| Type | Description |
|---|---|
| Definition | nephrocystin 3 |
| 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 |
| 2020-10-24 14:01:00 | Thymosin beta-4 is a novel regulator for primary cilium formation by nephronophthisis 3 in HeLa human cervical cancer cells. | 31048733 |
| 2018-06-09 11:20:00 | Case Report: NPHP3 related nephronophthisis manifesting in the fetal period. | 28921755 |
| 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 |
| 2016-10-29 10:43:00 | NPHP3 mutations were prevalent in Chinese infantile nephronophthisis patients. All patients with NPHP3 mutations showed renal-hepatic phenotype. | 26184788 |
| Type | IDs |
|---|---|
| Synonymous | CFAP31, MKS7, NPH3, RHPD, RHPD1, SLSN3 |
| Gene |
UniProtKB-ID:
NPHP3_HUMAN
UniprotKB:
Q7Z494
UniParc:
UPI000053E93F,
UPI00001B6B30,
UPI0000350B7C,
UPI000053E93E,
UPI0000072B2C,
UPI000053E940,
UPI000036FD58
EMBL:
AL832877,
AK094015,
AL832863,
CR749498,
AK055253,
AY257864,
AK055893,
AY257866,
AB082531,
BC068082,
AY257865
Ensembl:
ENSG00000113971
KO:
hsa:27031
|
| Nucleutide sequences |
EMBL-CDS:
CAH18321.1,
CAI46202.1,
BAB71038.1,
BAB70891.1,
AAP83425.1,
AAH68082.1,
AAP83423.1,
BAC02709.1,
BAC04268.1,
CAI46200.2,
AAP83424.1
Ensembl_TRS:
ENST00000337331,
ENST00000383282
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000372769,
ENSP00000338766
RefSeq:
NP_694972.3
|
| Others |
UniRef100:
UniRef100_Q7Z494
UniRef90:
UniRef90_Q7Z494
UniRef50:
UniRef50_Q7Z494
UniGene:
Hs.511991
CCDS:
CCDS3078.1
|
| {{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