PRKCSH

PRKCSH
식별자
별칭	PRKCSH, AGE-R2, G19P1, PCLD, PKCSH, PLD1, GIIB, VASAP-60, 단백질 키나제 C 기질 80K-H, PCLD1
외부 ID	OMIM: 177060 MGI: 107877 HomoloGene: 2056 GeneCard: PRKCSH
유전자 위치(인간)
쳇.	19번 염색체(인간)
끝	11,450,968 bp
유전자 위치(마우스)
쳇.	9번 염색체(쥐)
끝	21,925,518 bp
RNA 표현 패턴
	표현된 상단
	척수; ; 림프절; ; 난소의; ; 후두엽; ; 시상하부;
	추가 참조 표현식 데이터
	; ;
	추가 참조 표현식 데이터
유전자 온톨로지
분자함수	칼슘 이온 결합; 인산단백질 결합; 투과형 트랜스포터 바인딩; 금속 이온 결합; 단백질 키나아제 C 결합; GO:0001948 단백질 결합;
셀룰러 컴포넌트	소포체 망막 내강; 세포내 해부학적 구조; 소포체성 망막; 글루코시다제2복합체; 세포내 막으로 둘러싸인 오르가넬;
생물학적 과정	N글리칸 가공; GO:0007243 세포내 신호 전달; 생식 후 단백질 수정; 세포 단백질 대사 과정; 단백질 접이식;
	출처:아미고 / 퀵고
직교체
	5589
	19089
	ENSG00000130175
	ENSMUSG00000003402
	P14314
	O08795
NM_001001329; NM_001289102; NM_001289103; NM_001289104; NM_002743;
	NM_001379608; NM_001379609
	NM_001293650; NM_001293651; NM_008925
NP_001001329; NP_001276031; NP_001276032; NP_001276033; NP_002734;
	NP_001366537; NP_001366538
	NP_001280579; NP_001280580; NP_032951
	위키다타
인간 보기/편집	마우스 보기/편집

글루코시다아제 2 서브유닛 베타(Glukosidase 2 subunit beta)는 인간에서 PRKCSH 유전자에 의해 암호화된 효소다.^[5]

이 유전자는 엔도플라스믹 레티쿨룸(ER)에서 N연계 글리칸 처리 효소인 글루코시다아제 II의 베타-분위기를 인코딩한다.이 단백질은 단백질 키나제 C의 기질로 알려진 산성 인산단백질이다.이 유전자의 돌연변이는 자가 우성 다낭성 간질환과 관련이 있다.또는 구별되는 ISO 양식을 인코딩하는 분할된 대본 변형이 관찰되었다.^[5]

참조

^ ^a ^b ^c GRCh38: 앙상블 릴리스 89: ENSG00000130175 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리스 89: ENSMUSG00000003402 - 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.
^ ^a ^b "Entrez Gene: PRKCSH protein kinase C substrate 80K-H".

추가 읽기

Thornalley PJ (1999). "Cell activation by glycated proteins. AGE receptors, receptor recognition factors and functional classification of AGEs". Cell. Mol. Biol. (Noisy-le-grand). 44 (7): 1013–23. PMID 9846883.
Lukàcs A (1978). "[Debate on prophylaxis]". Prevenzione Stomatologica. 1 (2): 43–7. PMID 1076483.
Hirai M, Shimizu N (1990). "Purification of two distinct proteins of approximate Mr 80,000 from human epithelial cells and identification as proper substrates for protein kinase C". Biochem. J. 270 (3): 583–9. doi:10.1042/bj2700583. PMC 1131772. PMID 2241894.
Sakai K, Hirai M, Minoshima S, et al. (1989). "Isolation of cDNAs encoding a substrate for protein kinase C: nucleotide sequence and chromosomal mapping of the gene for a human 80K protein". Genomics. 5 (2): 309–15. doi:10.1016/0888-7543(89)90063-3. PMID 2793184.
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.
Gress TM, Müller-Pillasch F, Geng M, et al. (1996). "A pancreatic cancer-specific expression profile". Oncogene. 13 (8): 1819–30. PMID 8895530.
Trombetta ES, Simons JF, Helenius A (1996). "Endoplasmic reticulum glucosidase II is composed of a catalytic subunit, conserved from yeast to mammals, and a tightly bound noncatalytic HDEL-containing subunit". J. Biol. Chem. 271 (44): 27509–16. doi:10.1074/jbc.271.44.27509. PMID 8910335.
Ophoff RA, Terwindt GM, Vergouwe MN, et al. (1997). "A 3-Mb region for the familial hemiplegic migraine locus on 19p13.1-p13.2: exclusion of PRKCSH as a candidate gene. Dutch Migraine Genetic Research Group". Eur. J. Hum. Genet. 4 (6): 321–8. PMID 9043864.
Arendt CW, Ostergaard HL (1997). "Identification of the CD45-associated 116-kDa and 80-kDa proteins as the alpha- and beta-subunits of alpha-glucosidase II". J. Biol. Chem. 272 (20): 13117–25. doi:10.1074/jbc.272.20.13117. PMID 9148925.
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.
Brûlé S, Rabahi F, Faure R, et al. (2000). "Vacuolar system-associated protein-60: a protein characterized from bovine granulosa and luteal cells that is associated with intracellular vesicles and related to human 80K-H and murine beta-glucosidase II". Biol. Reprod. 62 (3): 642–54. doi:10.1095/biolreprod62.3.642. PMID 10684806.
Arendt CW, Ostergaard HL (2000). "Two distinct domains of the beta-subunit of glucosidase II interact with the catalytic alpha-subunit". Glycobiology. 10 (5): 487–92. doi:10.1093/glycob/10.5.487. PMID 10764837.
Treml K, Meimaroglou D, Hentges A, Bause E (2000). "The alpha- and beta-subunits are required for expression of catalytic activity in the hetero-dimeric glucosidase II complex from human liver". Glycobiology. 10 (5): 493–502. doi:10.1093/glycob/10.5.493. PMID 10764838.
Pelletier MF, Marcil A, Sevigny G, et al. (2000). "The heterodimeric structure of glucosidase II is required for its activity, solubility, and localization in vivo". Glycobiology. 10 (8): 815–27. doi:10.1093/glycob/10.8.815. PMID 10929008.
Reynolds DM, Falk CT, Li A, et al. (2001). "Identification of a Locus for Autosomal Dominant Polycystic Liver Disease, on Chromosome 19p13.2-13.1". Am. J. Hum. Genet. 67 (6): 1598–604. doi:10.1086/316904. PMC 1287938. PMID 11047756.
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.
Li A, Davila S, Furu L, et al. (2003). "Mutations in PRKCSH Cause Isolated Autosomal Dominant Polycystic Liver Disease". Am. J. Hum. Genet. 72 (3): 691–703. doi:10.1086/368295. PMC 1180260. PMID 12529853.
Drenth JP, te Morsche RH, Smink R, et al. (2003). "Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease". Nat. Genet. 33 (3): 345–7. doi:10.1038/ng1104. PMID 12577059. S2CID 34672886.
Gevaert K, Goethals M, Martens L, et al. (2004). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nat. Biotechnol. 21 (5): 566–9. doi:10.1038/nbt810. PMID 12665801. S2CID 23783563.

19번 염색체의 유전자에 관한 이 기사는 단조롭다.위키피디아를 확장하여 도울 수 있다.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리스 89: ENSG00000130175 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리스 89: ENSMUSG00000003402 - 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.

[entrez-5] "Entrez Gene: PRKCSH protein kinase C substrate 80K-H".

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