LRC56_HUMAN
ID LRC56_HUMAN Reviewed; 542 AA.
AC Q8IYG6; Q8N3Q4;
DT 04-APR-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 144.
DE RecName: Full=Leucine-rich repeat-containing protein 56;
GN Name=LRRC56;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 378-542, AND VARIANTS GLY-507 AND
RP HIS-523.
RC TISSUE=Amygdala;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP INVOLVEMENT IN CILD39, INTERACTION WITH IFT88, AND VARIANTS CILD39 PRO-140
RP AND 254-GLU--THR-542 DEL.
RX PubMed=30388400; DOI=10.1016/j.ajhg.2018.10.003;
RG Care4Rare Canada Consortium;
RA Bonnefoy S., Watson C.M., Kernohan K.D., Lemos M., Hutchinson S.,
RA Poulter J.A., Crinnion L.A., Berry I., Simmonds J., Vasudevan P.,
RA O'Callaghan C., Hirst R.A., Rutman A., Huang L., Hartley T., Grynspan D.,
RA Moya E., Li C., Carr I.M., Bonthron D.T., Leroux M., Boycott K.M.,
RA Bastin P., Sheridan E.G.;
RT "Biallelic mutations in LRRC56, encoding a protein associated with
RT intraflagellar transport, cause mucociliary clearance and laterality
RT defects.";
RL Am. J. Hum. Genet. 103:727-739(2018).
CC -!- FUNCTION: Required for the assembly of dynein arms.
CC {ECO:0000250|UniProtKB:Q387Y5}.
CC -!- SUBUNIT: Interacts with IFT88. {ECO:0000269|PubMed:30388400}.
CC -!- INTERACTION:
CC Q8IYG6; P55212: CASP6; NbExp=3; IntAct=EBI-14752528, EBI-718729;
CC Q8IYG6; P99999: CYCS; NbExp=3; IntAct=EBI-14752528, EBI-446479;
CC Q8IYG6; O00291: HIP1; NbExp=3; IntAct=EBI-14752528, EBI-473886;
CC Q8IYG6; P30519: HMOX2; NbExp=3; IntAct=EBI-14752528, EBI-712096;
CC Q8IYG6; O75031: HSF2BP; NbExp=3; IntAct=EBI-14752528, EBI-7116203;
CC Q8IYG6; P13473-2: LAMP2; NbExp=3; IntAct=EBI-14752528, EBI-21591415;
CC Q8IYG6; P62826: RAN; NbExp=3; IntAct=EBI-14752528, EBI-286642;
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium
CC {ECO:0000250|UniProtKB:Q387Y5}.
CC -!- DISEASE: Ciliary dyskinesia, primary, 39 (CILD39) [MIM:618254]: A form
CC of primary ciliary dyskinesia, a disorder characterized by
CC abnormalities of motile cilia. Respiratory infections leading to
CC chronic inflammation and bronchiectasis are recurrent, due to defects
CC in the respiratory cilia. Some patients exhibit randomization of left-
CC right body asymmetry and situs inversus. Primary ciliary dyskinesia
CC associated with situs inversus is referred to as Kartagener syndrome.
CC CILD39 inheritance is autosomal recessive.
CC {ECO:0000269|PubMed:30388400}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the LRRC56 family. {ECO:0000305}.
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DR EMBL; BC035937; AAH35937.1; -; mRNA.
DR EMBL; AL831961; CAD38603.1; -; mRNA.
DR CCDS; CCDS7700.1; -.
DR RefSeq; NP_932341.1; NM_198075.3.
DR RefSeq; XP_005252832.1; XM_005252775.2.
DR RefSeq; XP_006718195.1; XM_006718132.2.
DR RefSeq; XP_006718196.1; XM_006718133.2.
DR RefSeq; XP_011518177.1; XM_011519875.2.
DR RefSeq; XP_011518178.1; XM_011519876.1.
DR RefSeq; XP_011518179.1; XM_011519877.2.
DR RefSeq; XP_016872656.1; XM_017017167.1.
DR RefSeq; XP_016872657.1; XM_017017168.1.
DR AlphaFoldDB; Q8IYG6; -.
DR SMR; Q8IYG6; -.
DR BioGRID; 125432; 12.
DR IntAct; Q8IYG6; 15.
DR STRING; 9606.ENSP00000270115; -.
DR iPTMnet; Q8IYG6; -.
DR PhosphoSitePlus; Q8IYG6; -.
DR BioMuta; LRRC56; -.
DR DMDM; 74759709; -.
DR MassIVE; Q8IYG6; -.
DR PaxDb; Q8IYG6; -.
DR PeptideAtlas; Q8IYG6; -.
DR PRIDE; Q8IYG6; -.
DR ProteomicsDB; 71171; -.
DR Antibodypedia; 22521; 34 antibodies from 15 providers.
DR DNASU; 115399; -.
DR Ensembl; ENST00000270115.8; ENSP00000270115.7; ENSG00000161328.11.
DR GeneID; 115399; -.
DR KEGG; hsa:115399; -.
DR MANE-Select; ENST00000270115.8; ENSP00000270115.7; NM_198075.4; NP_932341.1.
DR UCSC; uc010qvz.3; human.
DR CTD; 115399; -.
DR DisGeNET; 115399; -.
DR GeneCards; LRRC56; -.
