DAAF3_HUMAN
ID DAAF3_HUMAN Reviewed; 541 AA.
AC Q8N9W5; A8MUY0; E3W9A1; E9PAX5; Q6P4F6; Q8N9W0; Q96AR2;
DT 21-AUG-2007, integrated into UniProtKB/Swiss-Prot.
DT 12-SEP-2018, sequence version 4.
DT 03-AUG-2022, entry version 135.
DE RecName: Full=Dynein axonemal assembly factor 3;
GN Name=DNAAF3; Synonyms=C19orf51;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 5).
RC TISSUE=Brain, and Pancreas;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP VARIANT CILD2 PRO-61, VARIANT THR-278, AND FUNCTION.
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 -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=Q8N9W5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N9W5-5; Sequence=VSP_039967, VSP_039968;
CC Name=3;
CC IsoId=Q8N9W5-3; Sequence=VSP_042976, VSP_039966, VSP_039969;
CC Name=4;
CC IsoId=Q8N9W5-6; Sequence=VSP_042976;
CC Name=5;
CC IsoId=Q8N9W5-7; Sequence=VSP_055742;
CC -!- DISEASE: Ciliary dyskinesia, primary, 2 (CILD2) [MIM:606763]: A
CC disorder characterized by abnormalities of motile cilia. Respiratory
CC infections leading to chronic inflammation and bronchiectasis are
CC recurrent, due to defects in the respiratory cilia; reduced fertility
CC is often observed in male patients due to abnormalities of sperm tails.
CC Half of the patients exhibit randomization of left-right body asymmetry
CC and situs inversus, due to dysfunction of monocilia at the embryonic
CC node. Primary ciliary dyskinesia associated with situs inversus is
CC referred to as Kartagener syndrome. {ECO:0000269|PubMed:22387996}.
CC Note=The disease is caused by variants affecting the gene represented
CC in this entry.
CC -!- MISCELLANEOUS: [Isoform 2]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the DNAAF3 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC04177.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};
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DR EMBL; AK093458; BAC04172.1; -; mRNA.
DR EMBL; AK093473; BAC04177.1; ALT_SEQ; mRNA.
DR EMBL; AK097388; BAC05029.1; -; mRNA.
DR EMBL; AC010327; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC016843; AAH16843.1; -; mRNA.
DR EMBL; BC063449; AAH63449.1; -; mRNA.
DR CCDS; CCDS12918.2; -. [Q8N9W5-6]
DR CCDS; CCDS58679.1; -. [Q8N9W5-7]
DR CCDS; CCDS58680.1; -. [Q8N9W5-3]
DR CCDS; CCDS59422.1; -. [Q8N9W5-1]
DR RefSeq; NP_001243643.1; NM_001256714.1. [Q8N9W5-3]
DR RefSeq; NP_001243644.1; NM_001256715.1. [Q8N9W5-1]
DR RefSeq; NP_001243645.1; NM_001256716.1. [Q8N9W5-7]
DR RefSeq; NP_849159.2; NM_178837.4. [Q8N9W5-6]
DR AlphaFoldDB; Q8N9W5; -.
DR BioGRID; 131582; 5.
DR IntAct; Q8N9W5; 3.
DR STRING; 9606.ENSP00000436975; -.
DR iPTMnet; Q8N9W5; -.
DR PhosphoSitePlus; Q8N9W5; -.
DR BioMuta; DNAAF3; -.
DR DMDM; 229462985; -.
DR jPOST; Q8N9W5; -.
DR MassIVE; Q8N9W5; -.
DR PaxDb; Q8N9W5; -.
DR PeptideAtlas; Q8N9W5; -.
DR PRIDE; Q8N9W5; -.
DR ProteomicsDB; 15295; -.
DR ProteomicsDB; 72595; -. [Q8N9W5-1]
DR ProteomicsDB; 72596; -. [Q8N9W5-3]
DR ProteomicsDB; 72598; -. [Q8N9W5-6]
DR Antibodypedia; 50890; 91 antibodies from 15 providers.
DR DNASU; 352909; -.
DR Ensembl; ENST00000391720.8; ENSP00000375600.5; ENSG00000167646.14. [Q8N9W5-6]
DR Ensembl; ENST00000455045.5; ENSP00000394343.1; ENSG00000167646.14. [Q8N9W5-7]
DR Ensembl; ENST00000524407.7; ENSP00000432046.3; ENSG00000167646.14. [Q8N9W5-1]
DR Ensembl; ENST00000527223.6; ENSP00000436975.2; ENSG00000167646.14. [Q8N9W5-3]
DR Ensembl; ENST00000528412.5; ENSP00000433826.2; ENSG00000167646.14. [Q8N9W5-5]
DR Ensembl; ENST00000534214.1; ENSP00000433247.2; ENSG00000167646.14. [Q8N9W5-5]
DR GeneID; 352909; -.
DR KEGG; hsa:352909; -.
DR MANE-Select; ENST00000524407.7; ENSP00000432046.3; NM_001256715.2; NP_001243644.1.
DR UCSC; uc002qji.3; human. [Q8N9W5-1]
DR CTD; 352909; -.
DR DisGeNET; 352909; -.
DR GeneCards; DNAAF3; -.
DR GeneReviews; DNAAF3; -.
