ID A0A3Q2H4M9_HORSE Unreviewed; 2671 AA.
AC A0A3Q2H4M9;
DT 10-APR-2019, integrated into UniProtKB/TrEMBL.
DT 10-APR-2019, sequence version 1.
DT 27-MAR-2024, entry version 22.
DE SubName: Full=Centrosomal protein 290 {ECO:0000313|Ensembl:ENSECAP00000028238.1};
GN Name=CEP290 {ECO:0000313|Ensembl:ENSECAP00000028238.1,
GN ECO:0000313|VGNC:VGNC:16415};
OS Equus caballus (Horse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Laurasiatheria; Perissodactyla; Equidae; Equus.
OX NCBI_TaxID=9796 {ECO:0000313|Ensembl:ENSECAP00000028238.1, ECO:0000313|Proteomes:UP000002281};
RN [1] {ECO:0000313|Ensembl:ENSECAP00000028238.1, ECO:0000313|Proteomes:UP000002281}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Thoroughbred {ECO:0000313|Ensembl:ENSECAP00000028238.1,
RC ECO:0000313|Proteomes:UP000002281};
RX PubMed=19892987; DOI=10.1126/science.1178158;
RG Broad Institute Genome Sequencing Platform;
RG Broad Institute Whole Genome Assembly Team;
RA Wade C.M., Giulotto E., Sigurdsson S., Zoli M., Gnerre S., Imsland F.,
RA Lear T.L., Adelson D.L., Bailey E., Bellone R.R., Bloecker H., Distl O.,
RA Edgar R.C., Garber M., Leeb T., Mauceli E., MacLeod J.N., Penedo M.C.T.,
RA Raison J.M., Sharpe T., Vogel J., Andersson L., Antczak D.F., Biagi T.,
RA Binns M.M., Chowdhary B.P., Coleman S.J., Della Valle G., Fryc S.,
RA Guerin G., Hasegawa T., Hill E.W., Jurka J., Kiialainen A., Lindgren G.,
RA Liu J., Magnani E., Mickelson J.R., Murray J., Nergadze S.G., Onofrio R.,
RA Pedroni S., Piras M.F., Raudsepp T., Rocchi M., Roeed K.H., Ryder O.A.,
RA Searle S., Skow L., Swinburne J.E., Syvaenen A.C., Tozaki T., Valberg S.J.,
RA Vaudin M., White J.R., Zody M.C., Lander E.S., Lindblad-Toh K.;
RT "Genome sequence, comparative analysis, and population genetics of the
RT domestic horse.";
RL Science 326:865-867(2009).
RN [2] {ECO:0000313|Ensembl:ENSECAP00000028238.1}
RP IDENTIFICATION.
RC STRAIN=Thoroughbred {ECO:0000313|Ensembl:ENSECAP00000028238.1};
RG Ensembl;
RL Submitted (NOV-2023) to UniProtKB.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body
CC {ECO:0000256|ARBA:ARBA00004120}.
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DR Ensembl; ENSECAT00000051398.2; ENSECAP00000028238.1; ENSECAG00000020694.4.
DR VGNC; VGNC:16415; CEP290.
DR GeneTree; ENSGT00730000111039; -.
DR Proteomes; UP000002281; Chromosome 28.
DR Bgee; ENSECAG00000020694; Expressed in retina and 23 other cell types or tissues.
DR GO; GO:0042995; C:cell projection; IEA:UniProtKB-KW.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0005856; C:cytoskeleton; IEA:UniProtKB-KW.
DR GO; GO:0030030; P:cell projection organization; IEA:UniProtKB-KW.
DR InterPro; IPR032321; Cep209_CC5.
DR InterPro; IPR026201; Cep290.
DR PANTHER; PTHR18879; CENTROSOMAL PROTEIN OF 290 KDA; 1.
DR PANTHER; PTHR18879:SF20; CENTROSOMAL PROTEIN OF 290 KDA; 1.
DR Pfam; PF16574; CEP209_CC5; 1.
