프리카르1A

프리카르1A
식별자
별칭	PRKAR1A, ACRDYS1, ADOHR, CAR, CNC, CNC1, PKR1, PPNAD1, PRKAR1, TSE1, 단백질 키나아제 cAMP 의존성 타입 I 규제 하위단위 알파
외부 ID	OMIM: 188830 MGI: 104878 호몰로진: 37664 GeneCard: PRKAR1A
유전자 위치(인간)
쳇.	17번 염색체(인간)
끝	68,551,319 bp
유전자 위치(마우스)
쳇.	11번 염색체(쥐)
끝	109,1992,482 bp
RNA 표현 패턴
	표현된 상단
	흑인의 실체; ; 제르미날 상피; ; 폐상엽; ; 자궁내막; ; 비탈사핵; ; 콩팥을; ; 좌심실;
	추가 참조 표현식 데이터
	; ; ; ;
	추가 참조 표현식 데이터
유전자 온톨로지
분자함수	뉴클레오티드 결합; 단백질 키나제 A 촉매 서브 유닛 결합; cAMP 바인딩; GO:0001948 단백질 결합; cAMP 의존성 단백질 키나아제 조절기 활동; cAMP 의존성 단백질 키나아제 억제제 활성; 유비퀴틴 단백질 리가제 결합; 단백질 영역별 결합; 3',5'-순환-GMP 인광체테라제; 키나제 활동;
셀룰러 컴포넌트	세포질; 시토솔; 막으로 막다; 플라즈마 막 뗏목; 신경근 접합; 플라즈마 막; 담도 염기; 뉴클레오티드활성화단백질키나아제복합체; 면역 시냅스; cAMP 의존성 단백질 키나아제 복합체; GO:0035085 액소네임; 단백질 함유 복합체; 시냅스; 글루타마테라믹 시냅스;
생물학적 과정	단백질 인산화 규제; 단백질 키나아제의 활성화 A 활동; GO:0007243 세포내 신호 전달; 단백질 키나아제 활동에 대한 부정적인 규제; RNA 중합효소 II에 의한 전사 조절; 글루카곤 자극에 대한 세포 반응; 중층 형성; 혈액 응고; 여성 감수 분열; 감수 분열에 대한 부정적 규제; 심장 근육 세포 증식; cAMP 의존성 단백질 키나아제 활성의 음성 조절; 활성화된 T세포 증식에 대한 부정적인 규제; 심장 발육; 신장수상동맥류.; 단백질 키나아제 활성 조절; 사커 조직; cGMP 매개 신호; 인산화;
	출처:아미고 / 퀵고
직교체
	5573
	19084
	ENSG00000108946
	ENSMUSG00000020612
	P10644
	Q9DBC7
NM_001276289; NM_001276290; NM_001278433; NM_002734; NM_212471;
	NM_212472; NM_001369389; NM_001369390
NM_021880; NM_001313973; NM_0013974; NM_0013975; NM_001313976;
	NM_001362677; NM_001373912; NM_001373913
NP_001263218; NP_001263219; NP_001265362; NP_002725; NP_997636;
	NP_997637; NP_001356318; NP_001356319; NP_001263218.1; NP_001265362.1; NP_002725.1; NP_997636.1; NP_997637.1
NP_001300902; NP_001300903; NP_001300904; NP_001300905; NP_068680;
	NP_001349606; NP_001360841; NP_001360842
	위키다타
인간 보기/편집	마우스 보기/편집

cAMP 의존 단백질 키나아제 타입 I-알파 규제 서브유닛은 인간에서 PRKAR1A 유전자에 의해 인코딩되는 효소다.^[5]

함수

cAMP는 다양한 세포 기능에 중요한 신호 분자다. cAMP는 cAMP 의존 단백질 키나아제 A(PKA)를 활성화하여 그 효과를 발휘한다. cAMP는 서로 다른 표적 단백질의 인산화 작용을 통해 신호를 변환한다.PKA의 비활성 홀로엔자임은 2개의 규제와 2개의 촉매 서브유닛으로 구성된 테트라머다. cAMP는 비활성 홀로엔자임(holoenzyme)을 4개의 cAMP와 2개의 자유 단층 촉매 서브유닛에 바인딩된 규제 서브유닛의 조광기로 분리시킨다.PKA의 4개의 서로 다른 규제 하위 항목과 3개의 촉매 하위 항목이 인간에서 확인되었다.이 유전자에 의해 인코딩된 단백질은 규제 하위유닛 중 하나이다.이 단백질은 간종 x 섬유블라스트 하이브리드의 7개 간 유전자의 발현을 하향 조절하는 조직별 소화기로 밝혀졌다. 같은 단백질을 인코딩하는 3가지 다른 분열성 대본 변형이 관찰됐다.^[6]

