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