ODAD3_HUMAN
ID ODAD3_HUMAN Reviewed; 595 AA.
AC A5D8V7; B4DXT0; Q96CG5;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 12-JUN-2007, sequence version 1.
DT 03-AUG-2022, entry version 119.
DE RecName: Full=Outer dynein arm-docking complex subunit 3;
DE AltName: Full=Coiled-coil domain-containing protein 151;
GN Name=ODAD3 {ECO:0000312|HGNC:HGNC:28303}; Synonyms=CCDC151;
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] (ISOFORM 2).
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 GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Eye;
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 [5]
RP INVOLVEMENT IN CILD30, INTERACTION WITH ODAD1, SUBCELLULAR LOCATION,
RP FUNCTION, AND SUBUNIT.
RX PubMed=25192045; DOI=10.1016/j.ajhg.2014.08.005;
RG UK10K Consortium;
RA Hjeij R., Onoufriadis A., Watson C.M., Slagle C.E., Klena N.T.,
RA Dougherty G.W., Kurkowiak M., Loges N.T., Diggle C.P., Morante N.F.,
RA Gabriel G.C., Lemke K.L., Li Y., Pennekamp P., Menchen T., Konert F.,
RA Marthin J.K., Mans D.A., Letteboer S.J., Werner C., Burgoyne T.,
RA Westermann C., Rutman A., Carr I.M., O'Callaghan C., Moya E., Chung E.M.,
RA Sheridan E., Nielsen K.G., Roepman R., Bartscherer K., Burdine R.D.,
RA Lo C.W., Omran H., Mitchison H.M.;
RT "CCDC151 mutations cause primary ciliary dyskinesia by disruption of the
RT outer dynein arm docking complex formation.";
RL Am. J. Hum. Genet. 95:257-274(2014).
RN [6]
RP INVOLVEMENT IN CILD30.
RX PubMed=25224326; DOI=10.1002/humu.22698;
RA Alsaadi M.M., Erzurumluoglu A.M., Rodriguez S., Guthrie P.A., Gaunt T.R.,
RA Omar H.Z., Mubarak M., Alharbi K.K., Al-Rikabi A.C., Day I.N.;
RT "Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151)
RT causes primary ciliary dyskinesia.";
RL Hum. Mutat. 35:1446-1448(2014).
CC -!- FUNCTION: Component of the outer dynein arm-docking complex (ODA-DC)
CC that mediates outer dynein arms (ODA) binding onto the doublet
CC microtubule (PubMed:25192045). Involved in mediating assembly of both
CC ODAs and their axonemal docking complex onto ciliary microtubules
CC (PubMed:25192045). {ECO:0000269|PubMed:25192045}.
CC -!- SUBUNIT: Component of the outer dynein arm-docking complex along with
CC ODAD1, ODAD2, ODAD4 and CLXN (PubMed:25192045). Interacts with ODAD1
CC (PubMed:25192045). Interacts with PIERCE1 and PIERCE2; the interactions
CC link the outer dynein arms docking complex (ODA-DC) to the internal
CC microtubule inner proteins (MIP) in cilium axoneme (By similarity).
CC {ECO:0000250|UniProtKB:A7MBH5, ECO:0000269|PubMed:25192045}.
CC -!- INTERACTION:
CC A5D8V7; P22607: FGFR3; NbExp=3; IntAct=EBI-8466445, EBI-348399;
CC A5D8V7; Q53GS7: GLE1; NbExp=3; IntAct=EBI-8466445, EBI-1955541;
CC A5D8V7; P06396: GSN; NbExp=3; IntAct=EBI-8466445, EBI-351506;
CC A5D8V7; P01112: HRAS; NbExp=3; IntAct=EBI-8466445, EBI-350145;
CC A5D8V7; O60341: KDM1A; NbExp=2; IntAct=EBI-8466445, EBI-710124;
CC A5D8V7; O14901: KLF11; NbExp=3; IntAct=EBI-8466445, EBI-948266;
CC A5D8V7; Q2M2I5: KRT24; NbExp=3; IntAct=EBI-8466445, EBI-2952736;
CC A5D8V7; Q7Z3Y8: KRT27; NbExp=3; IntAct=EBI-8466445, EBI-3044087;
CC A5D8V7; Q5JR59-3: MTUS2; NbExp=3; IntAct=EBI-8466445, EBI-11522433;
CC A5D8V7; Q7Z6G3-2: NECAB2; NbExp=3; IntAct=EBI-8466445, EBI-10172876;
CC A5D8V7; Q96M63: ODAD1; NbExp=3; IntAct=EBI-8466445, EBI-10173858;
CC A5D8V7; Q15276: RABEP1; NbExp=3; IntAct=EBI-8466445, EBI-447043;
CC A5D8V7; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-8466445, EBI-5235340;
