GenomeNet

Database: UniProt
Entry: TTC25_HUMAN
LinkDB: TTC25_HUMAN
Original site: TTC25_HUMAN 
ID   TTC25_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   26-FEB-2020, entry version 151.
DE   RecName: Full=Tetratricopeptide repeat protein 25;
DE            Short=TPR repeat protein 25;
GN   Name=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 CCDC114, SUBCELLULAR
RP   LOCATION, AND TISSUE SPECIFICITY.
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: Required for the docking of the outer dynein arm to cilia,
CC       hence plays an essential role in cilia motility.
CC       {ECO:0000269|PubMed:27486780}.
CC   -!- SUBUNIT: Interacts with CCDC114 (PubMed:27486780). Interacts with
CC       components of the IFT complex A, including IFT140, TTC21B/IFT139 and
CC       WDR19/IFT144, and the IFT complex B, including IFT46, IFT52 and IFT57
CC       (PubMed:25860617). {ECO:0000269|PubMed:25860617,
CC       ECO:0000269|PubMed:27486780}.
CC   -!- INTERACTION:
CC       Q15834:CCDC85B; NbExp=3; IntAct=EBI-1046387, EBI-739674;
CC       Q8NHQ1:CEP70; NbExp=3; IntAct=EBI-1046387, EBI-739624;
CC       Q08379:GOLGA2; NbExp=3; IntAct=EBI-1046387, EBI-618309;
CC       Q6A162:KRT40; NbExp=3; IntAct=EBI-1046387, EBI-10171697;
CC       P50222:MEOX2; NbExp=3; IntAct=EBI-1046387, EBI-748397;
CC       Q13064:MKRN3; NbExp=3; IntAct=EBI-1046387, EBI-2340269;
CC       P15173:MYOG; NbExp=3; IntAct=EBI-1046387, EBI-3906629;
CC       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 mutations
CC       affecting the gene represented in this entry.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAH67297.1; Type=Frameshift; Evidence={ECO:0000305};
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   BioGrid; 123671; 20.
DR   IntAct; Q96NG3; 19.
DR   MINT; Q96NG3; -.
DR   STRING; 9606.ENSP00000478589; -.
DR   iPTMnet; Q96NG3; -.
DR   PhosphoSitePlus; Q96NG3; -.
DR   BioMuta; TTC25; -.
DR   DMDM; 145572736; -.
DR   jPOST; Q96NG3; -.
DR   MassIVE; Q96NG3; -.
DR   MaxQB; Q96NG3; -.
DR   PeptideAtlas; Q96NG3; -.
DR   PRIDE; Q96NG3; -.
DR   ProteomicsDB; 77508; -. [Q96NG3-1]
DR   ProteomicsDB; 77509; -. [Q96NG3-2]
DR   DNASU; 83538; -.
DR   Ensembl; ENST00000377540; ENSP00000478589; ENSG00000204815. [Q96NG3-1]
DR   GeneID; 83538; -.
DR   KEGG; hsa:83538; -.
DR   UCSC; uc032fin.2; human. [Q96NG3-1]
DR   CTD; 83538; -.
DR   DisGeNET; 83538; -.
DR   GeneCards; TTC25; -.
DR   HGNC; HGNC:25280; TTC25.
DR   HPA; HPA023908; -.
DR   MalaCards; TTC25; -.
DR   MIM; 617092; phenotype.
DR   MIM; 617095; gene.
DR   neXtProt; NX_Q96NG3; -.
DR   OpenTargets; ENSG00000204815; -.
DR   Orphanet; 244; Primary ciliary dyskinesia.
DR   PharmGKB; PA142670677; -.
DR   GeneTree; ENSGT00390000007911; -.
DR   HOGENOM; CLU_023648_2_1_1; -.
DR   InParanoid; Q96NG3; -.
DR   OMA; VVKQWDH; -.
DR   OrthoDB; 1417967at2759; -.
DR   PhylomeDB; Q96NG3; -.
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 testis and 153 other tissues.
DR   ExpressionAtlas; Q96NG3; baseline and differential.
DR   Genevisible; Q96NG3; HS.
DR   GO; GO:0042995; C:cell projection; IEA:UniProtKB-KW.
DR   GO; GO:0005737; C:cytoplasm; IDA:LIFEdb.
DR   GO; GO:0005856; C:cytoskeleton; IEA:UniProtKB-KW.
DR   Gene3D; 1.25.40.10; -; 2.
DR   InterPro; IPR013026; TPR-contain_dom.
DR   InterPro; IPR011990; TPR-like_helical_dom_sf.
DR   InterPro; IPR041617; TPR_MalT.
DR   InterPro; IPR019734; TPR_repeat.
DR   InterPro; IPR040111; TTC25.
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; Polymorphism; Primary ciliary dyskinesia;
KW   Reference proteome; Repeat; TPR repeat.
FT   CHAIN           1..672
FT                   /note="Tetratricopeptide repeat protein 25"
FT                   /id="PRO_0000284507"
FT   REPEAT          13..46
FT                   /note="TPR 1"
FT   REPEAT          48..80
FT                   /note="TPR 2"
FT   REPEAT          81..114
FT                   /note="TPR 3"
FT   REPEAT          275..311
FT                   /note="TPR 4"
FT   REPEAT          320..353
FT                   /note="TPR 5"
FT   REPEAT          360..393
FT                   /note="TPR 6"
FT   REPEAT          397..430
FT                   /note="TPR 7"
FT   REPEAT          437..470
FT                   /note="TPR 8"
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
//
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