InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Nphp1

Summary

InnateDB Protein

IDBP-205090.6

Last Modified

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

Gene Symbol

Nphp1

Protein Name

nephronophthisis 1 (juvenile) homolog (human)

Synonyms

Species

Mus musculus

Ensembl Protein

ENSMUSP00000028857

InnateDB Gene

IDBG-205088 (Nphp1)

Protein Structure

UniProt Annotation

Function

Together with BCAR1 it may play a role in the control of epithelial cell polarity. Involved in the organization of apical junctions in kidney cells, together with NPHP4 and RPGRIP1L/NPHP8. Does not seem to be strictly required for ciliogenesis. Seems to help to recruit PTK2B/PYK2 to cell matrix adhesions, thereby initiating phosphorylation of PTK2B/PYK2 and PTK2B/PYK2-dependent signaling. May play a role in the regulation of intraflagellar transport (IFT) during cilia assembly. Required for normal retina development. In connecting photoreceptor cilia influences the movement of some IFT proteins such as IFT88 and WDR19. Involved in spermatogenesis; required for the differentiation of early elongating spermatids into spermatozoa. {ECO:0000269PubMed:18684731, ECO:0000269PubMed:19208653, ECO:0000269PubMed:21565611}.

Subcellular Localization

Cell junction, adherens junction. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250}. Cell junction, tight junction. Note=Colocalizes with E-cadherin and BCAR1 at or near the cell-cell adherens junctions. Localized to respiratory cilia axoneme. Localized to the transition zone of respiratory cilia, photoreceptor-connecting cilia and renal monocilia. In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it accumulates to basolateral tight junctions (By similarity). {ECO:0000250}.

Disease Associations

Tissue Specificity

Widespread expression, with highest levels in testis, in cell stages of the first meiotic division and thereafter. Weaker expression in skeletal muscle, kidney, thyroid, ovary, lung, prostate, thymus, uterus, heart and liver. Lowest levels in brain and spleen.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 63 experimentally validated interaction(s) in this database.
They are also associated with 17 interaction(s) predicted by orthology.

Experimentally validated
Total	63 [view]
Protein-Protein	63 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	17 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0030030	cell projection organization
GO:0034613	cellular protein localization
GO:0035845	photoreceptor cell outer segment organization
GO:0048515	spermatid differentiation
GO:0060041	retina development in camera-type eye

Cellular Component

GO:0005737	cytoplasm
GO:0005856	cytoskeleton
GO:0005911	cell-cell junction
GO:0005912	adherens junction
GO:0005923	tight junction
GO:0031514	motile cilium
GO:0032391	photoreceptor connecting cilium
GO:0035869	ciliary transition zone