CA5B - carbonic anhydrase 5B-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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11238 CA5B

基因描述

Type	Description
Definition	carbonic anhydrase 5B

研究结论

Date	Results	Publications
2017-09-16 11:49:00	In 10 of 96 patients, mutations in CA5A were identified on both alleles but none in CA5B. Exhibiting decreased enzyme activity or thermal stability, all CAVA mutations were proven to cause disease, whereas the three variants showed no relevant effect	26913920
2010-01-21 00:00:00	activators enhanced kcat, with no effect on KM, favoring the RDS in the catalytic cycle; the activation pattern of the two mitochondrial isoforms is very different from each other and as compared to those of the cytosolic isoforms hCA I and II.	17174092

名称对应

Type	IDs
Synonymous	CA-VB, CAVB
Gene	UniProtKB-ID: CAH5B_HUMAN, A0A024RBW9_HUMAN UniprotKB: Q9Y2D0, A0A024RBW9 UniParc: UPI0000126D58 EMBL: CH471074, AK291050, BC028142, AB021660 Ensembl: ENSG00000169239 KO: hsa:11238
Nucleutide sequences	EMBL-CDS: EAW98897.1, AAH28142.1, BAA76671.1, BAF83739.1, EAW98898.1 Gene_ORFName: hCG_1982002 Ensembl_TRS: ENST00000318636, ENST00000454127
Protein sequencees	Ensembl_PRO: ENSP00000314099, ENSP00000417021 RefSeq: NP_009151.1
Others	UniRef100: UniRef100_Q9Y2D0 UniRef90: UniRef90_Q9Y2D0 UniRef50: UniRef50_Q9Y2D0 UniGene: Hs.653287 CCDS: CCDS14171.1

