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CPS1 (англ. Carbamoyl-phosphate synthase 1) – білок, який кодується однойменним геном, розташованим у людей на 2-й хромосомі. Довжина поліпептидного ланцюга білка становить 1 500 амінокислот, а молекулярна маса — 164 939.
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| Ідентифікатори | |||||||||||||||||
| Символи | CPS1, PHN, carbamoyl-phosphate synthase 1, CPSASE1, GATD6 | ||||||||||||||||
| Зовнішні ІД | OMIM: 608307 MGI: 891996 HomoloGene: 68208 GeneCards: CPS1 | ||||||||||||||||
| Пов'язані генетичні захворювання | |||||||||||||||||
| захворювання нирок, carbamoyl phosphate synthetase I deficiency disease | |||||||||||||||||
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| Ортологи | |||||||||||||||||
| Види | Людина | Миша | |||||||||||||||
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| UniProt |
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| RefSeq (мРНК) |
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| RefSeq (білок) |
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| Локус (UCSC) | Хр. 2: 210.48 – 210.68 Mb | Хр. 1: 67.16 – 67.27 Mb | |||||||||||||||
| PubMed search | |||||||||||||||||
| Вікідані | |||||||||||||||||
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| 10 | 20 | 30 | 40 | 50 | ||||
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| MTRILTAFKV | VRTLKTGFGF | TNVTAHQKWK | FSRPGIRLLS | VKAQTAHIVL | ||||
| EDGTKMKGYS | FGHPSSVAGE | VVFNTGLGGY | PEAITDPAYK | GQILTMANPI | ||||
| IGNGGAPDTT | ALDELGLSKY | LESNGIKVSG | LLVLDYSKDY | NHWLATKSLG | ||||
| QWLQEEKVPA | IYGVDTRMLT | KIIRDKGTML | GKIEFEGQPV | DFVDPNKQNL | ||||
| IAEVSTKDVK | VYGKGNPTKV | VAVDCGIKNN | VIRLLVKRGA | EVHLVPWNHD | ||||
| FTKMEYDGIL | IAGGPGNPAL | AEPLIQNVRK | ILESDRKEPL | FGISTGNLIT | ||||
| GLAAGAKTYK | MSMANRGQNQ | PVLNITNKQA | FITAQNHGYA | LDNTLPAGWK | ||||
| PLFVNVNDQT | NEGIMHESKP | FFAVQFHPEV | TPGPIDTEYL | FDSFFSLIKK | ||||
| GKATTITSVL | PKPALVASRV | EVSKVLILGS | GGLSIGQAGE | FDYSGSQAVK | ||||
| AMKEENVKTV | LMNPNIASVQ | TNEVGLKQAD | TVYFLPITPQ | FVTEVIKAEQ | ||||
| PDGLILGMGG | QTALNCGVEL | FKRGVLKEYG | VKVLGTSVES | IMATEDRQLF | ||||
| SDKLNEINEK | IAPSFAVESI | EDALKAADTI | GYPVMIRSAY | ALGGLGSGIC | ||||
| PNRETLMDLS | TKAFAMTNQI | LVEKSVTGWK | EIEYEVVRDA | DDNCVTVCNM | ||||
| ENVDAMGVHT | GDSVVVAPAQ | TLSNAEFQML | RRTSINVVRH | LGIVGECNIQ | ||||
| FALHPTSMEY | CIIEVNARLS | RSSALASKAT | GYPLAFIAAK | IALGIPLPEI | ||||
| KNVVSGKTSA | CFEPSLDYMV | TKIPRWDLDR | FHGTSSRIGS | SMKSVGEVMA | ||||
| IGRTFEESFQ | KALRMCHPSI | EGFTPRLPMN | KEWPSNLDLR | KELSEPSSTR | ||||
