EXT1

EXT1
Identifikatori
Aliasi	EXT1
Vanjski ID-jevi	OMIM: 608177 MGI: 894663 HomoloGene: 30957 GeneCards: EXT1
Lokacija gena (čovjek)
Hrom.	Hromosom 8 (čovjek)
Kraj	118,111,826 bp
Lokacija gena (miš)
Hrom.	Hromosom 15 (miš)
Kraj	53,209,555 bp
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
	2131
	14042
	ENSG00000182197
	ENSMUSG00000061731
	Q16394
	P97464
	NM_000127
	NM_010162
	NP_000118
	NP_034292
	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

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000182197 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000061731 - 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.
^ ^a ^b "Entrez Gene: EXT1 exostoses (multiple) 1".
^ "UniProt, Q16394" (jezik: engleski). Pristupljeno 20. 9. 2021.
^ 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

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000182197 - Ensembl, maj 2017

[refGRCm38Ensembl-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.

[entrez-5] "Entrez Gene: EXT1 exostoses (multiple) 1".

[UniProt-6] "UniProt, Q16394" (jezik: engleski). Pristupljeno 20. 9. 2021.

[pmid10545594-7] 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.

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