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mRNA

Protein

UniprotKB

Description

Refseq

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Location

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Pubmed编号	文献信息	发表日期	相关基因
28514442	Architecture of the human interactome defines protein communities and disease networks. Nature Edward L Huttlin , Raphael J Bruckner , Joao A Paulo , Joe R Cannon , Lily Ting , Kurt Baltier , Greg Colby , Fana Gebreab , Melanie P Gygi , Hannah Parzen , John Szpyt , Stanley Tam , Gabriela Zarraga , Laura Pontano-Vaites , Sharan Swarup , Anne E White , Devin K Schweppe , Ramin Rad , Brian K Erickson , Robert A Obar , K G Guruharsha , Kejie Li , Spyros Artavanis-Tsakonas , Steven P Gygi , J Wade Harper	2017-05-25	-
26913920	Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis. Genet. Med. Carmen Diez-Fernandez , VÃ©ronique RÃ¼fenacht , Saikat Santra , Allan M Lund , RenÃ© Santer , Martin Lindner , Trine Tangeraas , Caroline Unsinn , Pascale de Lonlay , Alberto Burlina , Clara D M van Karnebeek , Johannes HÃ¤berle	2016-10-01	-
22658674	Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. Cell Alfredo Castello , Bernd Fischer , Katrin Eichelbaum , Rastislav Horos , Benedikt M Beckmann , Claudia Strein , Norman E Davey , David T Humphreys , Thomas Preiss , Lars M Steinmetz , Jeroen Krijgsveld , Matthias W Hentze	2012-06-08	GNPDA1, SCARNA27, GABPB1-AS1, NFYC-AS1, FKSG29, PHKA2-AS1, HDAC6, PDCD6, C17orf96, LOC100287042, MIR3652, ARPC4-TTLL3, ATP5J2-PTCD1, TGIF2-C20orf24, FARSB, ABCC5, ABCF2, HUWE1, ARPC4, ARPC1B, ACTR3, ACTR1A, LRPPRC, TRAP1, BCAP31, NAMPT, RBM12, TOB1, G3BP1, SUGP2, MBNL2, ABI2, CEBPZ, ATP6AP2, SLC25A15, RCL1, RBM7, RBM6, RBM5, ALYREF, PSME3, MPHOSPH10, NUTF2, USPL1, DDX39A, STX6, HNRNPR, MRPS31, RIDA, SF3B4, AKAP8, STUB1, SIGMAR1, SMNDC1, BCAS2, SF3A1, CDKN2A, APBB3, SMYD5, ADAR, EMC8, NPM3, HMG20A, NOD1, RACK1, NDC80, NSA2, YAP1, CD2BP2, TUBGCP3, RBM14, EMG1, ACAA2, PPIE, TAB1, MAD2L2, PIBF1, SLC25A17, NXF1, CREB3, LRRC41, SYNCRIP, ENOX2, MYBBP1A, DDX17, ADARB2, CHERP, HYOU1, IPO8, NOP56, RNASEH2A, GLRX3, DCTN2, LAMTOR5, PRDX4, AGPAT1, RPP30, SLU7, MRPL28
21873635	Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics Pascale Gaudet , Michael S Livstone , Suzanna E Lewis , Paul D Thomas	2011-09-01	-
19322201	Ubiquitin-mediated proteolysis of HuR by heat shock. EMBO J Kotb Abdelmohsen , Subramanya Srikantan , Xiaoling Yang , Ashish Lal , Hyeon Ho Kim , Yuki Kuwano , Stefanie Galban , Kevin G Becker , Davida Kamara , Rafael de Cabo , Myriam Gorospe	2009-05-06	-
