TALD3_CHICK
ID TALD3_CHICK Reviewed; 1523 AA.
AC Q1G7G9; F1NQN0;
DT 28-NOV-2012, integrated into UniProtKB/Swiss-Prot.
DT 28-NOV-2012, sequence version 2.
DT 03-AUG-2022, entry version 80.
DE RecName: Full=TALPID3 protein;
GN Name=TALPID3;
OS Gallus gallus (Chicken).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda;
OC Coelurosauria; Aves; Neognathae; Galloanserae; Galliformes; Phasianidae;
OC Phasianinae; Gallus.
OX NCBI_TaxID=9031;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, SUBCELLULAR LOCATION, AND
RP FUNCTION.
RX PubMed=16702409; DOI=10.1101/gad.369106;
RA Davey M.G., Paton I.R., Yin Y., Schmidt M., Bangs F.K., Morrice D.R.,
RA Smith T.G., Buxton P., Stamataki D., Tanaka M., Munsterberg A.E.,
RA Briscoe J., Tickle C., Burt D.W.;
RT "The chicken talpid3 gene encodes a novel protein essential for Hedgehog
RT signaling.";
RL Genes Dev. 20:1365-1377(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Red jungle fowl;
RX PubMed=15592404; DOI=10.1038/nature03154;
RA Hillier L.W., Miller W., Birney E., Warren W., Hardison R.C., Ponting C.P.,
RA Bork P., Burt D.W., Groenen M.A.M., Delany M.E., Dodgson J.B.,
RA Chinwalla A.T., Cliften P.F., Clifton S.W., Delehaunty K.D., Fronick C.,
RA Fulton R.S., Graves T.A., Kremitzki C., Layman D., Magrini V.,
RA McPherson J.D., Miner T.L., Minx P., Nash W.E., Nhan M.N., Nelson J.O.,
RA Oddy L.G., Pohl C.S., Randall-Maher J., Smith S.M., Wallis J.W.,
RA Yang S.-P., Romanov M.N., Rondelli C.M., Paton B., Smith J., Morrice D.,
RA Daniels L., Tempest H.G., Robertson L., Masabanda J.S., Griffin D.K.,
RA Vignal A., Fillon V., Jacobbson L., Kerje S., Andersson L.,
RA Crooijmans R.P., Aerts J., van der Poel J.J., Ellegren H., Caldwell R.B.,
RA Hubbard S.J., Grafham D.V., Kierzek A.M., McLaren S.R., Overton I.M.,
RA Arakawa H., Beattie K.J., Bezzubov Y., Boardman P.E., Bonfield J.K.,
RA Croning M.D.R., Davies R.M., Francis M.D., Humphray S.J., Scott C.E.,
RA Taylor R.G., Tickle C., Brown W.R.A., Rogers J., Buerstedde J.-M.,
RA Wilson S.A., Stubbs L., Ovcharenko I., Gordon L., Lucas S., Miller M.M.,
RA Inoko H., Shiina T., Kaufman J., Salomonsen J., Skjoedt K., Wong G.K.-S.,
RA Wang J., Liu B., Wang J., Yu J., Yang H., Nefedov M., Koriabine M.,
RA Dejong P.J., Goodstadt L., Webber C., Dickens N.J., Letunic I., Suyama M.,
RA Torrents D., von Mering C., Zdobnov E.M., Makova K., Nekrutenko A.,
RA Elnitski L., Eswara P., King D.C., Yang S.-P., Tyekucheva S.,
RA Radakrishnan A., Harris R.S., Chiaromonte F., Taylor J., He J.,
RA Rijnkels M., Griffiths-Jones S., Ureta-Vidal A., Hoffman M.M., Severin J.,
RA Searle S.M.J., Law A.S., Speed D., Waddington D., Cheng Z., Tuzun E.,
RA Eichler E., Bao Z., Flicek P., Shteynberg D.D., Brent M.R., Bye J.M.,
RA Huckle E.J., Chatterji S., Dewey C., Pachter L., Kouranov A.,
RA Mourelatos Z., Hatzigeorgiou A.G., Paterson A.H., Ivarie R., Brandstrom M.,
RA Axelsson E., Backstrom N., Berlin S., Webster M.T., Pourquie O.,
RA Reymond A., Ucla C., Antonarakis S.E., Long M., Emerson J.J., Betran E.,
RA Dupanloup I., Kaessmann H., Hinrichs A.S., Bejerano G., Furey T.S.,
RA Harte R.A., Raney B., Siepel A., Kent W.J., Haussler D., Eyras E.,
RA Castelo R., Abril J.F., Castellano S., Camara F., Parra G., Guigo R.,
RA Bourque G., Tesler G., Pevzner P.A., Smit A., Fulton L.A., Mardis E.R.,
RA Wilson R.K.;
RT "Sequence and comparative analysis of the chicken genome provide unique
RT perspectives on vertebrate evolution.";
RL Nature 432:695-716(2004).
