DAA11_DANRE
ID DAA11_DANRE Reviewed; 440 AA.
AC B3DH20; Q6IVV9;
DT 25-JAN-2012, integrated into UniProtKB/Swiss-Prot.
DT 22-JUL-2008, sequence version 1.
DT 03-AUG-2022, entry version 71.
DE RecName: Full=Dynein axonemal assembly factor 11 {ECO:0000305};
DE Short=DNAAF11 {ECO:0000305};
DE AltName: Full=Leucine-rich repeat-containing 6-like protein;
DE AltName: Full=Leucine-rich repeat-containing protein 6;
DE AltName: Full=Protein tilB homolog;
DE AltName: Full=Seahorse {ECO:0000303|PubMed:18539122};
GN Name=dnaaf11; Synonyms=lrrc6, lrrc6l;
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 [MRNA], AND DEVELOPMENTAL STAGE.
RX PubMed=15269167; DOI=10.1242/dev.01240;
RA Sun Z., Amsterdam A., Pazour G.J., Cole D.G., Miller M.S., Hopkins N.;
RT "A genetic screen in zebrafish identifies cilia genes as a principal cause
RT of cystic kidney.";
RL Development 131:4085-4093(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RG NIH - Zebrafish Gene Collection (ZGC) project;
RL Submitted (APR-2008) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=17606911; DOI=10.1073/pnas.0704476104;
RA McDermott B.M. Jr., Baucom J.M., Hudspeth A.J.;
RT "Analysis and functional evaluation of the hair-cell transcriptome.";
RL Proc. Natl. Acad. Sci. U.S.A. 104:11820-11825(2007).
RN [4]
RP FUNCTION, INTERACTION WITH DVL2, SUBCELLULAR LOCATION, AND DEVELOPMENTAL
RP STAGE.
RX PubMed=18539122; DOI=10.1016/j.devcel.2008.03.010;
RA Kishimoto N., Cao Y., Park A., Sun Z.;
RT "Cystic kidney gene seahorse regulates cilia-mediated processes and Wnt
RT pathways.";
RL Dev. Cell 14:954-961(2008).
RN [5]
RP FUNCTION, INTERACTION WITH DVL2, AND DEVELOPMENTAL STAGE.
RX PubMed=19395640; DOI=10.1242/dev.020735;
RA Serluca F.C., Xu B., Okabe N., Baker K., Lin S.Y., Sullivan-Brown J.,
RA Konieczkowski D.J., Jaffe K.M., Bradner J.M., Fishman M.C., Burdine R.D.;
RT "Mutations in zebrafish leucine-rich repeat-containing six-like affect
RT cilia motility and result in pronephric cysts, but have variable effects on
RT left-right patterning.";
RL Development 136:1621-1631(2009).
RN [6]
RP INTERACTION WITH KUR.
RX PubMed=26904945; DOI=10.1016/j.celrep.2016.01.069;
RA Jaffe K.M., Grimes D.T., Schottenfeld-Roames J., Werner M.E., Ku T.S.,
RA Kim S.K., Pelliccia J.L., Morante N.F., Mitchell B.J., Burdine R.D.;
RT "c21orf59/kurly controls both cilia motility and polarization.";
RL Cell Rep. 14:1841-1849(2016).
CC -!- FUNCTION: Plays a crucial role in regulating cilia motility in
CC pronephric tubules, cloaca and neural tube. Required for establishing
CC left-right asymmetry of the body plan; controls cell fate and
CC convergent extension (CE) movements during gastrulation, respectively,
CC via the Wnt and the planar cell polarity (PCP) signaling pathways.
CC Required for the proper development of renal glomeruli and tubules.
CC {ECO:0000269|PubMed:18539122, ECO:0000269|PubMed:19395640}.
CC -!- SUBUNIT: Interacts with dvl2 (PubMed:18539122, PubMed:19395640).
CC Interacts with kur (PubMed:26904945). {ECO:0000269|PubMed:18539122,
CC ECO:0000269|PubMed:19395640, ECO:0000269|PubMed:26904945}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18539122}. Dynein
CC axonemal particle {ECO:0000305|PubMed:18539122}. Cell projection,
CC cilium {ECO:0000269|PubMed:18539122}. Note=Localized to cytoplasmic
CC puncta in ciliated cells. In the semicircular canal, localized to
CC kinocilia.
CC -!- TISSUE SPECIFICITY: Expressed in kinocilia of hair cells.
CC {ECO:0000269|PubMed:17606911}.
CC -!- DEVELOPMENTAL STAGE: Maternally and zygotically expressed. Expressed in
CC the embryo at the 256- and 512-cell, sphere and epiboly stages.
CC Expressed in ciliated tissues, including Kupffer's vesicle, otic
CC vesicle, pronephric duct and floor plate of the neural tube. Expressed
CC in the floor plate and chordoneural hinge at 24 hpf. Expressed in the
CC anteriormost tubules adjacent to the glomerular region at 36 hpf.
CC Expressed in the pronephric tubules from mid-somitogenesis through 48
CC hpf. {ECO:0000269|PubMed:15269167, ECO:0000269|PubMed:18539122,
CC ECO:0000269|PubMed:19395640}.
CC -!- MISCELLANEOUS: Mutants show development of polycystic kidney disease
CC and left-right (LR) asymmetry defects.
CC -!- SIMILARITY: Belongs to the tilB family. {ECO:0000305}.
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DR EMBL; AY618925; AAT39121.1; -; mRNA.
DR EMBL; BC162607; AAI62607.1; -; mRNA.
DR RefSeq; NP_001002311.1; NM_001002311.1.