임상적 유의성

이 유전자의 기능적 무효 돌연변이는 자가 지배적 다발성 신드롬인 카니 콤플렉스(CNC)를 유발한다.이 유전자는 유전자 재배치에 의해 RET 양성자와 융합할 수 있고 PTC2로 알려진 갑상선 종양 특유의 키메릭 종양 유전자를 형성할 수 있다.^[6]

PRKAR1A의 돌연변이는 카니 콤플렉스로 이어져 다중 내분비종양과 연관된다.^{[citation needed]}

상호작용

PRKAR1A는 다음과 상호 작용하는 것으로 나타났다.

참고 항목

cAMP 의존 단백질 키나아제

참조

^ ^a ^b ^c GRCh38: 앙상블 릴리스 89: ENSG00000108946 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리스 89: ENSMUSG000020612 - 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.
^ Scambler P, Oyen O, Wainwright B, Farrall M, Law HY, Estivill X, Sandberg M, Williamson R, Jahnsen T (December 1987). "Exclusion of catalytic and regulatory subunits of cAMP-dependent protein kinase as candidate genes for the defect causing cystic fibrosis". Am J Hum Genet. 41 (5): 925–32. PMC 1684338. PMID 3479018.
^ ^a ^b "Entrez Gene: PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)".
^ Huang LJ, Durick K, Weiner JA, Chun J, Taylor SS (October 1997). "D-AKAP2, a novel protein kinase A anchoring protein with a putative RGS domain". Proc. Natl. Acad. Sci. U.S.A. 94 (21): 11184–9. Bibcode:1997PNAS...9411184J. doi:10.1073/pnas.94.21.11184. PMC 23409. PMID 9326583.
^ Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
^ ^a ^b Carlson CR, Ruppelt A, Taskén K (March 2003). "A kinase anchoring protein (AKAP) interaction and dimerization of the RIalpha and RIbeta regulatory subunits of protein kinase a in vivo by the yeast two hybrid system". J. Mol. Biol. 327 (3): 609–18. doi:10.1016/s0022-2836(03)00093-7. PMID 12634056.
^ Herberg FW, Maleszka A, Eide T, Vossebein L, Tasken K (April 2000). "Analysis of A-kinase anchoring protein (AKAP) interaction with protein kinase A (PKA) regulatory subunits: PKA isoform specificity in AKAP binding". J. Mol. Biol. 298 (2): 329–39. doi:10.1006/jmbi.2000.3662. PMID 10764601.
^ Brown PR, Miki K, Harper DB, Eddy EM (June 2003). "A-kinase anchoring protein 4 binding proteins in the fibrous sheath of the sperm flagellum". Biol. Reprod. 68 (6): 2241–8. doi:10.1095/biolreprod.102.013466. PMID 12606363.
^ Miki K, Eddy EM (December 1998). "Identification of tethering domains for protein kinase A type Ialpha regulatory subunits on sperm fibrous sheath protein FSC1". J. Biol. Chem. 273 (51): 34384–90. doi:10.1074/jbc.273.51.34384. PMID 9852104.
^ ^a ^b Li H, Adamik R, Pacheco-Rodriguez G, Moss J, Vaughan M (February 2003). "Protein kinase A-anchoring (AKAP) domains in brefeldin A-inhibited guanine nucleotide-exchange protein 2 (BIG2)". Proc. Natl. Acad. Sci. U.S.A. 100 (4): 1627–32. Bibcode:2003PNAS..100.1627L. doi:10.1073/pnas.0337678100. PMC 149883. PMID 12571360.
^ Tortora G, Damiano V, Bianco C, Baldassarre G, Bianco AR, Lanfrancone L, Pelicci PG, Ciardiello F (February 1997). "The RIalpha subunit of protein kinase A (PKA) binds to Grb2 and allows PKA interaction with the activated EGF-receptor". Oncogene. 14 (8): 923–8. doi:10.1038/sj.onc.1200906. PMID 9050991.
^ Küssel-Andermann P, El-Amraoui A, Safieddine S, Hardelin JP, Nouaille S, Camonis J, Petit C (September 2000). "Unconventional myosin VIIA is a novel A-kinase-anchoring protein". J. Biol. Chem. 275 (38): 29654–9. doi:10.1074/jbc.M004393200. PMID 10889203.
^ Taskén K, Skålhegg BS, Solberg R, Andersson KB, Taylor SS, Lea T, Blomhoff HK, Jahnsen T, Hansson V (October 1993). "Novel isozymes of cAMP-dependent protein kinase exist in human cells due to formation of RI alpha-RI beta heterodimeric complexes". J. Biol. Chem. 268 (28): 21276–83. doi:10.1016/S0021-9258(19)36921-2. PMID 8407966.
^ Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. 3: 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.

