SAMD11 - sterile alpha motif domain containing 11-BMKCloudï½ç¾è¿å®¢äº

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148398 SAMD11

基因描述

Type	Description
Definition	sterile alpha motif domain containing 11

研究结论

Date	Results	Publications
2018-07-21 11:20:00	analysis of a homozygous nonsense mutation in SAMD11 in five individuals diagnosed with adult-onset retinitis pigmentosa; SAMD11 interacts with CRX and is expressed in retina	27734943
2015-12-05 10:57:00	SEZ6L, HISPPD1, FEZF1, SAMD11 gene variants may be associated with autism spectrum disorder.	26204995
2013-11-30 12:36:00	SAMD11 was found to be widely expressed in many cell lines and ocular tissues and its transcription was not regulated by CRX, OTX2 or NR2E3 proteins.	23978614

名称对应

Type	IDs
Synonymous	MRS
Gene	UniProtKB-ID: SAM11_HUMAN UniprotKB: Q96NU1 UniParc: UPI0000D61E04, UPI0000E5925E, UPI0003E30FB2, UPI000013F007, UPI000013FEE5, UPI000387C430 EMBL: JX093071, BC033213, AK054643, AL645608, JX093066, BC024295, JX093070 Ensembl: ENSG00000187634 KO: hsa:148398
Nucleutide sequences	EMBL-CDS: AFP36422.1, AAH33213.1, AAH24295.1, AFP36421.1, BAB70781.1, AFP36417.1 Ensembl_TRS: ENST00000342066
Protein sequencees	Ensembl_PRO: ENSP00000342313 RefSeq: NP_001372569.1, NP_001372570.1, NP_689699.3
Others	UniRef100: UniRef100_Q96NU1 UniRef90: UniRef90_Q96NU1 UniRef50: UniRef50_Q96NU1 UniGene: Hs.335293 CCDS: CCDS2.2

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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}}}

