InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NPHS1

Summary

InnateDB Protein

IDBP-45504.7

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

ENSP00000343634

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.

Experimentally validated
Total	27 [view]
Protein-Protein	20 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	7 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0017022	myosin binding

Biological Process

GO:0007588	excretion
GO:0032836	glomerular basement membrane development
GO:0072015	glomerular visceral epithelial cell development

Cellular Component

GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0036057	slit diaphragm
GO:0070062	extracellular vesicular exosome

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

PFAM

PF00041
PF01108
PF07679
PF07686
PF08205

PRINTS

PIRSF

SMART

SM00408
SM00409
SM00060

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

O60500