LRC56_TRYB2
ID LRC56_TRYB2 Reviewed; 751 AA.
AC Q387Y5;
DT 03-JUL-2019, integrated into UniProtKB/Swiss-Prot.
DT 22-NOV-2005, sequence version 1.
DT 25-MAY-2022, entry version 69.
DE RecName: Full=Leucine-rich repeat-containing protein 56 homolog {ECO:0000303|PubMed:30388400};
GN ORFNames=Tb10.61.1230 {ECO:0000312|EMBL:EAN78887.1},
GN Tb927.10.15260 {ECO:0000303|PubMed:30388400};
OS Trypanosoma brucei brucei (strain 927/4 GUTat10.1).
OC Eukaryota; Discoba; Euglenozoa; Kinetoplastea; Metakinetoplastina;
OC Trypanosomatida; Trypanosomatidae; Trypanosoma.
OX NCBI_TaxID=185431;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=927/4 GUTat10.1;
RX PubMed=16020726; DOI=10.1126/science.1112642;
RA Berriman M., Ghedin E., Hertz-Fowler C., Blandin G., Renauld H.,
RA Bartholomeu D.C., Lennard N.J., Caler E., Hamlin N.E., Haas B., Bohme U.,
RA Hannick L., Aslett M.A., Shallom J., Marcello L., Hou L., Wickstead B.,
RA Alsmark U.C.M., Arrowsmith C., Atkin R.J., Barron A.J., Bringaud F.,
RA Brooks K., Carrington M., Cherevach I., Chillingworth T.J., Churcher C.,
RA Clark L.N., Corton C.H., Cronin A., Davies R.M., Doggett J., Djikeng A.,
RA Feldblyum T., Field M.C., Fraser A., Goodhead I., Hance Z., Harper D.,
RA Harris B.R., Hauser H., Hostetler J., Ivens A., Jagels K., Johnson D.,
RA Johnson J., Jones K., Kerhornou A.X., Koo H., Larke N., Landfear S.,
RA Larkin C., Leech V., Line A., Lord A., Macleod A., Mooney P.J., Moule S.,
RA Martin D.M., Morgan G.W., Mungall K., Norbertczak H., Ormond D., Pai G.,
RA Peacock C.S., Peterson J., Quail M.A., Rabbinowitsch E., Rajandream M.A.,
RA Reitter C., Salzberg S.L., Sanders M., Schobel S., Sharp S., Simmonds M.,
RA Simpson A.J., Tallon L., Turner C.M., Tait A., Tivey A.R., Van Aken S.,
RA Walker D., Wanless D., Wang S., White B., White O., Whitehead S.,
RA Woodward J., Wortman J., Adams M.D., Embley T.M., Gull K., Ullu E.,
RA Barry J.D., Fairlamb A.H., Opperdoes F., Barrell B.G., Donelson J.E.,
RA Hall N., Fraser C.M., Melville S.E., El-Sayed N.M.A.;
RT "The genome of the African trypanosome Trypanosoma brucei.";
RL Science 309:416-422(2005).
RN [2]
RP FUNCTION, SUBCELLULAR LOCATION, DISRUPTION PHENOTYPE, AND MUTAGENESIS OF
RP LEU-259.
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 in the distal
CC portion of flagellum axoneme. {ECO:0000269|PubMed:30388400}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium, flagellum
CC {ECO:0000269|PubMed:30388400}. Note=Localizes to the distal portion of
CC the flagellum. {ECO:0000269|PubMed:30388400}.
CC -!- DISRUPTION PHENOTYPE: Gene knockout results in significant reduction of
CC flagellar beating and cell swimming, and absence of outer dynein arms
CC in the distal region of flagellum axoneme. Cell motility is
CC characterized by an erratic swimming pattern with altered propagation
CC of the tip-to-base wave, increased frequency of base-to-tip waves, and
CC frequent tumbling typical of outer dynein arm mutants.
CC {ECO:0000269|PubMed:30388400}.
CC -!- SIMILARITY: Belongs to the LRRC56 family. {ECO:0000305}.
