ODAD4_HUMAN
ID ODAD4_HUMAN Reviewed; 672 AA.
AC Q96NG3; Q6NX40; Q6PJ04; Q9H0K5;
DT 17-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 17-APR-2007, sequence version 2.
DT 03-AUG-2022, entry version 163.
DE RecName: Full=Outer dynein arm-docking complex subunit 4;
DE AltName: Full=Tetratricopeptide repeat protein 25;
DE Short=TPR repeat protein 25;
GN Name=ODAD4 {ECO:0000312|HGNC:HGNC:25280}; Synonyms=TTC25;
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 1).
RC TISSUE=Testis;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Testis;
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 INTERACTION WITH COMPONENTS OF THE IFT A AND B COMPLEXES.
RX PubMed=25860617; DOI=10.1371/journal.pone.0124378;
RA Xu Y., Cao J., Huang S., Feng D., Zhang W., Zhu X., Yan X.;
RT "Characterization of tetratricopeptide repeat-containing proteins critical
RT for cilia formation and function.";
RL PLoS ONE 10:E0124378-E0124378(2015).
RN [5]
RP INVOLVEMENT IN CILD35, FUNCTION, INTERACTION WITH ODAD1, SUBCELLULAR
RP LOCATION, TISSUE SPECIFICITY, AND SUBUNIT.
RX PubMed=27486780; DOI=10.1016/j.ajhg.2016.06.014;
RA Wallmeier J., Shiratori H., Dougherty G.W., Edelbusch C., Hjeij R.,
RA Loges N.T., Menchen T., Olbrich H., Pennekamp P., Raidt J., Werner C.,
RA Minegishi K., Shinohara K., Asai Y., Takaoka K., Lee C., Griese M.,
RA Memari Y., Durbin R., Kolb-Kokocinski A., Sauer S., Wallingford J.B.,
RA Hamada H., Omran H.;
RT "TTC25 deficiency results in defects of the outer dynein arm docking
RT machinery and primary ciliary dyskinesia with left-right body asymmetry
RT randomization.";
RL Am. J. Hum. Genet. 99:460-469(2016).
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. Plays an essential role for the assembly of ODA-DC and for
CC the docking of ODA in ciliary axoneme. {ECO:0000269|PubMed:27486780}.
CC -!- SUBUNIT: Component of the outer dynein arm-docking complex along with
CC ODAD1, ODAD2 and ODAD3. Interacts with ODAD1; this interaction may
CC facilitate the recruitment and/or attachment of outer dynein arm
CC docking complex proteins, including ODAD1, ODAD3 and ODAD2, to ciliary
CC axonemes (PubMed:27486780). Interacts with components of the IFT
CC complex A, including IFT140, TTC21B/IFT139 and WDR19/IFT144, and the
CC IFT complex B, including IFT46, IFT52 and IFT57 (PubMed:25860617).
CC {ECO:0000269|PubMed:25860617, ECO:0000269|PubMed:27486780}.
CC -!- INTERACTION:
CC Q96NG3; Q15834: CCDC85B; NbExp=3; IntAct=EBI-1046387, EBI-739674;
CC Q96NG3; Q8NHQ1: CEP70; NbExp=3; IntAct=EBI-1046387, EBI-739624;
CC Q96NG3; Q08379: GOLGA2; NbExp=3; IntAct=EBI-1046387, EBI-618309;
CC Q96NG3; Q6A162: KRT40; NbExp=3; IntAct=EBI-1046387, EBI-10171697;
CC Q96NG3; P50222: MEOX2; NbExp=3; IntAct=EBI-1046387, EBI-748397;
CC Q96NG3; Q13064: MKRN3; NbExp=3; IntAct=EBI-1046387, EBI-2340269;
CC Q96NG3; P15173: MYOG; NbExp=3; IntAct=EBI-1046387, EBI-3906629;
CC Q96NG3; Q7Z6G3-2: NECAB2; NbExp=3; IntAct=EBI-1046387, EBI-10172876;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000269|PubMed:27486780}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96NG3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96NG3-2; Sequence=VSP_024548, VSP_024549;
CC -!- TISSUE SPECIFICITY: Expressed in the nasal mucosa (at protein level).
CC {ECO:0000269|PubMed:27486780}.
CC -!- DISEASE: Ciliary dyskinesia, primary, 35 (CILD35) [MIM:617092]: A form
CC of primary ciliary dyskinesia, a disorder characterized by
CC abnormalities of motile cilia. Respiratory infections leading to
CC chronic inflammation and bronchiectasis are recurrent, due to defects
CC in the respiratory cilia. Some patients exhibit randomization of left-
CC right body asymmetry and situs inversus. Primary ciliary dyskinesia
CC associated with situs inversus is referred to as Kartagener syndrome.
