CEP104 - centrosomal protein 104-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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9731 CEP104

基因描述

Type	Description
Definition	centrosomal protein 104

研究结论

Date	Results	Publications
2021-03-13 13:17:00	Roles of TOG and jelly-roll domains of centrosomal protein CEP104 in its functions in cilium elongation and Hedgehog signaling.	32820051
2020-06-20 11:27:00	Study identified two novel heterozygous mutations of CEP104 in a patient with Joubert syndrome, which were c.2364+1G>A and c.414delC (p.Asn138Lysfs*11) and consistent with the autosomal recessive inheritance mode.	31625690
2017-05-13 22:32:00	Biophysical and Structural Characterization of the Centriolar Protein Cep104 Interaction Network.	27402853
2016-02-27 11:15:00	Mutations in CEP104 is associated with Joubert Syndrome.	26477546

名称对应

Type	IDs
Synonymous	CFAP256, GlyBP, JBTS25, KIAA0562, ROC22
Gene	UniProtKB-ID: CE104_HUMAN UniprotKB: O60308 UniParc: UPI0000247007, UPI000053E935, UPI0000139AA8 EMBL: AL691523, BC050721, AB011134, CH471130, BC001640, BC047450, AL365330 Ensembl: ENSG00000116198 KO: hsa:9731
Nucleutide sequences	EMBL-CDS: BAA25488.2, EAW71483.1, EAW71484.1, AAH47450.1, AAH01640.1, AAH50721.1 Ensembl_TRS: ENST00000378223, ENST00000378230
Protein sequencees	Ensembl_PRO: ENSP00000367476, ENSP00000367468 RefSeq: XP_024306870.1, XP_011540776.1, XP_024306876.1, XP_024306871.1, XP_024306869.1, XP_024306874.1, XP_016858408.1, NP_055519.1, XP_016858407.1, XP_005244872.1, XP_024306872.1
Others	UniRef100: UniRef100_O60308 UniRef90: UniRef90_O60308 UniRef50: UniRef50_O60308 UniGene: Hs.133089, Hs.509017 CCDS: CCDS30571.1

