Kidney Tissue Atlas Ontology

Last uploaded: March 16, 2024
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

Description

nephrosis 1, congenital, Finnish type (nephrin)

alternative term

nephrin

NPHN

CNF

chromosome ID of gene

19

database_cross_reference

HPRD:04094

MIM:602716

Ensembl:ENSG00000161270

Vega:OTTHUMG00000180689

HGNC:7908

definition source

WEB: http://www.ncbi.nlm.nih.gov/gene

full name from nomenclature authority

nephrosis 1, congenital, Finnish type (nephrin)

gene map location

19q13.1

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)

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

imported from

http://purl.obolibrary.org/obo/ogg.owl

is gene marker of cell

http://purl.obolibrary.org/obo/CL_0000653

label

NPHS1

modification date

20140408

NCBI GeneID

4868

nomenclature status

Official from a nomenclature committee

organism NCBITaxon ID

9606

part_of

http://purl.obolibrary.org/obo/GO_0005886

http://purl.obolibrary.org/obo/GO_0005887

http://purl.obolibrary.org/obo/GO_0036057

http://purl.obolibrary.org/obo/GO_0070062

participates_in

http://purl.obolibrary.org/obo/GO_0007155

http://purl.obolibrary.org/obo/GO_0007588

prefixIRI

OGG:3000004868

prefLabel

NPHS1

susceptible to be up-regulated in CKD in cell

http://purl.obolibrary.org/obo/CL_0000653

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

http://purl.obolibrary.org/obo/GO_0036057

http://purl.obolibrary.org/obo/GO_0070062

subClassOf

http://purl.obolibrary.org/obo/OGG_2060009606

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