| Type | Description |
|---|---|
| Definition | NPHS1 adhesion molecule, nephrin |
| Date | Results | Publications |
|---|---|---|
| 2021-01-09 13:34:00 | [Analysis of a sib-pair with Finnish type congenital nephrotic syndrome due to variant of NPHS1 gene]. | 33306827 |
| 2020-12-12 13:21:00 | Urinary podocyte mRNA is a potent biomarker of anti-neutrophil cytoplasmic antibody-associated glomerulonephritis. | 31768862 |
| 2020-02-29 10:37:00 | The importance of nephrin Y(1139)RSL for healthy podocyte development was supported by population-level analyses of genetic variations at this motif, revealing that such variations are very rare, suggesting that mutations in this motif have autosomal-recessive negative effects on kidney health. | 31152064 |
| 2019-12-07 11:49:00 | Focal segmental glomerulosclerosis (FSGS) is still one of the common causes of refractory nephrotic syndrome. Nephrin, encoded by podocyte-specific NPHS1 gene, participated in the pathogenesis of FSGS. Thirty-two genetic mutations of NPHS1 gene were identified in FSGS patients, including 12 synonymous mutations, 17 missense mutations, 1 splicing mutation, and 2 intron mutations. | 31216994 |
| 2019-11-30 12:19:00 | The aim of the study was to evaluate NPHS1 mutations, its susceptibility to the disease, and their association in children with steroid-resistant NS; mutation frequency of 9% was observed in patients with steroid-resistant nephrotic syndrome, of which, six mutations and two single-nucleotide polymorphisms observed in the study population were found to be novel | 30171708 |
| Type | IDs |
|---|---|
| Synonymous | CNF, NPHN, nephrin |
| Gene |
UniProtKB-ID:
NPHN_HUMAN
UniprotKB:
O60500
UniParc:
UPI000002AF84,
UPI000004EF61
EMBL:
EU642886,
AC002133,
AF035835,
AF126957,
AF190637
Ensembl:
ENSG00000161270
KO:
hsa:4868
|
| Nucleutide sequences |
EMBL-CDS:
AAF36451.1,
AAC39687.1,
ACH99862.1,
AAG17141.1
Ensembl_TRS:
ENST00000378910,
ENST00000353632
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000343634,
ENSP00000368190
RefSeq:
NP_004637.1
|
| Others |
UniRef100:
UniRef100_O60500
UniRef90:
UniRef90_O60500
UniRef50:
UniRef50_O60500
UniGene:
Hs.122186
CCDS:
CCDS32996.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
{{protein.nucleotideVersion}}
Ensembl: {{protein.nucleotideEnsembl}} |
{{protein.proteinVersion}}
Ensembl: {{protein.proteinEnsembl}} |
{{uniprot}} , |
Definition: {{{protein.definition}}}Transcript Veriant:{{protein.transcriptVeriant}} Status: {{protein.status}} |
||||
| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
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}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
||||
暂无数据
| 排名 | 科研单位 | 文献 |
|---|---|---|
| {{affIndex+1}} |
{{aff.value}} |
{{aff.size}} |
目前还没有研究热点单位
| 排名 | 研究人员 | 文献 |
|---|---|---|
| {{authorIndex+1}} |
{{author.value}} |
{{author.size}} |
目前还没有研究热点人员