UBIAD1

UBIAD1
식별자
별칭	1을 포함하는 UBIAD1, SCCD, TERE1, UbiA 혼전송효소 도메인
외부 ID	OMIM: 611632 MGI: 1918957 HomoloGene: 8336 GeneCard:UBIAD1
유전자 위치(인간)
쳇.	염색체 1 (인간)
끝	11,296,049 bp
유전자 위치(마우스)
쳇.	4번 염색체(쥐)
끝	148,529,192 bp
RNA 표현 패턴
	표현된 상단
	피부 영역; ; 다리 근육; ; 위두근; ; 외음부; ; 뱃속; ; 간; ; 좌관상동맥;
	추가 참조 표현식 데이터
	추가 참조 표현식 데이터
유전자 온톨로지
분자함수	전이효소 활동; 항산화 활성; GO:0001948 단백질 결합; 태아전환 활동; transferase activity, alkyl 또는 aryl(메틸 제외) 그룹 전송;
셀룰러 컴포넌트	세포질; 막의 적분 성분; 골지막의 적분 성분; 골지 기구; 소포체 망막; 막으로 막다; 미토콘드리아 막; 골지막; 소포체성 망막; 미토콘드리온; 핵의;
생물학적 과정	메나퀴논 생합성 과정; 유비퀴니온 생합성 과정; 비타민 K 생합성 과정; 비타민 K 대사 과정; 세포 산화제 해독; 3,4-디하이드록시-5-162-페르넬벤조이트를 통한 유비쿼시논 생합성 공정;
	출처:아미고 / 퀵고
직교체
	29914
	71707
	ENSG00000120942
	ENSMUSG00000047719
	Q9Y5Z9
	Q9DC60
	NM_013319; NM_001330349; NM_001330350
	NM_027873
	NP_001317278; NP_001317279; NP_037451
	NP_082149
	위키다타
인간 보기/편집	마우스 보기/편집

전이성 상피 반응 단백질 1(TERE1)로도 알려진 UubiA 혼전효소 도메인 함유 단백질 1(UBIAD1)은 인간에서 UBIAD1 유전자에 의해 인코딩되는 단백질이다.^[5]^[6]^[7]

이 효소는 유비쿼시노네 생산에서 표준적인 역할을 하기 때문에 이름이 붙여졌다.최근의 증거는 ubiad1이 혈관 발달의 역할인 비타민 K 경로에 효소 활성을 가지고 있으며 산화 스트레스 경로에 관여할 수 있다는 것을 시사한다.^[8]^[9]^[10]

임상적 유의성

UBIAD1 유전자의 돌연변이는 슈나이더 결정 각막변이를 일으킨다.^[11]^[12]>^[13]

참조

^ ^a ^b ^c GRCh38: 앙상블 릴리스 89: ENSG00000120942 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리스 89: ENSMUSG000047719 - 앙상블, 2017년 5월
^ "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.
^ McGarvey TW, Nguyen T, Puthiyaveettil R, Tomaszewski JE, Malkowicz SB (Dec 2002). "TERE1, a novel gene affecting growth regulation in prostate carcinoma". Prostate. 54 (2): 144–55. doi:10.1002/pros.10174. PMID 12497587. S2CID 12942882.
^ McGarvey TW, Nguyen T, Tomaszewski JE, Monson FC, Malkowicz SB (Apr 2001). "Isolation and characterization of the TERE1 gene, a gene down-regulated in transitional cell carcinoma of the bladder". Oncogene. 20 (9): 1042–51. doi:10.1038/sj.onc.1204143. PMID 11314041.
^ "Entrez Gene: UBIAD1 UbiA prenyltransferase domain containing 1".
^ Nakagawa K, Hirota Y, Sawada N, Yuge N, Watanabe M, Uchino Y, Okuda N, Shimomura Y, Suhara Y, Okano T (November 2010). "Identification of UBIAD1 as a novel human menaquinone-4 biosynthetic enzyme". Nature. 468 (7320): 117–21. Bibcode:2010Natur.468..117N. doi:10.1038/nature09464. PMID 20953171. S2CID 9385489.
^ Fredericks WJ, McGarvey T, Wang H, Lal P, Puthiyaveettil R, Tomaszewski J, Sepulveda J, Labelle E, Weiss JS, Nickerson ML, Kruth HS, Brandt W, Wessjohann LA, Malkowicz SB (November 2011). "The bladder tumor suppressor protein TERE1 (UBIAD1) modulates cell cholesterol: implications for tumor progression". DNA Cell Biol. 30 (11): 851–64. doi:10.1089/dna.2011.1315. PMC 3206744. PMID 21740188.
^ Zebrafish, igitur-archive.library.uu.nl/dissertations/2008-0522에서 R 포스트el, Reverse and Forward Genetics에 의한 소설 유전자의 식별 및 특성화.../UUUindex.html, 2008.
^ Weiss JS, Kruth HS, Kuivaniemi H, Tromp G, White PS, Winters RS, Lisch W, Henn W, Denninger E, Krause M, Wasson P, Ebenezer N, Mahurkar S, Nickerson ML (November 2007). "Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy". Invest. Ophthalmol. Vis. Sci. 48 (11): 5007–12. doi:10.1167/iovs.07-0845. PMID 17962451.
^ Orr A, Dubé MP, Marcadier J, Jiang H, Federico A, George S, et al. (August 2007). "Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy". PLOS ONE. 2 (8): e685. Bibcode:2007PLoSO...2..685O. doi:10.1371/journal.pone.0000685. PMC 1925147. PMID 17668063.
^ Weiss JS, Kruth HS, Kuivaniemi H, Tromp G, Karkera J, Mahurkar S, Lisch W, Dupps WJ, White PS, Winters RS, Kim C, Rapuano CJ, Sutphin J, Reidy J, Hu FR, Lu da W, Ebenezer N, Nickerson ML (February 2008). "Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function". Am. J. Med. Genet. A. 146 (3): 271–83. doi:10.1002/ajmg.a.32201. PMID 18176953. S2CID 24627267.

