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DYT2B_DANRE
ID   DYT2B_DANRE             Reviewed;         150 AA.
AC   F1QMY1;
DT   07-OCT-2020, integrated into UniProtKB/Swiss-Prot.
DT   03-MAY-2011, sequence version 1.
DT   03-AUG-2022, entry version 61.
DE   RecName: Full=Dynein light chain Tctex-type protein 2B {ECO:0000305};
DE   AltName: Full=Tctex1 domain-containing protein 2;
GN   Name=dynlt2b; Synonyms=tctex1d2;
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;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC   STRAIN=Tuebingen;
RX   PubMed=23594743; DOI=10.1038/nature12111;
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., Threadgold G.,
RA   Harden G., Ware D., Begum S., Mortimore B., Kerry G., Heath P.,
RA   Phillimore B., Tracey A., Corby N., Dunn M., Johnson C., Wood J., Clark S.,
RA   Pelan S., Griffiths G., Smith M., Glithero R., Howden P., Barker N.,
RA   Lloyd C., Stevens C., Harley J., Holt K., Panagiotidis G., Lovell J.,
RA   Beasley H., Henderson C., Gordon D., Auger K., Wright D., Collins J.,
RA   Raisen C., Dyer L., Leung K., Robertson L., Ambridge K., Leongamornlert D.,
RA   McGuire S., Gilderthorp R., Griffiths C., Manthravadi D., Nichol S.,
RA   Barker G., Whitehead S., Kay M., Brown J., Murnane C., Gray E.,
RA   Humphries M., Sycamore N., Barker D., Saunders D., Wallis J., Babbage A.,
RA   Hammond S., Mashreghi-Mohammadi M., Barr L., Martin S., Wray P.,
RA   Ellington A., Matthews N., Ellwood M., Woodmansey R., Clark G., Cooper J.,
RA   Tromans A., Grafham D., Skuce C., Pandian R., Andrews R., Harrison E.,
RA   Kimberley A., Garnett J., Fosker N., Hall R., Garner P., Kelly D., Bird C.,
RA   Palmer S., Gehring I., Berger A., Dooley C.M., Ersan-Urun Z., Eser C.,
RA   Geiger H., Geisler M., Karotki L., Kirn A., Konantz J., Konantz M.,
RA   Oberlander M., Rudolph-Geiger S., Teucke M., Lanz C., Raddatz G.,
RA   Osoegawa K., Zhu B., Rapp A., Widaa S., Langford C., Yang F.,
RA   Schuster S.C., Carter N.P., Harrow J., Ning Z., Herrero J., Searle S.M.,
RA   Enright A., Geisler R., Plasterk R.H., Lee C., Westerfield M.,
RA   de Jong P.J., Zon L.I., Postlethwait J.H., Nusslein-Volhard C.,
RA   Hubbard T.J., Roest Crollius H., 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   [2]
RP   FUNCTION, AND DISRUPTION PHENOTYPE.
RX   PubMed=26044572; DOI=10.1038/ncomms8074;
RG   UK10K;
RA   Schmidts M., Hou Y., Cortes C.R., Mans D.A., Huber C., Boldt K., Patel M.,
RA   van Reeuwijk J., Plaza J.M., van Beersum S.E., Yap Z.M., Letteboer S.J.,
RA   Taylor S.P., Herridge W., Johnson C.A., Scambler P.J., Ueffing M.,
RA   Kayserili H., Krakow D., King S.M., Beales P.L., Al-Gazali L., Wicking C.,
RA   Cormier-Daire V., Roepman R., Mitchison H.M., Witman G.B.;
RT   "TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with
RT   impaired retrograde intraflagellar transport.";
RL   Nat. Commun. 6:7074-7074(2015).
RN   [3]
RP   ERRATUM OF PUBMED:26044572.
RX   PubMed=27021811; DOI=10.1038/ncomms11270;
RG   UK10K;
RA   Schmidts M., Hou Y., Cortes C.R., Mans D.A., Huber C., Boldt K., Patel M.,
RA   van Reeuwijk J., Plaza J.M., van Beersum S.E., Yap Z.M., Letteboer S.J.,
RA   Taylor S.P., Herridge W., Johnson C.A., Scambler P.J., Ueffing M.,
RA   Kayserili H., Krakow D., King S.M., Beales P.L., Al-Gazali L., Wicking C.,
RA   Cormier-Daire V., Roepman R., Mitchison H.M., Witman G.B.;
RL   Nat. Commun. 7:11270-11270(2016).
