폼지1

폼지1
식별자
에일리어스	POMGNT1, GNT.2, GnTI.2, LGMD2O, MEB, MGAT1.2, gnT-I.2, 단백질 O결합 만노스N-아세틸글루코사미닐전달효소1(베타1,2-2), RP76, LGMDR15
외부 ID	OMIM : 606822 MGI : 1915523 HomoloGene : 9806 GenCard : POMGNT1
유전자 위치(인간)
크르.	1번 염색체(인간)
끝.	46,220,305 bp
유전자 위치(마우스)
크르.	4번 염색체(쥐)
끝.	116,017,046 bp
RNA발현패턴
	상단 표시 위치:
	뇌하수체 전엽; ; 좌심실; ; 갑상선 우엽; ; 갑상선 좌엽; ; 위근; ; 핵액컴벤스; ; 전전두피질; ; 우부신; ; 경골 신경; ; 미산핵;
	추가 참조 표현식 데이터
	추가 참조 표현식 데이터
유전자 존재론
분자 함수	트랜스페라아제 활성; GO:0001948, GO:0016582 단백질 결합; 글리코실전달효소활성; 베타-1,3-갈락토실-O-글리코실-글리코단백질β-1,3-N-아세틸글루코사미닐전달효소활성; 아세틸글루코사미닐전달효소활성; 망간 이온 결합; 금속 이온 결합;
셀룰러 컴포넌트	골지 장치; 막; 골지막; 막의 적분 성분; 골지막의 적분 성분;
생물학적 과정	GO:0033578, GO:0033577, GO:0033575, GO:0033576 단백질 글리코실화; 단백질 O결합 배당체화; O글리칸 처리;
	출처:아미고 / QuickGO
맞춤법
	55624
	68273
	ENSG000085998
	ENSMUSG000028700
	Q8WZA1
	Q91X88
	NM_001243766; NM_001290129; NM_001290130; NM_017739
	NM_001290658; NM_026651; NM_029786
	NP_001230695; NP_001277058; NP_001277059; NP_060209
	NP_001277587; NP_080927; NP_084062
	위키데이터
인간 보기/편집	마우스 표시/편집

단백질 O-연계만노스β-1,2-N-아세틸글루코사미닐전달효소1은 POMGNT1 ^[5]^[6]유전자에 의해 인체 내에서 암호화되는 효소이다.

함수 및 표현

POMGNT1 유전자의 산물인 단백질 O-만노스 베타-1,2-N-아세틸글루코사미닐전달효소(POMGnT1)는 O-만노실 글리칸 합성에 관여한다.이 유전자의 돌연변이는 근육-눈-뇌 질환의 원인이다.^[7]

POMGNT1 유전자의 전사는 골격근, 심장, 신장의 발현 수준이 높고 ^[8]뇌의 발현 수준이 낮은 다른 조직에서 2.7kb의 mRNA를 발생시킨다.POMGnT1(EC 2.4.1.101)은 탄수화물 활성 엔ZYMES(^[9]CAZY) 데이터베이스에 따르면 글리코실전달효소 GT13군에 속하는 단백질이다.사람의 경우, POMGnT1의 주요 아이소폼은 660개의 아미노산을 포함하고 있으며, 그 배열은 75,252Da의 분자량을 산출한다(UniProtKB Q8WZA1).

POMGNT1 mRNA와 그 암호화된 단백질은 연구된 모든 포유동물의 신경망막에서 발현된다.POMGnT1은 마우스 망막의 세포질 분획에 위치하고 광수용체 내부 ^[10]세그먼트의 근이이드 내의 골지 복합체에 집중됩니다.

레퍼런스

^ ^a ^b ^c GRCh38: 앙상블 릴리즈 89: ENSG000085998 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리즈 89: ENSMUSG000028700 - 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.
^ Zhang W, Betel D, Schachter H (January 2002). "Cloning and expression of a novel UDP-GlcNAc:alpha-D-mannoside beta1,2-N-acetylglucosaminyltransferase homologous to UDP-GlcNAc:alpha-3-D-mannoside beta1,2-N-acetylglucosaminyltransferase I". The Biochemical Journal. 361 (Pt 1): 153–62. doi:10.1042/0264-6021:3610153. PMC 1222290. PMID 11742540.
^ "Entrez Gene: POMGNT1 protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase".
^ "OMIM Entry - # 253280 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA3". www.omim.org. Retrieved 2016-04-26.
^ Yoshida A, Kobayashi K, Manya H, Taniguchi K, Kano H, Mizuno M, et al. (November 2001). "Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1". Developmental Cell. 1 (5): 717–24. doi:10.1016/s1534-5807(01)00070-3. PMID 11709191.
^ Lombard V, Golaconda Ramulu H, Drula E, Coutinho PM, Henrissat B (January 2014). "The carbohydrate-active enzymes database (CAZy) in 2013". Nucleic Acids Research. 42 (Database issue): D490-5. doi:10.1093/nar/gkt1178. PMC 3965031. PMID 24270786.
^ Uribe ML, Haro C, Ventero MP, Campello L, Cruces J, Martín-Nieto J (2016). "Expression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease". Molecular Vision. 22: 658–73. PMC 4911909. PMID 27375352.