CC A5D8V7; O43463: SUV39H1; NbExp=2; IntAct=EBI-8466445, EBI-349968;
CC A5D8V7; Q9UBB9: TFIP11; NbExp=6; IntAct=EBI-8466445, EBI-1105213;
CC A5D8V7; Q8N3L3: TXLNB; NbExp=3; IntAct=EBI-8466445, EBI-6116822;
CC A5D8V7; Q9UMX0: UBQLN1; NbExp=3; IntAct=EBI-8466445, EBI-741480;
CC A5D8V7; Q8N6Y0: USHBP1; NbExp=3; IntAct=EBI-8466445, EBI-739895;
CC A5D8V7-2; Q7Z6G3-2: NECAB2; NbExp=3; IntAct=EBI-10173824, EBI-10172876;
CC A5D8V7-2; Q96M63: ODAD1; NbExp=3; IntAct=EBI-10173824, EBI-10173858;
CC A5D8V7-2; Q9UBB9: TFIP11; NbExp=3; IntAct=EBI-10173824, EBI-1105213;
CC A5D8V7-2; Q8N3L3: TXLNB; NbExp=3; IntAct=EBI-10173824, EBI-6116822;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body
CC {ECO:0000250|UniProtKB:Q8BSN3}. Cytoplasm, cytoskeleton, microtubule
CC organizing center, centrosome, centriole
CC {ECO:0000250|UniProtKB:Q8BSN3}. Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000269|PubMed:25192045}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=A5D8V7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=A5D8V7-2; Sequence=VSP_056903;
CC -!- DISEASE: Ciliary dyskinesia, primary, 30 (CILD30) [MIM:616037]: 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. Patients may
CC exhibit randomization of left-right body asymmetry and situs inversus,
CC due to dysfunction of monocilia at the embryonic node. Primary ciliary
CC dyskinesia associated with situs inversus is referred to as Kartagener
CC syndrome. {ECO:0000269|PubMed:25192045, ECO:0000269|PubMed:25224326}.
CC Note=The disease is caused by variants affecting the gene represented
CC in this entry.
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DR EMBL; AK302113; BAG63492.1; -; mRNA.
DR EMBL; AC024575; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471106; EAW84213.1; -; Genomic_DNA.
DR EMBL; BC014252; AAH14252.2; -; mRNA.
DR EMBL; BC141828; AAI41829.1; -; mRNA.
DR EMBL; BC142637; AAI42638.1; -; mRNA.
DR CCDS; CCDS42501.1; -. [A5D8V7-1]
DR RefSeq; NP_001289382.1; NM_001302453.1. [A5D8V7-2]
DR RefSeq; NP_659482.3; NM_145045.4. [A5D8V7-1]
DR AlphaFoldDB; A5D8V7; -.
DR SMR; A5D8V7; -.
DR BioGRID; 125463; 37.
DR IntAct; A5D8V7; 38.
DR MINT; A5D8V7; -.
DR STRING; 9606.ENSP00000348757; -.
DR iPTMnet; A5D8V7; -.
DR PhosphoSitePlus; A5D8V7; -.
DR BioMuta; CCDC151; -.
DR EPD; A5D8V7; -.
DR jPOST; A5D8V7; -.
DR MassIVE; A5D8V7; -.
DR MaxQB; A5D8V7; -.
DR PaxDb; A5D8V7; -.
DR PeptideAtlas; A5D8V7; -.
DR PRIDE; A5D8V7; -.
DR ProteomicsDB; 5469; -.
DR ProteomicsDB; 713; -. [A5D8V7-1]
DR Antibodypedia; 25849; 80 antibodies from 17 providers.
DR DNASU; 115948; -.
DR Ensembl; ENST00000356392.9; ENSP00000348757.3; ENSG00000198003.12. [A5D8V7-1]
DR GeneID; 115948; -.
DR KEGG; hsa:115948; -.
DR MANE-Select; ENST00000356392.9; ENSP00000348757.3; NM_145045.5; NP_659482.3.
DR UCSC; uc002mrs.5; human. [A5D8V7-1]
DR CTD; 115948; -.
DR DisGeNET; 115948; -.
DR GeneCards; ODAD3; -.
DR GeneReviews; ODAD3; -.
DR HGNC; HGNC:28303; ODAD3.
DR HPA; ENSG00000198003; Tissue enhanced (choroid plexus, parathyroid gland, testis).
DR MalaCards; ODAD3; -.
DR MIM; 615956; gene.
DR MIM; 616037; phenotype.
DR neXtProt; NX_A5D8V7; -.
DR OpenTargets; ENSG00000198003; -.
DR Orphanet; 244; Primary ciliary dyskinesia.
DR VEuPathDB; HostDB:ENSG00000198003; -.
DR eggNOG; ENOG502QR7A; Eukaryota.
DR GeneTree; ENSGT00940000153116; -.
DR InParanoid; A5D8V7; -.
DR OMA; QPMPVCY; -.
DR PhylomeDB; A5D8V7; -.
DR TreeFam; TF324955; -.
DR PathwayCommons; A5D8V7; -.
