CFAP65 - cilia and flagella associated protein 65-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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255101 CFAP65

基因描述

Type	Description
Definition	cilia and flagella associated protein 65

研究结论

Date	Results	Publications
2021-02-06 13:48:00	Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice.	31501240
2020-06-20 11:50:00	CFAP65 mutations may cause spermatozoa to be completely immotile.	31413122

名称对应

Type	IDs
Synonymous	CCDC108
Gene	UniProtKB-ID: CFA65_HUMAN, Q49A14_HUMAN, B4DZ05_HUMAN, B4DYZ8_HUMAN UniprotKB: Q6ZU64, Q49A14, B4DZ05, B4DYZ8 UniParc: UPI00017A8374, UPI000056F1FA, UPI0000609097, UPI00018818FB, UPI00004DEE76, UPI00017A83A2, UPI00018818FC EMBL: AK302678, AK302688, BC047637, AL833882, AK125957, BC130281, AK127189, AC097468, BC031585 Ensembl: ENSG00000181378 KO: hsa:255101
Nucleutide sequences	EMBL-CDS: BAC86878.1, AAH31585.1, CAD38738.1, BAC86362.1, AAI30282.1, AAH47637.1, BAG63917.1, BAG63910.1 Ensembl_TRS: ENST00000341552, ENST00000295729, ENST00000410037, ENST00000409865, ENST00000453220, ENST00000441968
Protein sequencees	Ensembl_PRO: ENSP00000386258, ENSP00000386945, ENSP00000340776, ENSP00000295729, ENSP00000409117, ENSP00000413377 RefSeq: NP_001265225.1, XP_011509223.1, XP_011509210.1, XP_011509216.1, XP_011509218.1, XP_011509212.1, XP_016859244.1, XP_011509217.1, XP_011509213.1, XP_011509214.1, XP_016859242.1, XP_011509206.1, XP_016859241.1, NP_001265224.1, NP_689602.2, XP_011509221.1, NP_919278.2, XP_011509211.1, XP_016859243.1, XP_011509205.1
Others	UniRef100: UniRef100_B4DZ05, UniRef100_Q6ZU64 UniRef90: UniRef90_Q6ZU64-5, UniRef90_Q6ZU64 UniRef50: UniRef50_Q6ZU64, UniRef50_Q6ZU64-5 UniGene: Hs.147762 CCDS: CCDS63126.1, CCDS2430.2, CCDS2431.2, CCDS63125.1

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mRNA

Protein

UniprotKB

Description

Refseq

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Ensembl: {{protein.nucleotideEnsembl}}

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Ensembl: {{protein.proteinEnsembl}}