| IYAIAKAIDD | NMSLDEIEKL | TYIDKWFLYK | MRDILNMEKT | LKGLNSESMT | ||||
| EETLKRAKEI | GFSDKQISKC | LGLTEAQTRE | LRLKKNIHPW | VKQIDTLAAE | ||||
| YPSVTNYLYV | TYNGQEHDVN | FDDHGMMVLG | CGPYHIGSSV | EFDWCAVSSI | ||||
| RTLRQLGKKT | VVVNCNPETV | STDFDECDKL | YFEELSLERI | LDIYHQEACG | ||||
| GCIISVGGQI | PNNLAVPLYK | NGVKIMGTSP | LQIDRAEDRS | IFSAVLDELK | ||||
| VAQAPWKAVN | TLNEALEFAK | SVDYPCLLRP | SYVLSGSAMN | VVFSEDEMKK | ||||
| FLEEATRVSQ | EHPVVLTKFV | EGAREVEMDA | VGKDGRVISH | AISEHVEDAG | ||||
| VHSGDATLML | PTQTISQGAI | EKVKDATRKI | AKAFAISGPF | NVQFLVKGND | ||||
| VLVIECNLRA | SRSFPFVSKT | LGVDFIDVAT | KVMIGENVDE | KHLPTLDHPI | ||||
| IPADYVAIKA | PMFSWPRLRD | ADPILRCEMA | STGEVACFGE | GIHTAFLKAM | ||||
| LSTGFKIPQK | GILIGIQQSF | RPRFLGVAEQ | LHNEGFKLFA | TEATSDWLNA | ||||
| NNVPATPVAW | PSQEGQNPSL | SSIRKLIRDG | SIDLVINLPN | NNTKFVHDNY | ||||
| VIRRTAVDSG | IPLLTNFQVT | KLFAEAVQKS | RKVDSKSLFH | YRQYSAGKAA | ||||
Кодований геном білок за функціями належить до лігаз, фосфопротеїнів. Задіяний у таких біологічних процесах, як ацетилювання, альтернативний сплайсинг. Білок має сайт для зв'язування з АТФ, нуклеотидами. Локалізований у ядрі, мітохондрії.
Література
- Funghini S., Donati M.A., Pasquini E., Zammarchi E., Morrone A. (2003). Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions. Hum. Mutat. 22: 340—341. PMID 12955727 DOI:10.1002/humu.9184
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 14: 2121—2127. 2004. PMID 15489334 DOI:10.1101/gr.2596504
- Ahmad Y., Boisvert F.M., Lundberg E., Uhlen M., Lamond A.I. (2012). Systematic analysis of protein pools, isoforms, and modifications affecting turnover and subcellular localization. Mol. Cell. Proteomics. 11: M111.013680.01 — M111.013680.15. PMID 22002106 DOI:10.1074/mcp.M111.013680
- Haeberle J., Koch H.G. (2004). Genetic approach to prenatal diagnosis in urea cycle defects. Prenat. Diagn. 24: 378—383. PMID 15164414 DOI:10.1002/pd.884
- Diez-Fernandez C., Hu L., Cervera J., Haeberle J., Rubio V. (2014). Understanding carbamoyl phosphate synthetase (CPS1) deficiency by using the recombinantly purified human enzyme: effects of CPS1 mutations that concentrate in a central domain of unknown function. Mol. Genet. Metab. 112: 123—132. PMID 24813853 DOI:10.1016/j.ymgme.2014.04.003
Примітки
- Захворювання, генетично пов'язані з CPS1 переглянути/редагувати посилання на ВікіДаних.
- Human PubMed Reference:.
- Mouse PubMed Reference:.
- HUGO Gene Nomenclature Commitee, HGNC:2323 (англ.) . Процитовано 18 вересня 2017.
- (англ.) . Архів оригіналу за 10 серпня 2017. Процитовано 18 вересня 2017.