DR SignaLink; A5D8V7; -.
DR BioGRID-ORCS; 115948; 13 hits in 1070 CRISPR screens.
DR ChiTaRS; CCDC151; human.
DR GenomeRNAi; 115948; -.
DR Pharos; A5D8V7; Tbio.
DR PRO; PR:A5D8V7; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; A5D8V7; protein.
DR Bgee; ENSG00000198003; Expressed in bronchial epithelial cell and 128 other tissues.
DR ExpressionAtlas; A5D8V7; baseline and differential.
DR Genevisible; A5D8V7; HS.
DR GO; GO:0005930; C:axoneme; IDA:UniProtKB.
DR GO; GO:0005814; C:centriole; ISS:UniProtKB.
DR GO; GO:0036064; C:ciliary basal body; ISS:UniProtKB.
DR GO; GO:0035253; C:ciliary rootlet; IBA:GO_Central.
DR GO; GO:0097542; C:ciliary tip; IBA:GO_Central.
DR GO; GO:0005929; C:cilium; ISS:UniProtKB.
DR GO; GO:0005576; C:extracellular region; IEA:GOC.
DR GO; GO:0120228; C:outer dynein arm docking complex; ISS:UniProtKB.
DR GO; GO:0007420; P:brain development; IEA:Ensembl.
DR GO; GO:0090660; P:cerebrospinal fluid circulation; IEA:Ensembl.
DR GO; GO:0003341; P:cilium movement; IMP:UniProtKB.
DR GO; GO:0061371; P:determination of heart left/right asymmetry; IEA:Ensembl.
DR GO; GO:0007368; P:determination of left/right symmetry; IMP:SYSCILIA_CCNET.
DR GO; GO:0060287; P:epithelial cilium movement involved in determination of left/right asymmetry; IEA:Ensembl.
DR GO; GO:0030317; P:flagellated sperm motility; IEA:Ensembl.
DR GO; GO:0035264; P:multicellular organism growth; IEA:Ensembl.
DR GO; GO:0036158; P:outer dynein arm assembly; IDA:SYSCILIA_CCNET.
DR GO; GO:1902017; P:regulation of cilium assembly; ISS:UniProtKB.
DR GO; GO:0007283; P:spermatogenesis; IEA:Ensembl.
DR InterPro; IPR033192; ODAD3.
DR PANTHER; PTHR46518; PTHR46518; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Ciliopathy;
KW Cilium biogenesis/degradation; Coiled coil; Cytoplasm; Cytoskeleton;
KW Kartagener syndrome; Primary ciliary dyskinesia; Reference proteome.
FT CHAIN 1..595
FT /note="Outer dynein arm-docking complex subunit 3"
FT /id="PRO_0000321526"
FT REGION 1..69
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 94..327
FT /evidence="ECO:0000255"
FT COILED 385..473
FT /evidence="ECO:0000255"
FT COMPBIAS 14..28
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..81
FT /note="MTSPLCRAASANALPPQDQASTPSSRVKGREASGKPSHLRGKGTAQAWTPGR
FT SKGGSFHRGAGKPSVHSQVAELHKKIQLL -> MHPPVAPCKKLRCPPTRSFTPTRGRS
FT K (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_056903"
FT VARIANT 545
FT /note="R -> P (in dbSNP:rs34619515)"
FT /id="VAR_050743"
FT CONFLICT 470
FT /note="A -> S (in Ref. 4; AAH14252)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 595 AA; 69140 MW; E0DA463B2F340D0E CRC64;
MTSPLCRAAS ANALPPQDQA STPSSRVKGR EASGKPSHLR GKGTAQAWTP GRSKGGSFHR
GAGKPSVHSQ VAELHKKIQL LEGDRKAFFE SSQWNIKKNQ ETISQLRKET KALELKLLDL
LKGDEKVVQA VIREWKWEKP YLKNRTGQAL EHLDHRLREK VKQQNALRHQ VVLRQRRLEE
LQLQHSLRLL EMAEAQNRHT EVAKTMRNLE NRLEKAQMKA QEAEHITSVY LQLKAYLMDE
SLNLENRLDS MEAEVVRTKH ELEALHVVNQ EALNARDIAK NQLQYLEETL VRERKKRERY
ISECKKRAEE KKLENERMER KTHREHLLLQ SDDTIQDSLH AKEEELRQRW SMYQMEVIFG
KVKDATGTDE THSLVRRFLA QGDTFAQLET LKSENEQTLV RLKQEKQQLQ RELEDLKYSG
EATLVSQQKL QAEAQERLKK EERRHAEAKD QLERALRAMQ VAKDSLEHLA SKLIHITVED
GRFAGKELDP QADNYVPNLL GLVEEKLLKL QAQLQGHDVQ EMLCHIANRE FLASLEGRLP
EYNTRIALPL ATSKDKFFDE ESEEEDNEVV TRASLKIRSQ KLIESHKKHR RSRRS