RN [3]
RP SUBCELLULAR LOCATION, AND FUNCTION.
RX PubMed=19144723; DOI=10.1242/dev.028464;
RA Yin Y., Bangs F., Paton I.R., Prescott A., James J., Davey M.G.,
RA Whitley P., Genikhovich G., Technau U., Burt D.W., Tickle C.;
RT "The Talpid3 gene (KIAA0586) encodes a centrosomal protein that is
RT essential for primary cilia formation.";
RL Development 136:655-664(2009).
RN [4]
RP DISRUPTION PHENOTYPE.
RX PubMed=23613203; DOI=10.1002/dvdy.23980;
RA Stephen L.A., Davis G.M., McTeir K.E., James J., McTeir L., Kierans M.,
RA Bain A., Davey M.G.;
RT "Failure of centrosome migration causes a loss of motile cilia in talpid(3)
RT mutants.";
RL Dev. Dyn. 242:923-931(2013).
RN [5]
RP FUNCTION.
RX PubMed=26386247; DOI=10.7554/elife.08077;
RA Stephen L.A., Tawamie H., Davis G.M., Tebbe L., Nuernberg P., Nuernberg G.,
RA Thiele H., Thoenes M., Boltshauser E., Uebe S., Rompel O., Reis A.,
RA Ekici A.B., McTeir L., Fraser A.M., Hall E.A., Mill P., Daudet N.,
RA Cross C., Wolfrum U., Jamra R.A., Davey M.G., Bolz H.J.;
RT "TALPID3 controls centrosome and cell polarity and the human ortholog
RT KIAA0586 is mutated in Joubert syndrome (JBTS23).";
RL Elife 4:0-0(2015).
CC -!- FUNCTION: Required for ciliogenesis and sonic hedgehog/SHH signaling
CC (PubMed:16702409, PubMed:19144723, PubMed:26386247). Independently,
CC involved in regulation of cell intracellular organization. Involved in
CC regulation of cell polarity (PubMed:26386247).
CC {ECO:0000269|PubMed:16702409, ECO:0000269|PubMed:19144723,
CC ECO:0000269|PubMed:26386247}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing
CC center, centrosome {ECO:0000269|PubMed:16702409,
CC ECO:0000269|PubMed:19144723}.
CC -!- TISSUE SPECIFICITY: Ubiquitously expressed.
CC {ECO:0000269|PubMed:16702409}.
CC -!- DISEASE: Note=Defects in Talpid3 are the cause of the spontaneous
CC mutant with pleiotropic phenotype including polydactylous limbs with
CC many unpatterned digits, vascular defects, hypoteleorism, abnormal
CC dorsoventral patterning of the neural tube, loss of endochondral bone
CC formation and embryonic lethality. {ECO:0000269|PubMed:16702409}.
CC -!- DISRUPTION PHENOTYPE: Failure of formation of primary and motile cilia
CC in ependymal cells of the prosencephalic choroid plexus. Centrosomes
CC are rarely found near the cell surface but are often mislocalized deep
CC within the cell and do not show coordinate orientation within group.