추가 읽기

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Bourdeau I, Stratakis CA (2002). "Cyclic AMP-dependent signaling aberrations in macronodular adrenal disease". Ann. N. Y. Acad. Sci. 968 (1): 240–55. Bibcode:2002NYASA.968..240B. doi:10.1111/j.1749-6632.2002.tb04339.x. PMID 12119280. S2CID 22397904.
Alto N, Carlisle Michel JJ, Dodge KL, Langeberg LK, Scott JD (2003). "Intracellular targeting of protein kinases and phosphatases". Diabetes. 51 Suppl 3: S385–8. doi:10.2337/diabetes.51.2007.s385. PMID 12475780.
Stergiopoulos SG, Stratakis CA (2003). "Human tumors associated with Carney complex and germline PRKAR1A mutations: a protein kinase A disease!". FEBS Lett. 546 (1): 59–64. doi:10.1016/S0014-5793(03)00452-6. PMID 12829237. S2CID 37055425.
Bossis I, Stratakis CA (2004). "Minireview: PRKAR1A: normal and abnormal functions". Endocrinology. 145 (12): 5452–8. doi:10.1210/en.2004-0900. PMID 15331577.
Cho-Chung YS, Nesterova MV (2006). "Tumor reversion: protein kinase A isozyme switching". Ann. N. Y. Acad. Sci. 1058: 76–86. doi:10.1196/annals.1359.014. PMID 16394127. S2CID 45471438.
Lytras A, Tolis G (2006). "Growth hormone-secreting tumors: genetic aspects and data from animal models". Neuroendocrinology. 83 (3–4): 166–78. doi:10.1159/000095525. PMID 17047380. S2CID 45606794.
Harrich D, McMillan N, Munoz L, Apolloni A, Meredith L (2007). "Will diverse Tat interactions lead to novel antiretroviral drug targets?". Current Drug Targets. 7 (12): 1595–606. doi:10.2174/138945006779025338. PMID 17168834.
Boshart M, Weih F, Nichols M, Schütz G (1991). "The tissue-specific extinguisher locus TSE1 encodes a regulatory subunit of cAMP-dependent protein kinase" (PDF). Cell. 66 (5): 849–59. doi:10.1016/0092-8674(91)90432-X. PMID 1832337. S2CID 8277752.
Jones KW, Shapero MH, Chevrette M, Fournier RE (1991). "Subtractive hybridization cloning of a tissue-specific extinguisher: TSE1 encodes a regulatory subunit of protein kinase A". Cell. 66 (5): 861–72. doi:10.1016/0092-8674(91)90433-Y. PMID 1889088. S2CID 24273073.
Hofmann B, Nishanian P, Baldwin RL, Insixiengmay P, Nel A, Fahey JL (1991). "HIV inhibits the early steps of lymphocyte activation, including initiation of inositol phospholipid metabolism". J. Immunol. 145 (11): 3699–705. PMID 1978848.
Sandberg M, Skålhegg B, Jahnsen T (1990). "The two mRNA forms for the type I alpha regulatory subunit of cAMP-dependent protein kinase from human testis are due to the use of different polyadenylation site signals". Biochem. Biophys. Res. Commun. 167 (1): 323–30. doi:10.1016/0006-291X(90)91768-N. PMID 2310396.
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Sandberg M, Taskén K, Oyen O, Hansson V, Jahnsen T (1988). "Molecular cloning, cDNA structure and deduced amino acid sequence for a type I regulatory subunit of cAMP-dependent protein kinase from human testis". Biochem. Biophys. Res. Commun. 149 (3): 939–45. doi:10.1016/0006-291X(87)90499-2. PMID 3426618.
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외부 링크

PDBe-KB는 휴먼 cAMP 의존성 단백질 키나제 유형 I-알파 규제 서브유닛(PRKAR1A)에 대해 PDB에서 이용할 수 있는 모든 구조 정보의 개요를 제공한다.

