Homo sapiens Protein: NPHS1 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-45502.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | NPHS1 | ||||||||||||||||||||||
Protein Name | nephrosis 1, congenital, Finnish type (nephrin) | ||||||||||||||||||||||
Synonyms | CNF; nephrin; NPHN; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000368190 | ||||||||||||||||||||||
InnateDB Gene | IDBG-45496 (NPHS1) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Seems to play a role in the development or function of the kidney glomerular filtration barrier. Regulates glomerular vascular permeability. May anchor the podocyte slit diaphragm to the actin cytoskeleton. Plays a role in skeletal muscle formation through regulation of myoblast fusion (By similarity). {ECO:0000250}. | ||||||||||||||||||||||
Subcellular Localization | Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Note=Predominantly located at podocyte slit diaphragm between podocyte foot processes. Also associated with podocyte apical plasma membrane. {ECO:0000269PubMed:10393930, ECO:0000269PubMed:10550324}. | ||||||||||||||||||||||
Disease Associations | Nephrotic syndrome 1 (NPHS1) [MIM:256300]: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. {ECO:0000269PubMed:10652016, ECO:0000269PubMed:11317351, ECO:0000269PubMed:17290294, ECO:0000269PubMed:18503012, ECO:0000269PubMed:18614772, ECO:0000269PubMed:20172850, ECO:0000269PubMed:22009864, ECO:0000269PubMed:9660941, ECO:0000269PubMed:9915943}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | Specifically expressed in podocytes of kidney glomeruli. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 27 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR003598
Immunoglobulin subtype 2 IPR003599 Immunoglobulin subtype IPR003961 Fibronectin, type III IPR007110 Immunoglobulin-like domain IPR013098 Immunoglobulin I-set IPR013106 Immunoglobulin V-set domain IPR013162 CD80-like, immunoglobulin C2-set |
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PFAM |
PF00041
PF01108 PF07679 PF07686 PF08205 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00408
SM00409 SM00060 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | O60500 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-O60500 | ||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 4868 | ||||||||||||||||||||||
UniGene | Hs.122186 | ||||||||||||||||||||||
RefSeq | NP_004637 | ||||||||||||||||||||||
HUGO | HGNC:7908 | ||||||||||||||||||||||
OMIM | 602716 | ||||||||||||||||||||||
CCDS | CCDS32996 | ||||||||||||||||||||||
HPRD | 04094 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AC002133 AF035835 AF126957 AF190637 EU642886 | ||||||||||||||||||||||
GenPept | AAC39687 AAF36451 AAG17141 ACH99862 | ||||||||||||||||||||||