B3GALNT1

B3GALNT1
식별자
에일리어스	B3GALNT1, B3GALT3, GLOB, Gb4Cer, P1, β3Gal-T3, galT3, β-1, 3-N-아세틸갈락토사미닐전달효소1(글로보사이드혈액형)
외부 ID	OMIM : 603094 MGI : 1349405 HomoloGene : 32457 GenCard : B3GALNT 1
유전자 위치(마우스)
크르.	3번 염색체(마우스)
끝.	69,506,293 bp
RNA발현패턴
	없음
	상단 표시 위치:
	흑색 실체; ; 중앙 융기; ; 쇄골상핵; ; 배내 시상하핵; ; 적란 세포; ; 호상핵; ; 정자 세포; ; 안면 운동핵; ; 복측 피개부; ; 작은 구멍;
	; ;
	추가 참조 표현식 데이터
유전자 존재론
분자 함수	트랜스페라아제 활성; 갈락토실전달효소활성; 글리코실전달효소활성; 갈락토실글루코실세라미드β-D-아세틸갈락토사미닐전달효소활성; UDP-갈락토스: 베타-N-아세틸글루코사민β-1,3-갈락토실전달효소활성; 아세틸갈락토사미닐전달효소활성;
셀룰러 컴포넌트	막의 적분 성분; 골지 장치; 막; 골지막; 소포체;
생물학적 과정	올리고당생합성법; 글리코스핑고지질대사과정; 단백질 글리코실화; 단백질N결합글리코실화;
	출처:아미고 / QuickGO
맞춤법
	8706
	26879
	ENSG00000169255
	ENSMUSG000043300
	O75752
	Q920V1
	NM_001038628; NM_003781; NM_033167; NM_033168; NM_033169
	NM_020026
NP_001033717; NP_003772; NP_149357; NP_149358; NP_149359;
	NP_001336059; NP_001336060; NP_001336061; NP_001336062; NP_001336063; NP_001336064; NP_001336065; NP_001336066; NP_001336067; NP_001336068; NP_001336069; NP_001336070; NP_001336071; NP_001336072; NP_001336073; NP_001336074; NP_001336075; NP_001336076; NP_001336077; NP_001336078; NP_001336079; NP_001336080; NP_001336081; NP_001336082; NP_001336083; NP_001336084; NP_001336085; NP_001336086; NP_001336087; NP_001336088; NP_001336089; NP_001336090; NP_001336091; NP_001336092
	NP_064410
	위키데이터
인간 보기/편집	마우스 표시/편집

UDP-GalNAc:beta-1,3-N-아세틸갈락토사미닐전달효소 1은 B3GALNT1 ^[4]^[5]^[6]유전자에 의해 인체 내에서 암호화되는 효소이다.

이 유전자는 베타-1,3-갈락토실전달효소(beta3GalT) 유전자군의 구성원이다.이 제품군은 서로 다른 공여 기질(UDP-갈락토스 및 UDP-N-아세틸갈락토사민)과 서로 다른 수용체 당(N-아세틸글루코사민, 갈락토스, N-아세틸갈락토사민)을 사용하여 다양한 효소 기능을 가진 II형 막 결합 당단백질을 코드한다.베타3GalT 유전자는 드로소필라 브레인악 유전자와 원거리적으로 관련이 있으며 단일 엑손에 포함된 단백질 코드 배열을 가지고 있다.베타3GalT 단백질은 또한 베타4GalT 또는 알파3GalT 단백질에서 발견되지 않는 보존 배열을 포함한다.이러한 효소에 의해 합성되는 탄수화물 사슬은 타입 1로 지정되며, 베타4GalT 효소는 타입 2 탄수화물 사슬을 합성한다.유형 1: 유형 2 사슬의 비율은 배아 발생 중에 변화합니다.배열 유사성에 의해 베타3GalT 유전자는 베타3GalT4와 다른 4개의 베타3GalT 유전자(베타3GalT1-3, 베타3GalT5)의 적어도 2개의 그룹으로 분류된다.이 유전자의 암호화된 단백질은 수용체 당으로 N-아세틸글루코사민을 전혀 사용하지 않는다.5' UTR에서 교대로 스플라이싱되는 다중 전사 변형이 설명되었으며, 모두 동일한 단백질을 ^[6]코드한다.

