LCA5_RAT
ID LCA5_RAT Reviewed; 727 AA.
AC Q5U2Y9; Q5XIM2;
DT 02-AUG-2005, integrated into UniProtKB/Swiss-Prot.
DT 07-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 107.
DE RecName: Full=Lebercilin;
DE AltName: Full=Leber congenital amaurosis 5 protein homolog;
GN Name=Lca5;
OS Rattus norvegicus (Rat).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Rattus.
OX NCBI_TaxID=10116;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
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 SUBCELLULAR LOCATION.
RX PubMed=17546029; DOI=10.1038/ng2066;
RA den Hollander A.I., Koenekoop R.K., Mohamed M.D., Arts H.H., Boldt K.,
RA Towns K.V., Sedmak T., Beer M., Nagel-Wolfrum K., McKibbin M.,
RA Dharmaraj S., Lopez I., Ivings L., Williams G.A., Springell K., Woods C.G.,
RA Jafri H., Rashid Y., Strom T.M., van der Zwaag B., Gosens I.,
RA Kersten F.F.J., van Wijk E., Veltman J.A., Zonneveld M.N.,
RA van Beersum S.E.C., Maumenee I.H., Wolfrum U., Cheetham M.E., Ueffing M.,
RA Cremers F.P.M., Inglehearn C.F., Roepman R.;
RT "Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber
RT congenital amaurosis.";
RL Nat. Genet. 39:889-895(2007).
CC -!- FUNCTION: Involved in intraflagellar protein (IFT) transport in
CC photoreceptor cilia. {ECO:0000250|UniProtKB:Q86VQ0}.
CC -!- SUBUNIT: Interacts with NINL. Interacts with OFD1. Interacts with
CC FAM161A. Interacts with FAM161A. Interacts with components of the IFT
CC complex B. {ECO:0000250|UniProtKB:Q86VQ0}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton
CC {ECO:0000250|UniProtKB:Q86VQ0}. Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000250|UniProtKB:Q86VQ0}. Cytoplasm, cytoskeleton, cilium basal
CC body {ECO:0000269|PubMed:17546029}. Note=Localized to the region
CC between the outer and inner photoreceptor segments, corresponding to
CC the photoreceptor connecting cilium. {ECO:0000269|PubMed:17546029}.
CC -!- SIMILARITY: Belongs to the LCA5 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH83657.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; BC083657; AAH83657.1; ALT_FRAME; mRNA.
DR EMBL; BC085805; AAH85805.1; -; mRNA.
DR RefSeq; NP_001013976.1; NM_001013954.1.
DR RefSeq; XP_008764471.1; XM_008766249.2.
DR RefSeq; XP_008764472.1; XM_008766250.2.
DR RefSeq; XP_008764473.1; XM_008766251.2.
DR RefSeq; XP_008764474.1; XM_008766252.2.
DR RefSeq; XP_008764475.1; XM_008766253.2.
DR RefSeq; XP_008764477.1; XM_008766255.2.
DR RefSeq; XP_008764478.1; XM_008766256.2.
DR RefSeq; XP_008764479.1; XM_008766257.1.
DR RefSeq; XP_008764480.1; XM_008766258.2.
DR RefSeq; XP_017451064.1; XM_017595575.1.
DR AlphaFoldDB; Q5U2Y9; -.
DR SMR; Q5U2Y9; -.
DR STRING; 10116.ENSRNOP00000046841; -.
DR iPTMnet; Q5U2Y9; -.
DR PhosphoSitePlus; Q5U2Y9; -.
DR PaxDb; Q5U2Y9; -.
DR PRIDE; Q5U2Y9; -.
DR DNASU; 300866; -.
DR Ensembl; ENSRNOT00000044931; ENSRNOP00000046841; ENSRNOG00000009580.
DR GeneID; 300866; -.
DR KEGG; rno:300866; -.
DR UCSC; RGD:1308555; rat.
DR CTD; 167691; -.
DR RGD; 1308555; Lca5.
DR eggNOG; ENOG502QQG3; Eukaryota.
DR GeneTree; ENSGT00560000077266; -.
DR HOGENOM; CLU_017042_0_0_1; -.
