| Type | Description |
|---|---|
| Definition | nephrocystin 4 |
| Date | Results | Publications |
|---|---|---|
| 2020-10-10 12:57:00 | Adult-Diagnosed Nonsyndromic Nephronophthisis in Australian Families Caused by Biallelic NPHP4 Variants. | 31810733 |
| 2018-11-24 12:20:00 | Study provides evidence that KIF13B and NPHP4 are both required for establishment of a specialized caveolin-1 membrane microdomain at the ciliary transition zone, which is essential for Shh-induced accumulation of SMO in the primary cilium as well as for activation of GLI-mediated target gene expression. | 28134340 |
| 2017-08-12 11:14:00 | Inherited 3 deleterious mutations in two nephronophthisis genes, NPHP3 and NPHP4 cause unusually severe form of infantile nephronophthisis. | 28392475 |
| 2015-05-16 11:06:00 | homozygous NPHP4 truncating mutation that expands the phenotypic spectrum of NPHP4-related nephronophthisis to also include cerebello-oculo-renal syndrome and abnormal spermatogenesis causing male infertility | 23574405 |
| 2012-10-20 10:51:00 | The ciliary protein nephrocystin-4 translocates the canonical Wnt regulator Jade-1 to the nucleus to negatively regulate beta-catenin signaling. | 22654112 |
| Type | IDs |
|---|---|
| Synonymous | POC10, SLSN4 |
| Gene |
UniProtKB-ID:
NPHP4_HUMAN,
B3KW36_HUMAN
UniprotKB:
O75161,
B3KW36
UniParc:
UPI0000D476C4,
UPI00001303E5,
UPI0000074519
EMBL:
AB014573,
AL356693,
CH471130,
AK124074,
AY118228,
AF537130,
AL035406,
AL356261,
BC040520
Ensembl:
ENSG00000131697
KO:
hsa:261734
|
| Nucleutide sequences |
EMBL-CDS:
AAN06814.1,
BAA31648.1,
AAM78558.1,
AAH40520.1,
EAW71509.1,
BAG53998.1
Ensembl_TRS:
ENST00000378156,
ENST00000489180,
ENST00000622020
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000367398,
ENSP00000423747,
ENSP00000481831
RefSeq:
NP_055917.1,
XP_016856489.1,
XP_016856492.1,
XP_006710626.1,
XP_011539515.1,
XP_016856490.1,
XP_011539517.1,
XP_016856491.1,
XP_016856487.1,
XP_011539516.1,
XP_011539519.1,
XP_016856488.1,
NP_001278522.1,
XP_016856485.1,
XP_011539520.1,
XP_016856486.1,
NP_001278523.1,
XP_011539518.1
|
| Others |
UniRef100:
UniRef100_B3KW36,
UniRef100_O75161
UniRef90:
UniRef90_B3KW36,
UniRef90_O75161
UniRef50:
UniRef50_B3KW36,
UniRef50_O75161
UniGene:
Hs.462348
CCDS:
CCDS44052.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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