CC {ECO:0000269|PubMed:23613203}.
CC -!- SIMILARITY: Belongs to the TALPID3 family. {ECO:0000305}.
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DR EMBL; DQ066932; AAZ22766.1; -; mRNA.
DR EMBL; AC145958; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR RefSeq; NP_001035797.1; NM_001040707.1.
DR AlphaFoldDB; Q1G7G9; -.
DR SMR; Q1G7G9; -.
DR STRING; 9031.ENSGALP00000036550; -.
DR PaxDb; Q1G7G9; -.
DR Ensembl; ENSGALT00000037343; ENSGALP00000036550; ENSGALG00000012025.
DR GeneID; 423540; -.
DR KEGG; gga:423540; -.
DR CTD; 423540; -.
DR VEuPathDB; HostDB:geneid_423540; -.
DR eggNOG; ENOG502QUXJ; Eukaryota.
DR GeneTree; ENSGT00390000012397; -.
DR HOGENOM; CLU_004577_0_0_1; -.
DR InParanoid; Q1G7G9; -.
DR OMA; VTDVMQD; -.
DR PhylomeDB; Q1G7G9; -.
DR PRO; PR:Q1G7G9; -.
DR Proteomes; UP000000539; Chromosome 5.
DR Bgee; ENSGALG00000012025; Expressed in testis and 12 other tissues.
DR ExpressionAtlas; Q1G7G9; baseline and differential.
DR GO; GO:0005814; C:centriole; IBA:GO_Central.
DR GO; GO:0005813; C:centrosome; IDA:UniProtKB.
DR GO; GO:0036064; C:ciliary basal body; IBA:GO_Central.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0051642; P:centrosome localization; IMP:UniProtKB.
DR GO; GO:0060271; P:cilium assembly; IMP:UniProtKB.
DR GO; GO:0044458; P:motile cilium assembly; IMP:UniProtKB.
DR GO; GO:0007224; P:smoothened signaling pathway; IMP:UniProtKB.
DR InterPro; IPR029246; TALPID3.
DR PANTHER; PTHR15721; PTHR15721; 2.
DR Pfam; PF15324; TALPID3; 2.
PE 2: Evidence at transcript level;
KW Cilium biogenesis/degradation; Coiled coil; Cytoplasm; Cytoskeleton;
KW Reference proteome.
FT CHAIN 1..1523
FT /note="TALPID3 protein"
FT /id="PRO_0000420182"
FT REGION 1..20
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 57..84
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 498..585
FT /note="Required for centrosomal localization"
FT REGION 1070..1112
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1137..1262
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1294..1313
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1373..1410
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1498..1523
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 428..466
FT /evidence="ECO:0000255"
FT COILED 499..528
FT /evidence="ECO:0000255"
FT COMPBIAS 1..17
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1073..1095
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1096..1110
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1232..1254