이 기사는 공공영역에 있는 미국 국립 의학 도서관의 텍스트를 통합하고 있다.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리스 89: ENSG00000108946 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리스 89: ENSMUSG000020612 - 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.

[pmid3479018-5] Scambler P, Oyen O, Wainwright B, Farrall M, Law HY, Estivill X, Sandberg M, Williamson R, Jahnsen T (December 1987). "Exclusion of catalytic and regulatory subunits of cAMP-dependent protein kinase as candidate genes for the defect causing cystic fibrosis". Am J Hum Genet. 41 (5): 925–32. PMC 1684338. PMID 3479018.

[entrez-6] "Entrez Gene: PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)".

[pmid9326583-7] Huang LJ, Durick K, Weiner JA, Chun J, Taylor SS (October 1997). "D-AKAP2, a novel protein kinase A anchoring protein with a putative RGS domain". Proc. Natl. Acad. Sci. U.S.A. 94 (21): 11184–9. Bibcode:1997PNAS...9411184J. doi:10.1073/pnas.94.21.11184. PMC 23409. PMID 9326583.

[pmid16189514-8] Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.

[pmid12634056-9] Carlson CR, Ruppelt A, Taskén K (March 2003). "A kinase anchoring protein (AKAP) interaction and dimerization of the RIalpha and RIbeta regulatory subunits of protein kinase a in vivo by the yeast two hybrid system". J. Mol. Biol. 327 (3): 609–18. doi:10.1016/s0022-2836(03)00093-7. PMID 12634056.

[pmid10764601-10] Herberg FW, Maleszka A, Eide T, Vossebein L, Tasken K (April 2000). "Analysis of A-kinase anchoring protein (AKAP) interaction with protein kinase A (PKA) regulatory subunits: PKA isoform specificity in AKAP binding". J. Mol. Biol. 298 (2): 329–39. doi:10.1006/jmbi.2000.3662. PMID 10764601.

[pmid12606363-11] Brown PR, Miki K, Harper DB, Eddy EM (June 2003). "A-kinase anchoring protein 4 binding proteins in the fibrous sheath of the sperm flagellum". Biol. Reprod. 68 (6): 2241–8. doi:10.1095/biolreprod.102.013466. PMID 12606363.

[pmid9852104-12] Miki K, Eddy EM (December 1998). "Identification of tethering domains for protein kinase A type Ialpha regulatory subunits on sperm fibrous sheath protein FSC1". J. Biol. Chem. 273 (51): 34384–90. doi:10.1074/jbc.273.51.34384. PMID 9852104.

[pmid12571360-13] Li H, Adamik R, Pacheco-Rodriguez G, Moss J, Vaughan M (February 2003). "Protein kinase A-anchoring (AKAP) domains in brefeldin A-inhibited guanine nucleotide-exchange protein 2 (BIG2)". Proc. Natl. Acad. Sci. U.S.A. 100 (4): 1627–32. Bibcode:2003PNAS..100.1627L. doi:10.1073/pnas.0337678100. PMC 149883. PMID 12571360.

[pmid9050991-14] Tortora G, Damiano V, Bianco C, Baldassarre G, Bianco AR, Lanfrancone L, Pelicci PG, Ciardiello F (February 1997). "The RIalpha subunit of protein kinase A (PKA) binds to Grb2 and allows PKA interaction with the activated EGF-receptor". Oncogene. 14 (8): 923–8. doi:10.1038/sj.onc.1200906. PMID 9050991.

[pmid10889203-15] Küssel-Andermann P, El-Amraoui A, Safieddine S, Hardelin JP, Nouaille S, Camonis J, Petit C (September 2000). "Unconventional myosin VIIA is a novel A-kinase-anchoring protein". J. Biol. Chem. 275 (38): 29654–9. doi:10.1074/jbc.M004393200. PMID 10889203.

[pmid8407966-16] Taskén K, Skålhegg BS, Solberg R, Andersson KB, Taylor SS, Lea T, Blomhoff HK, Jahnsen T, Hansson V (October 1993). "Novel isozymes of cAMP-dependent protein kinase exist in human cells due to formation of RI alpha-RI beta heterodimeric complexes". J. Biol. Chem. 268 (28): 21276–83. doi:10.1016/S0021-9258(19)36921-2. PMID 8407966.

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