RP1 - RP1 axonemal microtubule associated-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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6101 RP1

基因描述

Type	Description
Definition	RP1 axonemal microtubule associated

研究结论

Date	Results	Publications
2020-11-21 13:17:00	Retinitis Pigmentosa Due to Rp1 Biallelic Variants.	32005865
2020-07-11 11:33:00	Homozygous loss-of-function mutations in RP1 gene is associated with retinitis pigmentosa.	31833436
2020-01-25 14:36:00	Since mutations at various points along exon 4 have divergent consequences, genetic testing alone may be insufficient for counseling, but recessive inheritance should be considered likely in severe early-onset cases.	30731082
2019-08-31 11:10:00	These results suggest that rare conditions can be paradoxically determined by relatively common variants, following a quasi-Mendelian model linking monogenic and complex inheritance.	31253780
2019-08-24 12:30:00	Mutations in the RP1 gene are associated with a broad spectrum of progressive retinal dystrophies. In addition to autosomal dominant RP and autosomal recessive retinitis pigmentosa, our study provides further evidence that autosomal recessive cone-rod dystrophy and autosomal recessive macular dystrophy are RP1-associated phenotypes as well.	30913292

名称对应

Type	IDs
Synonymous	DCDC4A, ORP1
Gene	UniProtKB-ID: RP1_HUMAN UniprotKB: P56715 UniParc: UPI000013455B EMBL: AF143224, AF128525, AF152240, AF143222, AF143226, AF152241, AF143225, AF152242, AF141021, AF146592 Ensembl: ENSG00000104237 KO: hsa:6101
Nucleutide sequences	EMBL-CDS: AAD42072.1, AAD44198.1, AAD46769.1, AAD44197.1, AAD46774.1 Ensembl_TRS: ENST00000220676
Protein sequencees	Ensembl_PRO: ENSP00000220676 RefSeq: NP_001362583.1, NP_006260.1, XP_016869647.1, XP_016869211.1, XP_016869646.1, XP_016869210.1
Others	UniRef100: UniRef100_P56715 UniRef90: UniRef90_P56715 UniRef50: UniRef50_P56715 UniGene: Hs.732820 CCDS: CCDS6160.1

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mRNA

Protein

UniprotKB

Description

Refseq

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全选

Pubmed编号	文献信息	发表日期	相关基因
32005865	Retinitis Pigmentosa Due to Rp1 Biallelic Variants. Sci Rep Rita Sousa Silva , Mariana Vallim Salles , Fabiana Louise Motta , Juliana Maria Ferraz Sallum	2020-01-31	-
31833436	Novel homozygous loss-of-function mutations in RP1 and RP1L1 genes in retinitis pigmentosa patients. Ophthalmic Genet. Maan Abdullah Albarry , Jamil Amjad Hashmi , Ahdab Qasem Alreheli , Alia M Albalawi , Bushra Khan , Khushnooda Ramzan , Sulman Basit	2019-12-01	-
31253780	A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy. Nat Commun Konstantinos Nikopoulos , Katarina Cisarova , Mathieu Quinodoz , Hanna Koskiniemi-Kuendig , Noriko Miyake , Pietro Farinelli , Atta Ur Rehman , Muhammad Imran Khan , Andrea Prunotto , Masato Akiyama , Yoichiro Kamatani , Chikashi Terao , Fuyuki Miya , Yasuhiro Ikeda , Shinji Ueno , Nobuo Fuse , Akira Murakami , Yuko Wada , Hiroko Terasaki , Koh-Hei Sonoda , Tatsuro Ishibashi , Michiaki Kubo , Frans P M Cremers , ZoltÃ¡n Kutalik , Naomichi Matsumoto , Koji M Nishiguchi , Toru Nakazawa , Carlo Rivolta	2019-06-28	-
30731082	The Location of Exon 4 Mutations in RP1 Raises Challenges for Genetic Counseling and Gene Therapy. Am. J. Ophthalmol. Anika Nanda , Michelle E McClements , Penny Clouston , Morag E Shanks , Robert E MacLaren	2019-06-01	-
30913292	Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum. Invest. Ophthalmol. Vis. Sci. Sanne K Verbakel , Ramon A C van Huet , Anneke I den Hollander , Maartje J Geerlings , Eveline Kersten , B Jeroen Klevering , Caroline C W Klaver , Astrid S Plomp , Nieneke L Wesseling , Arthur A B Bergen , Konstantinos Nikopoulos , Carlo Rivolta , Yasuhiro Ikeda , Koh-Hei Sonoda , Yuko Wada , Camiel J F Boon , Toru Nakazawa , Carel B Hoyng , Koji M Nishiguchi	2019-03-01	-
30745168	POH1 contributes to hyperactivation of TGF-Î² signaling and facilitates hepatocellular carcinoma metastasis through deubiquitinating TGF-Î² receptors and caveolin-1. EBioMedicine Boshi Wang , Xiaoli Xu , Zhaojuan Yang , Li Zhang , Yun Liu , Aihui Ma , Guiqin Xu , Ming Tang , Tiantian Jing , Lin Wu , Yongzhong Liu	2019-03-01	-
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	-
30027431	Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa. Doc Ophthalmol Kentaro Kurata , Katsuhiro Hosono , Yoshihiro Hotta	2018-08-01	-
29425069	Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa. Genet Test Mol Biomarkers Shujin Li , Mu Yang , Wenjing Liu , Yuqing Liu , Lin Zhang , Yeming Yang , Periasamy Sundaresan , Zhenglin Yang , Xianjun Zhu	2018-02-01	-
27768226	Novel variants of RPGR in X-linked retinitis pigmentosa families and genotype-phenotype correlation. Eur J Ophthalmol Francesco Parmeggiani , Vanessa Barbaro , Angelo Migliorati , Paolo Raffa , Patrizia Nespeca , Katia De Nadai , Claudia Del Vecchio , Giorgio PalÃ¹ , Cristina Parolin , Enzo Di Iorio	2017-03-10	-

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