DR HGNC; HGNC:25430; LRRC56.
DR HPA; ENSG00000161328; Tissue enhanced (pituitary gland, testis).
DR MalaCards; LRRC56; -.
DR MIM; 618227; gene.
DR MIM; 618254; phenotype.
DR neXtProt; NX_Q8IYG6; -.
DR OpenTargets; ENSG00000161328; -.
DR Orphanet; 244; Primary ciliary dyskinesia.
DR PharmGKB; PA142671515; -.
DR VEuPathDB; HostDB:ENSG00000161328; -.
DR eggNOG; KOG0531; Eukaryota.
DR GeneTree; ENSGT00390000001545; -.
DR HOGENOM; CLU_031382_2_0_1; -.
DR InParanoid; Q8IYG6; -.
DR OMA; NPTKGLW; -.
DR OrthoDB; 1557546at2759; -.
DR PhylomeDB; Q8IYG6; -.
DR TreeFam; TF326690; -.
DR PathwayCommons; Q8IYG6; -.
DR SignaLink; Q8IYG6; -.
DR BioGRID-ORCS; 115399; 8 hits in 1074 CRISPR screens.
DR GenomeRNAi; 115399; -.
DR Pharos; Q8IYG6; Tdark.
DR PRO; PR:Q8IYG6; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q8IYG6; protein.
DR Bgee; ENSG00000161328; Expressed in right uterine tube and 91 other tissues.
DR Genevisible; Q8IYG6; HS.
DR GO; GO:0005929; C:cilium; IEA:UniProtKB-SubCell.
DR GO; GO:0030030; P:cell projection organization; IEA:UniProtKB-KW.
DR Gene3D; 3.80.10.10; -; 1.
DR InterPro; IPR001611; Leu-rich_rpt.
DR InterPro; IPR032675; LRR_dom_sf.
DR InterPro; IPR040091; LRRC56.
DR PANTHER; PTHR22708; PTHR22708; 1.
DR PROSITE; PS51450; LRR; 4.
PE 1: Evidence at protein level;
KW Cell projection; Ciliopathy; Cilium biogenesis/degradation;
KW Disease variant; Kartagener syndrome; Leucine-rich repeat;
KW Primary ciliary dyskinesia; Reference proteome; Repeat.
FT CHAIN 1..542
FT /note="Leucine-rich repeat-containing protein 56"
FT /id="PRO_0000229923"
FT REPEAT 94..115
FT /note="LRR 1"
FT REPEAT 117..138
FT /note="LRR 2"
FT REPEAT 139..160
FT /note="LRR 3"
FT REPEAT 161..182
FT /note="LRR 4"
FT REPEAT 186..206
FT /note="LRR 5"
FT DOMAIN 207..250
FT /note="LRRCT"
FT REGION 308..377
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 396..475
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 507..542
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 314..328
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 425..450
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 12
FT /note="R -> Q (in dbSNP:rs2277269)"
FT /id="VAR_034090"
FT VARIANT 140
FT /note="L -> P (in CILD39; dbSNP:rs1564805039)"
FT /evidence="ECO:0000269|PubMed:30388400"
FT /id="VAR_081775"
FT VARIANT 254..542
FT /note="Missing (in CILD39)"
FT /evidence="ECO:0000269|PubMed:30388400"
FT /id="VAR_081776"
FT VARIANT 300
FT /note="R -> H (in dbSNP:rs4963198)"
FT /id="VAR_059694"
FT VARIANT 467
FT /note="R -> Q (in dbSNP:rs12793222)"
FT /id="VAR_061678"
FT VARIANT 507
FT /note="R -> G (in dbSNP:rs10902170)"
FT /evidence="ECO:0000269|PubMed:17974005"
FT /id="VAR_025782"
FT VARIANT 523
FT /note="D -> H (in dbSNP:rs10902171)"
FT /evidence="ECO:0000269|PubMed:17974005"
FT /id="VAR_025783"
SQ SEQUENCE 542 AA; 58733 MW; C37AD1FEB152B9D4 CRC64;
MDLGWDRSRG PRRSTSSVRV RELSWQGLHN PCPQSKGPGS QRDRLGEQLV EEYLSPARLQ
ALARVDDLRL VRTLEMCVDT REGSLGNFGV HLPNLDQLKL NGSHLGSLRD LGTSLGHLQV
LWLARCGLAD LDGIASLPAL KELYASYNNI SDLSPLCLLE QLEVLDLEGN SVEDLGQVRY
LQLCPRLAML TLEGNLVCLQ PAPGPTNKVP RGYNYRAEVR KLIPQLQVLD EVPAAHTGPP
APPRLSQDWL AVKEAIKKGN GLPPLDCPRG APIRRLDPEL SLPETQSRAS RPWPFSLLVR
GGPLPEGLLS EDLAPEDNTS SLTHGAGQVL CGNPTKGLRE RRHQCQAREP PEQLPQHRPG
DPAASTSTPE PDPADSSDFL ALAGLRAWRE HGVRPLPYRH PESQQEGAVA PWGPRRVPEE
QVHQAEPKTP SSPPSLASEP SGTSSQHLVP SPPKHPRPRD SGSSSPRWST DLQSRGRRLR
VLGSWGPGLG DGVAAVPVLR ALEVASRLSP RAQGCPGPKP APDAAARPPR AAELSHPSPV
PT