Transcript Veriant:{{protein.transcriptVeriant}}

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Location

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Pubmed编号	文献信息	发表日期	相关基因
32296183	A reference map of the human binary protein interactome. Nature Katja Luck , Dae-Kyum Kim , Luke Lambourne , Kerstin Spirohn , Bridget E Begg , Wenting Bian , Ruth Brignall , Tiziana Cafarelli , Francisco J Campos-Laborie , Benoit Charloteaux , Dongsic Choi , Atina G CotÃ© , Meaghan Daley , Steven Deimling , Alice Desbuleux , AmÃ©lie Dricot , Marinella Gebbia , Madeleine F Hardy , Nishka Kishore , Jennifer J Knapp , IstvÃ¡n A KovÃ¡cs , Irma Lemmens , Miles W Mee , Joseph C Mellor , Carl Pollis , Carles Pons , Aaron D Richardson , Sadie Schlabach , Bridget Teeking , Anupama Yadav , Mariana Babor , Dawit Balcha , Omer Basha , Christian Bowman-Colin , Suet-Feung Chin , Soon Gang Choi , Claudia Colabella , Georges Coppin , Cassandra D'Amata , David De Ridder , Steffi De Rouck , Miquel Duran-Frigola , Hanane Ennajdaoui , Florian Goebels , Liana Goehring , Anjali Gopal , Ghazal Haddad , Elodie Hatchi , Mohamed Helmy , Yves Jacob , Yoseph Kassa , Serena Landini , Roujia Li , Natascha van Lieshout , Andrew MacWilliams , Dylan Markey , Joseph N Paulson , Sudharshan Rangarajan , John Rasla , Ashyad Rayhan , Thomas Rolland , Adriana San-Miguel , Yun Shen , Dayag Sheykhkarimli , Gloria M Sheynkman , Eyal Simonovsky , Murat TaÅan , Alexander Tejeda , Vincent Tropepe , Jean-Claude Twizere , Yang Wang , Robert J Weatheritt , Jochen Weile , Yu Xia , Xinping Yang , Esti Yeger-Lotem , Quan Zhong , Patrick Aloy , Gary D Bader , Javier De Las Rivas , Suzanne Gaudet , Tong Hao , Janusz Rak , Jan Tavernier , David E Hill , Marc Vidal , Frederick P Roth , Michael A Calderwood	2020-04-01	-
29117863	RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. BMC Biol Nila Roy Choudhury , Gregory Heikel , Maryia Trubitsyna , Peter Kubik , Jakub Stanislaw Nowak , Shaun Webb , Sander Granneman , Christos Spanos , Juri Rappsilber , Alfredo Castello , Gracjan Michlewski	2017-11-08	-
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	-
27734943	Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa. Sci Rep M Corton , A Avila-FernÃ¡ndez , L Campello , M SÃ¡nchez , B Benavides , M I LÃ³pez-Molina , L FernÃ¡ndez-SÃ¡nchez , R SÃ¡nchez-Alcudia , L R J da Silva , N Reyes , E MartÃn-Garrido , O Zurita , P FernÃ¡ndez-San JosÃ© , R PÃ©rez-Carro , F GarcÃa-GarcÃa , J Dopazo , B GarcÃa-Sandoval , N Cuenca , C Ayuso	2016-10-13	-
26760575	High-throughput analyses of hnRNP H1 dissects its multi-functional aspect. RNA Biol Philip J Uren , Emad Bahrami-Samani , Patricia Rosa de Araujo , Christine Vogel , Mei Qiao , Suzanne C Burns , Andrew D Smith , Luiz O F Penalva	2016-01-01	-
26204995	Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes. Hum. Genet. Nicola H Chapman , Alejandro Q Nato , Raphael Bernier , Katy Ankenman , Harkirat Sohi , Jeff Munson , Ashok Patowary , Marilyn Archer , Elizabeth M Blue , Sara Jane Webb , Hilary Coon , Wendy H Raskind , Zoran Brkanac , Ellen M Wijsman	2015-10-01	-
26186194	The BioPlex Network: A Systematic Exploration of the Human Interactome. Cell Edward L Huttlin , Lily Ting , Raphael J Bruckner , Fana Gebreab , Melanie P Gygi , John Szpyt , Stanley Tam , Gabriela Zarraga , Greg Colby , Kurt Baltier , Rui Dong , Virginia Guarani , Laura Pontano Vaites , Alban Ordureau , Ramin Rad , Brian K Erickson , Martin WÃ¼hr , Joel Chick , Bo Zhai , Deepak Kolippakkam , Julian Mintseris , Robert A Obar , Tim Harris , Spyros Artavanis-Tsakonas , Mathew E Sowa , Pietro De Camilli , Joao A Paulo , J Wade Harper , Steven P Gygi	2015-07-16	-
23978614	Identification and characterization of novel alternative splice variants of human SAMD11. Gene Guorong Jin , Chongde Long , Weiwei Liu , Yan Tang , Yujuan Zhu , Xin Zhou , Yang Ai , Qingjiong Zhang , Huangxuan Shen	2013-11-10	SAMD11
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	-
16710414	The DNA sequence and biological annotation of human chromosome 1. Nature S G Gregory , K F Barlow , K E McLay , R Kaul , D Swarbreck , A Dunham , C E Scott , K L Howe , K Woodfine , C C A Spencer , M C Jones , C Gillson , S Searle , Y Zhou , F Kokocinski , L McDonald , R Evans , K Phillips , A Atkinson , R Cooper , C Jones , R E Hall , T D Andrews , C Lloyd , R Ainscough , J P Almeida , K D Ambrose , F Anderson , R W Andrew , R I S Ashwell , K Aubin , A K Babbage , C L Bagguley , J Bailey , H Beasley , G Bethel , C P Bird , S Bray-Allen , J Y Brown , A J Brown , D Buckley , J Burton , J Bye , C Carder , J C Chapman , S Y Clark , G Clarke , C Clee , V Cobley , R E Collier , N Corby , G J Coville , J Davies , R Deadman , M Dunn , M Earthrowl , A G Ellington , H Errington , A Frankish , J Frankland , L French , P Garner , J Garnett , L Gay , M R J Ghori , R Gibson , L M Gilby , W Gillett , R J Glithero , D V Grafham , C Griffiths , S Griffiths-Jones , R Grocock , S Hammond , E S I Harrison , E Hart , E Haugen , P D Heath , S Holmes , K Holt , P J Howden , A R Hunt , S E Hunt , G Hunter , J Isherwood , R James , C Johnson , D Johnson , A Joy , M Kay , J K Kershaw , M Kibukawa , A M Kimberley , A King , A J Knights , H Lad , G Laird , S Lawlor , D A Leongamornlert , D M Lloyd , J Loveland , J Lovell , M J Lush , R Lyne , S Martin , M Mashreghi-Mohammadi , L Matthews , N S W Matthews , S McLaren , S Milne , S Mistry , M J F Moore , T Nickerson , C N O'Dell , K Oliver , A Palmeiri , S A Palmer , A Parker , D Patel , A V Pearce , A I Peck , S Pelan , K Phelps , B J Phillimore , R Plumb , J Rajan , C Raymond , G Rouse , C Saenphimmachak , H K Sehra , E Sheridan , R Shownkeen , S Sims , C D Skuce , M Smith , C Steward , S Subramanian , N Sycamore , A Tracey , A Tromans , Z Van Helmond , M Wall , J M Wallis , S White , S L Whitehead , J E Wilkinson , D L Willey , H Williams , L Wilming , P W Wray , Z Wu , A Coulson , M Vaudin , J E Sulston , R Durbin , T Hubbard , R Wooster , I Dunham , N P Carter , G McVean , M T Ross , J Harrow , M V Olson , S Beck , J Rogers , D R Bentley , R Banerjee , S P Bryant , D C Burford , W D H Burrill , S M Clegg , P Dhami , O Dovey , L M Faulkner , S M Gribble , C F Langford , R D Pandian , K M Porter , E Prigmore	2006-05-18	-

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