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 83
FT /note="N -> S (in Ref. 1; AAZ22766)"
FT /evidence="ECO:0000305"
FT CONFLICT 88
FT /note="G -> E (in Ref. 1; AAZ22766)"
FT /evidence="ECO:0000305"
FT CONFLICT 100
FT /note="N -> S (in Ref. 1; AAZ22766)"
FT /evidence="ECO:0000305"
FT CONFLICT 119
FT /note="S -> F (in Ref. 1; AAZ22766)"
FT /evidence="ECO:0000305"
FT CONFLICT 186
FT /note="L -> F (in Ref. 1; AAZ22766)"
FT /evidence="ECO:0000305"
FT CONFLICT 331
FT /note="G -> S (in Ref. 1; AAZ22766)"
FT /evidence="ECO:0000305"
FT CONFLICT 926
FT /note="R -> K (in Ref. 1; AAZ22766)"
FT /evidence="ECO:0000305"
FT CONFLICT 1059
FT /note="T -> I (in Ref. 1; AAZ22766)"
FT /evidence="ECO:0000305"
FT CONFLICT 1137
FT /note="V -> M (in Ref. 1; AAZ22766)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1523 AA; 165862 MW; CE17CB0D7C37B7E5 CRC64;
MEAESGSSTS QDSLASLTAG DVLVRSTGVR GVKGAAGAGG RNSAAVSVTK LREALPSRQA
AGVALSRGET PCEPPVPSSG ASNGRVTGVT ACSAAPGVWN AKGHPEHLLL VADPVEATSV
PQMVYPKEAA VNPKEADRSL QPEYSRRPKD DVLISRYPTG QKEALRAVLK QKTRSAPVFK
EVKVQLLGNA SPERKESVGQ DPILTHREAD SATTIAAATA AAIATTAPLL KVQNDLQAKV
NCVSTLLHKL QETDKQLQRV AEQQTNTKTQ HEKPHCHERV SELEKQMNAF MLQRIHHLEK
LQEHQMNIQS HFISSAVNMG GLQQTHMPSS GLLTKQSEKA EEQLLNNGIS SSQKNFFPSS
GLPTQGDGRH LEHILNPQAA PWGQMESSEK TMLTNDKMSW HSEIERPTAL QTDSCPAYEN
SSQNCNSIEK TVKKADDLLQ VLGQLRKEMH DMLQEASSWK SDMNDLIKSK PATIASDPPE
YNHLVKPSVL QNVKAPNSIL SDAKRVLREV QSRKKVLEEN LEAVLRAKGG GAMSAFINAL
TTNRDALEKI RIRKAVDERI KAISAEIQAE MARNDMEQVK YDQKVPWIKR AQNIKAMKNS
KEIKAKTQKI QGCSTKKPLS AAKSLRNHVE DNISKEGFRT YFSSESLQRN RKGTDEPMSG
CAMVQNEEYL SQIYGKPIYQ GHRSTLKKAP YLRFNSPSPK SKLQRPRVIE YVRGTKVKSA
GTQTCSRAQK AVISSKKQHP LYALAQENQY FFSPNRDVPA DCGPLEGHLI PMAVPLGQTQ
INDISVQPAG VVMCKPHPVT VTTSIPQVPP KPPTEVKKPN VAVIEMRSEK KDPPQLSVQV
LPNVDIDSIS GGSVSVNHVL PEPKPARCPA DAVIQAPEDI QSEEEDVKFP GTNFTDVTDV
VQDQEEERDE IPEFTEPLLE INGHFRVAEP TYNGPSFPPV ASAPQQSCDV LDEWIERRET
IENRLINWVE QEIMAKIISE MYPVQRETVP SVSTSEGEDS ETVTSDIVEA AGGGGFQLFI
DAGVPVDSEM ISHLVNEVLS ETIATMLGNR QAQEAVPATN LLPSTTAVME PLVPTPLPTP
QATPPQTPPS EKEMPPVQTP ESSPSITELS GDVREQEKMK EAGSDIPAAV SRVGTPVITP
ISTPPEIITP SPPASEAAKM ENPAPLNPWD DAELPLEEEK PSPLAEETFN PKAVEMSVAN
DEEPEALILP SWQSSPKPFQ SLPCEPEAPS AAPTDSSEQS TQESSLTPTE TETADRPISE
GEVLFSCDQM LAAREGGLSF PNLTESLTST LQDANEMDYD PPSEGQVVRR SHKGYHRDPV
LALLAKLNQA PVAVQEGGYH LEDSDSSVGE LSEGQRPRLT RAAERILMGH PVDIDHATAR
ASEDRPYQGS RSPSPGQLTH PAEILGDADT SHGPMLVAEL ESQPISNPVL QAAQPSCRVA
SLPKGPSQEE SQGDARVVRP RVVHVRRKSE EMQEEGEGVV PHFHSHVSAE RMSVKLPSMN
IDDQTQSLSS IHGDSDSSGA DTF
