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Kidney Tissue Atlas Ontology
Last uploaded:
March 16, 2024
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| Preferred Name | NPHS1 | |
| Synonyms |
nephrin NPHN CNF |
|
| Definitions |
Other designations: nephrin|renal glomerulus-specific cell adhesion receptor |
|
| ID |
http://purl.obolibrary.org/obo/OGG_3000004868 |
|
| comment |
Other designations: nephrin|renal glomerulus-specific cell adhesion receptor
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|
| Description |
nephrosis 1, congenital, Finnish type (nephrin)
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|
| alternative term |
nephrin NPHN CNF
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|
| chromosome ID of gene |
19
|
|
| database_cross_reference |
HPRD:04094 MIM:602716 Ensembl:ENSG00000161270 Vega:OTTHUMG00000180689 HGNC:7908
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|
| definition source |
WEB: http://www.ncbi.nlm.nih.gov/gene
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|
| full name from nomenclature authority |
nephrosis 1, congenital, Finnish type (nephrin)
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|
| gene map location |
19q13.1
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|
| has GO association |
GO_0005515 (EC: IPI, PMID: 16525419); GO_0005886 (EC: IDA, PMID: 17464107); GO_0005886 (EC: ISS); GO_0005886 (EC: TAS); GO_0005887 (EC: TAS, PMID: 9660941); GO_0007155 (EC: IEA); GO_0007254 (EC: IEA); GO_0007519 (EC: IEA); GO_0007520 (EC: IEA); GO_0007588 (EC: TAS, PMID: 9660941); GO_0017022 (EC: IPI); GO_0019904 (EC: IEA); GO_0030507 (EC: IEA); GO_0030838 (EC: IEA); GO_0032836 (EC: IEP, PMID: 17464107); GO_0036057 (EC: ISS); GO_0042995 (EC: IEA); GO_0043234 (EC: IEA); GO_0044062 (EC: IEA); GO_0045121 (EC: IEA); GO_0051393 (EC: IEA); GO_0070062 (EC: IDA, PMID: 19056867); GO_0072015 (EC: IEP, PMID: 17464107)
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|
| has PubMed association |
PMID: 9660941; 9915943; 10393930; 10550324; 10577936; 10652016; 10997929; 11241530; 11562357; 11692176; 11692461; 11733557; 11854170; 11961028; 12324903; 12368218; 12407641; 12436341; 12495287; 12631336; 12660326; 12663475; 12668668; 12846735; 12853730; 12865409; 12920248; 12961083; 14633607; 14736962; 14747939; 15086927; 15149332; 15167446; 15174051; 15331416; 15339792; 15504938; 15545998; 15634346; 15659563; 15780077; 15942677; 16010520; 16288986; 16525419; 16543952; 16644649; 16968734; 16968782; 17211152; 17255128; 17290294; 17301560; 17371932; 17395751; 17413422; 17464107; 17923684; 18212058; 18258597; 18449463; 18480178; 18503012; 18562307; 18614772; 19056867; 19077682; 19179337; 19321760; 19406966; 19443487; 19470472; 19520069; 19528353; 19587356; 19671286; 19746264; 19812541; 19816048; 19833886; 19913121; 20138859; 20172850; 20237496; 20419132; 20424473; 20457601; 20507940; 20576809; 20628086; 20650908; 21125408; 21321125; 21478284; 21803771; 21980157; 22009864; 22176966; 22194892; 22565185; 22584503; 22615747; 22653594; 22718751; 22747997; 23188823; 23824190; 24219158; 24498843
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| imported from | ||
| is gene marker of cell | ||
| label |
NPHS1
|
|
| modification date |
20140408
|
|
| NCBI GeneID |
4868
|
|
| nomenclature status |
Official from a nomenclature committee
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|
| organism NCBITaxon ID |
9606
|
|
| part_of |
http://purl.obolibrary.org/obo/GO_0005886 http://purl.obolibrary.org/obo/GO_0005887 |
|
| participates_in | ||
| prefixIRI |
OGG:3000004868
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|
| prefLabel |
NPHS1
|
|
| susceptible to be differentially regulated in CKD in cell | ||
| susceptible to be up-regulated in CKD in cell | ||
| symbol from nomenclature authority |
NPHS1
|
|
| term editor |
Bin Zhao, Yue Liu, Oliver He
|
|
| treeView |
http://purl.obolibrary.org/obo/GO_0005886 http://purl.obolibrary.org/obo/GO_0005887 |
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| subClassOf |
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