CC CILD35 inheritance is autosomal recessive.
CC {ECO:0000269|PubMed:27486780}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH67297.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AL136760; CAB66694.1; -; mRNA.
DR EMBL; AK055498; BAB70936.1; -; mRNA.
DR EMBL; BC025390; AAH25390.1; -; mRNA.
DR EMBL; BC067297; AAH67297.1; ALT_FRAME; mRNA.
DR CCDS; CCDS74063.1; -. [Q96NG3-1]
DR RefSeq; NP_113609.1; NM_031421.3. [Q96NG3-1]
DR AlphaFoldDB; Q96NG3; -.
DR SMR; Q96NG3; -.
DR BioGRID; 123671; 25.
DR IntAct; Q96NG3; 19.
DR MINT; Q96NG3; -.
DR STRING; 9606.ENSP00000478589; -.
DR GlyGen; Q96NG3; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q96NG3; -.
DR PhosphoSitePlus; Q96NG3; -.
DR BioMuta; TTC25; -.
DR DMDM; 145572736; -.
DR MassIVE; Q96NG3; -.
DR MaxQB; Q96NG3; -.
DR PeptideAtlas; Q96NG3; -.
DR PRIDE; Q96NG3; -.
DR ProteomicsDB; 77508; -. [Q96NG3-1]
DR ProteomicsDB; 77509; -. [Q96NG3-2]
DR Antibodypedia; 8054; 18 antibodies from 11 providers.
DR DNASU; 83538; -.
DR Ensembl; ENST00000377540.6; ENSP00000478589.1; ENSG00000204815.10. [Q96NG3-1]
DR GeneID; 83538; -.
DR KEGG; hsa:83538; -.
DR MANE-Select; ENST00000377540.6; ENSP00000478589.1; NM_031421.5; NP_113609.1.
DR UCSC; uc032fin.2; human. [Q96NG3-1]
DR CTD; 83538; -.
DR DisGeNET; 83538; -.
DR GeneCards; ODAD4; -.
DR HGNC; HGNC:25280; ODAD4.
DR HPA; ENSG00000204815; Group enriched (fallopian tube, testis).
DR MalaCards; ODAD4; -.
DR MIM; 617092; phenotype.
DR MIM; 617095; gene.
DR neXtProt; NX_Q96NG3; -.
DR OpenTargets; ENSG00000204815; -.
DR Orphanet; 244; Primary ciliary dyskinesia.
DR VEuPathDB; HostDB:ENSG00000204815; -.
DR eggNOG; KOG1124; Eukaryota.
DR GeneTree; ENSGT00390000007911; -.
DR HOGENOM; CLU_023648_2_1_1; -.
DR InParanoid; Q96NG3; -.
DR OMA; WDHIEDE; -.
DR OrthoDB; 1417967at2759; -.
DR PhylomeDB; Q96NG3; -.
DR PathwayCommons; Q96NG3; -.
DR SignaLink; Q96NG3; -.
DR SIGNOR; Q96NG3; -.
DR BioGRID-ORCS; 83538; 9 hits in 206 CRISPR screens.
DR ChiTaRS; TTC25; human.
DR GeneWiki; TTC25; -.
DR GenomeRNAi; 83538; -.
DR Pharos; Q96NG3; Tdark.
DR PRO; PR:Q96NG3; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q96NG3; protein.
DR Bgee; ENSG00000204815; Expressed in right uterine tube and 145 other tissues.
DR ExpressionAtlas; Q96NG3; baseline and differential.
DR Genevisible; Q96NG3; HS.
DR GO; GO:0097728; C:9+0 motile cilium; IEA:Ensembl.
DR GO; GO:0097729; C:9+2 motile cilium; IDA:GO_Central.
DR GO; GO:0005930; C:axoneme; IDA:GO_Central.
DR GO; GO:0005737; C:cytoplasm; IDA:LIFEdb.
DR GO; GO:0005576; C:extracellular region; IEA:GOC.
DR GO; GO:0120228; C:outer dynein arm docking complex; IDA:GO_Central.
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; IDA:GO_Central.
DR GO; GO:0060287; P:epithelial cilium movement involved in determination of left/right asymmetry; IMP:GO_Central.
DR GO; GO:0007507; P:heart development; IEA:Ensembl.
DR GO; GO:0030324; P:lung development; IEA:Ensembl.
DR GO; GO:0120197; P:mucociliary clearance; IMP:GO_Central.
DR GO; GO:0036158; P:outer dynein arm assembly; IDA:GO_Central.
