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DAAF1_DANRE
ID   DAAF1_DANRE             Reviewed;         555 AA.
AC   Q7ZV84;
DT   10-FEB-2009, integrated into UniProtKB/Swiss-Prot.
DT   10-FEB-2009, sequence version 2.
DT   03-AUG-2022, entry version 111.
DE   RecName: Full=Dynein axonemal assembly factor 1;
DE   AltName: Full=Leucine-rich repeat-containing protein 50;
GN   Name=dnaaf1; Synonyms=lrrc50; ORFNames=zgc:56169;
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 MRNA].
RG   NIH - Zebrafish Gene Collection (ZGC) project;
RL   Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   FUNCTION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, AND DISRUPTION
RP   PHENOTYPE.
RX   PubMed=18385425; DOI=10.1681/asn.2007080917;
RA   van Rooijen E., Giles R.H., Voest E.E., van Rooijen C., Schulte-Merker S.,
RA   van Eeden F.J.;
RT   "LRRC50, a conserved ciliary protein implicated in polycystic kidney
RT   disease.";
RL   J. Am. Soc. Nephrol. 19:1128-1138(2008).
CC   -!- FUNCTION: Cilium-specific protein required for the stability of the
CC       ciliary architecture. Involved in regulation of microtubule-based cilia
CC       and actin-based brush border microvilli (Probable).
CC       {ECO:0000305|PubMed:18385425}.
CC   -!- SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000250}.
CC   -!- TISSUE SPECIFICITY: Specifically expressed in all ciliated tissues.
CC       {ECO:0000269|PubMed:18385425}.
CC   -!- DEVELOPMENTAL STAGE: Expressed in ciliated tissues throughout
CC       development. At gastrula stages, it is highly expressed in dorsal
CC       forerunner cells, which aggregate to form the ciliated Kupffer's
CC       vesicle. At the 12-somite stage (14 hpf), expression is restricted to
CC       the otic placode, pronephric duct primordia and floorplate. At 20 hpf,
CC       it is expressed in the pronephric duct, neural tube, nose and diffusely
CC       in the brain. Expression becomes restricted to the nose and lateral
CC       line organs at 72 hpf. {ECO:0000269|PubMed:18385425}.
CC   -!- DISRUPTION PHENOTYPE: Development of pronephric cysts followed by death
CC       during early larval stages, at approximately 8 dpf, as a result of
CC       severe edema that is likely to be a consequence of pronephric disease
CC       progression. Fishes develop pronephric cysts with an increased
CC       proliferative index, severely reduced brush border, and disorganized
CC       pronephric cilia manifesting impaired localized fluid flow consistent
CC       with ciliary dysfunction. Electron microscopy analysis reveal
CC       ultrastructural irregularities of the dynein arms and misalignments of
CC       the outer-doublet microtubules on the ciliary axonemes.
CC       {ECO:0000269|PubMed:18385425}.
CC   -!- SIMILARITY: Belongs to the DNAAF1 family. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAH45963.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR   EMBL; BC045963; AAH45963.1; ALT_INIT; mRNA.
DR   AlphaFoldDB; Q7ZV84; -.
DR   SMR; Q7ZV84; -.
DR   STRING; 7955.ENSDARP00000115728; -.
DR   PaxDb; Q7ZV84; -.
DR   ZFIN; ZDB-GENE-031114-4; dnaaf1.
DR   eggNOG; ENOG502QQFE; Eukaryota.
DR   InParanoid; Q7ZV84; -.
DR   PhylomeDB; Q7ZV84; -.
DR   PRO; PR:Q7ZV84; -.
DR   Proteomes; UP000000437; Genome assembly.
DR   Proteomes; UP000814640; Unplaced.
DR   GO; GO:0005930; C:axoneme; ISS:UniProtKB.
DR   GO; GO:0070840; F:dynein complex binding; IMP:UniProtKB.
DR   GO; GO:0035082; P:axoneme assembly; IMP:ZFIN.
