization of pFGE, the paralog of the Calpha-formylglycine-generating enzyme". J. Biol. Chem. 280 (15): 15173–9. doi:10.1074/jbc.M413698200. PMID 15708861.
Zito E, Fraldi A, Pepe S, et al. (2005). "Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2". EMBO Rep. 6 (7): 655–60. doi:10.1038/sj.embor.7400454. PMC 1369113. PMID 15962010.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.

Vanjski lingovi

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000129103 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000025538 - 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.

[pmid12757706-5] Cosma MP, Pepe S, Annunziata I, Newbold RF, Grompe M, Parenti G, Ballabio A (maj 2003). "The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases". Cell. 113 (4): 445–56. doi:10.1016/S0092-8674(03)00348-9. PMID 12757706. S2CID 15095377.

[entrez-6] "Entrez Gene: SUMF2 sulfatase modifying factor 2".

[UniProt-7] "UniProt, Q8NBJ7" (jezik: engleski). Pristupljeno 29. 9. 2021.

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p r u Enzimi
Teme	Aktivno mjesto Alosterna regulacija Difuzijski limitirani enzim EC broj Enzimska kataliza Inhibicija enzimskih reakcija Kinetika enzima Koenzim Kooperativnost Lineweaver–Burkov dijagram Michaelis–Mentenova kinetika Mjesto vezanja Spisak enzima
Tipovi	EC1 Oksidoreduktaze/spisak EC2 Transferaze/spisak EC3 Hidrolaze/spisak EC4 Lijaze/spisak EC5 Izomeraze/spisak EC6 Ligaze/spisak