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Location

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Pubmed编号	文献信息	发表日期	相关基因
31501240	Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice. J Med Genet Weiyu Li , Huan Wu , Fuping Li , Shixiong Tian , Zine-Eddine Kherraf , Jintao Zhang , Xiaoqing Ni , Mingrong Lv , Chunyu Liu , Qing Tan , Ying Shen , Amir Amiri-Yekta , Caroline Cazin , Jingjing Zhang , Wangjie Liu , Yan Zheng , Huiru Cheng , Yingbi Wu , Jiajia Wang , Yang Gao , Yujie Chen , Xiaomin Zha , Li Jin , Mingxi Liu , Xiaojin He , Pierre F Ray , Yunxia Cao , Feng Zhang	2020-02-01	-
31980649	Extensive rewiring of the EGFR network in colorectal cancer cells expressing transforming levels of KRAS^G13D. Nat Commun Susan A Kennedy , Mohamed-Ali Jarboui , Sriganesh Srihari , Cinzia Raso , Kenneth Bryan , Layal Dernayka , Theodosia Charitou , Manuel Bernal-Llinares , Carlos Herrera-Montavez , Aleksandar Krstic , David Matallanas , Max Kotlyar , Igor Jurisica , Jasna Curak , Victoria Wong , Igor Stagljar , Thierry LeBihan , Lisa Imrie , Priyanka Pillai , Miriam A Lynn , Erik Fasterius , Cristina Al-Khalili Szigyarto , James Breen , Christina Kiel , Luis Serrano , Nora Rauch , Oleksii Rukhlenko , Boris N Kholodenko , Luis F Iglesias-Martinez , Colm J Ryan , Ruth Pilkington , Patrizia Cammareri , Owen Sansom , Steven Shave , Manfred Auer , Nicola Horn , Franziska Klose , Marius Ueffing , Karsten Boldt , David J Lynn , Walter Kolch	2020-01-24	-
31413122	Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations. J. Med. Genet. Weili Wang , Chaofeng Tu , Hongchuan Nie , Lanlan Meng , Yong Li , Shimin Yuan , Qianjun Zhang , Juan Du , Junpu Wang , Fei Gong , Liqing Fan , Guang-Xiu Lu , Ge Lin , Yue-Qiu Tan	2019-11-01	-
26344197	Panorama of ancient metazoan macromolecular complexes. Nature Cuihong Wan , Blake Borgeson , Sadhna Phanse , Fan Tu , Kevin Drew , Greg Clark , Xuejian Xiong , Olga Kagan , Julian Kwan , Alexandr Bezginov , Kyle Chessman , Swati Pal , Graham Cromar , Ophelia Papoulas , Zuyao Ni , Daniel R Boutz , Snejana Stoilova , Pierre C Havugimana , Xinghua Guo , Ramy H Malty , Mihail Sarov , Jack Greenblatt , Mohan Babu , W Brent Derry , Elisabeth R Tillier , John B Wallingford , John Parkinson , Edward M Marcotte , Andrew Emili	2015-09-17	AKT3, MED6, ABI1, GNPDA1, SRA1, TDRD15, HMGN1P30, PDCD6IP, PDCD6, MED16, ADA, CHAF1A, TOM1, RANBP9, SMC4, ARPC4-TTLL3, RBM14-RBM4, RNF103-CHMP3, CHURC1-FNTB, AP1M2, ISY1-RAB43, UBA2, SAE1, FARSB, DNM1L, ABCF2, COX17, SCAMP2, SCAMP3, DPP3, SNUPN, HUWE1, TSSC4, ATP9A, PQBP1, COL4A3BP, PTGES3L-AARSD1, ARPC5, ARPC4, ARPC3, ARPC1B, ACTR3, ACTR2, NUBP2, PPIF, LOC101060521, ARPC2, RAD50, ACTR1B, ACTR1A, ADAM8, LRPPRC, PDIA6, TRAP1, BCAP31, NAMPT, RBM12, G3BP1, ABI2, CEBPZ, TRIM28, AASS, ATP6AP2, WASF2, SLC25A13, CDK2, RBM7, ALYREF, TXNDC9, LOC101929876, PSME3, MPHOSPH10, MPHOSPH6, CDK5, NUTF2, EIF1, DDX39A, PSMD14, CDK7, PLIN3, HNRNPR, MRPS31, CDK8, RABEPK, RIDA, SRRM1, CDK9, STAM2, SF3B4, ZMPSTE24, AKAP8, STUB1, STAG1, UBE4B, PRSS16, SIGMAR1, BET1, CWC27, SAP18
