LCA5L_HUMAN
ID LCA5L_HUMAN Reviewed; 670 AA.
AC O95447; D3DSI0; Q3ZCT0;
DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-1999, sequence version 1.
DT 03-AUG-2022, entry version 140.
DE RecName: Full=Lebercilin-like protein;
DE AltName: Full=Leber congenital amaurosis 5-like protein;
GN Name=LCA5L; Synonyms=C21orf13;
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 [GENOMIC DNA].
RA Rump A., Taudien S., Dagand E., Hildmann T., Nordsiek G., Drescher B.,
RA Schattevoy R., Weber J., Schilling M., Menzel U., Yaspo M.-L.,
RA Rosenthal A.;
RL Submitted (JAN-1999) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=10830953; DOI=10.1038/35012518;
RA Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S.,
RA Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M.,
RA Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A., Menzel U.,
RA Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A.,
RA Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J.,
RA Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K.,
RA Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G.,
RA Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J.,
RA Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S.,
RA Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K.,
RA Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.;
RT "The DNA sequence of human chromosome 21.";
RL Nature 405:311-319(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT SER-547.
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).
CC -!- INTERACTION:
CC O95447; P05067-2: APP; NbExp=3; IntAct=EBI-8473670, EBI-17264467;
CC O95447; P54253: ATXN1; NbExp=3; IntAct=EBI-8473670, EBI-930964;
CC O95447; Q8NCU1: CCDC197; NbExp=3; IntAct=EBI-8473670, EBI-750686;
CC O95447; Q9NQT4: EXOSC5; NbExp=3; IntAct=EBI-8473670, EBI-371876;
CC O95447; O94868-3: FCHSD2; NbExp=3; IntAct=EBI-8473670, EBI-11958845;
CC O95447; P28799: GRN; NbExp=3; IntAct=EBI-8473670, EBI-747754;
CC O95447; P42858: HTT; NbExp=18; IntAct=EBI-8473670, EBI-466029;
CC O95447; Q70UQ0-4: IKBIP; NbExp=3; IntAct=EBI-8473670, EBI-12190633;
CC O95447; O60333-2: KIF1B; NbExp=3; IntAct=EBI-8473670, EBI-10975473;
CC O95447; O95678: KRT75; NbExp=3; IntAct=EBI-8473670, EBI-2949715;
CC O95447; Q01546: KRT76; NbExp=3; IntAct=EBI-8473670, EBI-2952745;
CC O95447; Q6KB66-2: KRT80; NbExp=3; IntAct=EBI-8473670, EBI-11999246;
CC O95447; Q14533: KRT81; NbExp=3; IntAct=EBI-8473670, EBI-739648;
CC O95447; Q13287: NMI; NbExp=6; IntAct=EBI-8473670, EBI-372942;
CC O95447; Q96AQ6: PBXIP1; NbExp=3; IntAct=EBI-8473670, EBI-740845;
CC O95447; P41219: PRPH; NbExp=3; IntAct=EBI-8473670, EBI-752074;
CC O95447; Q9UBB9: TFIP11; NbExp=6; IntAct=EBI-8473670, EBI-1105213;
CC O95447; P06753: TPM3; NbExp=4; IntAct=EBI-8473670, EBI-355607;
CC O95447; Q5VU62: TPM3; NbExp=3; IntAct=EBI-8473670, EBI-10184033;
CC O95447; Q3SY00: TSGA10IP; NbExp=3; IntAct=EBI-8473670, EBI-10241197;
CC O95447; O76024: WFS1; NbExp=3; IntAct=EBI-8473670, EBI-720609;
CC O95447; Q8N5A5-2: ZGPAT; NbExp=3; IntAct=EBI-8473670, EBI-10183064;
CC -!- SIMILARITY: Belongs to the LCA5 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAB90455.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AF121781; AAD12066.1; -; Genomic_DNA.
DR EMBL; AL163279; CAB90455.1; ALT_INIT; Genomic_DNA.
DR EMBL; CH471079; EAX09641.1; -; Genomic_DNA.
DR EMBL; CH471079; EAX09642.1; -; Genomic_DNA.
DR EMBL; CH471079; EAX09644.1; -; Genomic_DNA.
DR EMBL; BC031059; AAH31059.1; -; mRNA.
DR EMBL; BC043006; AAH43006.1; -; mRNA.
DR CCDS; CCDS13665.1; -.
DR RefSeq; NP_689718.1; NM_152505.3.
DR RefSeq; XP_005260983.1; XM_005260926.1.
DR RefSeq; XP_006724030.1; XM_006723967.1.
DR AlphaFoldDB; O95447; -.
DR SMR; O95447; -.
DR BioGRID; 127258; 28.
DR IntAct; O95447; 27.
DR MINT; O95447; -.
DR STRING; 9606.ENSP00000351008; -.
DR CarbonylDB; O95447; -.
DR iPTMnet; O95447; -.