17207965	hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Genomics Philippe Lamesch , Ning Li , Stuart Milstein , Changyu Fan , Tong Hao , Gabor Szabo , Zhenjun Hu , Kavitha Venkatesan , Graeme Bethel , Paul Martin , Jane Rogers , Stephanie Lawlor , Stuart McLaren , AmÃ©lie Dricot , Heather Borick , Michael E Cusick , Jean Vandenhaute , Ian Dunham , David E Hill , Marc Vidal	2007-03-01	GNPDA1, CTAGE4, BCL2L11, PIGK, TIMM23, NPIPA5, CST8, AP1M2, COX17, TIMM23B, SNX29P1, IL18BP, RWDD2B, TSSC4, UPK1A-AS1, ARPC5, ARPC3, TSPAN5, TSPAN3, TSPAN1, PPIF, CTDSP2, NAMPT, PDZK1IP1, DHRS9, RBM7, MPHOSPH6, DHRS2, MPZL2, GPA33, CALCOCO2, SPRY3, SPRY1, RAMP3, TRAIP, DNAJA2, IKZF1, CRISP3, SIRPB1, CNPY2, B3GNT3, WARS2, NPM3, CDO1, CACNG3, TUBB4B, CEPT1, PEMT, WFDC2, NSA2, EMG1, TIMM17A, PPIE, HAX1, CIB2, DCTN2, RPP38, SLC35A1, IFI44, CXCL13, SIVA1, MRPL28, CENPA, MAB21L2, RAD51AP1, MTX2, CGRRF1, DCTN6, B3GNT2, CLDN16, PNMA2, KLRA1P, SRSF10, ARPP21, STARD10, CGA, EDDM3A, CFHR3, GPR83, RAB10, CPSF4, RUNDC3A, COPS8, C11orf58, CCDC85B, GLIPR1, KLK11, SNRNP27, LIAS, LILRA2, SNRNP35, CYB561D2, ESM1, WDR5, BTN2A1, HHLA3, BVES, KLK8, MRPL3
17174092	Carbonic anhydrase activators: an activation study of the human mitochondrial isoforms VA and VB with amino acids and amines. Bioorg. Med. Chem. Lett. Daniela Vullo , Isao Nishimori , Alessio Innocenti , Andrea Scozzafava , Claudiu T Supuran	2007-03-01	CA5B, CA5A
15489334	The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. Daniela S Gerhard , Lukas Wagner , Elise A Feingold , Carolyn M Shenmen , Lynette H Grouse , Greg Schuler , Steven L Klein , Susan Old , Rebekah Rasooly , Peter Good , Mark Guyer , Allison M Peck , Jeffery G Derge , David Lipman , Francis S Collins , Wonhee Jang , Steven Sherry , Mike Feolo , Leonie Misquitta , Eduardo Lee , Kirill Rotmistrovsky , Susan F Greenhut , Carl F Schaefer , Kenneth Buetow , Tom I Bonner , David Haussler , Jim Kent , Mark Kiekhaus , Terry Furey , Michael Brent , Christa Prange , Kirsten Schreiber , Nicole Shapiro , Narayan K Bhat , Ralph F Hopkins , Florence Hsie , Tom Driscoll , M Bento Soares , Tom L Casavant , Todd E Scheetz , Michael J Brown-stein , Ted B Usdin , Shiraki Toshiyuki , Piero Carninci , Yulan Piao , Dawood B Dudekula , Minoru S H Ko , Koichi Kawakami , Yutaka Suzuki , Sumio Sugano , C E Gruber , M R Smith , Blake Simmons , Troy Moore , Richard Waterman , Stephen L Johnson , Yijun Ruan , Chia Lin Wei , S Mathavan , Preethi H Gunaratne , Jiaqian Wu , Angela M Garcia , Stephen W Hulyk , Edwin Fuh , Ye Yuan , Anna Sneed , Carla Kowis , Anne Hodgson , Donna M Muzny , John McPherson , Richard A Gibbs , Jessica Fahey , Erin Helton , Mark Ketteman , Anuradha Madan , Stephanie Rodrigues , Amy Sanchez , Michelle Whiting , Anup Madari , Alice C Young , Keith D Wetherby , Steven J Granite , Peggy N Kwong , Charles P Brinkley , Russell L Pearson , Gerard G Bouffard , Robert W Blakesly , Eric D Green , Mark C Dickson , Alex C Rodriguez , Jane Grimwood , Jeremy Schmutz , Richard M Myers , Yaron S N Butterfield , Malachi Griffith , Obi L Griffith , Martin I Krzywinski , Nancy Liao , Ryan Morin , Ryan Morrin , Diana Palmquist , Anca S Petrescu , Ursula Skalska , Duane E Smailus , Jeff M Stott , Angelique Schnerch , Jacqueline E Schein , Steven J M Jones , Robert A Holt , Agnes Baross , Marco A Marra , Sandra Clifton , Kathryn A Makowski , Stephanie Bosak , Joel Malek , MGC Project Team	2004-10-01	Ldlrap1, Dnajc3, Rnaset2a, Btnl1, Isg15, Cyp3a41b, Ly6c2, Ccl21b, Eif3j2, Mup18, Lrrc19, Rcc1, 1700047I17Rik2, Pcsk9, Adat3, Tdrd7, Sco2, Gpr153, Pafah2, Gm44504, H6pd, Adprhl2, Gpn2, Rusc2, Stx12, Ppp1r8, Smpdl3b, Fam46b, Bsdc1, Slc44a1, Zfand2a, Rubcn, Kifc1, Pifo, C030017K20Rik, Cbarp, Rpl5, Micalcl, Atg14, Lrrc8c, Noc4l, Nsun5, Psph, Trrap, Mapre3, Ube3c, Tbc1d14, Hscb, Tyw1, Emilin1, Rab28, Pot1a, Parp11, Tada3, Tra2a, Brk1, Fbxl14, Phrf1, Plekha1, Gm21975, Ric8a, Mob2, Prkd2, Ccp110, Vrk3, Grwd1, Nlrp6, Trim68, Psip1, Spred3, Faap24, Ints4, Rrp8, Unc45a, Igflr1, Sf3b3, D8Ertd738e, Usb1, Champ1, Smim19, Exoc8, Gadd45gip1, Phkb, Dohh, Fam192a, Enkd1, Taf5l, Zdhhc7, Snapc2, Ak6, Gpat4, Dcun1d2, Ankrd10, Cog4, Hinfp, Lars2, Xylb, Imp3, Cmtm7
15342556	Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. Genome Res. Yutaka Suzuki , Riu Yamashita , Matsuyuki Shirota , Yuta Sakakibara , Joe Chiba , Junko Mizushima-Sugano , Kenta Nakai , Sumio Sugano	2004-09-01	GNE, HCN4, GPR75-ASB3, LOC100507431, ZHX1-C8orf76, NR1H3, SERF2, LOC101929134, RNF41, CDK5, NUTF2, RCAN2, GLYAT, RAMP3, SMIM11B, CT45A8, NET1, NMUR1, TNIP1, SIRPB1, EMC8, BTN2A2, DLC1, ATP8A1, TUBGCP3, EMG1, TOMM40, CEACAM5, SEC23B, UNC13B, APPBP2, FBLN5, DDX17, HYOU1, ATG7, BATF, GLRX3, HTATIP2, RPP38, PDLIM5, ERLIN1, TGOLN2, POLR3G, POSTN, IGF2BP1, DMRT2, CELF2, CCT6B, CCT8, POLQ, NUDC, PTGES3, PLK4, POP4, NEK6, GJB6, UTP14A, FRS2, USP20, CD300C, WDR3, DHRS4, BLCAP, SUGT1, POP1, C11orf58, TMED2, SLC38A3, IL24, ATF7, RAB35, LILRA2, UBE2C, CYB561D2, RPP14, CHEK1, HIBADH, FOXN3, RCAN3, SLC7A9, HHLA2, ERLIN2, FAM107A, CHIT1, IRAK3, AKAP10, DUSP10, CA5B, SAT2, FILIP1L, GLMP, WDR89, PARK7, ADCY7, VSIG4, MGLL, SMIM12, SYNPO, HENMT1
14702039	Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat. Genet. Toshio Ota , Yutaka Suzuki , Tetsuo Nishikawa , Tetsuji Otsuki , Tomoyasu Sugiyama , Ryotaro Irie , Ai Wakamatsu , Koji Hayashi , Hiroyuki Sato , Keiichi Nagai , Kouichi Kimura , Hiroshi Makita , Mitsuo Sekine , Masaya Obayashi , Tatsunari Nishi , Toshikazu Shibahara , Toshihiro Tanaka , Shizuko Ishii , Jun-ichi Yamamoto , Kaoru Saito , Yuri Kawai , Yuko Isono , Yoshitaka Nakamura , Kenji Nagahari , Katsuhiko Murakami , Tomohiro Yasuda , Takao Iwayanagi , Masako Wagatsuma , Akiko Shiratori , Hiroaki Sudo , Takehiko Hosoiri , Yoshiko Kaku , Hiroyo Kodaira , Hiroshi Kondo , Masanori Sugawara , Makiko Takahashi , Katsuhiro Kanda , Takahide Yokoi , Takako Furuya , Emiko Kikkawa , Yuhi Omura , Kumi Abe , Kumiko Kamihara , Naoko Katsuta , Kazuomi Sato , Machiko Tanikawa , Makoto Yamazaki , Ken Ninomiya , Tadashi Ishibashi , Hiromichi Yamashita , Katsuji Murakawa , Kiyoshi Fujimori , Hiroyuki Tanai , Manabu Kimata , Motoji Watanabe , Susumu Hiraoka , Yoshiyuki