추가 정보

Maruyama K, Sugano S (January 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, Suyama A, Sugano S (October 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.
Cormand B, Avela K, Pihko H, Santavuori P, Talim B, Topaloglu H, et al. (January 1999). "Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping". American Journal of Human Genetics. 64 (1): 126–35. doi:10.1086/302206. PMC 1377710. PMID 9915951.
Dias Neto E, Correa RG, Verjovski-Almeida S, Briones MR, Nagai MA, da Silva W, et al. (March 2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proceedings of the National Academy of Sciences of the United States of America. 97 (7): 3491–6. Bibcode:2000PNAS...97.3491D. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800.
Yoshida A, Kobayashi K, Manya H, Taniguchi K, Kano H, Mizuno M, et al. (November 2001). "Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1". Developmental Cell. 1 (5): 717–24. doi:10.1016/S1534-5807(01)00070-3. PMID 11709191.
Triki C, Louhichi N, Méziou M, Choyakh F, Kéchaou MS, Jlidi R, et al. (January 2003). "Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients". Neuromuscular Disorders. 13 (1): 4–12. doi:10.1016/S0960-8966(02)00188-8. PMID 12467726. S2CID 24406933.
Taniguchi K, Kobayashi K, Saito K, Yamanouchi H, Ohnuma A, Hayashi YK, et al. (March 2003). "Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease". Human Molecular Genetics. 12 (5): 527–34. doi:10.1093/hmg/ddg043. PMID 12588800.
Manya H, Sakai K, Kobayashi K, Taniguchi K, Kawakita M, Toda T, Endo T (June 2003). "Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease". Biochemical and Biophysical Research Communications. 306 (1): 93–7. doi:10.1016/S0006-291X(03)00924-0. PMID 12788071.
Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, et al. (October 2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Research. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
Akasaka-Manya K, Manya H, Kobayashi K, Toda T, Endo T (July 2004). "Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1". Biochemical and Biophysical Research Communications. 320 (1): 39–44. doi:10.1016/j.bbrc.2004.05.129. PMID 15207699.
Vervoort VS, Holden KR, Ukadike KC, Collins JS, Saul RA, Srivastava AK (July 2004). "POMGnT1 gene alterations in a family with neurological abnormalities". Annals of Neurology. 56 (1): 143–8. doi:10.1002/ana.20172. PMID 15236414. S2CID 40752220.
Diesen C, Saarinen A, Pihko H, Rosenlew C, Cormand B, Dobyns WB, et al. (October 2004). "POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease". Journal of Medical Genetics. 41 (10): e115. doi:10.1136/jmg.2004.020701. PMC 1735594. PMID 15466003.
Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, et al. (January 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
Abbott KL, Troupe K, Lee I, Pierce M (September 2006). "Integrin-dependent neuroblastoma cell adhesion and migration on laminin is regulated by expression levels of two enzymes in the O-mannosyl-linked glycosylation pathway, PomGnT1 and GnT-Vb". Experimental Cell Research. 312 (15): 2837–50. doi:10.1016/j.yexcr.2006.05.022. PMID 16857188.

외부 링크

선천성 근위축증에 대한 GeneReviews/NCBI/NIH/UW 엔트리 개요
PDB의 UniProt: Q8WZA1(단백질 O-연결-만노스 베타-1,2-N-아세틸글루코사미닐전달효소 1)에서 사용 가능한 모든 구조 정보의 개요.

인간 염색체 1번 유전자에 대한 이 기사는 뭉툭한 것이다.위키피디아를 확장함으로써 위키피디아를 도울 수 있습니다.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리즈 89: ENSG000085998 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리즈 89: ENSMUSG000028700 - 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.

[5] Zhang W, Betel D, Schachter H (January 2002). "Cloning and expression of a novel UDP-GlcNAc:alpha-D-mannoside beta1,2-N-acetylglucosaminyltransferase homologous to UDP-GlcNAc:alpha-3-D-mannoside beta1,2-N-acetylglucosaminyltransferase I". The Biochemical Journal. 361 (Pt 1): 153–62. doi:10.1042/0264-6021:3610153. PMC 1222290. PMID 11742540.

[entrez-6] "Entrez Gene: POMGNT1 protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase".

[meb-7] "OMIM Entry - # 253280 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA3". www.omim.org. Retrieved 2016-04-26.

[8] Yoshida A, Kobayashi K, Manya H, Taniguchi K, Kano H, Mizuno M, et al. (November 2001). "Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1". Developmental Cell. 1 (5): 717–24. doi:10.1016/s1534-5807(01)00070-3. PMID 11709191.

[9] Lombard V, Golaconda Ramulu H, Drula E, Coutinho PM, Henrissat B (January 2014). "The carbohydrate-active enzymes database (CAZy) in 2013". Nucleic Acids Research. 42 (Database issue): D490-5. doi:10.1093/nar/gkt1178. PMC 3965031. PMID 24270786.

[10] Uribe ML, Haro C, Ventero MP, Campello L, Cruces J, Martín-Nieto J (2016). "Expression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease". Molecular Vision. 22: 658–73. PMC 4911909. PMID 27375352.

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폼지1

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함수 및 표현

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