DR InParanoid; Q5U2Y9; -.
DR OMA; SGKSNPF; -.
DR OrthoDB; 344288at2759; -.
DR PhylomeDB; Q5U2Y9; -.
DR TreeFam; TF323306; -.
DR PRO; PR:Q5U2Y9; -.
DR Proteomes; UP000002494; Chromosome 8.
DR Bgee; ENSRNOG00000009580; Expressed in testis and 15 other tissues.
DR ExpressionAtlas; Q5U2Y9; baseline and differential.
DR Genevisible; Q5U2Y9; RN.
DR GO; GO:0005930; C:axoneme; ISO:RGD.
DR GO; GO:0036064; C:ciliary basal body; IDA:UniProtKB.
DR GO; GO:0005929; C:cilium; ISS:UniProtKB.
DR GO; GO:0032391; C:photoreceptor connecting cilium; IDA:UniProtKB.
DR GO; GO:0044877; F:protein-containing complex binding; ISO:RGD.
DR GO; GO:0042073; P:intraciliary transport; ISS:UniProtKB.
DR GO; GO:0045494; P:photoreceptor cell maintenance; ISS:UniProtKB.
DR GO; GO:0015031; P:protein transport; IEA:UniProtKB-KW.
DR InterPro; IPR026684; Lebercilin.
DR InterPro; IPR026188; Lebercilin-like.
DR InterPro; IPR028933; Lebercilin_dom.
DR PANTHER; PTHR16650; PTHR16650; 1.
DR PANTHER; PTHR16650:SF10; PTHR16650:SF10; 1.
DR Pfam; PF15619; Lebercilin; 1.
PE 2: Evidence at transcript level;
KW Cell projection; Cilium; Coiled coil; Cytoplasm; Cytoskeleton;
KW Phosphoprotein; Protein transport; Reference proteome; Transport.
FT CHAIN 1..727
FT /note="Lebercilin"
FT /id="PRO_0000089548"
FT REGION 1..82
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 381..409
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 526..577
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 613..692
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 112..301
FT /evidence="ECO:0000255"
FT COILED 449..480
FT /evidence="ECO:0000255"
FT COMPBIAS 1..21
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 24..50
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 392..409
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 561..577
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 613..652
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 666..690
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 7
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q80ST9"
FT MOD_RES 49
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q86VQ0"
SQ SEQUENCE 727 AA; 82610 MW; 1332F2B14C7FC6B2 CRC64;
MGERDQSSDT DQERKGGKHP YSSHYSSDFG SSPQSSGPSS PVNTPPCASN REKNPKRHLS
DHHVRHQTVR KVSPKAIPNK KGVRVGFRSQ SLNREPLRKD PDIVTKRVLS ARLLKITELQ
NEVSELQVKL AQLLKENKAL KSLQYRQEKA LSKFEDAENE ISQLIHRHNG EITALKERLR
KSQEKERMAE KRVKDTEGEL FRTKFSLQKL KKISEARHLP ERDDLAKKLV SAELKLDNTE
RKIKELSKNL ELSTNSFQRQ LLAERKRAFE AHDENKILQK ELQRLHHKLK EKEKELDIKN
IYANRLPKSS PKKEKEIARK HASCQSDFTD LCTKAVQTAE DFEPEEFPFT AQTVLCYENR
WDGSEYLPSY LEYQERNEHG SESLSSTLEQ EGKYSDDQDS CTAKQETGKS ECEWEREELD
KVKGKSSLLG RTEKLVLEAG SVQTESYQAQ TIDKFQDEAE RLKTEMLLAK LNEINKELQD
PQSLSRPLLP LLPNFESKLY SPDRSLRPYT FSESLDRSFN GQHLSDMSFL TPRDEGQSPG
LIRSPAPSDE FSFGSYVPSF GKTPGKSNPP SQKNSLLDFQ SNMSEGLSKD SLDFISRKEK
KATLMEQLFG TSASASATNT SASTTTNTTT NTNTNTNTNT NTNCNVPSKS IDSHFPAASR
GDLDPLHFLS GDRSSRVREP DGEDEDLFLS EGRSFNPNRH RLKHTSTKPT VTAVDSIDED
IEEVTLR
