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)[1] Bend 1p21.2 Početak 100,872,372 bp[1] Kraj 100,895,179 bp[1]
Lokacija gena (miš) Hrom. Hromosom 3 (miš)[2] Bend 3|3 G1 Početak 115,801,111 bp[2] Kraj 115,822,666 bp[2]
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
Vrste	Čovjek	Miš
Entrez	2135	58193
Ensembl	ENSG00000162694	ENSMUSG00000027963
UniProt	Q9UBQ6	Q9ES89
RefSeq (mRNK)	NM_001033025 NM_001261440 NM_001261441 NM_001261442 NM_001439	NM_001163514 NM_001163515 NM_021388
RefSeq (bjelančevina)	NP_001028197 NP_001248369 NP_001248370 NP_001248371 NP_001430	NP_001156986 NP_001156987 NP_067363
Lokacija (UCSC)	Chr 1: 100.87 – 100.9 Mb	Chr 3: 115.8 – 115.82 Mb
PubMed pretraga	[3]	[4]
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

1. GRCh38: Ensembl release 89: ENSG00000162694 - Ensembl, maj 2017
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.
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.
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.
7. "Entrez Gene: EXTL2 exostoses (multiple)-like 2".
8. "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