Version 5.4
Bos taurus Gene: NPHS1
Summary
InnateDB Gene IDBG-636002.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NPHS1
Gene Name nephrin precursor
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000007821
Encoded Proteins
IDBP-687891
nephrosis 1, congenital, Finnish type (nephrin)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000161270:
This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 18:46721282-46739882
Strand Reverse strand
Band
Transcripts
ENSBTAT00000010289 ENSBTAP00000010289
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 18 interaction(s) predicted by orthology.
Predicted by orthology
Total 18 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0017022 myosin binding
Biological Process
GO:0000165 MAPK cascade
GO:0007155 cell adhesion
GO:0007254 JNK cascade
GO:0007519 skeletal muscle tissue development
GO:0007520 myoblast fusion
GO:0030838 positive regulation of actin filament polymerization
GO:0032836 glomerular basement membrane development
GO:0044062 regulation of excretion
GO:0072015 glomerular visceral epithelial cell development
Cellular Component
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0036057 slit diaphragm
GO:0042995 cell projection
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
ENSG00000161270
View Gene Order
ENSMUSG00000006649
View Gene Order
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
REACT_257032
Nephrin interactions pathway
REACT_223082
Cell-Cell communication pathway
KEGG
INOH
PID NCI
nephrin_neph1_pathway
Nephrin/Neph1 signaling in the kidney podocyte
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Bt.86142
RefSeq NM_001192512 XM_005218956 XM_005218957 XM_005218958
HUGO
OMIM
CCDS
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca