EXT1

EXT1
Identifikatori
Aliasi	EXT1
Vanjski ID-jevi	OMIM: 608177 MGI: 894663 HomoloGene: 30957 GeneCards: EXT1
Lokacija gena (čovjek) Hrom. Hromosom 8 (čovjek)[1] Bend 8q24.11 Početak 117,794,490 bp[1] Kraj 118,111,826 bp[1]
Lokacija gena (miš) Hrom. Hromosom 15 (miš)[2] Bend 15 C|15 20.0 cM Početak 52,927,434 bp[2] Kraj 53,209,555 bp[2]
Obrazac RNK ekspresije Više referentnih podataka o ekspresiji
Ontologija gena Molekularna funkcija • aktivnost sa transferazom • heparan sulfate N-acetylglucosaminyltransferase activity • acetylglucosaminyltransferase activity • protein homodimerization activity • glycosyltransferase activity • N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity • glucuronosyltransferase activity • glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity • vezivanje iona metala • protein heterodimerization activity Ćelijska komponenta • integral component of membrane • Golđijev aparat • endoplasmic reticulum membrane • membrana • Golđijeva membrana • integral component of endoplasmic reticulum membrane • Endoplazmatski retikulum Biološki proces • skeletal system development • heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process • endoderm development • embryonic skeletal joint development • ossification • heparan sulfate proteoglycan biosynthetic process • axon guidance • GO:0033578, GO:0033577, GO:0033575, GO:0033576 protein glycosylation • brain development • Gastrulacija • olfactory bulb development • mesoderm development • cellular polysaccharide biosynthetic process • GO:0072468 Transdukcija signala • glycosaminoglycan biosynthetic process Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	2131	14042
Ensembl	ENSG00000182197	ENSMUSG00000061731
UniProt	Q16394	P97464
RefSeq (mRNK)	NM_000127	NM_010162
RefSeq (bjelančevina)	NP_000118	NP_034292
Lokacija (UCSC)	Chr 8: 117.79 – 118.11 Mb	Chr 15: 52.93 – 53.21 Mb
PubMed pretraga	[3]	[4]
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Egzostozin-1 je protein koji je kod ljudi kodiran genom EXT1.^[5]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 746 aminokiselina, а molekulska težina 86.255 Da.^[6]

• 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
MQAKKRYFIL		LSAGSCLALL		FYFGGLQFRA		SRSHSRREEH		SGRNGLHHPS
PDHFWPRFPD		ALRPFVPWDQ		LENEDSSVHI		SPRQKRDANS		SIYKGKKCRM
ESCFDFTLCK		KNGFKVYVYP		QQKGEKIAES		YQNILAAIEG		SRFYTSDPSQ
ACLFVLSLDT		LDRDQLSPQY		VHNLRSKVQS		LHLWNNGRNH		LIFNLYSGTW
PDYTEDVGFD		IGQAMLAKAS		ISTENFRPNF		DVSIPLFSKD		HPRTGGERGF
LKFNTIPPLR		KYMLVFKGKR		YLTGIGSDTR		NALYHVHNGE		DVVLLTTCKH
GKDWQKHKDS		RCDRDNTEYE		KYDYREMLHN		ATFCLVPRGR		RLGSFRFLEA
LQAACVPVML		SNGWELPFSE		VINWNQAAVI		GDERLLLQIP		STIRSIHQDK
ILALRQQTQF		LWEAYFSSVE		KIVLTTLEII		QDRIFKHISR		NSLIWNKHPG
GLFVLPQYSS		YLGDFPYYYA		NLGLKPPSKF		TAVIHAVTPL		VSQSQPVLKL
LVAAAKSQYC		AQIIVLWNCD		KPLPAKHRWP		ATAVPVVVIE		GESKVMSSRF
LPYDNIITDA		VLSLDEDTVL		STTEVDFAFT		VWQSFPERIV		GYPARSHFWD
NSKERWGYTS		KWTNDYSMVL		TGAAIYHKYY		HYLYSHYLPA		SLKNMVDQLA
NCEDILMNFL		VSAVTKLPPI		KVTQKKQYKE		TMMGQTSRAS		RWADPDHFAQ
RQSCMNTFAS		WFGYMPLIHS		QMRLDPVLFK		DQVSILRKKY		RDIERL

Funkcija

Ovaj gen kodira jedan od dva endoplazmatskoretikulimska rezidentna transmembranska tipa II glikoziltransferaza – drugi je EXT2 – koji su uključeni u korak biosinteze elongacije lanca heparan-sulfata. Mutacije u ovom genu uzrokuju oblik I tipa višestruke egzostoze.^[5]

Interakcije

Pokazano je da EXT1 stupa u interakciju sa TRAP1.^[7]

Također pogledajte

• Langer-Giedionov sindrom
• Nasljedna multipla egzostoza tip 1

Reference

1. GRCh38: Ensembl release 89: ENSG00000182197 - Ensembl, maj 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000061731 - 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. "Entrez Gene: EXT1 exostoses (multiple) 1".
6. "UniProt, Q16394" (jezik: engleski). Pristupljeno 20. 9. 2021.
7. Simmons, A D; Musy M M; Lopes C S; Hwang L Y; Yang Y P; Lovett M (Nov 1999). "A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses". Hum. Mol. Genet. ENGLAND. 8 (12): 2155–64. doi:10.1093/hmg/8.12.2155. ISSN 0964-6906. PMID 10545594.

