InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HYDIN

Summary

InnateDB Protein

IDBP-243318.6

Last Modified

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

Gene Symbol

HYDIN

Protein Name

hydrocephalus inducing homolog (mouse)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000377197

InnateDB Gene

IDBG-40648 (HYDIN)

Protein Structure

UniProt Annotation

Function

Required for ciliary motility. {ECO:0000250}.

Subcellular Localization

Cell projection, cilium {ECO:0000305}.

Disease Associations

Ciliary dyskinesia, primary, 5 (CILD5) [MIM:608647]: An autosomal recessive form of primary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD5 is characterized by early onset of a progressive decline in lung function due to an inability to clear mucus and particles from the airways. Affected individuals have recurrent infections of the sinuses, ears, airways, and lungs. Sperm motility is also decreased. Individuals with CILD5 do not have situs inversus. {ECO:0000269PubMed:23022101}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession

GO Term

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