DR AlphaFoldDB; B3DH20; -.
DR SMR; B3DH20; -.
DR STRING; 7955.ENSDARP00000113887; -.
DR PaxDb; B3DH20; -.
DR PeptideAtlas; B3DH20; -.
DR GeneID; 432388; -.
DR KEGG; dre:432388; -.
DR CTD; 23639; -.
DR ZFIN; ZDB-GENE-040827-2; dnaaf11.
DR eggNOG; KOG0531; Eukaryota.
DR InParanoid; B3DH20; -.
DR OrthoDB; 800324at2759; -.
DR PRO; PR:B3DH20; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Unplaced.
DR GO; GO:0005929; C:cilium; IEA:UniProtKB-SubCell.
DR GO; GO:0005737; C:cytoplasm; IDA:ZFIN.
DR GO; GO:0005829; C:cytosol; ISS:UniProtKB.
DR GO; GO:0120293; C:dynein axonemal particle; ISS:UniProtKB.
DR GO; GO:0005576; C:extracellular region; IEA:GOC.
DR GO; GO:0070286; P:axonemal dynein complex assembly; ISS:UniProtKB.
DR GO; GO:0090660; P:cerebrospinal fluid circulation; ISS:UniProtKB.
DR GO; GO:0060271; P:cilium assembly; IMP:ZFIN.
DR GO; GO:0060294; P:cilium movement involved in cell motility; IMP:ZFIN.
DR GO; GO:0060027; P:convergent extension involved in gastrulation; IGI:ZFIN.
DR GO; GO:0007368; P:determination of left/right symmetry; IMP:ZFIN.
DR GO; GO:0009953; P:dorsal/ventral pattern formation; IMP:ZFIN.
DR GO; GO:0003143; P:embryonic heart tube morphogenesis; IMP:ZFIN.
DR GO; GO:0060287; P:epithelial cilium movement involved in determination of left/right asymmetry; ISS:UniProtKB.
DR GO; GO:0003351; P:epithelial cilium movement involved in extracellular fluid movement; IMP:ZFIN.
DR GO; GO:0051649; P:establishment of localization in cell; ISS:UniProtKB.
DR GO; GO:0030317; P:flagellated sperm motility; ISS:UniProtKB.
DR GO; GO:0003146; P:heart jogging; IMP:ZFIN.
DR GO; GO:0001947; P:heart looping; IMP:ZFIN.
DR GO; GO:0044458; P:motile cilium assembly; IGI:ZFIN.
DR GO; GO:0036158; P:outer dynein arm assembly; ISS:UniProtKB.
DR GO; GO:0048793; P:pronephros development; IMP:ZFIN.
DR GO; GO:0061512; P:protein localization to cilium; ISS:UniProtKB.
DR GO; GO:0120229; P:protein localization to motile cilium; ISS:UniProtKB.
DR Gene3D; 3.80.10.10; -; 1.
DR InterPro; IPR001611; Leu-rich_rpt.
DR InterPro; IPR032675; LRR_dom_sf.
DR PROSITE; PS51450; LRR; 4.
PE 1: Evidence at protein level;
KW Cell projection; Cilium; Cytoplasm; Leucine-rich repeat;
KW Reference proteome; Repeat.
FT CHAIN 1..440
FT /note="Dynein axonemal assembly factor 11"
FT /id="PRO_0000414859"
FT REPEAT 20..43
FT /note="LRR 1"
FT REPEAT 44..65
FT /note="LRR 2"
FT REPEAT 66..89
FT /note="LRR 3"
FT REPEAT 90..110
FT /note="LRR 4"
FT DOMAIN 128..146
FT /note="LRRCT"
FT DOMAIN 276..374
FT /note="CS"
FT REGION 178..267
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 363..440
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 189..212
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 213..263
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 417..431
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 99
FT /note="F -> S (in Ref. 1; AAT39121)"
FT /evidence="ECO:0000305"
FT CONFLICT 279
FT /note="P -> R (in Ref. 1; AAT39121)"
FT /evidence="ECO:0000305"
FT CONFLICT 286
FT /note="F -> S (in Ref. 1; AAT39121)"
FT /evidence="ECO:0000305"
FT CONFLICT 298
FT /note="H -> N (in Ref. 1; AAT39121)"
FT /evidence="ECO:0000305"
FT CONFLICT 367
FT /note="T -> S (in Ref. 1; AAT39121)"
FT /evidence="ECO:0000305"
FT CONFLICT 440
FT /note="M -> V (in Ref. 1; AAT39121)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 440 AA; 50677 MW; B6F42596AED6AAFE CRC64;
MVRISEDLIR RRAEHNNGEI FSLEELSLHQ QDIQRIEHIH KWCRDLKILY LQNNLIPKIE
NVGRLKKLEY LNLALNNIEV IENLEGCESL QKLDLTVNFV GRLSSVETLK HNLHLKELYL
VGNPCAEYQG YRQYVVATVP QLQSLDGKEI SRAERIQALQ ELDAVRTRVL QQETKYLEER
EKQKSNANEH PEINQSLSES QNGTQQYPES SSKTHTEAED EEREFWEKPC PFTPESRLEA
HRHLEEKRRA NEKEKEKPKT KTPRTLITPD GRVLNVNEPK LDFSLFEDEN NCLLLDLHVY
RHMDSSLLDV DVQPMYVRVT VKGKVFQLVL PAEVKPDSSS AQRSQTTGHL LLILPLANED
VKPKKRTIRP TSVTSNQNNK KDTRAAPRRE LLEVDPGLAG SLANIVPKGQ ESSHNPQRCG
LEERPVSKDF VDDPEVPPLM
