LCA5L_MOUSE
ID LCA5L_MOUSE Reviewed; 730 AA.
AC Q8C0X0; B9EJ20; D3YXG9; E9QN53;
DT 29-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 23-MAY-2018, sequence version 2.
DT 03-AUG-2022, entry version 90.
DE RecName: Full=Lebercilin-like protein;
DE AltName: Full=Leber congenital amaurosis 5-like protein;
GN Name=Lca5l {ECO:0000312|MGI:MGI:3041157};
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1] {ECO:0000312|EMBL:BAC26513.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC STRAIN=C57BL/6J {ECO:0000312|EMBL:BAC26513.1};
RC TISSUE=Testis {ECO:0000312|EMBL:BAC26513.1};
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
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).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8C0X0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8C0X0-2; Sequence=VSP_059566;
CC Name=3;
CC IsoId=Q8C0X0-3; Sequence=VSP_059566, VSP_059567;
CC -!- SIMILARITY: Belongs to the LCA5 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC26513.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AK029554; BAC26513.1; ALT_FRAME; mRNA.
DR EMBL; AC164647; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC141285; AAI41286.1; -; mRNA.
DR CCDS; CCDS37413.1; -. [Q8C0X0-2]
DR RefSeq; NP_001001492.2; NM_001001492.2.
DR RefSeq; XP_006523124.1; XM_006523061.3.
DR AlphaFoldDB; Q8C0X0; -.
DR SMR; Q8C0X0; -.
DR STRING; 10090.ENSMUSP00000061337; -.
DR iPTMnet; Q8C0X0; -.
DR PhosphoSitePlus; Q8C0X0; -.
DR PaxDb; Q8C0X0; -.
DR PRIDE; Q8C0X0; -.
DR ProteomicsDB; 286178; -. [Q8C0X0-1]
DR ProteomicsDB; 326234; -.
DR ProteomicsDB; 357762; -.
DR GeneID; 385668; -.
DR KEGG; mmu:385668; -.
DR UCSC; uc008acr.1; mouse.
DR UCSC; uc008acs.1; mouse. [Q8C0X0-1]
DR CTD; 150082; -.
DR MGI; MGI:3041157; Lca5l.
DR eggNOG; ENOG502QQG3; Eukaryota.
DR HOGENOM; CLU_026861_1_0_1; -.
DR InParanoid; Q8C0X0; -.
DR OrthoDB; 461316at2759; -.
DR TreeFam; TF323306; -.
DR BioGRID-ORCS; 385668; 2 hits in 71 CRISPR screens.
DR ChiTaRS; Lca5l; mouse.
DR PRO; PR:Q8C0X0; -.
DR Proteomes; UP000000589; Unplaced.
DR RNAct; Q8C0X0; protein.
DR Genevisible; E9QN53; MM.
DR GO; GO:0005930; C:axoneme; IBA:GO_Central.
DR GO; GO:0042073; P:intraciliary transport; IBA:GO_Central.
DR InterPro; IPR026188; Lebercilin-like.
DR InterPro; IPR028933; Lebercilin_dom.
DR PANTHER; PTHR16650; PTHR16650; 1.
DR Pfam; PF15619; Lebercilin; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Coiled coil; Reference proteome.
FT CHAIN 1..730
FT /note="Lebercilin-like protein"
FT /id="PRO_0000331229"
FT REGION 1..54
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 86..110
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 351..378
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 468..592
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 627..652
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 680..730
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 146..336
FT /evidence="ECO:0000255"
FT COMPBIAS 86..101
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 355..378
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 468..520
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 563..592
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 686..730
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1
FT /note="M -> MRLWTM (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:16141072"
FT /id="VSP_059566"
FT VAR_SEQ 465
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_059567"
FT CONFLICT 428
FT /note="G -> A (in Ref. 1; BAC26513 and 3; AAI41286)"
FT /evidence="ECO:0000305"
FT CONFLICT 564
FT /note="D -> G (in Ref. 1; BAC26513)"
FT /evidence="ECO:0000305"
FT CONFLICT 653
FT /note="A -> G (in Ref. 1; BAC26513)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 730 AA; 81290 MW; A412D1081384D2BB CRC64;
MSLADTTEAH TNEHFPSLAL GSNKKSTEGK RSPGAGGQSQ NSQASNGSVD YSRSQCSCTS
LTSHYDYSED FLSDCSETAV RRLQSEKPLA KAKEKRKYNA GKLPQPRGQK DIPAEKKQFW
NASLISSQIQ TIAKRRDTMT HRILSARLHK IKELKNELAD VHRKLEASAI ENQFLKQLQL
RHLKAIGKYV NSQNNLPQIT AKHQNEVKNL RQLLRKSQEK ERAVSRKLRE TDGELLRTKD
VLQALQRLSE DKNLAEREEL TDRLTDLTAK MEANDKKIQN LEKQLRLNNR SYSRQLAKEN
RKTLAAQTAT KTLQAEVRQL QQKLKEKDRE LEIKNIYTNR ILKNLNDKED YPKVSSTKSV
QADRKSLPSV NMRHQETQKS DVPFWITKGK RGKGNIAHKE KSTETNHDIP YYVCKLPKQE
ESKRKYEGNL TVLKSMPSPP ASWGLVATEQ ICAFHLECHS CTHTADLSKE VEHRKPQTSL
ETPRRPKENK EDQEKRAIPA EAEPTAKESE AHKDAEDKAL TRAAGNAGDA GDAGDAGNDR
EVVGEHKVVG AQEVVGAQEL PGADEADEVH GAGEAPRDVE PGRGRRKTPR KHYSFTEATE
NLHHGLPTSC RQVSGSPHCR CRHDMGKHRS EQELRLEPAG YEPSFGKGAG ARARARARAT
AFRDRKSSLM EELFGAGFAG RAGSSDSEAV SKSPQTGPQA SAGNAFGDSR ATVAGSIQAS
PTEANRKTVV