PE 4: Predicted;
KW Cell projection {ECO:0000256|ARBA:ARBA00023273};
KW Cilium biogenesis/degradation {ECO:0000256|ARBA:ARBA00022794};
KW Coiled coil {ECO:0000256|ARBA:ARBA00023054, ECO:0000256|SAM:Coils};
KW Cytoplasm {ECO:0000256|ARBA:ARBA00022490};
KW Cytoskeleton {ECO:0000256|ARBA:ARBA00023212};
KW Reference proteome {ECO:0000313|Proteomes:UP000002281}.
FT DOMAIN 1290..1417
FT /note="Centrosomal protein of 290kDa coiled-coil region"
FT /evidence="ECO:0000259|Pfam:PF16574"
FT REGION 149..170
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2138..2162
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2177..2255
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 466..566
FT /evidence="ECO:0000256|SAM:Coils"
FT COILED 603..665
FT /evidence="ECO:0000256|SAM:Coils"
FT COILED 699..754
FT /evidence="ECO:0000256|SAM:Coils"
FT COILED 785..865
FT /evidence="ECO:0000256|SAM:Coils"
FT COILED 901..928
FT /evidence="ECO:0000256|SAM:Coils"
FT COILED 963..1028
FT /evidence="ECO:0000256|SAM:Coils"
FT COILED 1074..1108
FT /evidence="ECO:0000256|SAM:Coils"
FT COILED 1291..1325
FT /evidence="ECO:0000256|SAM:Coils"
FT COILED 1350..1393
FT /evidence="ECO:0000256|SAM:Coils"
FT COILED 1468..1495
FT /evidence="ECO:0000256|SAM:Coils"
FT COILED 1543..1581
FT /evidence="ECO:0000256|SAM:Coils"
FT COILED 1642..1936
FT /evidence="ECO:0000256|SAM:Coils"
FT COILED 1978..2036
FT /evidence="ECO:0000256|SAM:Coils"
FT COILED 2471..2553
FT /evidence="ECO:0000256|SAM:Coils"
FT COILED 2577..2643
FT /evidence="ECO:0000256|SAM:Coils"
FT COMPBIAS 2140..2157
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2177..2219
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2239..2255
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 2671 AA; 312407 MW; 89F1E0A9E50CA0DB CRC64;
MPPNINWKEI IKVDPDDLPR QEELADNLLI SLSKVEVNEL KSESQENMIH LFRITQSLMK
MKAQEVELAL EEVEKAGEEQ AKFENQLKTK VMKLENELEM AQQSAGGRDT RFLRDEIRQL
EKQLEQKDRE LEDMEKELEK EKKVNEQLAL RNEEAENENS KLRRENKRLK KKNEQLRQDI
IDYQKQIDSQ KETLLSRRGE DSDYRSQLSK KNSELVQYLD EIQTLTEANE KIEVQNQEMR
KNLEESVQEM EKMTDEYNRM KAVIHQTDNI MDQLKKENDH YRLQVQELTD LLKAKSEEDD
PVMVAVNAKV EEWKLILSSK DDEIIEYQQM LHNLREKLKN AQLDADKSNV MALQQGVQER
DNQIKMLTEQ VEQYTKEMEK NTFIIEDLKN ELQRNKGAST LSQQTHYMKI QSKIQILEEK
TKEAERTAEL AEADAREKDK ELVETLKRLK DYESGVYGLE DAVIEIKNSK NQIKIRDREI
EVLTKEINKL ELKINDFLDE NEALRERVGL EPRTMIDLTE FRNSKNLKQQ QYRAENQILL