추가 읽기

Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
McGarvey TW, Nguyen TB, Malkowicz SB (2005). "An interaction between apolipoprotein E and TERE1 with a possible association with bladder tumor formation". J. Cell. Biochem. 95 (2): 419–28. doi:10.1002/jcb.20432. PMID 15782423. S2CID 43563999.
Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743.
Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. Bibcode:2006Natur.441..315G. doi:10.1038/nature04727. PMID 16710414.
Yellore VS, Khan MA, Bourla N, et al. (2007). "Identification of mutations in UBIAD1 following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophy". Mol. Vis. 13: 1777–82. PMID 17960116.

인간 염색체 1번 유전자에 관한 이 기사는 단조롭다.위키피디아를 확장하여 도울 수 있다.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리스 89: ENSG00000120942 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리스 89: ENSMUSG000047719 - 앙상블, 2017년 5월

[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.

[pmid12497587-5] McGarvey TW, Nguyen T, Puthiyaveettil R, Tomaszewski JE, Malkowicz SB (Dec 2002). "TERE1, a novel gene affecting growth regulation in prostate carcinoma". Prostate. 54 (2): 144–55. doi:10.1002/pros.10174. PMID 12497587. S2CID 12942882.

[pmid11314041-6] McGarvey TW, Nguyen T, Tomaszewski JE, Monson FC, Malkowicz SB (Apr 2001). "Isolation and characterization of the TERE1 gene, a gene down-regulated in transitional cell carcinoma of the bladder". Oncogene. 20 (9): 1042–51. doi:10.1038/sj.onc.1204143. PMID 11314041.

[entrez-7] "Entrez Gene: UBIAD1 UbiA prenyltransferase domain containing 1".

[pmid20953171-8] Nakagawa K, Hirota Y, Sawada N, Yuge N, Watanabe M, Uchino Y, Okuda N, Shimomura Y, Suhara Y, Okano T (November 2010). "Identification of UBIAD1 as a novel human menaquinone-4 biosynthetic enzyme". Nature. 468 (7320): 117–21. Bibcode:2010Natur.468..117N. doi:10.1038/nature09464. PMID 20953171. S2CID 9385489.

[pmid21740188-9] Fredericks WJ, McGarvey T, Wang H, Lal P, Puthiyaveettil R, Tomaszewski J, Sepulveda J, Labelle E, Weiss JS, Nickerson ML, Kruth HS, Brandt W, Wessjohann LA, Malkowicz SB (November 2011). "The bladder tumor suppressor protein TERE1 (UBIAD1) modulates cell cholesterol: implications for tumor progression". DNA Cell Biol. 30 (11): 851–64. doi:10.1089/dna.2011.1315. PMC 3206744. PMID 21740188.

[10] Zebrafish, igitur-archive.library.uu.nl/dissertations/2008-0522에서 R 포스트el, Reverse and Forward Genetics에 의한 소설 유전자의 식별 및 특성화.../UUUindex.html, 2008.

[pmid17962451-11] Weiss JS, Kruth HS, Kuivaniemi H, Tromp G, White PS, Winters RS, Lisch W, Henn W, Denninger E, Krause M, Wasson P, Ebenezer N, Mahurkar S, Nickerson ML (November 2007). "Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy". Invest. Ophthalmol. Vis. Sci. 48 (11): 5007–12. doi:10.1167/iovs.07-0845. PMID 17962451.

[pmid17668063-12] Orr A, Dubé MP, Marcadier J, Jiang H, Federico A, George S, et al. (August 2007). "Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy". PLOS ONE. 2 (8): e685. Bibcode:2007PLoSO...2..685O. doi:10.1371/journal.pone.0000685. PMC 1925147. PMID 17668063.

[pmid18176953-13] Weiss JS, Kruth HS, Kuivaniemi H, Tromp G, Karkera J, Mahurkar S, Lisch W, Dupps WJ, White PS, Winters RS, Kim C, Rapuano CJ, Sutphin J, Reidy J, Hu FR, Lu da W, Ebenezer N, Nickerson ML (February 2008). "Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function". Am. J. Med. Genet. A. 146 (3): 271–83. doi:10.1002/ajmg.a.32201. PMID 18176953. S2CID 24627267.

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UBIAD1

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임상적 유의성

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