EXTL2

EXTL2
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	1OMX, 1OMZ, 1ON6, 1ON8
Identifikatori
Aliasi	EXTL2
Vanjski ID-jevi	OMIM: 602411 MGI: 1889574 HomoloGene: 1102 GeneCards: EXTL2
Lokacija gena (čovjek)
Hrom.	Hromosom 1 (čovjek)
Kraj	100,895,179 bp
Lokacija gena (miš)
Hrom.	Hromosom 3 (miš)
Kraj	115,822,666 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• aktivnost sa transferazom; • glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity; • vezivanje iona metala; • glycosyltransferase activity; • glycosaminoglycan binding; • manganese ion binding; • alpha-1,4-N-acetylgalactosaminyltransferase activity; • glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity;
Ćelijska komponenta	• integral component of membrane; • extracellular region; • Endoplazmatski retikulum; • membrana; • endoplasmic reticulum membrane;
Biološki proces	• heparan sulfate proteoglycan biosynthetic process; • N-acetylglucosamine metabolic process; • UDP-N-acetylgalactosamine metabolic process; • IRE1-mediated unfolded protein response; • GO:0033578, GO:0033577, GO:0033575, GO:0033576 protein glycosylation;
	Izvori:Amigo / QuickGO
Ortolozi
	2135
	58193
	ENSG00000162694
	ENSMUSG00000027963
	Q9UBQ6
	Q9ES89
	NM_001033025; NM_001261440; NM_001261441; NM_001261442; NM_001439
	NM_001163514; NM_001163515; NM_021388
	NP_001028197; NP_001248369; NP_001248370; NP_001248371; NP_001430
	NP_001156986; NP_001156987; NP_067363
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Egzostozinoliki protein 2 jest protein koji je kod ljudi kodiran genom EXTL2 sa hromosoma 1.^[5]^[6]^[7]

Amiokiselininska sekvenca

Dužina polipeptidnog lanca je 330 aminokiselina, a molekulska težina 37.466 Da.^[8]

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
MRCCHICKLP	GRVMGIRVLR	LSLVVILVLL	LVAGALTALL	PSVKEDKMLM
LRREIKSQGK	STMDSFTLIM	QTYNRTDLLL	KLLNHYQAVP	NLHKVIVVWN
NIGEKAPDEL	WNSLGPHPIP	VIFKQQTANR	MRNRLQVFPE	LETNAVLMVD
DDTLISTPDL	VFAFSVWQQF	PDQIVGFVPR	KHVSTSSGIY	SYGSFEMQAP
GSGNGDQYSM	VLIGASFFNS	KYLELFQRQP	AAVHALIDDT	QNCDDIAMNF
IIAKHIGKTS	GIFVKPVNMD	NLEKETNSGY	SGMWHRAEHA	LQRSYCINKL
VNIYDSMPLR	YSNIMISQFG	FPYANYKRKI

Funkcija

EXTL2 glikoziltransferaza potrebna je za biosintezu heparan-sulfata i odgovorna je za naizmjenično dodavanje beta-1-4-vezane glukuronske kiseline (GlcA) i alfa-1-4-vezanih N-acetilglukozamin (GlcNAc) jedinica u nastajajuće heparan-sulfatne lance. (https://www.phosphosite.org/overviewExecuteAction?id=5020882)

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000162694 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000027963 - 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.
^ Wuyts W, Van Hul W, Hendrickx J, Speleman F, Wauters J, De Boulle K, Van Roy N, Van Agtmael T, Bossuyt P, Willems PJ (Mar 1998). "Identification and characterization of a novel member of the EXT gene family, EXTL2". Eur J Hum Genet. 5 (6): 382–9. doi:10.1159/000484796. PMID 9450183.
^ Sobhany M, Dong J, Negishi M (Jun 2005). "Two-step mechanism that determines the donor binding specificity of human UDP-N-acetylhexosaminyltransferase". J Biol Chem. 280 (25): 23441–5. doi:10.1074/jbc.M413379200. PMID 15831490.
^ "Entrez Gene: EXTL2 exostoses (multiple)-like 2".
^ "UniProt, Q9UBQ6" (jezik: engleski). Pristupljeno 25. 11. 2021.

Dopunska literatura

Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
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.
McCormick C, Duncan G, Goutsos KT, Tufaro F (2000). "The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate". Proc. Natl. Acad. Sci. U.S.A. 97 (2): 668–73. Bibcode:2000PNAS...97..668M. doi:10.1073/pnas.97.2.668. PMC 15388. PMID 10639137.
Kitagawa H, Shimakawa H, Sugahara K (1999). "The tumor suppressor EXT-like gene EXTL2 encodes an alpha1, 4-N-acetylhexosaminyltransferase that transfers N-acetylgalactosamine and N-acetylglucosamine to the common glycosaminoglycan-protein linkage region. The key enzyme for the chain initiation of heparan sulfate". J. Biol. Chem. 274 (20): 13933–7. doi:10.1074/jbc.274.20.13933. PMID 10318803.
Saito T, Seki N, Yamauchi M, et al. (1998). "Structure, chromosomal location, and expression profile of EXTR1 and EXTR2, new members of the multiple exostoses gene family". Biochem. Biophys. Res. Commun. 243 (1): 61–6. doi:10.1006/bbrc.1997.8062. PMID 9473480.
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.

Vanjski linkovi

PDBe-KB provides an overview of all the structure information available in the PDB for Mouse Exostosin-like 2

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000162694 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000027963 - 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.

[pmid9450183-5] Wuyts W, Van Hul W, Hendrickx J, Speleman F, Wauters J, De Boulle K, Van Roy N, Van Agtmael T, Bossuyt P, Willems PJ (Mar 1998). "Identification and characterization of a novel member of the EXT gene family, EXTL2". Eur J Hum Genet. 5 (6): 382–9. doi:10.1159/000484796. PMID 9450183.

[pmid15831490-6] Sobhany M, Dong J, Negishi M (Jun 2005). "Two-step mechanism that determines the donor binding specificity of human UDP-N-acetylhexosaminyltransferase". J Biol Chem. 280 (25): 23441–5. doi:10.1074/jbc.M413379200. PMID 15831490.

[entrez-7] "Entrez Gene: EXTL2 exostoses (multiple)-like 2".

[UniProt-8] "UniProt, Q9UBQ6" (jezik: engleski). Pristupljeno 25. 11. 2021.

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