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DR EMBL; CM000208; EAN78887.1; -; Genomic_DNA.
DR RefSeq; XP_827999.1; XM_822906.1.
DR AlphaFoldDB; Q387Y5; -.
DR SMR; Q387Y5; -.
DR STRING; 5691.EAN78887; -.
DR PaxDb; Q387Y5; -.
DR GeneID; 3662775; -.
DR KEGG; tbr:Tb10.61.1230; -.
DR VEuPathDB; TriTrypDB:Tb927.10.15260; -.
DR eggNOG; KOG0531; Eukaryota.
DR InParanoid; Q387Y5; -.
DR OMA; QECIREC; -.
DR Proteomes; UP000008524; Chromosome 10.
DR GO; GO:0060170; C:ciliary membrane; IDA:GeneDB.
DR GO; GO:0031514; C:motile 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; 5.
PE 1: Evidence at protein level;
KW Cell projection; Cilium; Cilium biogenesis/degradation; Flagellum;
KW Leucine-rich repeat; Reference proteome; Repeat.
FT CHAIN 1..751
FT /note="Leucine-rich repeat-containing protein 56 homolog"
FT /id="PRO_0000447545"
FT REPEAT 210..235
FT /note="LRR 1"
FT /evidence="ECO:0000255"
FT REPEAT 236..256
FT /note="LRR 2"
FT /evidence="ECO:0000255"
FT REPEAT 258..279
FT /note="LRR 3"
FT /evidence="ECO:0000255"
FT REPEAT 280..304
FT /note="LRR 4"
FT /evidence="ECO:0000255"
FT REPEAT 307..328
FT /note="LRR 5"
FT /evidence="ECO:0000255"
FT REGION 1..149
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 430..538
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 645..698
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 717..751
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 23..39
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 55..88
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 109..143
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 430..444
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 451..475
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 483..497
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 521..538
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 645..674
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 717..735
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 736..751
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MUTAGEN 259
FT /note="L->P: Reduced cell motility and reduced number of
FT outer dynein arms. Localizes normally to the distal portion
FT of the flagellum."
FT /evidence="ECO:0000269|PubMed:30388400"
SQ SEQUENCE 751 AA; 81909 MW; ECF8BA1C43A7A707 CRC64;
MKKSTVLDAR PTGPLPRRPQ QPSPVEVRNS SQVEKNNARG SWRKLSPLGR QQEEQGGLIH
SQSQSLDTSF APNTNTTLGS TDVNLNSGVR DRPSPRHSIM HRRETRPLLP SNPTDSGVYA
SEDCGSSSAG FPRFSSMGNI DKSRDNGQLP DGLCTGGSEV THSSAVHGEA ITDELLRRLT
RCSDLKSVSS AQFQLDFGTL RCVESISARM PQLNSLKLNN SRITELRVLG TNYANLRRLW
ISNCLVSSVS GVGACAPVLE ELYASFNSIS DIDALTEVSS TLQVVDLEGN DIRDTDMLKR
TLPQLKKMKH LVLKGNPVAS SETIVELSHS SEEKGTRQRK VSYSKLIGHL MPDLQYLDDA
EISNTSLQKS ARVQKKHHSA HVDPLEICIR DEYLFVQECI RECGFDALGA SGADEMHGSC
SRSNVSLISS RSHQLKQNRP SYDRNRPSVA VRSLRKNSQS TASSGDSTNQ GCDGGKPRPS
CQRWGPTQRT SRLFTGRVTS VGAPKARCRQ LPPLKETPAS PSTEGLGNEP GNDGQRQQES
GAMMQLALKP VPPDANSTRG ERKQQNTTSP ICGLTAAKGN VYAFDVCDDD DDELEKSKES
LMHRVRLGNS ATSQQATFMG SGTAKSTNSE LADSGLSFLL HRLSTCTHPS GADPPDQRNE
QQQEQPTTAG ATSRCLDDLE TPGDGPLESL NGTPEKDWEW RRELMQSVVD IRKMTSEAAL
KERVQGSKEV DGGGLEKVES EDEEDVSPVV F
