Type | Description |
---|---|
Definition | IQ motif containing B1 |
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 |
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
|
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Refseq |
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