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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/11/07 22:02:49」(JST)

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Exostosin-1 is a protein that in humans is encoded by the EXT1 gene.^[1]

This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of Multiple Exostoses.^[1]

Interactions

EXT1 has been shown to interact with TRAP1.^[2]

References

^ ^a ^b "Entrez Gene: EXT1 exostoses (multiple) 1".
^ 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.

External links

Multiple Hereditary Exostoses Research Foundation

This article on a gene on human chromosome 8 is a stub. You can help Wikipedia by expanding it.

UpToDate Contents

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1. 軟骨肉腫 chondrosarcoma
2. 微細欠失症候群（1番～11番染色体） microdeletion syndromes chromosomes 1 to 11
3. 小児および思春期における良性骨腫瘍：概要 benign bone tumors in children and adolescents an overview

English Journal

Autism-like socio-communicative deficits and stereotypies in mice lacking heparan sulfate.

Irie F, Badie-Mahdavi H, Yamaguchi Y.SourceGenetic Disease Program, Sanford Children's Health Research Center, Sanford-Burnham Medical Research Institute, La Jolla, CA 92037.
Proceedings of the National Academy of Sciences of the United States of America.Proc Natl Acad Sci U S A.2012 Mar 27;109(13):5052-6. Epub 2012 Mar 12.
Heparan sulfate regulates diverse cell-surface signaling events, and its roles in the development of the nervous system recently have been increasingly uncovered by studies using genetic models carrying mutations of genes encoding enzymes for its synthesis. On the other hand, the role of heparan sul
PMID 22411800

Third case of 8q23.3-q24.13 deletion in a patient with Langer-Giedion syndrome phenotype without TRPS1 gene deletion.

Pereza N, Severinski S, Ostojić S, Volk M, Maver A, Dekanić KB, Kapović M, Peterlin B.SourceDepartment of Biology and Medical Genetics, Faculty of Medicine, University of Rijeka, Rijeka, Croatia. nina.pereza@xnet.hr
American journal of medical genetics. Part A.Am J Med Genet A.2012 Mar;158A(3):659-63. doi: 10.1002/ajmg.a.35201. Epub 2012 Feb 7.
Langer-Giedion syndrome (LGS) is a contiguous gene syndrome caused by a hemizygous deletion on chromosome 8q23.3-q24.11 involving TRPS1 and EXT1 genes. We report on a girl with LGS phenotype and a 7.5 Mb interstitial deletion at chromosome 8q23.3-q24.13. Array-comparative genomic hybridization (a-
PMID 22315192

Japanese Journal

Relative injectivity and flatness of complexes

Lu Bo,Liu Zhongkui
Kodai Mathematical Journal 36(2), 343-362, 2013
… A complex C is said to be FR-injective (resp., FR-flat) if Ext1(D,C) = 0 (resp., $\overline{Tor}1 (C,D) = 0) for any finitely represented complex D. …
NAID 130004687990

EXT1遺伝子変異を認めた下顎骨関節突起軟骨肉腫の1例

西裕美,太田耕司,島末洋 [他],小川郁子,東森秀年,鎌田伸之
日本口腔外科学会雑誌 58(6), 357-361, 2012-06-20
NAID 10031144905

Related Pictures

EXT1 - Trockentauchanzug aus Trilaminat Panels > Bosch AECAEC21EXT1 AEC-AEC21-EXT1 Industries VALVE MET EXT1-1/4NS 092795 Novel EXT1 mutation identified in a 1kg mod ext1 código de producto ext1 ext1