25416956	A proteome-scale map of the human interactome network. Cell Thomas Rolland , Murat TaÅan , Benoit Charloteaux , Samuel J Pevzner , Quan Zhong , Nidhi Sahni , Song Yi , Irma Lemmens , Celia Fontanillo , Roberto Mosca , Atanas Kamburov , Susan D Ghiassian , Xinping Yang , Lila Ghamsari , Dawit Balcha , Bridget E Begg , Pascal Braun , Marc Brehme , Martin P Broly , Anne-Ruxandra Carvunis , Dan Convery-Zupan , Roser Corominas , Jasmin Coulombe-Huntington , Elizabeth Dann , Matija Dreze , AmÃ©lie Dricot , Changyu Fan , Eric Franzosa , Fana Gebreab , Bryan J Gutierrez , Madeleine F Hardy , Mike Jin , Shuli Kang , Ruth Kiros , Guan Ning Lin , Katja Luck , Andrew MacWilliams , JÃ¶rg Menche , Ryan R Murray , Alexandre Palagi , Matthew M Poulin , Xavier Rambout , John Rasla , Patrick Reichert , Viviana Romero , Elien Ruyssinck , Julie M Sahalie , Annemarie Scholz , Akash A Shah , Amitabh Sharma , Yun Shen , Kerstin Spirohn , Stanley Tam , Alexander O Tejeda , Shelly A Trigg , Jean-Claude Twizere , Kerwin Vega , Jennifer Walsh , Michael E Cusick , Yu Xia , Albert-LÃ¡szlÃ³ BarabÃ¡si , Lilia M Iakoucheva , Patrick Aloy , Javier De Las Rivas , Jan Tavernier , Michael A Calderwood , David E Hill , Tong Hao , Frederick P Roth , Marc Vidal	2014-11-20	-
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
22761584	The Rose-comb mutation in chickens constitutes a structural rearrangement causing both altered comb morphology and defective sperm motility. PLoS Genet. Freyja Imsland , Chungang Feng , Henrik Boije , Bertrand Bed'hom , ValÃ©rie Fillon , Ben Dorshorst , Carl-Johan Rubin , Ranran Liu , Yu Gao , Xiaorong Gu , Yanqiang Wang , David Gourichon , Michael C Zody , William Zecchin , Agathe Vieaud , MichÃ¨le Tixier-Boichard , Xiaoxiang Hu , Finn HallbÃ¶Ã¶k , Ning Li , Leif Andersson	2012-06-01	PLEKHA3, FKBP7, CFAP65, CFAP65
21822266	Exome sequencing supports a de novo mutational paradigm for schizophrenia. Nat. Genet. Bin Xu , J Louw Roos , Phillip Dexheimer , Braden Boone , Brooks Plummer , Shawn Levy , Joseph A Gogos , Maria Karayiorgou	2011-09-01	NPRL2, CELF2, KLF12, ADCY7, SLC26A7, SLC26A8, OR4C46, COL3A1, FAM3D, TEKT5, SPATA5, DPYD, ADGRF4, TRAK1, PLCL2, MTOR, CFAP65, GIF, SAP30BP, ZNF530, INPP5A, GPR153, LAMA2, PML, UGT1A3, WDR11, VPS35, EDEM2, PAG1, RGS12, FASTKD5, ACOT6, THBS1, TRRAP, ESAM, ADAMTS3, PITPNM1, RB1CC1, MAGEC1, DGCR2
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	-
16344560	Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Genome Res. Kouichi Kimura , Ai Wakamatsu , Yutaka Suzuki , Toshio Ota , Tetsuo Nishikawa , Riu Yamashita , Jun-ichi Yamamoto , Mitsuo Sekine , Katsuki Tsuritani , Hiroyuki Wakaguri , Shizuko Ishii , Tomoyasu Sugiyama , Kaoru Saito , Yuko Isono , Ryotaro Irie , Norihiro Kushida , Takahiro Yoneyama , Rie Otsuka , Katsuhiro Kanda , Takahide Yokoi , Hiroshi Kondo , Masako Wagatsuma , Katsuji Murakawa , Shinichi Ishida , Tadashi Ishibashi , Asako Takahashi-Fujii , Tomoo Tanase , Keiichi Nagai , Hisashi Kikuchi , Kenta Nakai , Takao Isogai , Sumio Sugano	2006-01-01	Nefm, MED6, CDH2, PDZK1P1, DDTL, ABI1, GNPDA1, GTF2IP4, ZSCAN30, SRA1, TMEM170B, HOTAIR, FAM86JP, LOC100126784, C8orf88, LOC100128006, RAB28P5, MYHAS, CDC42P3, LOC100128979, LOC100128993, KTN1-AS1, LOC100129083, LOC100129204, TOPORS-AS1, LINC00484, ZNF37BP, FAM47E, MRVI1-AS1, ZNF737, LOC100130075, MAPT-IT1, MIR124-2HG, LINC00861, LOC100130238, LOC100130357, PARD6G-AS1, LOC100130547, NFYC-AS1, EFCAB10, LOC100130798, SBK3, LOC100130849, LOC100130872, LOC100130880, LOC100130987, LOC100131047, LINC01135, CKMT2-AS1, ZBTB20-AS1, WDR86-AS1, CCDC183-AS1, SNAP25-AS1, NEMP2, ZNF503-AS2, MIR181A1HG, DBIL5P, HDAC6, MZF1-AS1, ARMCX4, LINC00271, ZNF717, LOC100132057, LOC100132111, CALML3-AS1, NDUFA6-AS1, FRG1HP, FCGR1CP, GXYLT1P3, GOLGA8F, DCAF13P3, IPO5P1, MSC-AS1, SMIM9, FAM66A, CD24, UXT-AS1, JHDM1D-AS1, UBE2Q2P2, TEN1, JMJD7, PLA2G4B, LINC00930, PDCD6IP, HECTD2-AS1, ZFHX4-AS1, FAR2P2, LOC100233156, PCED1B-AS1, PIGK, LOC100270746, LOC100270804, LINC00940, ERVV-2, MEF2B, ZNRF2P2, NFE2L3P2, LINC00894, BCDIN3D-AS1

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