InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Nphs1

Summary

InnateDB Protein

IDBP-169265.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Nphs1

Protein Name

nephrosis 1 homolog, nephrin (human)

Synonyms

nephrin; NephrinB;

Species

Mus musculus

Ensembl Protein

ENSMUSP00000006825

InnateDB Gene

IDBG-169263 (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. {ECO:0000269PubMed:11136707, ECO:0000269PubMed:12039968, ECO:0000269PubMed:19470472}.

Subcellular Localization

Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Note=Located at podocyte slit diaphragm between podocyte foot processes. {ECO:0000269PubMed:10504499}.

Disease Associations

Tissue Specificity

Expressed in kidney glomeruli. In the embryo, expressed in the mesonephric kidney at E11 with strong expression in cranial tubules with podocyte-like structures. Expression is observed in the podocytes of the developing kidney from E13. High expression is also detected in the developing cerebellum, hindbrain, spinal cord, retina and hypothalamus. Expressed in skeletal muscle during myoblast fusion such as in the adult following acute injury and in the embryo but not detected in uninjured adult skeletal muscle. Isoform 1 and isoform 2 are expressed in the newborn brain and developing cerebellum. Isoform 1 is the predominant isoform in adult kidney. {ECO:0000269PubMed:10820162, ECO:0000269PubMed:11136707, ECO:0000269PubMed:12538735, ECO:0000269PubMed:19470472, ECO:0000269PubMed:19887377}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 13 interaction(s) predicted by orthology.

Experimentally validated
Total	5 [view]
Protein-Protein	5 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	13 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0017022	myosin binding
GO:0019904	protein domain specific binding
GO:0030507	spectrin binding
GO:0051393	alpha-actinin 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:0005887	integral component of plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0036057	slit diaphragm
GO:0042995	cell projection
GO:0043234	protein complex
GO:0045121	membrane raft
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

MGI:1859637

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

Q9QZS7