InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: LRRC6

Summary

InnateDB Protein

IDBP-35964.6

Last Modified

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

Gene Symbol

LRRC6

Protein Name

leucine rich repeat containing 6

Synonyms

CILD19; LRTP; TSLRP;

Species

Homo sapiens

Ensembl Protein

ENSP00000250173

InnateDB Gene

IDBG-35962 (LRRC6)

Protein Structure

UniProt Annotation

Function

May play a role in dynein arm assembly, hence essential for proper axoneme building for cilia motility. {ECO:0000269PubMed:23122589}.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:23122589}. Cell projection, cilium {ECO:0000269PubMed:23122589}.

Disease Associations

Ciliary dyskinesia, primary, 19 (CILD19) [MIM:614935]: 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. {ECO:0000269PubMed:23122589}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed predominantly in testis and in nasal epithelial cells. {ECO:0000269PubMed:23122589}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	2 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003674	molecular_function
GO:0005515	protein binding

Biological Process

GO:0003341	cilium movement
GO:0008584	male gonad development
GO:0030317	sperm motility
GO:0036158	outer dynein arm assembly
GO:0036159	inner dynein arm assembly
GO:0044458	motile cilium assembly
GO:0060287	epithelial cilium movement involved in determination of left/right asymmetry
GO:0061458	reproductive system development