Див. також
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CPS1 angl Carbamoyl phosphate synthase 1 bilok yakij koduyetsya odnojmennim genom roztashovanim u lyudej na 2 j hromosomi Dovzhina polipeptidnogo lancyuga bilka stanovit 1 500 aminokislot a molekulyarna masa 164 939 CPS1Nayavni strukturiPDBPoshuk ortologiv PDBe RCSB Spisok kodiv PDB2YVQ 5DOU 5DOT 4UUA 4UTV 4UTR 4UUB 4UU8 4UTZ 4UU7IdentifikatoriSimvoliCPS1 PHN carbamoyl phosphate synthase 1 CPSASE1 GATD6Zovnishni ID OMIM 608307 MGI 891996 HomoloGene 68208 GeneCards CPS1Pov yazani genetichni zahvoryuvannyazahvoryuvannya nirok carbamoyl phosphate synthetase I deficiency disease Ontologiya genaMolekulyarna funkciya nucleotide binding calcium ion binding endopeptidase activity zv yazuvannya z ionom metalu ligase activity modified amino acid binding katalitichna aktivnist GO 0001948 GO 0016582 protein binding phospholipid binding ATP binding glutamate binding carbamoyl phosphate synthase ammonia activity carbamoyl phosphate synthase glutamine hydrolyzing activity GO 0032403 protein containing complex binding aspartate carbamoyltransferase activity dihydroorotase activityKlitinna komponenta citoplazma mitohondrialnij matriks mitohondriya mitohondrialna vnutrishnya membrana mitochondrial nucleoid klitinne yadro yaderce GO 0009327 protein containing complexBiologichnij proces response to amino acid response to glucagon anion homeostasis response to steroid hormone cellular response to glucagon stimulus hepatocyte differentiation response to zinc ion nitrogen compound metabolic process response to glucocorticoid cellular response to fibroblast growth factor stimulus proteoliz response to dexamethasone triglyceride catabolic process nitric oxide metabolic process response to lipopolysaccharide glutamine metabolic process carbamoyl phosphate biosynthetic process response to amine response to growth hormone response to food response to starvation liver development obmin rechovin response to cAMP homocysteine metabolic process response to toxic substance citrulline biosynthetic process response to oleic acid cellular response to cAMP cellular response to oleic acid midgut development de novo pyrimidine nucleobase biosynthetic process vazodilataciya cikl sechovini arginine biosynthetic processDzherela Amigo QuickGOOrtologiVidi Lyudina MishaEntrez1373 227231Ensembl ENSG00000021826 ENSMUSG00000025991UniProt P31327 Q8C196RefSeq mRNK NM 001122633 NM 001122634 NM 001875 NM 001369256 NM 001369257NM 001080809RefSeq bilok NP 001116105 NP 001866 NP 001356185 NP 001356186NP 001074278Lokus UCSC Hr 2 210 48 210 68 MbHr 1 67 16 67 27 MbPubMed searchVikidaniDiv Red dlya lyudejDiv Red dlya mishej Poslidovnist aminokislot1020304050 MTRILTAFKVVRTLKTGFGFTNVTAHQKWKFSRPGIRLLSVKAQTAHIVL EDGTKMKGYSFGHPSSVAGEVVFNTGLGGYPEAITDPAYKGQILTMANPI IGNGGAPDTTALDELGLSKYLESNGIKVSGLLVLDYSKDYNHWLATKSLG QWLQEEKVPAIYGVDTRMLTKIIRDKGTMLGKIEFEGQPVDFVDPNKQNL IAEVSTKDVKVYGKGNPTKVVAVDCGIKNNVIRLLVKRGAEVHLVPWNHD FTKMEYDGILIAGGPGNPALAEPLIQNVRKILESDRKEPLFGISTGNLIT GLAAGAKTYKMSMANRGQNQPVLNITNKQAFITAQNHGYALDNTLPAGWK PLFVNVNDQTNEGIMHESKPFFAVQFHPEVTPGPIDTEYLFDSFFSLIKK