CC   -!- FUNCTION: Acts as one of several non-catalytic accessory components of
CC       the cytoplasmic dynein 2 complex (dynein-2 complex), a motor protein
CC       complex that drives the movement of cargos along microtubules within
CC       cilia and flagella in concert with the intraflagellar transport (IFT)
CC       system (By similarity). Required for proper retrograde ciliary
CC       transport (PubMed:26044572). {ECO:0000250|UniProtKB:Q8WW35,
CC       ECO:0000269|PubMed:26044572}.
CC   -!- SUBCELLULAR LOCATION: Dynein axonemal particle
CC       {ECO:0000250|UniProtKB:Q8WW35}.
CC   -!- DISRUPTION PHENOTYPE: Morpholino knockdown of the protein produces a
CC       dose dependent typical ciliopathy phenotype, with ventrally curved body
CC       axis, hydrocephalus, abnormal otoliths and small eyes. The few embryos
CC       surviving to 4 days post fertilization display severe generalized
CC       edema, pronephric cysts, and defects of the craniofacial cartilage.
CC       {ECO:0000269|PubMed:26044572}.
CC   -!- SIMILARITY: Belongs to the dynein light chain Tctex-type family.
CC       {ECO:0000305}.
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DR   EMBL; CU207281; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   RefSeq; XP_685487.3; XM_680395.7.
DR   AlphaFoldDB; F1QMY1; -.
DR   SMR; F1QMY1; -.
DR   STRING; 7955.ENSDARP00000070898; -.
DR   PaxDb; F1QMY1; -.
DR   Ensembl; ENSDART00000076424; ENSDARP00000070898; ENSDARG00000054255.
DR   GeneID; 553323; -.
DR   KEGG; dre:553323; -.
DR   CTD; 255758; -.
DR   ZFIN; ZDB-GENE-081104-219; dynlt2b.
DR   eggNOG; KOG4108; Eukaryota.
DR   GeneTree; ENSGT00940000160019; -.
DR   HOGENOM; CLU_097204_4_1_1; -.
DR   InParanoid; F1QMY1; -.
DR   OMA; YSMRPAF; -.
DR   OrthoDB; 1434909at2759; -.
DR   PhylomeDB; F1QMY1; -.
DR   TreeFam; TF313904; -.
DR   Proteomes; UP000000437; Genome assembly.
DR   Proteomes; UP000814640; Chromosome 22.
DR   Bgee; ENSDARG00000054255; Expressed in testis and 24 other tissues.
DR   ExpressionAtlas; F1QMY1; baseline and differential.
DR   GO; GO:0005929; C:cilium; IEA:GOC.
DR   GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR   GO; GO:0005868; C:cytoplasmic dynein complex; ISS:UniProtKB.
DR   GO; GO:0120293; C:dynein axonemal particle; IEA:UniProtKB-SubCell.
DR   GO; GO:0045505; F:dynein intermediate chain binding; IBA:GO_Central.
DR   GO; GO:0035721; P:intraciliary retrograde transport; ISS:UniProtKB.
DR   GO; GO:0007018; P:microtubule-based movement; IBA:GO_Central.
DR   Gene3D; 3.30.1140.40; -; 1.
DR   InterPro; IPR005334; Tctex-1-like.
DR   InterPro; IPR038586; Tctex-1-like_sf.
DR   PANTHER; PTHR21255; PTHR21255; 1.
DR   Pfam; PF03645; Tctex-1; 1.
PE   3: Inferred from homology;
KW   Cytoplasm; Reference proteome.
FT   CHAIN           1..150
FT                   /note="Dynein light chain Tctex-type protein 2B"
FT                   /id="PRO_0000451272"
SQ   SEQUENCE   150 AA;  17172 MW;  29CCD21A65518346 CRC64;
     MKPSCYDNVG KAVKRKCETT IAQKRDISLM DTGANTYLIR PNYKDKFKAG VAKECIGEIL
     REQLYGVQYD PEEVPTLSRS LADSIKHKLK DMAFDRYKFI VQVVIGEQRG EGVKMAARCF
     WDADTDNYAQ EIYMNDSLFC VAAAFAVYYY
 
 
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