레퍼런스

^ ^a ^b ^c GRCm38: 앙상블 릴리즈 89: ENSMUSG000043300 - 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.
^ Amado M, Almeida R, Carneiro F, Levery SB, Holmes EH, Nomoto M, Hollingsworth MA, Hassan H, Schwientek T, Nielsen PA, Bennett EP, Clausen H (Jun 1998). "A family of human beta3-galactosyltransferases. Characterization of four members of a UDP-galactose:beta-N-acetyl-glucosamine/beta-nacetyl-galactosamine beta-1,3-galactosyltransferase family". J Biol Chem. 273 (21): 12770–8. doi:10.1074/jbc.273.21.12770. PMID 9582303.
^ Okajima T, Nakamura Y, Uchikawa M, Haslam DB, Numata SI, Furukawa K, Urano T, Furukawa K (Jan 2001). "Expression cloning of human globoside synthase cDNAs. Identification of beta 3Gal-T3 as UDP-N-acetylgalactosamine:globotriaosylceramide beta 1,3-N-acetylgalactosaminyltransferase". J Biol Chem. 275 (51): 40498–503. doi:10.1074/jbc.M006902200. PMID 10993897.
^ ^a ^b "Entrez Gene: B3GALNT1 beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)".

외부 링크

UCSC 게놈 브라우저의 인간 B3GALNT1 게놈 위치 및 B3GALNT1 유전자 세부 정보 페이지.

추가 정보

Amado M, Almeida R, Schwientek T, Clausen H (2000). "Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions". Biochim. Biophys. Acta. 1473 (1): 35–53. doi:10.1016/S0304-4165(99)00168-3. PMID 10580128.
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Kozarsky K, Penman M, Basiripour L, et al. (1989). "Glycosylation and processing of the human immunodeficiency virus type 1 envelope protein". J. Acquir. Immune Defic. Syndr. 2 (2): 163–9. PMID 2649653.
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Taniguchi N, Makita A (1984). "Purification and characterization of UDP-N-acetylgalactosamine: globotriaosylceramide beta-3-N-acetylgalactosaminyltransferase, a synthase of human blood group P antigen, from canine spleen". J. Biol. Chem. 259 (9): 5637–42. doi:10.1016/S0021-9258(18)91062-8. PMID 6425294.
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.
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Almeida R, Amado M, David L, et al. (1998). "A family of human beta4-galactosyltransferases. Cloning and expression of two novel UDP-galactose:beta-n-acetylglucosamine beta1, 4-galactosyltransferases, beta4Gal-T2 and beta4Gal-T3". J. Biol. Chem. 272 (51): 31979–91. doi:10.1074/jbc.272.51.31979. PMID 9405390.
Hellberg A, Poole J, Olsson ML (2002). "Molecular basis of the globoside-deficient P(k) blood group phenotype. Identification of four inactivating mutations in the UDP-N-acetylgalactosamine: globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase gene". J. Biol. Chem. 277 (33): 29455–9. doi:10.1074/jbc.M203047200. PMID 12023287.
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.
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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.
Hellberg A, Ringressi A, Yahalom V, et al. (2004). "Genetic heterogeneity at the glycosyltransferase loci underlying the GLOB blood group system and collection". Br. J. Haematol. 125 (4): 528–36. doi:10.1111/j.1365-2141.2004.04930.x. PMID 15142124. S2CID 7347691.
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Umeyama H, Iwadate M, Taguchi YH (2014). "TINAGL1 and B3GALNT1 are potential therapy target genes to suppress metastasis in non-small cell lung cancer". BMC Genomics. 15 (Suppl 9): S2. doi:10.1186/1471-2164-15-S9-S2. PMC 4290609. PMID 25521548.

인간 염색체 3번 유전자에 대한 이 기사는 뭉툭한 것이다.위키피디아를 확장함으로써 위키피디아를 도울 수 있습니다.

[refGRCm38Ensembl-1] GRCm38: 앙상블 릴리즈 89: ENSMUSG000043300 - 앙상블, 2017년 5월

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9582303-4] Amado M, Almeida R, Carneiro F, Levery SB, Holmes EH, Nomoto M, Hollingsworth MA, Hassan H, Schwientek T, Nielsen PA, Bennett EP, Clausen H (Jun 1998). "A family of human beta3-galactosyltransferases. Characterization of four members of a UDP-galactose:beta-N-acetyl-glucosamine/beta-nacetyl-galactosamine beta-1,3-galactosyltransferase family". J Biol Chem. 273 (21): 12770–8. doi:10.1074/jbc.273.21.12770. PMID 9582303.

[pmid10993897-5] Okajima T, Nakamura Y, Uchikawa M, Haslam DB, Numata SI, Furukawa K, Urano T, Furukawa K (Jan 2001). "Expression cloning of human globoside synthase cDNAs. Identification of beta 3Gal-T3 as UDP-N-acetylgalactosamine:globotriaosylceramide beta 1,3-N-acetylgalactosaminyltransferase". J Biol Chem. 275 (51): 40498–503. doi:10.1074/jbc.M006902200. PMID 10993897.

[entrez-6] "Entrez Gene: B3GALNT1 beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)".

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B3GALNT1

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