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