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   27-MAR-2024, entry version 142.
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; 9606-ENSP00000436975; -.
DR   PeptideAtlas; Q8N9W5; -.
DR   ProteomicsDB; 15295; -.
DR   ProteomicsDB; 72595; -. [Q8N9W5-1]
DR   ProteomicsDB; 72596; -. [Q8N9W5-3]
DR   ProteomicsDB; 72598; -. [Q8N9W5-6]
DR   Antibodypedia; 50890; 113 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   AGR; HGNC:30492; -.
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   OMA; MREGIYQ; -.
DR   OrthoDB; 5481669at2759; -.
DR   PhylomeDB; Q8N9W5; -.
DR   PathwayCommons; Q8N9W5; -.
DR   SignaLink; Q8N9W5; -.
DR   BioGRID-ORCS; 352909; 10 hits in 1155 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 99 other cell types or tissues.
DR   ExpressionAtlas; Q8N9W5; baseline and differential.
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; DYNEIN ASSEMBLY FACTOR 3, AXONEMAL; 1.
DR   PANTHER; PTHR22118:SF14; DYNEIN AXONEMAL ASSEMBLY FACTOR 3; 1.
DR   Pfam; PF14737; DUF4470; 1.
DR   Pfam; PF14740; DUF4471; 1.
DR   Genevisible; Q8N9W5; HS.
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
//