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9657 IQCB1

9657

IQCB1

IQ motif containing B1

protein-coding

Homo sapiens

基因描述

Type Description
Definition IQ motif containing B1

研究结论

Date Results Publications
2020-02-01 10:28:00 During ciliogenesis, the mother centriole transforms into a basal body competent to nucleate a cilium. The mother centriole and basal body possess sub-distal appendages (SDAs) and basal feet (BF), respectively. SDAs are distinguishable from BF and the protein NPHP5 is a novel SDA and BF component. NPHP5 regulates BF assembly. 31177295
2019-12-07 11:49:00 Cone vision improvement potential in LCA due to CEP290 or NPHP5 mutations is predictable from retinal structure using a machine learning approach. This should allow individual prediction of the maximal efficacy in clinical trials and guide decisions about dosing. 31212307
2018-05-26 10:49:00 Study demonstrates the interaction between CNNM4 and IQCB1, which provides the first link between CNNM4 and IQCB1 that causes Leber congenital amaurosis and retinal dystrophy when mutated, providing important insights into the molecular pathogenic mechanisms of retinal dystrophy in Jalili syndrome. 29322253
2017-09-09 12:11:00 that nephrocystin-5 is essential for photoreceptor outer segment formation 27328943
2017-06-24 10:13:00 Dynamic ubiquitination and deubiquitination of NPHP5 plays a crucial role in the regulation of ciliogenesis. NPHP5 directly binds to a deubiquitinating enzyme USP9X/FAM and two E3 ubiquitin ligases BBS11/TRIM32 and MARCH7/axotrophin. 28498859

名称对应

Type IDs
Synonymous NPHP5, PIQ, SLSN5
Gene
UniProtKB-ID: IQCB1_HUMAN
UniprotKB: Q15051
UniParc: UPI0000141509, UPI000006D0CB, UPI0000139154
EMBL: AY964667, AY964668, BC005806, D25278, AY714228, CH471052, AB062481
Ensembl: ENSG00000173226
KO: hsa:9657
Nucleutide sequences
EMBL-CDS: BAA04968.2, BAB93506.1, AAW47233.1, EAW79500.1, AAY46030.1, AAH05806.1, AAY46029.1
Gene_ORFName: OK/SW-cl.85
Ensembl_TRS: ENST00000349820, ENST00000310864, ENST00000393650
Protein sequencees
Ensembl_PRO: ENSP00000377261, ENSP00000311505, ENSP00000323756
RefSeq: NP_001018865.2, NP_001306036.1, XP_016863026.1, XP_005247968.1, XP_011511637.1, XP_016863028.1, NP_001018864.2, XP_024309601.1, XP_005247969.1, XP_024309602.1
Others
UniRef100: UniRef100_Q15051
UniRef90: UniRef90_Q15051
UniRef50: UniRef50_Q15051
UniGene: Hs.604110
CCDS: CCDS33836.1, CCDS33837.1

全选

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