Chiba , Shinichi Ishida , Yukio Ono , Sumiyo Takiguchi , Susumu Watanabe , Makoto Yosida , Tomoko Hotuta , Junko Kusano , Keiichi Kanehori , Asako Takahashi-Fujii , Hiroto Hara , Tomo-o Tanase , Yoshiko Nomura , Sakae Togiya , Fukuyo Komai , Reiko Hara , Kazuha Takeuchi , Miho Arita , Nobuyuki Imose , Kaoru Musashino , Hisatsugu Yuuki , Atsushi Oshima , Naokazu Sasaki , Satoshi Aotsuka , Yoko Yoshikawa , Hiroshi Matsunawa , Tatsuo Ichihara , Namiko Shiohata , Sanae Sano , Shogo Moriya , Hiroko Momiyama , Noriko Satoh , Sachiko Takami , Yuko Terashima , Osamu Suzuki , Satoshi Nakagawa , Akihiro Senoh , Hiroshi Mizoguchi , Yoshihiro Goto , Fumio Shimizu , Hirokazu Wakebe , Haretsugu Hishigaki , Takeshi Watanabe , Akio Sugiyama , Makoto Takemoto , Bunsei Kawakami , Masaaki Yamazaki , Koji Watanabe , Ayako Kumagai , Shoko Itakura , Yasuhito Fukuzumi , Yoshifumi Fujimori , Megumi Komiyama , Hiroyuki Tashiro , Akira Tanigami , Tsutomu Fujiwara , Toshihide Ono , Katsue Yamada , Yuka Fujii , Kouichi Ozaki , Maasa Hirao , Yoshihiro Ohmori , Ayako Kawabata , Takeshi Hikiji , Naoko Kobatake , Hiromi Inagaki , Yasuko Ikema , Sachiko Okamoto , Rie Okitani , Takuma Kawakami , Saori Noguchi , Tomoko Itoh , Keiko Shigeta , Tadashi Senba , Kyoka Matsumura , Yoshie Nakajima , Takae Mizuno , Misato Morinaga , Masahide Sasaki , Takushi Togashi , Masaaki Oyama , Hiroko Hata , Manabu Watanabe , Takami Komatsu , Junko Mizushima-Sugano , Tadashi Satoh , Yuko Shirai , Yukiko Takahashi , Kiyomi Nakagawa , Koji Okumura , Takahiro Nagase , Nobuo Nomura , Hisashi Kikuchi , Yasuhiko Masuho , Riu Yamashita , Kenta Nakai , Tetsushi Yada , Yusuke Nakamura , Osamu Ohara , Takao Isogai , Sumio Sugano	2004-01-01	Slc9a8, Nefm, Hfe2, AKT3, ZBTB11-AS1, LOC100034248, PDZK1P1, DDTL, LOC100049716, ACOT8, GNPDA1, ZBTB33, GTF2IP4, POM121C, ZSCAN30, SRA1, SNORD123, UCKL1-AS1, ZGLP1, LOC100125918, LINC00322, LOC100127940, HECW1-IT1, LOC100127955, LOC100127972, LOC100127974, FAM229A, LOC100128076, STAU2-AS1, LOC100128164, TMPO-AS1, LOC100128219, LOC100128239, LOC100128253, TNK2-AS1, DNM1P35, LOC100128288, DLG5-AS1, LOC100128310, TRAPPC3L, FAM83H-AS1, LOC100128361, LOC100128364, FAM225B, LOC100128386, LOC100128398, ASTN2-AS1, C1orf132, MYHAS, LOC100128651, LINC00476, SRRM2-AS1, GPR158-AS1, LINC01165, VPS9D1-AS1, FAM66B, GATA6-AS1, LINC01310, LOC100128979, LOC100128988, LOC100129034, SEMA3F-AS1, UNQ6494, LOC100129115, KHDC1L, LOC100129175, MATN1-AS1, SLC39A12-AS1, LOC100129297, LOC100129312, LINC00484, LOC100129397, LOC100129406, DDC-AS1, LOC100129434, LOC100129447, LOC100129455, LYRM4-AS1, ZNF37BP, LOC100129516, LOC100129518, LOC100129540, LOC100129572, FAM47E, LOC100129620, LOC100129648, C9orf173-AS1, LOC100129775, SLC25A21-AS1, PCOLCE-AS1, SCOC-AS1, LOC100129884, LOC100129894, LOC100129917, LOC100129935, LOC100130078, LOC100130111, MAPT-IT1, MIR124-2HG

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