DR GO; GO:0120229; P:protein localization to motile cilium; IMP:GO_Central.
DR Gene3D; 1.25.40.10; -; 2.
DR InterPro; IPR040111; ODAD4.
DR InterPro; IPR011990; TPR-like_helical_dom_sf.
DR InterPro; IPR041617; TPR_MalT.
DR InterPro; IPR019734; TPR_repeat.
DR PANTHER; PTHR23040; PTHR23040; 1.
DR Pfam; PF17874; TPR_MalT; 1.
DR SMART; SM00028; TPR; 7.
DR SUPFAM; SSF48452; SSF48452; 1.
DR PROSITE; PS50005; TPR; 6.
DR PROSITE; PS50293; TPR_REGION; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Ciliopathy; Cytoplasm; Cytoskeleton;
KW Kartagener syndrome; Primary ciliary dyskinesia; Reference proteome;
KW Repeat; TPR repeat.
FT CHAIN 1..672
FT /note="Outer dynein arm-docking complex subunit 4"
FT /id="PRO_0000284507"
FT REPEAT 13..46
FT /note="TPR 1"
FT /evidence="ECO:0000255"
FT REPEAT 48..80
FT /note="TPR 2"
FT /evidence="ECO:0000255"
FT REPEAT 81..114
FT /note="TPR 3"
FT /evidence="ECO:0000255"
FT REPEAT 275..311
FT /note="TPR 4"
FT /evidence="ECO:0000255"
FT REPEAT 320..353
FT /note="TPR 5"
FT /evidence="ECO:0000255"
FT REPEAT 360..393
FT /note="TPR 6"
FT /evidence="ECO:0000255"
FT REPEAT 397..430
FT /note="TPR 7"
FT /evidence="ECO:0000255"
FT REPEAT 437..470
FT /note="TPR 8"
FT /evidence="ECO:0000255"
FT REGION 527..672
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 527..544
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 598..672
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 209..292
FT /note="DLIKGTMKGGLTVEDLIMTGINYLDTHSNFWRQQKPIYARERDRKLMQEKWL
FT RDHKRRPSQTAHYILKSLEDIDMLLTSGSAEG -> VTFLMQNREPLTTLAEFLPELGN
FT SSKPLTRGKKRSLWQKPPWRRPGCSTRSAAATWSWTRPGRPRIMARSPSSVPRRKGTLS
FT GN (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024548"
FT VAR_SEQ 293..672
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024549"
FT VARIANT 4
FT /note="P -> S (in dbSNP:rs34516580)"
FT /id="VAR_031758"
FT VARIANT 18
FT /note="A -> G (in dbSNP:rs35516909)"
FT /id="VAR_031759"
FT CONFLICT 43
FT /note="Q -> K (in Ref. 3; AAH25390)"
FT /evidence="ECO:0000305"
FT CONFLICT 244
FT /note="P -> L (in Ref. 2; BAB70936)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 672 AA; 76655 MW; 15683F576C1DAC35 CRC64;
MSDPEGETLR STFPSYMAEG ERLYLCGEFS KAAQSFSNAL YLQDGDKNCL VARSKCFLKM
GDLERSLKDA EASLQSDPAF CKGILQKAET LYTMGDFEFA LVFYHRGYKL RPDREFRVGI
QKAQEAINNS VGSPSSIKLE NKGDLSFLSK QAENIKAQQK PQPMKHLLHP TKGEPKWKAS
LKSEKTVRQL LGELYVDKEY LEKLLLDEDL IKGTMKGGLT VEDLIMTGIN YLDTHSNFWR
QQKPIYARER DRKLMQEKWL RDHKRRPSQT AHYILKSLED IDMLLTSGSA EGSLQKAEKV
LKKVLEWNKE EVPNKDELVG NLYSCIGNAQ IELGQMEAAL QSHRKDLEIA KEYDLPDAKS
RALDNIGRVF ARVGKFQQAI DTWEEKIPLA KTTLEKTWLF HEIGRCYLEL DQAWQAQNYG
EKSQQCAEEE GDIEWQLNAS VLVAQAQVKL RDFESAVNNF EKALERAKLV HNNEAQQAII
SALDDANKGI IRELRKTNYV ENLKEKSEGE ASLYEDRIIT REKDMRRVRD EPEKVVKQWD
HSEDEKETDE DDEAFGEALQ SPASGKQSVE AGKARSDLGA VAKGLSGELG TRSGETGRKL
LEAGRRESRE IYRRPSGELE QRLSGEFSRQ EPEELKKLSE VGRREPEELG KTQFGEIGET
KKTGNEMEKE YE