★リンクテーブル★

リンク元

「癌」

Exostosin glycosyltransferase 1
Identifiers
Symbols	EXT1 ; EXT; LGCR; LGS; TRPS2; TTV
External IDs	OMIM: 608177 MGI: 894663 HomoloGene: 30957 GeneCards: EXT1 Gene
EC number	2.4.1.224, 2.4.1.225
Gene ontology
Molecular function	• acetylglucosaminyltransferase activity; • glucuronosyltransferase activity; • transferase activity, transferring glycosyl groups; • heparan sulfate N-acetylglucosaminyltransferase activity; • protein homodimerization activity; • metal ion binding; • protein heterodimerization activity; • glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity; • N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity;
Cellular component	• Golgi membrane; • endoplasmic reticulum; • endoplasmic reticulum membrane; • Golgi apparatus; • integral component of membrane; • integral component of endoplasmic reticulum membrane;
Biological process	• skeletal system development; • ossification; • carbohydrate metabolic process; • glycosaminoglycan biosynthetic process; • protein glycosylation; • signal transduction; • gastrulation; • axon guidance; • endoderm development; • mesoderm development; • heparan sulfate proteoglycan biosynthetic process; • heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process; • olfactory bulb development; • glycosaminoglycan metabolic process; • cellular polysaccharide biosynthetic process; • small molecule metabolic process; • embryonic skeletal joint development;
	Sources: Amigo / QuickGO
RNA expression pattern
	More reference expression data
Orthologs
	v; t; e;

　　[★]

英: cancer
関: 悪性腫瘍

種類

癌腫(carcinoma):上皮性
肉腫(sarcoma):間葉系
carcinoma：腺癌(adenocarcinma)、扁平上皮癌(squamous cell carcinoma)、移行上皮癌(transitional cell carcinoma)
sarcoma：骨肉腫、横紋筋肉腫、平滑筋肉腫、脂肪肉腫、線維肉腫

Neoplasm	Causes	Effect
Small cell lung carcinoma	ACTH or ACTH-like peptide	Cushing’s syndrome
Small cell lung carcinoma and intracranial neoplasms	ADH	SIADH
Squamous cell lung carcinoma, renal cell carcinoma, breast carcinoma, multiple myeloma, and bone metastasis (lysed bone)	PTH-related peptide, TGF-β, TNF-α, IL-1	Hypercalcemia
Renal cell carcinoma, hemangioblastoma	Erythropoietin	Polycythemia
Thymoma, small cell lung carcinoma	Antibodies against presynaptic Ca2+ channels at neuromuscular junction	Lambert-Eaton syndrome (muscle weakness)
Leukemias and lymphomas	Hyperuricemia due to excess nucleic acid turnover (i.e., cytotoxic therapy)	Gout, urate nephropathy

最新癌統計

http://ganjoho.ncc.go.jp/public/statistics/pub/statistics01.html

●2005年の死亡数が多い部位は順に
	1位	2位	3位	4位	5位
男性	肺	胃	肝臓	結腸	膵臓	結腸と直腸を合わせた大腸は4位
女性	胃	肺	結腸	肝臓	乳房	結腸と直腸を合わせた大腸は1位
男女計	肺	胃	肝臓	結腸	膵臓	結腸と直腸を合わせた大腸は3位

●2001年の罹患数が多い部位は順に
	1位	2位	3位	4位	5位
男性	胃	肺	結腸	肝臓	前立腺	結腸と直腸を合わせた大腸は2位
女性	乳房*1	胃	結腸	子宮*1	肺	結腸と直腸を合わせた大腸は1位
男女計	胃	肺	結腸	乳房*1	肝臓	結腸と直腸を合わせた大腸は2位
*1上皮内がんを含む。

