ID Q1RLX7_DANRE Unreviewed; 507 AA.
AC Q1RLX7;
DT 16-MAY-2006, integrated into UniProtKB/TrEMBL.
DT 16-MAY-2006, sequence version 1.
DT 27-MAR-2024, entry version 125.
DE SubName: Full=Tetratricopeptide repeat protein 8 {ECO:0000313|RefSeq:NP_001035399.1};
DE SubName: Full=Zgc:136718 {ECO:0000313|EMBL:AAI15239.1, ECO:0000313|EMBL:AAI31864.1};
GN Name=ttc8 {ECO:0000313|RefSeq:NP_001035399.1,
GN ECO:0000313|ZFIN:ZDB-GENE-030131-8846};
GN Synonyms=bbs8 {ECO:0000313|RefSeq:NP_001035399.1}, wu:fk26c02
GN {ECO:0000313|RefSeq:NP_001035399.1}, zgc:136718
GN {ECO:0000313|EMBL:AAI15239.1, ECO:0000313|RefSeq:NP_001035399.1};
OS Danio rerio (Zebrafish) (Brachydanio rerio).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC Danionidae; Danioninae; Danio.
OX NCBI_TaxID=7955 {ECO:0000313|EMBL:AAI15239.1};
RN [1] {ECO:0000313|RefSeq:NP_001035399.1}
RP NUCLEOTIDE SEQUENCE.
RX PubMed=16909204;
RA Blacque O.E., Leroux M.R.;
RT "Bardet-Biedl syndrome: an emerging pathomechanism of intracellular
RT transport.";
RL Cell. Mol. Life Sci. 63:2145-2161(2006).
RN [2] {ECO:0000313|RefSeq:NP_001035399.1}
RP NUCLEOTIDE SEQUENCE.
RX PubMed=16399798;
RA Yen H.J., Tayeh M.K., Mullins R.F., Stone E.M., Sheffield V.C.,
RA Slusarski D.C.;
RT "Bardet-Biedl syndrome genes are important in retrograde intracellular
RT trafficking and Kupffer's vesicle cilia function.";
RL Hum. Mol. Genet. 15:667-677(2006).
RN [3] {ECO:0000313|EMBL:AAI15239.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Embryo {ECO:0000313|EMBL:AAI31864.1}, and Whole
RC {ECO:0000313|EMBL:AAI15239.1};
RG NIH - Zebrafish Gene Collection (ZGC) project;
RL Submitted (APR-2006) to the EMBL/GenBank/DDBJ databases.
RN [4] {ECO:0000313|RefSeq:NP_001035399.1}
RP NUCLEOTIDE SEQUENCE.
RX PubMed=18381349;
RA Tayeh M.K., Yen H.J., Beck J.S., Searby C.C., Westfall T.A., Griesbach H.,
RA Sheffield V.C., Slusarski D.C.;
RT "Genetic interaction between Bardet-Biedl syndrome genes and implications
RT for limb patterning.";
RL Hum. Mol. Genet. 17:1956-1967(2008).
RN [5] {ECO:0000313|RefSeq:NP_001035399.1}
RP NUCLEOTIDE SEQUENCE.
RX PubMed=18443298;
RA Tobin J.L., Di Franco M., Eichers E., May-Simera H., Garcia M., Yan J.,
RA Quinlan R., Justice M.J., Hennekam R.C., Briscoe J., Tada M., Mayor R.,
RA Burns A.J., Lupski J.R., Hammond P., Beales P.L.;
RT "Inhibition of neural crest migration underlies craniofacial dysmorphology
RT and Hirschsprung's disease in Bardet-Biedl syndrome.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:6714-6719(2008).
RN [6] {ECO:0000313|RefSeq:NP_001035399.1}
RP NUCLEOTIDE SEQUENCE.
RX PubMed=20643117;
RA May-Simera H.L., Kai M., Hernandez V., Osborn D.P., Tada M., Beales P.L.;
RT "Bbs8, together with the planar cell polarity protein Vangl2, is required
RT to establish left-right asymmetry in zebrafish.";
RL Dev. Biol. 345:215-225(2010).
RN [7] {ECO:0000313|RefSeq:NP_001035399.1}
RP NUCLEOTIDE SEQUENCE.
RX PubMed=20207966;
RA Hudak L.M., Lunt S., Chang C.H., Winkler E., Flammer H., Lindsey M.,
RA Perkins B.D.;
RT "The intraflagellar transport protein ift80 is essential for photoreceptor
RT survival in a zebrafish model of jeune asphyxiating thoracic dystrophy.";
RL Invest. Ophthalmol. Vis. Sci. 51:3792-3799(2010).
RN [8] {ECO:0000313|RefSeq:NP_001035399.1}
RP NUCLEOTIDE SEQUENCE.
