Arl2bp - ADP-ribosylation factor-like 2 binding protein-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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107566 Arl2bp

基因描述

Type	Description
Definition	ADP-ribosylation factor-like 2 binding protein

研究结论

Date	Results	Publications
2020-01-11 10:41:00	Study identified multiple ciliopathy phenotypes associated with mutations in ARL2BP in human patients and in a mouse knockout model. Spermiogenesis is impaired, resulting in abnormally shaped heads, shortened and mis-assembled sperm tails, and loss of axonemal doublets. ARL2BP is required for the structural maintenance of cilia as well as of the sperm flagellum, and that its deficiency leads to syndromic ciliopathy.	31425546
2019-03-30 13:08:00	ARL2BP is necessary for photoreceptor ciliary doublet formation and axoneme elongation.	29718757
2010-01-21 00:00:00	BART is essential for the transcriptional activity and nuclear retention of	18234692

名称对应

Type	IDs
Synonymous	1700010P10Rik, 1700027H16Rik, 6330544B05Rik, AI482273, AI849834, BART, Bart1
Gene	UniProtKB-ID: AR2BP_MOUSE UniprotKB: Q9D385 UniParc: UPI0000023897, UPI00000E7538 EMBL: AK155242, AK161325, BC002131, AK006418, AK006646, BC024708, CT010168, AK018229 Ensembl: ENSMUSG00000031776 KO: mmu:107566
Nucleutide sequences	EMBL-CDS: CAJ18376.1, BAE33143.1, BAB24686.1, AAH24708.1, BAB24578.1, AAH02131.1, BAE36323.1, BAB31126.1 Ensembl_TRS: ENSMUST00000109527, ENSMUST00000034228
Protein sequencees	Ensembl_PRO: ENSMUSP00000105153, ENSMUSP00000034228 RefSeq: NP_077231.1, NP_077153.1
Others	UniRef100: UniRef100_Q9D385 UniRef90: UniRef90_Q9D385 UniRef50: UniRef50_Q9Y2Y0 UniGene: Mm.393247 CCDS: CCDS40440.1, CCDS22545.1

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mRNA

Protein

UniprotKB

Description

Refseq

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Ensembl: {{protein.nucleotideEnsembl}}