GKATTITSVLPKPALVASRVEVSKVLILGSGGLSIGQAGEFDYSGSQAVK AMKEENVKTVLMNPNIASVQTNEVGLKQADTVYFLPITPQFVTEVIKAEQ PDGLILGMGGQTALNCGVELFKRGVLKEYGVKVLGTSVESIMATEDRQLF SDKLNEINEKIAPSFAVESIEDALKAADTIGYPVMIRSAYALGGLGSGIC PNRETLMDLSTKAFAMTNQILVEKSVTGWKEIEYEVVRDADDNCVTVCNM ENVDAMGVHTGDSVVVAPAQTLSNAEFQMLRRTSINVVRHLGIVGECNIQ FALHPTSMEYCIIEVNARLSRSSALASKATGYPLAFIAAKIALGIPLPEI KNVVSGKTSACFEPSLDYMVTKIPRWDLDRFHGTSSRIGSSMKSVGEVMA IGRTFEESFQKALRMCHPSIEGFTPRLPMNKEWPSNLDLRKELSEPSSTR IYAIAKAIDDNMSLDEIEKLTYIDKWFLYKMRDILNMEKTLKGLNSESMT EETLKRAKEIGFSDKQISKCLGLTEAQTRELRLKKNIHPWVKQIDTLAAE YPSVTNYLYVTYNGQEHDVNFDDHGMMVLGCGPYHIGSSVEFDWCAVSSI RTLRQLGKKTVVVNCNPETVSTDFDECDKLYFEELSLERILDIYHQEACG GCIISVGGQIPNNLAVPLYKNGVKIMGTSPLQIDRAEDRSIFSAVLDELK VAQAPWKAVNTLNEALEFAKSVDYPCLLRPSYVLSGSAMNVVFSEDEMKK FLEEATRVSQEHPVVLTKFVEGAREVEMDAVGKDGRVISHAISEHVEDAG VHSGDATLMLPTQTISQGAIEKVKDATRKIAKAFAISGPFNVQFLVKGND VLVIECNLRASRSFPFVSKTLGVDFIDVATKVMIGENVDEKHLPTLDHPI IPADYVAIKAPMFSWPRLRDADPILRCEMASTGEVACFGEGIHTAFLKAM LSTGFKIPQKGILIGIQQSFRPRFLGVAEQLHNEGFKLFATEATSDWLNA NNVPATPVAWPSQEGQNPSLSSIRKLIRDGSIDLVINLPNNNTKFVHDNY VIRRTAVDSGIPLLTNFQVTKLFAEAVQKSRKVDSKSLFHYRQYSAGKAA A Alanin C Cisteyin D Asparaginova kislota E Glutaminova kislota F Fenilalanin G Glicin H Gistidin I Izolejcin K Lizin L Lejcin M Metionin N Asparagin P Prolin Q Glutamin R Arginin S Serin T Treonin V Valin W Triptofan Y Tirozin Kodovanij genom bilok za funkciyami nalezhit do ligaz fosfoproteyiniv Zadiyanij u takih biologichnih procesah yak acetilyuvannya alternativnij splajsing Bilok maye sajt dlya zv yazuvannya z ATF nukleotidami Lokalizovanij u yadri mitohondriyi LiteraturaFunghini S Donati M A Pasquini E Zammarchi E Morrone A 2003 Structural organization of the human carbamyl phosphate synthetase I gene CPS1 and identification of two novel genetic lesions Hum Mutat 22 340 341 PMID 12955727 DOI 10 1002 humu 9184 The status quality and expansion of the NIH full length cDNA project the Mammalian Gene Collection MGC Genome Res 14 2121 2127 2004 PMID 15489334 DOI 10 1101 gr 2596504 Ahmad Y Boisvert F M Lundberg E Uhlen M Lamond A I 2012 Systematic analysis of protein pools isoforms and modifications affecting turnover and subcellular localization Mol Cell Proteomics 11 M111 013680 01 M111 013680 15 PMID 22002106 DOI 10 1074 mcp M111 013680 Haeberle J Koch H G 2004 Genetic approach to prenatal diagnosis in urea cycle defects Prenat Diagn 24 378 383 PMID 15164414 DOI 10 1002 pd 884 Diez Fernandez C Hu L Cervera J Haeberle J Rubio V 2014 Understanding carbamoyl phosphate synthetase CPS1 deficiency by using the recombinantly purified human enzyme effects of CPS1 mutations that concentrate in a central domain of unknown function Mol Genet Metab 112 123 132 PMID 24813853 DOI 10 1016 j ymgme 2014 04 003PrimitkiZahvoryuvannya genetichno pov yazani z CPS1 pereglyanuti redaguvati posilannya na VikiDanih Human PubMed Reference Mouse PubMed Reference HUGO Gene Nomenclature Commitee HGNC 2323 angl Procitovano 18 veresnya 2017 angl Arhiv originalu za 10 serpnya 2017 Procitovano 18 veresnya 2017 Div takozhHromosoma 2 Ce nezavershena stattya pro bilki Vi mozhete dopomogti proyektu vipravivshi abo dopisavshi yiyi