| Type | Description |
|---|---|
| Definition | nephronophthisis 4 (juvenile) homolog (human) |
| Date | Results | Publications |
|---|---|---|
| 2011-07-23 11:15:00 | A mutation in NPHP4 in mice does not result in renal defects which are observed in human patients with mutations in NPHP4, but they do develop severe photoreceptor degeneration and extinguished rod and cone ERG responses. | 21078623 |
| 2010-01-21 00:00:00 | retinitis pigmentosa GTPase regulator interacting protein 1 and nephrocystin-4 interact strongly in vitro and in vivo, and that they colocalize in the retina | 16339905 |
| 2002-09-07 14:59:00 | Recessive mutations in the NPHP4 gene, encoding the protein nephroretinin, in humans cause nephronophthisis type 4 and Senior-Loken. There is evolutionary conservation of the NPHP4 gene, with an orhtolog in C. elegans. | 12205563 |
| Type | IDs |
|---|---|
| Synonymous | 4930564O18Rik, nmf192 |
| Gene |
UniProtKB-ID:
NPHP4_MOUSE
UniprotKB:
P59240
UniParc:
UPI0000193EF3
EMBL:
AY118229,
CH466594,
AL607109,
BC138370,
AL611970
Ensembl:
ENSMUSG00000039577
KO:
mmu:260305
|
| Nucleutide sequences |
EMBL-CDS:
EDL14940.1,
EDL14939.1,
AAM78559.1,
AAI38371.1
Ensembl_TRS:
ENSMUST00000081393,
ENSMUST00000056567
|
| Protein sequencees |
Ensembl_PRO:
ENSMUSP00000049920,
ENSMUSP00000080128
RefSeq:
XP_006538933.1,
NP_001342668.1,
XP_011248559.1,
NP_001342667.1,
XP_036020028.1,
NP_700473.2,
XP_006538931.1,
XP_006538930.1,
XP_006538934.1,
XP_006538932.1,
XP_006538938.1
|
| Others |
UniRef100:
UniRef100_P59240
UniRef90:
UniRef90_P59240
UniRef50:
UniRef50_P59240
UniGene:
Mm.302496
CCDS:
CCDS38985.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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