RX PubMed=20498079;
RA Zaghloul N.A., Liu Y., Gerdes J.M., Gascue C., Oh E.C., Leitch C.C.,
RA Bromberg Y., Binkley J., Leibel R.L., Sidow A., Badano J.L., Katsanis N.;
RT "Functional analyses of variants reveal a significant role for dominant
RT negative and common alleles in oligogenic Bardet-Biedl syndrome.";
RL Proc. Natl. Acad. Sci. U.S.A. 107:10602-10607(2010).
RN [9] {ECO:0000313|Proteomes:UP000000437}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=23594743; DOI=10.1038/nature12111;
RG Genome Reference Consortium Zebrafish;
RA Howe K., Clark M.D., Torroja C.F., Torrance J., Berthelot C., Muffato M.,
RA Collins J.E., Humphray S., McLaren K., Matthews L., McLaren S., Sealy I.,
RA Caccamo M., Churcher C., Scott C., Barrett J.C., Koch R., Rauch G.J.,
RA White S., Chow W., Kilian B., Quintais L.T., Guerra-Assuncao J.A., Zhou Y.,
RA Gu Y., Yen J., Vogel J.H., Eyre T., Redmond S., Banerjee R., Chi J., Fu B.,
RA Langley E., Maguire S.F., Laird G.K., Lloyd D., Kenyon E., Donaldson S.,
RA Sehra H., Almeida-King J., Loveland J., Trevanion S., Jones M., Quail M.,
RA Willey D., Hunt A., Burton J., Sims S., McLay K., Plumb B., Davis J.,
RA Clee C., Oliver K., Clark R., Riddle C., Elliot D., Eliott D.,
RA Threadgold G., Harden G., Ware D., Begum S., Mortimore B., Mortimer B.,
RA Kerry G., Heath P., Phillimore B., Tracey A., Corby N., Dunn M.,
RA Johnson C., Wood J., Clark S., Pelan S., Griffiths G., Smith M.,
RA Glithero R., Howden P., Barker N., Lloyd C., Stevens C., Harley J.,
RA Holt K., Panagiotidis G., Lovell J., Beasley H., Henderson C., Gordon D.,
RA Auger K., Wright D., Collins J., Raisen C., Dyer L., Leung K.,
RA Robertson L., Ambridge K., Leongamornlert D., McGuire S., Gilderthorp R.,
RA Griffiths C., Manthravadi D., Nichol S., Barker G., Whitehead S., Kay M.,
RA Brown J., Murnane C., Gray E., Humphries M., Sycamore N., Barker D.,
RA Saunders D., Wallis J., Babbage A., Hammond S., Mashreghi-Mohammadi M.,
RA Barr L., Martin S., Wray P., Ellington A., Matthews N., Ellwood M.,
RA Woodmansey R., Clark G., Cooper J., Cooper J., Tromans A., Grafham D.,
RA Skuce C., Pandian R., Andrews R., Harrison E., Kimberley A., Garnett J.,
RA Fosker N., Hall R., Garner P., Kelly D., Bird C., Palmer S., Gehring I.,
RA Berger A., Dooley C.M., Ersan-Urun Z., Eser C., Geiger H., Geisler M.,
RA Karotki L., Kirn A., Konantz J., Konantz M., Oberlander M.,
RA Rudolph-Geiger S., Teucke M., Lanz C., Raddatz G., Osoegawa K., Zhu B.,
RA Rapp A., Widaa S., Langford C., Yang F., Schuster S.C., Carter N.P.,
RA Harrow J., Ning Z., Herrero J., Searle S.M., Enright A., Geisler R.,
RA Plasterk R.H., Lee C., Westerfield M., de Jong P.J., Zon L.I.,
RA Postlethwait J.H., Nusslein-Volhard C., Hubbard T.J., Roest Crollius H.,
RA Rogers J., Stemple D.L.;
RT "The zebrafish reference genome sequence and its relationship to the human
RT genome.";
RL Nature 496:498-503(2013).
RN [10] {ECO:0000313|RefSeq:NP_001035399.1}
RP NUCLEOTIDE SEQUENCE.
RX PubMed=27189481;
RA Pasquier J., Cabau C., Nguyen T., Jouanno E., Severac D., Braasch I.,
RA Journot L., Pontarotti P., Klopp C., Postlethwait J.H., Guiguen Y.,
RA Bobe J.;
RT "Gene evolution and gene expression after whole genome duplication in fish:
RT the PhyloFish database.";
RL BMC Genomics 17:368-368(2016).
RN [11] {ECO:0000313|RefSeq:NP_001035399.1}
RP NUCLEOTIDE SEQUENCE.
RX PubMed=27899647;
RA Lei L., Yan S.Y., Yang R., Chen J.Y., Li Y., Bu Y., Chang N., Zhou Q.,
RA Zhu X., Li C.Y., Xiong J.W.;
RT "Spliceosomal protein eftud2 mutation leads to p53-dependent apoptosis in
RT zebrafish neural progenitors.";
RL Nucleic Acids Res. 45:3422-3436(2017).