DR HGNC; HGNC:30492; DNAAF3.
DR HPA; ENSG00000167646; Group enriched (fallopian tube, testis).
DR MalaCards; DNAAF3; -.
DR MIM; 606763; phenotype.
DR MIM; 614566; gene.
DR neXtProt; NX_Q8N9W5; -.
DR OpenTargets; ENSG00000167646; -.
DR Orphanet; 244; Primary ciliary dyskinesia.
DR PharmGKB; PA147358371; -.
DR VEuPathDB; HostDB:ENSG00000167646; -.
DR eggNOG; ENOG502QT97; Eukaryota.
DR GeneTree; ENSGT00390000002069; -.
DR HOGENOM; CLU_156270_0_0_1; -.
DR InParanoid; Q8N9W5; -.
DR OrthoDB; 681465at2759; -.
DR PhylomeDB; Q8N9W5; -.
DR PathwayCommons; Q8N9W5; -.
DR SignaLink; Q8N9W5; -.
DR BioGRID-ORCS; 352909; 10 hits in 1077 CRISPR screens.
DR GenomeRNAi; 352909; -.
DR Pharos; Q8N9W5; Tbio.
DR PRO; PR:Q8N9W5; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q8N9W5; protein.
DR Bgee; ENSG00000167646; Expressed in apex of heart and 97 other tissues.
DR ExpressionAtlas; Q8N9W5; baseline and differential.
DR Genevisible; Q8N9W5; HS.
DR GO; GO:0120293; C:dynein axonemal particle; ISS:UniProtKB.
DR GO; GO:0070286; P:axonemal dynein complex assembly; IMP:UniProtKB.
DR GO; GO:0007368; P:determination of left/right symmetry; IEA:Ensembl.
DR GO; GO:0007507; P:heart development; IEA:Ensembl.
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 1: Evidence at protein level;
KW Alternative splicing; Ciliopathy; Cilium biogenesis/degradation; Cytoplasm;
KW Disease variant; Kartagener syndrome; Primary ciliary dyskinesia;
KW Reference proteome.
FT CHAIN 1..541
FT /note="Dynein axonemal assembly factor 3"
FT /id="PRO_0000297580"
FT REGION 332..353
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 490..541
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..76
FT /note="MTTPAGSGSGFGSVSWWGLSPALDLQAESPPVDPDSQADTVHSNPELDVLLL
FT GSVDGRHLLRTLSRAKFWPRRRFN -> MKMRAQIPESLREEGIEILKPQ (in
FT isoform 5)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_055742"
FT VAR_SEQ 1
FT /note="M -> MLPLLDSSKRAGTLGSGCGVPRVHSAALSREEGASRDIWRIKVWARV
FT M (in isoform 3 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_042976"
FT VAR_SEQ 29
FT /note="S -> RDATVDALPTTMVPQPAVILPG (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_039966"
FT VAR_SEQ 77..95
FT /note="FFVLENNLEAVARHMLIFS -> VSWDEDESPDSRVLEGGRD (in
FT isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_039967"
FT VAR_SEQ 96..541
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_039968"
FT VAR_SEQ 350
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_039969"
FT VARIANT 61
FT /note="L -> P (in CILD2; dbSNP:rs387907151)"
FT /evidence="ECO:0000269|PubMed:22387996"
FT /id="VAR_067300"
FT VARIANT 278
FT /note="A -> T (in dbSNP:rs200775946)"
FT /evidence="ECO:0000269|PubMed:22387996"
FT /id="VAR_067301"
FT VARIANT 292
FT /note="E -> G (in dbSNP:rs2365725)"
FT /id="VAR_055306"
FT VARIANT 331
FT /note="G -> W (in dbSNP:rs7508641)"
FT /id="VAR_055307"
FT VARIANT 365
FT /note="N -> D (in dbSNP:rs890872)"
FT /id="VAR_055308"
SQ SEQUENCE 541 AA; 59410 MW; 58BF0BFAFEC602BC CRC64;
MTTPAGSGSG FGSVSWWGLS PALDLQAESP PVDPDSQADT VHSNPELDVL LLGSVDGRHL
LRTLSRAKFW PRRRFNFFVL ENNLEAVARH MLIFSLALEE PEKMGLQERS ETFLEVWGNA
LLRPPVAAFV RAQADLLAHL VPEPDRLEEQ LPWLSLRALK FRERDALEAV FRFWAGGEKG
PQAFPMSRLW DSRLRHYLGS RYDARRGVSD WDLRMKLHDR GAQVIHPQEF RRWRDTGVAF
ELRDSSAYHV PNRTLASGRL LSYRGERVAA RGYWGDIATG PFVAFGIEAD DESLLRTSNG
QPVKTAGEIT QHNVTELLRD VAAWGRARAT GGDLEEQQHA EGSPEPGTPA APTPESFTVH
FLPLNSAQTL HHKSCYNGRF QLLYVACGMV HLLIPELGAC VAPGGNLIVE LARYLVDVRQ
EQLQGFNTRV RELAQAAGFA PQTGARPSET FARFCKSQES ALGNTVPAVE PGTPPLDILA
QPLEASNPAL EGLTQPLQGG TPHCEPCQLP SESPGSLSEV LAQPQGALAP PNCESDSKTG
V