DR   GO; GO:0003305; P:cell migration involved in heart jogging; IMP:ZFIN.
DR   GO; GO:0060271; P:cilium assembly; IMP:UniProtKB.
DR   GO; GO:0060027; P:convergent extension involved in gastrulation; IMP:ZFIN.
DR   GO; GO:0061371; P:determination of heart left/right asymmetry; IMP:ZFIN.
DR   GO; GO:0007368; P:determination of left/right symmetry; IMP:ZFIN.
DR   GO; GO:0003143; P:embryonic heart tube morphogenesis; IMP:ZFIN.
DR   GO; GO:0007369; P:gastrulation; IMP:ZFIN.
DR   GO; GO:0003146; P:heart jogging; IMP:ZFIN.
DR   GO; GO:0001947; P:heart looping; IMP:ZFIN.
DR   GO; GO:0003314; P:heart rudiment morphogenesis; IMP:ZFIN.
DR   GO; GO:0036159; P:inner dynein arm assembly; IEA:InterPro.
DR   GO; GO:0036158; P:outer dynein arm assembly; IEA:InterPro.
DR   GO; GO:0048793; P:pronephros development; IMP:ZFIN.
DR   GO; GO:0007283; P:spermatogenesis; IMP:ZFIN.
DR   Gene3D; 3.80.10.10; -; 2.
DR   InterPro; IPR027734; DNAAF1.
DR   InterPro; IPR001611; Leu-rich_rpt.
DR   InterPro; IPR032675; LRR_dom_sf.
DR   PANTHER; PTHR45973:SF19; PTHR45973:SF19; 1.
DR   PROSITE; PS51450; LRR; 7.
PE   2: Evidence at transcript level;
KW   Cell projection; Cilium; Leucine-rich repeat; Reference proteome; Repeat.
FT   CHAIN           1..555
FT                   /note="Dynein axonemal assembly factor 1"
FT                   /id="PRO_0000363933"
FT   REPEAT          74..96
FT                   /note="LRR 1"
FT   REPEAT          97..118
FT                   /note="LRR 2"
FT   REPEAT          119..140
FT                   /note="LRR 3"
FT   REPEAT          141..162
FT                   /note="LRR 4"
FT   REPEAT          163..184
FT                   /note="LRR 5"
FT   REPEAT          188..209
FT                   /note="LRR 6"
FT   DOMAIN          223..261
FT                   /note="LRRCT"
FT   REGION          1..27
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          299..401
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        1..18
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        344..389
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ   SEQUENCE   555 AA;  62145 MW;  3E2499ACF1743F67 CRC64;
     MKTKMIVSTS MNAGEGTRTE AEDTSKGVAS LADLDSQSAA AEVSESDIKP SGPRITKDFL
     REHCKKNKLY LTPRLNDTLY LHFKGFSCIE GLEEYTGLRC LWLECNGIRK IENLENQTEL
     RCLFLHQNLI HTLENLEPLS KLCTLNVSNN YIKVIENISS LSDLSTLQIS HNTLGNVCDM
     EELSHCPSIS VLDLSHNRIS DPALVNILEK MPDLRVLNLM GNEVIKKIPN YRKTLIVRLK
     QLTYLDDRPV FPKDRACAEA WAAGGLEGEQ KEREMWQTRE RRKIQESLDA MTAIRETALK
     RRQDRELSEK GIIEFPSPVA EDQSPHDEIS DIEPAESDSD SETTQEQTDA SPSPSEMDHN
     FNSASDDSDQ SQPQPNESVH SSFDEEQIRQ SATWGLKPKE EKNQILSIYT KPSQSDQRVL
     ISVSGPGALV TELISEDEIE SINLSDEPVL TIDDLPDLED EENSHILPIT SQSGMRPKIE
     VISSIDTESE AVRSLYPWPH SDAVALDQSQ QLISVSTTRN SVKQQSTAFT SLAEAGDDVP
     KAAEKRKTVL IEELD
 
 
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