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57096 RPGRIP1

57096

RPGRIP1

RPGR interacting protein 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition RPGR interacting protein 1

研究结论

Date Results Publications
2019-10-26 11:02:00 Data indicate that the c. 2889delT (p.P963 fs) mutation in the retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) gene works as a pathogenic mutation that contributes to the progression of Leber congenital amaurosis (LCA). 29193763
2019-06-01 10:08:00 Although the patients had 2 mutated genes in common (RPGRIP1 and TMEM216), they only shared one common mutation in RPGRIP1 gene. Thus, it seems that this common RPGRIP1 mutation is associated with radial polydactyly but probably does not play a significant role in the Wassel type differentiation. 30498907
2019-02-02 11:45:00 Loss of Rpgrip1 expression is associated with Ciliopathy. 29650680
2018-03-10 12:06:00 Gene capture sequencing results found three probands carrying mutations of RPGRIP1, which was known to be associated with pathogenesis of LCA (Leber's congenital amaurosis). By further clinical analysis, two probands were confirmed to be retinitis pigmentosa (RP) patients and one was confirmed to be LCA patient. These novel mutations were co-segregated with the disease phenotype in their families. 28456785
2017-08-19 10:38:00 Neurodevelopmental delay and brain atrophy in the CT scan were reported. Genomic sequencing identified a novel homozygous deletion, c.[420delG], in RPGRIP1. This mutation was not detected in 80 ethnically matched controls and has not been reported elsewhere. CONCLUSIONS: Identifying new mutations in Leber congenital amaurosis-related genes and their clinical manifestations can improve our understanding of the disease and. 27116508

名称对应

Type IDs
Synonymous CORD13, LCA6, RGI1, RGRIP, RPGRIP, RPGRIP1d
Gene
UniProtKB-ID: RPGR1_HUMAN
UniprotKB: Q96KN7
UniParc: UPI000023FF20, UPI00015DFD47, UPI00015DFD46, UPI00000721C8, UPI0000071B81, UPI0000070565
EMBL: BX571740, AJ417058, AF265667, AJ417061, AJ417048, AJ417056, AJ417065, AJ417053, AJ417067, AF227257, AJ417060, AJ417057, AJ417051, AJ417062, AJ417063, AF265666, AJ417059, AJ417049, AJ417050, AJ417055, AJ417064, AJ417054, AL135744, BC039089, AJ417052, AJ417066, AF260257
Ensembl: ENSG00000092200
KO: hsa:57096
Nucleutide sequences
EMBL-CDS: AAG10000.1, CAE11866.1, CAD01136.1, AAG10001.1, AAG10246.1, CAD01135.1, AAF91371.1, AAH39089.1
Ensembl_TRS: ENST00000382933, ENST00000400017
Protein sequencees
Ensembl_PRO: ENSP00000382895, ENSP00000372391
RefSeq: XP_011535284.1, XP_011535281.1, NP_001364452.1, NP_001364880.1, XP_024305431.1, NP_001364879.1, XP_016876962.1, XP_011535283.1, NP_001364878.1, NP_065099.3, XP_005267937.1, XP_005267938.1, XP_024305432.1, XP_024305434.1, XP_005267936.1, NP_001364877.1, XP_011535280.1
Others
UniRef100: UniRef100_Q96KN7
UniRef90: UniRef90_Q96KN7
UniRef50: UniRef50_Q96KN7
UniGene: Hs.126035
CCDS: CCDS45080.1

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