| Type | Description |
|---|---|
| Definition | nephrocystin 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-02-02 13:23:00 | Clinical and pathological features and varied mutational spectra of pathogenic genes in 55 Chinese patients with nephronophthisis. | 32173348 |
| 2020-07-18 11:41:00 | Homozygous full gene deletion of the NPHP1 gene was identified in a Chinese family with NPHP, which was the molecular pathogenic basis of this disorder. | 32306954 |
| 2020-06-06 13:58:00 | The genetic investigation revealed a novel homozygous nonsense mutation, p. E697X,37 and a novel homozygous missense mutation, p. F691 L, in the NPHP1 gene. His parents and fraternal twin harbored heterozygous mutations of the two loci and had no renal symptoms. His elder sister developed ESRD and died at 23 years of age. CONCLUSIONS: The report indicated that adult NPHP should be taken into consideration for adults with | 31096956 |
| 2019-10-26 11:31:00 | Report renal pathology in series of patients with nephronophthisis due to NPHP1 gene deletion. | 29949740 |
| 2019-09-14 11:45:00 | we are the first to show in a large cohort that NPH due to NPHP1 homozygous full gene deletions has a prevalence of one in 200 patients (0.5%) in all adult-onset ESRD. | 29654215 |
| Type | IDs |
|---|---|
| Synonymous | JBTS4, NPH1, SLSN1 |
| Gene |
UniProtKB-ID:
NPHP1_HUMAN,
C9JNM7_HUMAN
UniprotKB:
O15259,
C9JNM7
UniParc:
UPI000002AF83,
UPI000198C57A,
UPI0000358960,
UPI0000225633,
UPI00001303E4
EMBL:
AC140479,
AJ001815,
BC062574,
AC013268,
BC009789,
AF023674
Ensembl:
ENSG00000144061
KO:
hsa:4867
|
| Nucleutide sequences |
EMBL-CDS:
CAA05030.1,
AAH62574.1,
AAC51771.1
Ensembl_TRS:
ENST00000393272,
ENST00000316534,
ENST00000445609,
ENST00000355301,
ENST00000417665
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000376953,
ENSP00000313169,
ENSP00000389879,
ENSP00000347452,
ENSP00000402176
RefSeq:
XP_011509546.1,
XP_005263733.1,
XP_006712614.1,
XP_005263735.1,
NP_001121650.1,
NP_001361186.1,
NP_001361185.1,
XP_005263734.1,
NP_997064.2,
NP_000263.2,
XP_006712615.1,
NP_001121651.1
|
| Others |
UniRef100:
UniRef100_C9JNM7,
UniRef100_O15259
UniRef90:
UniRef90_O15259,
UniRef90_O15259-2
UniRef50:
UniRef50_O15259
UniGene:
Hs.280388
CCDS:
CCDS46386.1,
CCDS46384.1,
CCDS2086.1,
CCDS46385.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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