DR PhosphoSitePlus; O95447; -.
DR BioMuta; LCA5L; -.
DR EPD; O95447; -.
DR jPOST; O95447; -.
DR MassIVE; O95447; -.
DR PaxDb; O95447; -.
DR PeptideAtlas; O95447; -.
DR PRIDE; O95447; -.
DR ProteomicsDB; 50882; -.
DR Antibodypedia; 8988; 132 antibodies from 18 providers.
DR DNASU; 150082; -.
DR Ensembl; ENST00000288350.8; ENSP00000288350.3; ENSG00000157578.14.
DR Ensembl; ENST00000358268.6; ENSP00000351008.2; ENSG00000157578.14.
DR Ensembl; ENST00000380671.6; ENSP00000370046.2; ENSG00000157578.14.
DR GeneID; 150082; -.
DR KEGG; hsa:150082; -.
DR MANE-Select; ENST00000288350.8; ENSP00000288350.3; NM_152505.4; NP_689718.1.
DR UCSC; uc002yxv.4; human.
DR CTD; 150082; -.
DR GeneCards; LCA5L; -.
DR HGNC; HGNC:1255; LCA5L.
DR HPA; ENSG00000157578; Tissue enriched (testis).
DR neXtProt; NX_O95447; -.
DR OpenTargets; ENSG00000157578; -.
DR PharmGKB; PA162393809; -.
DR VEuPathDB; HostDB:ENSG00000157578; -.
DR eggNOG; ENOG502QQSE; Eukaryota.
DR GeneTree; ENSGT00560000077266; -.
DR HOGENOM; CLU_026861_0_0_1; -.
DR InParanoid; O95447; -.
DR OMA; QIMVKHQ; -.
DR OrthoDB; 461316at2759; -.
DR PhylomeDB; O95447; -.
DR TreeFam; TF323306; -.
DR PathwayCommons; O95447; -.
DR SignaLink; O95447; -.
DR BioGRID-ORCS; 150082; 16 hits in 1068 CRISPR screens.
DR GenomeRNAi; 150082; -.
DR Pharos; O95447; Tdark.
DR PRO; PR:O95447; -.
DR Proteomes; UP000005640; Chromosome 21.
DR RNAct; O95447; protein.
DR Bgee; ENSG00000157578; Expressed in left testis and 112 other tissues.
DR ExpressionAtlas; O95447; baseline and differential.
DR Genevisible; O95447; HS.
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 1: Evidence at protein level;
KW Coiled coil; Reference proteome.
FT CHAIN 1..670
FT /note="Lebercilin-like protein"
FT /id="PRO_0000079507"
FT REGION 30..51
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 374..393
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 495..516
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 557..580
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 609..670
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 148..259
FT /evidence="ECO:0000255"
FT COILED 305..336
FT /evidence="ECO:0000255"
FT COILED 420..440
FT /evidence="ECO:0000255"
FT COMPBIAS 35..51
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 557..573
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 631..661
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 17
FT /note="G -> S (in dbSNP:rs2837029)"
FT /id="VAR_021947"
FT VARIANT 547
FT /note="G -> S (in dbSNP:rs11558767)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_042739"
SQ SEQUENCE 670 AA; 76505 MW; F0EE28F8F5AB70F8 CRC64;
MSLADLTKTN IDEHFFGVAL ENNRRSAACK RSPGTGDFSR NSNASNKSVD YSRSQCSCGS
LSSQYDYSED FLCDCSEKAI NRNYLKQPVV KEKEKKKYNV SKISQSKGQK EISVEKKHTW
NASLFNSQIH MIAQRRDAMA HRILSARLHK IKGLKNELAD MHHKLEAILT ENQFLKQLQL
RHLKAIGKYE NSQNNLPQIM AKHQNEVKNL RQLLRKSQEK ERTLSRKLRE TDSQLLKTKD
ILQALQKLSE DKNLAEREEL THKLSIITTK MDANDKKIQS LEKQLRLNCR AFSRQLAIET
RKTLAAQTAT KTLQVEVKHL QQKLKEKDRE LEIKNIYSHR ILKNLHDTED YPKVSSTKSV
QADRKILPFT SMRHQGTQKS DVPPLTTKGK KATGNIDHKE KSTEINHEIP HCVNKLPKQE
DSKRKYEDLS GEEKHLEVQI LLENTGRQKD KKEDQEKKNI FVKEEQELPP KIIEVIHPER
ESNQEDVLVR EKFKRSMQRN GVDDTLGKGT APYTKGPLRQ RRHYSFTEAT ENLHHGLPAS
GGPANAGNMR YSHSTGKHLS NREEMELEHS DSGYEPSFGK SSRIKVKDTT FRDKKSSLME
ELFGSGYVLK TDQSSPGVAK GSEEPLQSKE SHPLPPSQAS TSHAFGDSKV TVVNSIKPSS
PTEGKRKIII