KEIESLEEER LDLKRKIRQM AQEKGKRAIT SGLTIEDLNL TENFSQENRM GERKFDFINL
KDMSEAQSKN EFLSREVIEK ERDLERSRTI IAKFQNKLKE LVEENKQLEE GMKEILQAIK
EMQKDPDIKG GETSLIIPSL ERLVNAIESK NAEGIFDANL HLKAQVDQLT GRNEELRQEL
RESRKEAINY SQQLAKANLK IDHLEKETSL LRQSEGSNVV FKAVDLPDGI APSSANIINS
QNEYLILILQ ELEYKENKLK NLEDSLEDYN RKFAVIRHQQ SLLYKEYLSE KETWKIESER
MKEEKRKLED QIQQDAIKVK EYNNLLSGLQ MDSDGMKKVL SENSRKITVL QVNEKSLVRQ
YTTLVEMERQ LRKENEKQKN EWIAMEAEVG ERIGHLQRFK EMAMFKIAAL QKAIDNSVSL
SELELANKQY NELTAKYRDI LQKDNMLVQR TSNLEHLECE NTSLKEQMES LNKELEITKE
KLHTIEQAWE QETKLGNESN MDKAKKSITN SEIVSISKKI TMLEMKELNE RQRAEHSQKM
YEHMRTSLKQ MEERNFELET KFAELTKINL EAQKVEQMLR DELADSVSKT VSDADRQRIL
ELEKHEMELK VEVSKLREIS DIAKRQVEIL TAQQQSREKE VESIRMQLLD YQAQSDEKAL
IAKLHQHIVS LQISEAAALG KLESVTSKLR KTETCNLRLE QKLDEKEQAL YYARLEGRNR
AKHLRQTIQS LRRQFSGALP LAQQEKFSKT MIQLQNDKLK IMQEMKNSQQ EHRSMENKTL
EMELKLKGLE ELISTLKDAR GAQKVIDWHM KIEELRLQEL KLNRELVKDK EEIKYLNNII
SEYEHTISSL EEEIVQQNKF HEERQMAWDQ REVELERQLD IFDRQQNEIL NAAQKFEEAT
GSMPDPSLPL PNQLEIALRK IKENVRIILE TRATCKSLEE KLKEKESALW SAEQNILSRD
KVITELRLRL PATAEREKLI AELGRKEVEP KSHHTLKIAH QTIANMQARL NHKEEVLKKY
QRLLEKAREE QREIVKKHEE DLRILHHKLE LQADSSLHKF KQTAWDLIKQ SPTPVPTNKH
FLRLAEMEQT VAEQDDSLSS LLVKLKKVSQ DLERQKEITE LKIKEFESTK LRLQETHADE
VKKVKAEVED LRYLLAQSQK ETENLKSELQ VQKEANSRAP TTTMKNLVER LKSQLALKEK
QQKALSRALL ELRAEMTAAA EERIISATSQ KEANLNVQQI VDRHTKELKS QVEDLSENLS
KLKEALKTSK SRESSLTDNL NDLTNELQKK QKAYNKMLRE KGEIDQENDE LKRQIKRLTN
GLQGKSLIDN KQSLIEELQK KIKKLESQLE RKMDEAEIKP MKEKSTREEL IRWEEGKKWQ
TKIEGMRNKL KEKEGEVYIL TKQLNTLKDL FAKADKEKLT LQRKLKATGM TVDQVMGVQA
LESEKELEEL KKRNLDLEND ISYMRTHQAL PRDSVIEDLR LQNKYLQEKL HTLEKQFSKD
AYSGPSNLLC DTTTLSTLAT NVNKYRHNIF HKKNTLHRNK KKPITVLRIK NGKGIDASDN
LYHQVPRNIL QCYNNEEKHK AEDIVDFTEL NKSEVRPIDE SSPFRSNNGT LAEFNSNFEN
EPDPEIEKIY QDCCENDKQE HKNKEENELG ENEKGKGNIA EDVSHNSHMD PEESTGEDRD
SAAVAAALTQ CAEEDAQTSG TESDDHCKRE QELQRENLKL SSENIELKFQ LEQANKDLPR
LKNQVGDLKE MCEFLKKEKA EVERKLGHVR GSGRSGKTIP ELEKTIGLMK KVVEKVQREN
EQLKKASGIL TSEKMANIEL ENEKLKAELE KLKVHLGRQL SMRYESKTKG TEKIVAENER
LRKELKKETE AAEKLRIAKN NLEILNEKMT VQLEETGKRL QFAESRGPQL EGADSKSWKS
IVVTRMYETK LKELETDIAR KAQSLTDLKQ LVRQAAEREQ KVKKYTEDLE QQIEILKHIP
EGAETEQGLQ RELQVLRLAN SKLEKEKAEL IHQIEVNKDP SGAESTIPDP DQLKEKVEDL
ETQLQTSDLE KQRLKEEIKK LKKELENFDP SFFEEIEDLK FNYKEEVKKN ILLEEKLKKL
SEQFGVELTS PVAASEQFED EEESPVNFPI Y
//