Dopunska literatura

• Wuyts W, Van Hul W (2000). "Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes". Hum. Mutat. 15 (3): 220–7. doi:10.1002/(SICI)1098-1004(200003)15:3<220::AID-HUMU2>3.0.CO;2-K. PMID 10679937.
• Duncan G, McCormick C, Tufaro F (2001). "The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins". J. Clin. Invest. 108 (4): 511–6. doi:10.1172/JCI13737. PMC 209410. PMID 11518722.
• Ogle RF, Dalzell P, Turner G, et al. (1992). "Multiple exostoses in a patient with t(8;11)(q24.11;p15.5)". J. Med. Genet. 28 (12): 881–3. doi:10.1136/jmg.28.12.881. PMC 1017169. PMID 1757967.
• Ahn J, Lüdecke HJ, Lindow S, et al. (1995). "Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)". Nat. Genet. 11 (2): 137–43. doi:10.1038/ng1095-137. PMID 7550340. S2CID 39272385.
• Cook A, Raskind W, Blanton SH, et al. (1993). "Genetic heterogeneity in families with hereditary multiple exostoses". Am. J. Hum. Genet. 53 (1): 71–9. PMC 1682231. PMID 8317501.
• Hou J, Parrish J, Lüdecke HJ, et al. (1996). "A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1)". Genomics. 29 (1): 87–97. doi:10.1006/geno.1995.1218. PMID 8530105.
• Hecht JT, Hogue D, Wang Y, et al. (1997). "Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies". Am. J. Hum. Genet. 60 (1): 80–6. PMC 1712567. PMID 8981950.
• Lüdecke HJ, Ahn J, Lin X, et al. (1997). "Genomic organization and promoter structure of the human EXT1 gene". Genomics. 40 (2): 351–4. doi:10.1006/geno.1996.4577. PMID 9119404.
• Philippe C, Porter DE, Emerton ME, et al. (1997). "Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses". Am. J. Hum. Genet. 61 (3): 520–8. doi:10.1086/515505. PMC 1715939. PMID 9326317.
• Wuyts W, Van Hul W, De Boulle K, et al. (1998). "Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses". Am. J. Hum. Genet. 62 (2): 346–54. doi:10.1086/301726. PMC 1376901. PMID 9463333.
• Raskind WH, Conrad EU, Matsushita M, et al. (1998). "Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses". Hum. Mutat. 11 (3): 231–9. doi:10.1002/(SICI)1098-1004(1998)11:3<231::AID-HUMU8>3.0.CO;2-K. PMID 9521425.
• McCormick C, Leduc Y, Martindale D, et al. (1998). "The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate". Nat. Genet. 19 (2): 158–61. doi:10.1038/514. PMID 9620772. S2CID 25832441.
• Lin X, Gan L, Klein WH, Wells D (1998). "Expression and functional analysis of mouse EXT1, a homolog of the human multiple exostoses type 1 gene". Biochem. Biophys. Res. Commun. 248 (3): 738–43. doi:10.1006/bbrc.1998.9050. PMID 9703997.
• Lind T, Tufaro F, McCormick C, et al. (1998). "The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate". J. Biol. Chem. 273 (41): 26265–8. doi:10.1074/jbc.273.41.26265. PMID 9756849.
• Bovée JV, Cleton-Jansen AM, Wuyts W, et al. (1999). "EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas". Am. J. Hum. Genet. 65 (3): 689–98. doi:10.1086/302532. PMC 1377975. PMID 10441575.
• Xu L, Xia J, Jiang H, et al. (1999). "Mutation analysis of hereditary multiple exostoses in the Chinese". Hum. Genet. 105 (1–2): 45–50. doi:10.1007/s004390051062. PMID 10480354.
• Simmons AD, Musy MM, Lopes CS, et al. (1999). "A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses". Hum. Mol. Genet. 8 (12): 2155–64. doi:10.1093/hmg/8.12.2155. PMID 10545594.
• 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.
• Kobayashi S, Morimoto K, Shimizu T, et al. (2000). "Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus". Biochem. Biophys. Res. Commun. 268 (3): 860–7. doi:10.1006/bbrc.2000.2219. PMID 10679296.

Vanjski linkovi

• Multiple Hereditary Exostoses Research Foundation

Šablon:Enzimi metabolizma glikozaminoglikana