RN [12] {ECO:0000313|RefSeq:NP_001035399.1}
RP IDENTIFICATION.
RG RefSeq;
RL Submitted (NOV-2023) to UniProtKB.
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DR EMBL; BC115238; AAI15239.1; -; mRNA.
DR EMBL; BC131863; AAI31864.1; -; mRNA.
DR RefSeq; NP_001035399.1; NM_001040309.1.
DR GeneID; 678551; -.
DR KEGG; dre:678551; -.
DR AGR; ZFIN:ZDB-GENE-030131-8846; -.
DR CTD; 123016; -.
DR ZFIN; ZDB-GENE-030131-8846; ttc8.
DR OrthoDB; 1328318at2759; -.
DR Proteomes; UP000000437; Unplaced.
DR GO; GO:0034464; C:BBSome; IEA:InterPro.
DR GO; GO:0007015; P:actin filament organization; IGI:ZFIN.
DR GO; GO:0060271; P:cilium assembly; IMP:ZFIN.
DR GO; GO:0060026; P:convergent extension; IMP:ZFIN.
DR GO; GO:0007369; P:gastrulation; IMP:ZFIN.
DR GO; GO:0001947; P:heart looping; IMP:ZFIN.
DR GO; GO:0046907; P:intracellular transport; IMP:ZFIN.
DR GO; GO:0070121; P:Kupffer's vesicle development; IMP:ZFIN.
DR GO; GO:0060972; P:left/right pattern formation; IMP:ZFIN.
DR GO; GO:0032402; P:melanosome transport; IMP:ZFIN.
DR GO; GO:0001755; P:neural crest cell migration; IMP:ZFIN.
DR GO; GO:1905515; P:non-motile cilium assembly; IEA:InterPro.
DR GO; GO:0048840; P:otolith development; IMP:ZFIN.
DR GO; GO:0051877; P:pigment granule aggregation in cell center; IMP:ZFIN.
DR CDD; cd21341; TTC8_N; 1.
DR Gene3D; 1.25.40.10; Tetratricopeptide repeat domain; 1.
DR InterPro; IPR028796; BBS8.
DR InterPro; IPR011990; TPR-like_helical_dom_sf.
DR InterPro; IPR019734; TPR_repeat.
DR PANTHER; PTHR44177; TETRATRICOPEPTIDE REPEAT PROTEIN 8; 1.
DR PANTHER; PTHR44177:SF1; TETRATRICOPEPTIDE REPEAT PROTEIN 8; 1.
DR Pfam; PF13424; TPR_12; 1.
DR Pfam; PF13181; TPR_8; 2.
DR SMART; SM00028; TPR; 7.
DR SUPFAM; SSF48452; TPR-like; 1.
DR PROSITE; PS50005; TPR; 2.
PE 2: Evidence at transcript level;
KW Reference proteome {ECO:0000313|Proteomes:UP000000437};
KW TPR repeat {ECO:0000256|PROSITE-ProRule:PRU00339}.
FT REPEAT 389..422
FT /note="TPR"
FT /evidence="ECO:0000256|PROSITE-ProRule:PRU00339"
FT REPEAT 423..456
FT /note="TPR"
FT /evidence="ECO:0000256|PROSITE-ProRule:PRU00339"
FT REGION 82..139
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 122..139
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 507 AA; 57299 MW; 96B1A07B76E33DFB CRC64;
MEVTVSMDPL FLAWSSCRRR RFQRCADICS TLLAESPYDQ AVWSLKTRAL TEMVYIDEVE
VEQEGIADMM LDESSIAQVA RPGTSLRRPA TSQAGAPTPA VRPMTQSGRP ITGFVRPSTL
SGRPETMEQA IRTPRTASTA RPVSSASGRF VRLGTASMLT HPDGPFINLS RLNLAKYAKR
PNLCKTLFEY IFHHENDVKT ALDLAALATE HAQFKDWWWK VQLGKCYYRL GLLREAEKQF
RSALAQQEFV DTHLYLAKVY QRLDQPITAL TVFKQGLDHF PAEVTLLTGI ARIHEEMNNM
SSATEYYREV LKQDNTHVEA IACIGSTHFY TDQPEIALRF YRRLLQMGVF NCQLYNNLGL
CCFYAQQYDM SLSCLERALA LVSGDEEQAD VWYNLGHVAV GIGDLTLAYQ CFKLSLAFNN
NHGEAYNNLA VLELRKGHIE QAKAFLQTAA SLSPHMYEPH YNYATLSDKV GDLQSSFTAA
QKSEDAFPEH VDTQQILRSL RQHFSSL
//