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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
32325033	BraInMap Elucidates the Macromolecular Connectivity Landscape of Mammalian Brain. Cell Syst Reza Pourhaghighi , Peter E A Ash , Sadhna Phanse , Florian Goebels , Lucas Z M Hu , Siwei Chen , Yingying Zhang , Shayne D Wierbowski , Samantha Boudeau , Mohamed T Moutaoufik , Ramy H Malty , Edyta Malolepsza , Kalliopi Tsafou , Aparna Nathan , Graham Cromar , Hongbo Guo , Ali Al Abdullatif , Daniel J Apicco , Lindsay A Becker , Aaron D Gitler , Stefan M Pulst , Ahmed Youssef , Ryan Hekman , Pierre C Havugimana , Carl A White , Benjamin C Blum , Antonia Ratti , Camron D Bryant , John Parkinson , Kasper Lage , Mohan Babu , Haiyuan Yu , Gary D Bader , Benjamin Wolozin , Andrew Emili	2020-04-22	-
32290105	Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss. Cells Gayle B Collin , Navdeep Gogna , Bo Chang , Nattaya Damkham , Jai Pinkney , Lillian F Hyde , Lisa Stone , JÃ¼rgen K Naggert , Patsy M Nishina , Mark P Krebs	2020-04-10	-
31425546	Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice. PLoS Genet. Abigail R Moye , Nicola Bedoni , Jessica G Cunningham , Urikhan Sanzhaeva , Eric S Tucker , Peter Mathers , Virginie G Peter , Mathieu Quinodoz , Liliana P Paris , LuÃsa Coutinho-Santos , Pedro Camacho , Madeleine G Purcell , Abbie C Winkelmann , James A Foster , Elena N Pugacheva , Carlo Rivolta , Visvanathan Ramamurthy	2019-08-01	-
29718757	ARL2BP, a protein linked to retinitis pigmentosa, is needed for normal photoreceptor cilia doublets and outer segment structure. Mol. Biol. Cell Abigail R Moye , Ratnesh Singh , Victoria A Kimler , Tanya L Dilan , Daniella Munezero , Thamaraiselvi Saravanan , Andrew F X Goldberg , Visvanathan Ramamurthy	2018-07-01	-
23849777	Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa. Am. J. Hum. Genet. Alice E Davidson , Nele Schwarz , Lina Zelinger , Gabriele Stern-Schneider , Amelia Shoemark , Benjamin Spitzbarth , Menachem Gross , Uri Laxer , Jacob Sosna , Panagiotis I Sergouniotis , Naushin H Waseem , Robert Wilson , Richard A Kahn , Vincent Plagnol , Uwe Wolfrum , Eyal Banin , Alison J Hardcastle , Michael E Cheetham , Dror Sharon , Andrew R Webster	2013-08-08	-
23375831	In vivo and in vitro investigations of heterozygous nebulin knock-out mice disclose a mild skeletal muscle phenotype. Neuromuscul. Disord. C Gineste , J M De Winter , C Kohl , C C Witt , B Giannesini , K Brohm , Y Le Fur , N Gretz , C Vilmen , E Pecchi , M Jubeau , P J Cozzone , G J M Stienen , H Granzier , S Labeit , C A C Ottenheijm , D Bendahan , J Gondin	2013-04-01	-
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	-
21267068	A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. Graciana Diez-Roux , Sandro Banfi , Marc Sultan , Lars Geffers , Santosh Anand , David Rozado , Alon Magen , Elena Canidio , Massimiliano Pagani , Ivana Peluso , Nathalie Lin-Marq , Muriel Koch , Marchesa Bilio , Immacolata Cantiello , Roberta Verde , Cristian De Masi , Salvatore A Bianchi , Juliette Cicchini , Elodie Perroud , Shprese Mehmeti , Emilie Dagand , Sabine Schrinner , Asja NÃ¼rnberger , Katja Schmidt , Katja Metz , Christina Zwingmann , Norbert Brieske , Cindy Springer , Ana Martinez Hernandez , Sarah Herzog , Frauke Grabbe , Cornelia Sieverding , Barbara Fischer , Kathrin Schrader , Maren Brockmeyer , Sarah Dettmer , Christin Helbig , Violaine Alunni , Marie-Annick Battaini , Carole Mura , Charlotte N Henrichsen , Raquel Garcia-Lopez , Diego Echevarria , Eduardo Puelles , Elena Garcia-Calero , Stefan Kruse , Markus Uhr , Christine Kauck , Guangjie Feng , Nestor Milyaev , Chuang Kee Ong , Lalit Kumar , MeiSze Lam , Colin A Semple , Attila Gyenesei , Stefan Mundlos , Uwe Radelof , Hans Lehrach , Paolo Sarmientos , Alexandre Reymond , Duncan R Davidson , Pascal DollÃ© , Stylianos E Antonarakis , Marie-Laure Yaspo , Salvador Martinez , Richard A Baldock , Gregor Eichele , Andrea Ballabio	2011-01-18	-
18287559	GUDMAP: the genitourinary developmental molecular anatomy project. J Am Soc Nephrol Andrew P McMahon , Bruce J Aronow , Duncan R Davidson , Jamie A Davies , Kevin W Gaido , Sean Grimmond , James L Lessard , Melissa H Little , S Steven Potter , Elizabeth L Wilder , Pumin Zhang , GUDMAP project	2008-04-01	-
18234692	BART is essential for nuclear retention of STAT3. Int. Immunol. Ryuta Muromoto , Yuichi Sekine , Seiyu Imoto , Osamu Ikeda , Taichiro Okayama , Noriko Sato , Tadashi Matsuda	2008-03-01	Arl2bp, Stat2, Stat3, Stat4, Arl2, ARL2BP, ARL2, STAT3

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