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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
32820051	Roles of TOG and jelly-roll domains of centrosomal protein CEP104 in its functions in cilium elongation and Hedgehog signaling. J Biol Chem Takashi Yamazoe , Tomoaki Nagai , Shinya Umeda , Yuko Sugaya , Kensaku Mizuno	2020-10-23	-
31625690	Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome. Mol Genet Genomic Med Minna Luo , Li Cao , Zongfu Cao , Siyu Ma , Yue Shen , Di Yang , Chao Lu , Zaisheng Lin , Zhimin Liu , Yufei Yu , Ruikun Cai , Cuixia Chen , Huafang Gao , Xueyan Wang , Muqing Cao , Xu Ma	2019-12-01	-
30021884	Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Mol Cell Proteomics Domenico Fasci , Hugo van Ingen , Richard A Scheltema , Albert J R Heck	2018-10-01	-
30194290	Interrogating the protein interactomes of RAS isoforms identifies PIP5K1A as a KRAS-specific vulnerability. Nat Commun Hema Adhikari , Christopher M Counter	2018-09-07	-
29507755	VIRMA mediates preferential m⁶A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. Cell Discov Yanan Yue , Jun Liu , Xiaolong Cui , Jie Cao , Guanzheng Luo , Zezhou Zhang , Tao Cheng , Minsong Gao , Xiao Shu , Honghui Ma , Fengqin Wang , Xinxia Wang , Bin Shen , Yizhen Wang , Xinhua Feng , Chuan He , Jianzhao Liu	2018-01-01	-
28065597	A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. Mol. Cell Zhong Yao , Katelyn Darowski , Nicole St-Denis , Victoria Wong , Fabian Offensperger , Annabel Villedieu , Shahreen Amin , Ramy Malty , Hiroyuki Aoki , Hongbo Guo , Yang Xu , Caterina Iorio , Max Kotlyar , Andrew Emili , Igor Jurisica , Benjamin G Neel , Mohan Babu , Anne-Claude Gingras , Igor Stagljar	2017-01-19	-
27402853	Biophysical and Structural Characterization of the Centriolar Protein Cep104 Interaction Network. J Biol Chem Lenka Rezabkova , Sebastian H W Kraatz , Anna Akhmanova , Michel O Steinmetz , Richard A Kammerer	2016-08-26	-
26638075	A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. Cell Gagan D Gupta , Ãtienne Coyaud , JoÃ£o GonÃ§alves , Bahareh A Mojarad , Yi Liu , Qianzhu Wu , Ladan Gheiratmand , David Comartin , Johnny M Tkach , Sally W T Cheung , Mikhail Bashkurov , Monica Hasegan , James D Knight , Zhen-Yuan Lin , Markus Schueler , Friedhelm Hildebrandt , Jason Moffat , Anne-Claude Gingras , Brian Raught , Laurence Pelletier	2015-12-03	TANK, SRA1, LOC100129118, TROAP, PIGK, WASH1, DNAJB6, LOC100506055, TMEM35B, OCLN, LOC100507703, ERVK3-1, RBM14-RBM4, COMMD3-BMI1, UBA2, SAE1, ABCC5, TIMM23B, SCAMP2, SCAMP3, ARPC3, ACTR3, ACTR2, NUBP2, TSFM, RAD50, KIF20A, PREB, ACTR1B, ACTR1A, PDIA6, BCAP31, SUGP2, CEBPZ, ATP6AP2, LPCAT3, WASF2, CDK2, TENM1, TXNDC9, CDK4, ALG3, PRMT3, PSME3, MPHOSPH9, CDK5, TRIM13, FLOT1, PSMD14, MFSD10, STX6, DCAF7, STAM2, ZMPSTE24, STUB1, SIGMAR1, BET1, DNAJA2, PAK4, KATNB1, RTN3, TNIP1, EMC8, CNPY2, TFG, TUBA1B, TUBB4A, TUBB4B, NDRG1, NDC80, NSA2, PGRMC2, TUBGCP3, SEC24B, EMG1, MCRS1, TAB1, BAIAP2, PIBF1, PPIH, ZNHIT1, PFDN6, CLGN, SLC25A17, NXF1, SEC23B, SEC23A, VAT1, NCOA2, HYOU1, IPO8, IPO7, NEBL, DCTN2, PRDX4, ARL6IP5, AGPAT1, RPP38, CCT7
26420826	Mammalian splicing factor SF1 interacts with SURP domains of U2 snRNP-associated proteins. Nucleic Acids Res. Angela Crisci , Flore Raleff , Ivona Bagdiul , Monika Raabe , Henning Urlaub , Jean-Christophe Rain , Angela KrÃ¤mer	2015-12-02	Kpna1, Kpna4, U2af2, Cep104, Sfswap, Cherp, Cltc, 2810403A07Rik, SF3A1, DDX17, CHERP, U2AF2, UHMK1, DDX5, KIAA0907, KPNA6, ABL2, HNRNPAB, PRMT2, KPNA1, KPNA2, PRPF40A, SFSWAP, SF1, SF3A2, RBM17, CEP104, HNRNPDL
26477546	Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. Am. J. Hum. Genet. Myriam Srour , Fadi F Hamdan , Dianalee McKnight , Erica Davis , Hanna Mandel , Jeremy Schwartzentruber , Brissa Martin , Lysanne Patry , Christina Nassif , Alexandre Dionne-Laporte , Luis H Ospina , Emmanuelle Lemyre , Christine Massicotte , Rachel Laframboise , Bruno Maranda , Damian Labuda , Jean-Claude DÃ©carie , FranÃ§oise Rypens , Dorith Goldsher , Catherine Fallet-Bianco , Jean-FranÃ§ois Soucy , Anne-Marie Laberge , Catalina Maftei , Care4Rare Canada Consortium , Kym Boycott , Bernard Brais , RenÃ©e-Myriam Boucher , Guy A Rouleau , Nicholas Katsanis , Jacek Majewski , Orly Elpeleg , Mary K Kukolich , Stavit Shalev , Jacques L Michaud	2015-11-05	-

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