癌の素因となる遺伝子

HIM.494

Table 79-1 Cancer Predisposition Syndromes and Associated Genes
Syndrome	Gene	Chromosome	Inheritance	Tumors
ataxia telangiectasia	ATM	11q22-q23	AR	breast cancer
autoimmune lymphoproliferative syndrome	FAS	10q24	AD	lymphomas
autoimmune lymphoproliferative syndrome	FASL	1q23		lymphomas
Bloom syndrome	BLM	15q26.1	AR	cancer of all types
Cowden syndrome	PTEN	10q23	AD	breast, thyroid
familial adenomatous polyposis	APC	5q21	AD	intestinal adenoma, colorectal cancer
familial melanoma	p16INK4	9p21	AD	melanoma, pancreatic cancer
familial Wilms tumor	WT1	11p13	AD	pediatric kidney cancer
hereditary breast/ovarian cancer	BRCA1	17q21	AD	breast, ovarian, colon, prostate
hereditary breast/ovarian cancer	BRCA2	13q12.3		breast, ovarian, colon, prostate
hereditary diffuse gastric cancer	CDH1	16q22	AD	stomach cancers
hereditary multiple exostoses	EXT1	8q24	AD	exostoses, chondrosarcoma
hereditary multiple exostoses	EXT2	11p11-12		exostoses, chondrosarcoma
hereditary prostate cancer	HPC1	1q24-25	AD	prostate carcinoma
hereditary retinoblastoma	RB1	13q14.2	AD	retinoblastoma, osteosarcoma
hereditary nonpolyposis colon cancer (HNPCC)	MSH2	2p16	AD	colon, endometrial, ovarian, stomach, small bowel, ureter carcinoma
	MLH1	3p21.3
	MSH6	2p16
	PMS2	7p22
hereditary papillary renal carcinoma	MET	7q31	AD	papillary renal tumor
juvenile polyposis	SMAD4	18q21	AD	gastrointestinal, pancreatic cancers
Li-Fraumeni	TP53	17p13.1	AD	sarcoma, breast cancer
multiple endocrine neoplasia type 1	MEN1	11q13	AD	parathyroid, endocrine, pancreas, and pituitary
multiple endocrine neoplasia type 2a	RET	10q11.2	AD	medullary thyroid carcinoma, pheochromocytoma
neurofibromatosis type 1	NF1	17q11.2	AD	neurofibroma, neurofibrosarcoma, brain tumor
neurofibromatosis type 2	NF2	22q12.2	AD	vestibular schwannoma, meningioma, spine
nevoid basal cell carcinoma syndrome (Gorlin's syndrome)	PTCH	9q22.3	AD	basal cell carcinoma, medulloblastoma, jaw cysts
tuberous sclerosis	TSC1	9q34	AD	angiofibroma, renal angiomyolipoma
tuberous sclerosis	TSC2	16p13.3		angiofibroma, renal angiomyolipoma
von Hippel–Lindau	VHL	3p25-26	AD	kidney, cerebellum, pheochromocytoma

癌遺伝子、癌抑制遺伝子

癌の危険因子

生活習慣病#生活習慣病などのリスクファクターを改変

疾患		危険因子	防御因子
悪性腫瘍	胃癌	塩辛い食品、喫煙、くん製製品、ニトロソアミン土壌、腸上皮化生、Helicobacter pyroli	ビタミンC、野菜、果実
	食道癌	喫煙、飲酒、熱い飲食物	野菜、果実
	結腸癌	高脂肪食、肉食、低い身体活動、腸内細菌叢の変化、遺伝(家族性大腸腺腫症)
	肝癌	HBVキャリア・HCVキャリア、アフラトキシン、住血吸虫、飲酒
	肺癌	喫煙(特に扁平上皮癌)、大気汚染、職業的暴露(石綿(扁平上皮癌、悪性中皮腫)、クロム)	野菜、果実
	膵癌	高脂肪食、喫煙
	口腔癌	喫煙(口唇・舌-パイプ)、ビンロウ樹の実(口腔、舌)、飲酒
	咽頭癌	EBウイルス(上咽頭癌)、飲酒
	喉頭癌	喫煙、男性、アルコール
	乳癌	高年初産、乳癌の家族歴、肥満、未婚で妊娠回数少ない、無授乳、脂肪の過剰摂取、低年齢初経、高年齢閉経	母乳授乳
	子宮頚癌	初交年齢若い、早婚、多産、性交回数が多い(売春)、貧困、不潔]、HSV-2、HPV、流産、人工妊娠中絶回数が多い
	子宮体癌	肥満、糖尿病、ピル、エストロゲン常用、未婚、妊娠回数少ない、乳癌後のタモキシフエン内服
	膀胱癌	喫煙、鎮痛剤乱用、ビルハルツ住血吸虫、サッカリン、防腐剤
	皮膚癌	日光(紫外線)、ヒ素(Bowen病)
	白血病	放射線、ベンゼン、地域集積性(ATL)、ダウン症(小児白血病)
	骨腫瘍	電離放射線
	甲状腺癌	ヨード欠乏または過剰

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

[pmid10545594-2] 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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EXT1