LRRC56
entrez
115399
canonical
uniprot
Q8IYG6
canonical
ensembl
ENSG00000161328
resolver
ensembl
ENSG00000273831
resolver
ensp
ENSP00000270115
resolver
ensp
ENSP00000477831
resolver
ensp
ENSP00000556239
resolver
ensp
ENSP00000556240
resolver
ensp
ENSP00000556241
resolver
ensp
ENSP00000556242
resolver
ensp
ENSP00000556245
resolver
ensp
ENSP00000602480
resolver
ensp
ENSP00000639207
resolver
ensp
ENSP00000639208
resolver
ensp
ENSP00000639212
resolver
enst
ENST00000270115
resolver
enst
ENST00000611111
resolver
enst
ENST00000886180
resolver
enst
ENST00000886182
resolver
enst
ENST00000886183
resolver
enst
ENST00000886186
resolver
enst
ENST00000932421
resolver
enst
ENST00000969148
resolver
enst
ENST00000969149
resolver
genesymbol
LRRC56
resolver
hgnc
HGNC:25430
resolver
uniprot
A0A0G2JLS1
resolver
uniprot
Q8N3Q4
resolver
uniprot_entry
A0A0G2JLS1_HUMAN
resolver
uniprot_entry
LRC56_HUMAN
resolver
uniprot_sec
Q8N3Q4
resolver
amino_acid_sequence
MDLGWDRSRGPRRSTSSVRVRELSWQGLHNPCPQSKGPGSQRDRLGEQLVEEYLSPARLQALARVDDLRLVRTLEMCVDTREGSLGNFGVHLPNLDQLKLNGSHLGSLRDLGTSLGHLQVLWLARCGLADLDGIASLPALKELYASYNNISDLSPLCLLEQLEVLDLEGNSVEDLGQVRYLQLCPRLAMLTLEGNLVCLQPAPGPTNKVPRGYNYRAEVRKLIPQLQVLDEVPAAHTGPPAPPRLSQDWLAVKEAIKKGNGLPPLDCPRGAPIRRLDPELSLPETQSRASRPWPFSLLVRGGPLPEGLLSEDLAPEDNTSSLTHGAGQVLCGNPTKGLRERRHQCQAREPPEQLPQHRPGDPAASTSTPEPDPADSSDFLALAGLRAWREHGVRPLPYRHPESQQEGAVAPWGPRRVPEEQVHQAEPKTPSSPPSLASEPSGTSSQHLVPSPPKHPRPRDSGSSSPRWSTDLQSRGRRLRVLGSWGPGLGDGVAAVPVLRALEVASRLSPRAQGCPGPKPAPDAAARPPRAAELSHPSPVPT
uniprot
proteins
disease_involvement
DISEASE: Ciliary dyskinesia, primary, 39 (CILD39) [MIM:618254]: A form of primary ciliary 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. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD39 inheritance is autosomal recessive. {ECO:0000269|PubMed:30388400}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for the assembly of dynein arms. {ECO:0000250|UniProtKB:Q387Y5}.
uniprot
proteins
mass_dalton
58733
uniprot
proteins
protein_family
LRRC56 family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
30388400
uniprot
proteins
sequence_length
542
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000250|UniProtKB:Q387Y5}.
uniprot
proteins