DAAF3_DANRE
ID DAAF3_DANRE Reviewed; 469 AA.
AC F1Q7Z7; E9QIE9; F1QTP0;
DT 18-APR-2012, integrated into UniProtKB/Swiss-Prot.
DT 18-APR-2012, sequence version 2.
DT 03-AUG-2022, entry version 60.
DE RecName: Full=Dynein axonemal assembly factor 3;
GN Name=dnaaf3; ORFNames=si:dkey-224b4.3;
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, DISRUPTION PHENOTYPE, AND TISSUE SPECIFICITY.
RX PubMed=22387996; DOI=10.1038/ng.1106;
RA Mitchison H.M., Schmidts M., Loges N.T., Freshour J., Dritsoula A.,
RA Hirst R.A., O'Callaghan C., Blau H., Al Dabbagh M., Olbrich H.,
RA Beales P.L., Yagi T., Mussaffi H., Chung E.M., Omran H., Mitchell D.R.;
RT "Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary
RT dyskinesia.";
RL Nat. Genet. 44:381-389(2012).
CC -!- FUNCTION: Required for the assembly of axonemal inner and outer dynein
CC arms. Involved in preassembly of dyneins into complexes before their
CC transport into cilia. {ECO:0000269|PubMed:22387996}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Dynein axonemal particle
CC {ECO:0000250|UniProtKB:Q32NQ7}.
CC -!- TISSUE SPECIFICITY: Mainly expressed in cell types that express
CC axonemal dyneins. {ECO:0000269|PubMed:22387996}.
CC -!- DISRUPTION PHENOTYPE: Static olfactory placode cilia; reduced movement
CC of debris in the olfactory placode. The morphology and number of cilia
CC in the olfactory placode is unaffected, but an abnormal ultrastructure
CC in these cilia is observed, including reduced or missing outer and
CC inner dynein arms. {ECO:0000269|PubMed:22387996}.
CC -!- SIMILARITY: Belongs to the DNAAF3 family. {ECO:0000305}.
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DR EMBL; CR954298; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR AlphaFoldDB; F1Q7Z7; -.
DR STRING; 7955.ENSDARP00000118558; -.
DR PaxDb; F1Q7Z7; -.
DR PRIDE; F1Q7Z7; -.
DR Ensembl; ENSDART00000137777; ENSDARP00000118558; ENSDARG00000092662.
DR ZFIN; ZDB-GENE-091204-296; dnaaf3.
DR eggNOG; ENOG502QT97; Eukaryota.
DR GeneTree; ENSGT00390000002069; -.
DR HOGENOM; CLU_024420_2_1_1; -.
DR InParanoid; F1Q7Z7; -.
DR OMA; PEYEQCK; -.
DR OrthoDB; 681465at2759; -.
DR PhylomeDB; F1Q7Z7; -.
DR TreeFam; TF323981; -.
DR PRO; PR:F1Q7Z7; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 24.
DR Bgee; ENSDARG00000092662; Expressed in testis and 6 other tissues.
DR GO; GO:0120293; C:dynein axonemal particle; ISS:UniProtKB.
DR GO; GO:0070286; P:axonemal dynein complex assembly; IMP:ZFIN.
DR GO; GO:0003341; P:cilium movement; IMP:ZFIN.
DR GO; GO:0044458; P:motile cilium assembly; IMP:UniProtKB.
DR InterPro; IPR039304; DNAAF3.
DR InterPro; IPR028235; DNAAF3_C.
DR InterPro; IPR027974; DUF4470.
DR PANTHER; PTHR22118; PTHR22118; 1.
DR Pfam; PF14737; DUF4470; 1.
DR Pfam; PF14740; DUF4471; 1.
PE 2: Evidence at transcript level;
KW Cilium biogenesis/degradation; Cytoplasm; Reference proteome.
FT CHAIN 1..469
FT /note="Dynein axonemal assembly factor 3"
FT /id="PRO_0000416895"
FT REGION 313..356
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 317..356
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 469 AA; 52577 MW; 57FC852FA01E408C CRC64;
MSAGRTFEGA GCVTWWGFGP ARDLLNSDTH KVRLQEELNV LLVGSGDPRH ILKTITGLTH
SDTLHVWVIE NSMEVIARQL LLLYISLLPP DKMSVHKKTE VFLEVFGNLE IRKETEESVK
KAAAQLSISI TYSLSSDSLS HSCLDTSLLK FKERDELVRI FKLWERPPSA PASVSKVWDA
RVRQHLGSRY DSRQGAFDWD LNMKLHQRGC GVINKHQYAK WRETGVTFEM REGLYQTANQ
SLLSTRVFNH RGNGVALRGY WGDIVSSPYL SFGIETENKE LLKTQNNHYV KTAQDISEVN
LLELFECLAA RGRSPLNEDP PNTSSSCCQS TESRKTEENS QSDPSASQTQ PVEHSPTQEL
DLLNVNGVKV SFLSPDSLSK LPLKSKYRNL FNTIFCSASM VHQLDSALRE IAAPDAALVI
ELATFLLDLS KEQVSGFAVK VKEIAEESGF TPAHDQNSDK YAVFTQKNN