InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Hydin

Summary

InnateDB Protein

IDBP-191810.6

Last Modified

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

Gene Symbol

Hydin

Protein Name

hydrocephalus inducing

Synonyms

Species

Mus musculus

Ensembl Protein

ENSMUSP00000046204

InnateDB Gene

IDBG-191806 (Hydin)

Protein Structure

UniProt Annotation

Function

Required for ciliary motility. {ECO:0000269PubMed:18250199}.

Subcellular Localization

Cell projection, cilium {ECO:0000305}.

Disease Associations

Note=Defects in Hydin are the cause of spontaneous hydrocephalus 3, a lethal communicating hydrocephalus with perinatal onset. There is lethality in the first weeks of life because of hydrocephalus caused by abnormal ependymal ciliary motility. Cilia are unable to bend normally, ciliary beat frequency is reduced, and the cilia tend to stall. As a result, these cilia are incapable of generating fluid flow. Similar defects are observed for cilia in trachea. Mice do not exhibit randomization of left-right body asymmetry or situs inversus. {ECO:0000269PubMed:12719380, ECO:0000269PubMed:18250199}.

Tissue Specificity

Expressed in brain and testis. Expressed in ciliated epithelial cells lining bronchi and oviduct, and in spermatocytes. {ECO:0000269PubMed:12719380}.

Comments

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 2 interaction(s) predicted by orthology.

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003674	molecular_function
GO:0005198	structural molecule activity

Biological Process

GO:0002064	epithelial cell development
GO:0003341	cilium movement
GO:0007275	multicellular organismal development
GO:0021591	ventricular system development
GO:0042384	cilium assembly
GO:0060438	trachea development