Homo sapiens Gene: LRRC6
Summary
InnateDB Gene IDBG-35962.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol LRRC6
Gene Name leucine rich repeat containing 6
Synonyms CILD19; LRTP; TSLRP
Species Homo sapiens
Ensembl Gene ENSG00000129295
Encoded Proteins
leucine rich repeat containing 6
leucine rich repeat containing 6
leucine rich repeat containing 6
leucine rich repeat containing 6
leucine rich repeat containing 6
leucine rich repeat containing 6
leucine rich repeat containing 6
leucine rich repeat containing 6
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene contains several leucine-rich repeat domains and appears to be involved in the motility of cilia. Defects in this gene are a cause of primary ciliary dyskinesia-19 (CILD19). Two transcript variants, one protein-coding and the other not, have been found for this gene. [provided by RefSeq, Dec 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:132571953-132675617
Strand Reverse strand
Band q24.22
Transcripts
ENST00000250173 ENSP00000250173
ENST00000519595 ENSP00000429791
ENST00000522789 ENSP00000428015
ENST00000518642 ENSP00000428610
ENST00000522597
ENST00000519085 ENSP00000429158
ENST00000520446
ENST00000523503
ENST00000522584 ENSP00000429811
ENST00000521430
ENST00000518101
ENST00000620350 ENSP00000484634
ENST00000618342 ENSP00000484802
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
Cellular Component
GO:0005737 cytoplasm
GO:0005929 cilium
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.591865
RefSeq NM_012472 XM_006716538 XM_006716539
HUGO
OMIM
CCDS CCDS6365
HPRD 10286
IMGT
EMBL
GenPept
RNA Seq Atlas