AP4S1 - adaptor related protein complex 4 subunit sigma 1-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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11154 AP4S1

基因描述

Type	Description
Definition	adaptor related protein complex 4 subunit sigma 1

研究结论

Date	Results	Publications
2017-12-23 12:29:00	Identification of mutations in AP4S1/SPG52 in hereditary spastic paraplegia.	27444738
2016-02-06 10:28:00	Premature stop mutations in AP4S1 result in loss of AP-4 complex assembly and cause fever-sensitive seizures, developmental delay and spastic paraplegia.	25552650

名称对应

Type	IDs
Synonymous	AP47B, CLA20, CLAPS4, CPSQ6, SPG52
Gene	UniProtKB-ID: AP4S1_HUMAN UniprotKB: Q9Y587 UniParc: UPI0000125042, UPI000007194F, UPI0000D4D7FC, UPI000000CBD3 EMBL: BX247969, CH471078, BT006701, AK304115, BX388185, BC001259, AB030654, AL049830, CR457100, AL121808, AF155159 Ensembl: ENSG00000100478 KO: hsa:11154
Nucleutide sequences	EMBL-CDS: BAA82970.1, AAP35347.1, CAG33381.1, CAD62307.1, AAH01259.1, EAW65954.1, EAW65953.1, AAD43329.1, BAG65016.1, EAW65955.1 Ensembl_TRS: ENST00000313566, ENST00000334725, ENST00000542754, ENST00000616371, ENST00000216366, ENST00000622409, ENST00000554345
Protein sequencees	Ensembl_PRO: ENSP00000477631, ENSP00000450768, ENSP00000482876, ENSP00000438170, ENSP00000334484, ENSP00000216366, ENSP00000322508 RefSeq: XP_011534674.1, NP_009008.2, XP_005267350.1, NP_001241655.1, NP_001241658.1, XP_011534673.1, NP_001241656.1, NP_001241657.1, NP_001121598.1
Others	UniRef100: UniRef100_Q9Y587 UniRef90: UniRef90_Q9Y587 UniRef50: UniRef50_Q9Y587 UniGene: Hs.293411 CCDS: CCDS45093.1, CCDS58309.1, CCDS58310.1, CCDS9642.1

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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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Definition: {{{protein.definition}}}

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Location

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Pubmed编号	文献信息	发表日期	相关基因
29568061	An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. Nat Commun Xiaonan Liu , Kari Salokas , Fitsum Tamene , Yaming Jiu , Rigbe G Weldatsadik , Tiina Ãhman , Markku Varjosalo	2018-03-22	-
28700943	A Role for Mitochondrial Translation in Promotion of Viability in K-Ras Mutant Cells. Cell Rep Timothy D Martin , Danielle R Cook , Mei Yuk Choi , Mamie Z Li , Kevin M Haigis , Stephen J Elledge	2017-07-11	-
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	-
28380382	A Single Adaptable Cochaperone-Scaffold Complex Delivers Nascent Iron-Sulfur Clusters to Mammalian Respiratory Chain Complexes I-III. Cell Metab. Nunziata Maio , Ki Soon Kim , Anamika Singh , Tracey A Rouault	2017-04-04	-
28298427	Systematic protein-protein interaction mapping for clinically relevant human GPCRs. Mol Syst Biol Kate Sokolina , Saranya Kittanakom , Jamie Snider , Max Kotlyar , Pascal Maurice , Jorge GandÃa , Abla Benleulmi-Chaachoua , Kenjiro Tadagaki , Atsuro Oishi , Victoria Wong , Ramy H Malty , Viktor Deineko , Hiroyuki Aoki , Shahreen Amin , Zhong Yao , Xavier MoratÃ³ , David Otasek , Hiroyuki Kobayashi , Javier Menendez , Daniel Auerbach , Stephane Angers , Natasa PrÅ¾ulj , Michel Bouvier , Mohan Babu , Francisco Ciruela , Ralf Jockers , Igor Jurisica , Igor Stagljar	2017-03-15	-
27444738	Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families. Eur. J. Neurol. A Tessa , R Battini , A Rubegni , E Storti , C Marini , D Galatolo , R Pasquariello , F M Santorelli	2016-10-01	-
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
26496610	A human interactome in three quantitative dimensions organized by stoichiometries and abundances. Cell Marco Y Hein , Nina C Hubner , Ina Poser , JÃ¼rgen Cox , Nagarjuna Nagaraj , Yusuke Toyoda , Igor A Gak , Ina Weisswange , JÃ¶rg Mansfeld , Frank Buchholz , Anthony A Hyman , Matthias Mann	2015-10-22	Cep85l, Rcc1, Zbtb48, Bsdc1, Kifc1, Ccp110, Ints4, Slc6a8, Cenpi, Nup107, Xpo1, Fbxw11, Tubg1, Csnk1d, Bap1, Ptpn23, Tecpr2, Slain1, Ankrd28, Prkaa1, Espl1, Gbf1, Cdc20, Cenpf, Trip11, Mbd5, Kif22, Dut, Srsf1, Actb, Spred2, Akt2, Mta1, Tgs1, Pip4k2c, Ankfy1, Apc, Ar, Rhoa, Atp2a2, Atp5a1, Atp7a, Cep131, Bach1, Bcl7c, Bmpr1a, Brca1, Bub1, Bub1b, C1qbp, Anxa2, Calu, Cbx1, Cbx4, Cct2, Cct3, Cct4, Cct7, Cct8, Cd2ap, Cdk1, Cdc37, Cdh1, Chek1, Cit, Copa, Crebbp, Cry1, Csk, Smc3, Dctn1, Ddb1, Cdk2ap1, Mapre1, Ect2, Eef1a1, Eif3a, Mark2, Evpl, Ewsr1, Wdr5, Dclre1b, Fbl, Fgfr1, Flot1, Flot2, B4galt1, Gnb1, Gspt1, Hdac6, Herc2, Hsf1, Hsph1, Elavl1, Id2, Cyr61, Cep250, Insr, Eif3e
25552650	Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly. Hum. Mol. Genet. Katia Hardies , Patrick May , Tania DjÃ©miÃ© , Oana Tarta-Arsene , Tine Deconinck , Dana Craiu , AR working group of the EuroEPINOMICS RES Consortium , Ingo Helbig , Arvid Suls , Rudy Balling , Sarah Weckhuysen , Peter De Jonghe , Jennifer Hirst	2015-04-15	AP4S1
21988832	Toward an understanding of the protein interaction network of the human liver. Mol. Syst. Biol. Jian Wang , Keke Huo , Lixin Ma , Liujun Tang , Dong Li , Xiaobi Huang , Yanzhi Yuan , Chunhua Li , Wei Wang , Wei Guan , Hui Chen , Chaozhi Jin , Juncheng Wei , Wanqiao Zhang , Yongsheng Yang , Qiongming Liu , Ying Zhou , Cuili Zhang , Zhihao Wu , Wangxiang Xu , Ying Zhang , Tao Liu , Donghui Yu , Yaping Zhang , Liang Chen , Dewu Zhu , Xing Zhong , Lixin Kang , Xiang Gan , Xiaolan Yu , Qi Ma , Jing Yan , Li Zhou , Zhongyang Liu , Yunping Zhu , Tao Zhou , Fuchu He , Xiaoming Yang	2011-10-11	-

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