TTC29_MOUSE
ID TTC29_MOUSE Reviewed; 471 AA.
AC Q80VM3; Q8CF30;
DT 10-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2003, sequence version 1.
DT 03-AUG-2022, entry version 121.
DE RecName: Full=Tetratricopeptide repeat protein 29;
DE Short=TPR repeat protein 29;
GN Name=Ttc29;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC STRAIN=C57BL/6J; TISSUE=Testis;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Olfactory epithelium;
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 [3]
RP FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND DISRUPTION
RP PHENOTYPE.
RX PubMed=31735292; DOI=10.1016/j.ajhg.2019.10.007;
RA Lores P., Dacheux D., Kherraf Z.E., Nsota Mbango J.F., Coutton C.,
RA Stouvenel L., Ialy-Radio C., Amiri-Yekta A., Whitfield M., Schmitt A.,
RA Cazin C., Givelet M., Ferreux L., Fourati Ben Mustapha S., Halouani L.,
RA Marrakchi O., Daneshipour A., El Khouri E., Do Cruzeiro M., Favier M.,
RA Guillonneau F., Chaudhry M., Sakheli Z., Wolf J.P., Patrat C., Gacon G.,
RA Savinov S.N., Hosseini S.H., Robinson D.R., Zouari R., Ziyyat A.,
RA Arnoult C., Dulioust E., Bonhivers M., Ray P.F., Toure A.;
RT "Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein,
RT Result in Asthenozoospermia and Male Infertility.";
RL Am. J. Hum. Genet. 105:1148-1167(2019).
RN [4]
RP FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND DISRUPTION
RP PHENOTYPE.
RX PubMed=31735294; DOI=10.1016/j.ajhg.2019.10.010;
RA Liu C., He X., Liu W., Yang S., Wang L., Li W., Wu H., Tang S., Ni X.,
RA Wang J., Gao Y., Tian S., Zhang L., Cong J., Zhang Z., Tan Q., Zhang J.,
RA Li H., Zhong Y., Lv M., Li J., Jin L., Cao Y., Zhang F.;
RT "Bi-allelic Mutations in TTC29 Cause Male Subfertility with
RT Asthenoteratospermia in Humans and Mice.";
RL Am. J. Hum. Genet. 105:1168-1181(2019).
CC -!- FUNCTION: Axonemal protein which is implicated in axonemal and/or peri-
CC axonemal structures assembly and regulates flagella assembly and
CC beating and therefore sperm motility. {ECO:0000269|PubMed:31735292,
CC ECO:0000269|PubMed:31735294}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, flagellum axoneme
CC {ECO:0000269|PubMed:31735292, ECO:0000269|PubMed:31735294}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q80VM3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q80VM3-2; Sequence=VSP_026639;
CC -!- TISSUE SPECIFICITY: Expressed in spermatozoa (at protein level).
CC {ECO:0000269|PubMed:31735292, ECO:0000269|PubMed:31735294}.
CC -!- DOMAIN: The TPR repeats are required for proper localization into the
CC axoneme and proper function in flagella beating and motility.
CC {ECO:0000250|UniProtKB:Q8NA56}.
CC -!- DISRUPTION PHENOTYPE: Knockout mice generated by CRISPR-Cas9-mediated
CC gene editing are associated with minor morphologic and ultrastructural
CC defects of sperm flagella, which results in profound alterations in
CC sperm flagellar velocity and beating frequency that strongly impair
CC fertilization. {ECO:0000269|PubMed:31735292,
CC ECO:0000269|PubMed:31735294}.
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DR EMBL; AK006580; BAC25147.1; -; mRNA.
DR EMBL; BC048386; AAH48386.1; -; mRNA.
DR CCDS; CCDS22428.1; -. [Q80VM3-1]
DR AlphaFoldDB; Q80VM3; -.
DR SMR; Q80VM3; -.
DR STRING; 10090.ENSMUSP00000041919; -.
DR iPTMnet; Q80VM3; -.
DR PhosphoSitePlus; Q80VM3; -.
DR MaxQB; Q80VM3; -.
DR PaxDb; Q80VM3; -.
DR PRIDE; Q80VM3; -.
DR ProteomicsDB; 297747; -. [Q80VM3-1]
DR Antibodypedia; 49071; 21 antibodies from 10 providers.
DR Ensembl; ENSMUST00000117845; ENSMUSP00000112445; ENSMUSG00000037101. [Q80VM3-2]
DR MGI; MGI:1920551; Ttc29.
DR VEuPathDB; HostDB:ENSMUSG00000037101; -.
DR eggNOG; ENOG502QQ2U; Eukaryota.
DR GeneTree; ENSGT00390000008611; -.
DR HOGENOM; CLU_2984286_0_0_1; -.
DR InParanoid; Q80VM3; -.
DR OMA; VMAAYDS; -.
DR PhylomeDB; Q80VM3; -.
DR PRO; PR:Q80VM3; -.
DR Proteomes; UP000000589; Chromosome 8.
DR RNAct; Q80VM3; protein.
DR Bgee; ENSMUSG00000037101; Expressed in seminiferous tubule of testis and 33 other tissues.
DR ExpressionAtlas; Q80VM3; baseline and differential.
DR GO; GO:0005929; C:cilium; IBA:GO_Central.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0005856; C:cytoskeleton; IEA:UniProtKB-KW.
DR GO; GO:0036126; C:sperm flagellum; IDA:UniProtKB.
DR GO; GO:0003341; P:cilium movement; IMP:UniProtKB.
DR GO; GO:0044782; P:cilium organization; ISO:MGI.
DR Gene3D; 1.25.40.10; -; 2.
DR InterPro; IPR011990; TPR-like_helical_dom_sf.
DR InterPro; IPR019734; TPR_repeat.
DR SMART; SM00028; TPR; 4.
DR SUPFAM; SSF48452; SSF48452; 1.
DR PROSITE; PS50005; TPR; 5.
DR PROSITE; PS50293; TPR_REGION; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Cilium; Cytoplasm; Cytoskeleton;
KW Flagellum; Reference proteome; Repeat; TPR repeat.
FT CHAIN 1..471
FT /note="Tetratricopeptide repeat protein 29"
FT /id="PRO_0000294437"
FT REPEAT 92..131
FT /note="TPR 1"
FT /evidence="ECO:0000250|UniProtKB:Q8NA56"
FT REPEAT 136..173
FT /note="TPR 2"
FT /evidence="ECO:0000250|UniProtKB:Q8NA56"
FT REPEAT 182..215
FT /note="TPR 1"
FT /evidence="ECO:0000255"
FT REPEAT 234..267
FT /note="TPR 2"
FT /evidence="ECO:0000255"
FT REPEAT 274..307
FT /note="TPR 3"
FT /evidence="ECO:0000255"
FT REPEAT 314..347
FT /note="TPR 4"
FT /evidence="ECO:0000255"
FT REPEAT 354..387
FT /note="TPR 5"
FT /evidence="ECO:0000255"
FT REGION 449..471
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 60..471
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_026639"
SQ SEQUENCE 471 AA; 54282 MW; BCA2A925992596AF CRC64;
MATFPPLPMT HTRLAILARQ KLPCSSKKIP RAQLIKEKED IDYYLEQNFK GLSKEEVAAH
RNSYKKSICV DMLRDGFHKS FTELFALMEQ WDKLPEAAKA QSLFWQQRPL EDQPDKLDNF
YHYLTRAEAA ERKGYYEEVY NNLYALACYF DNSEDKWVRN HFYERCFNIA QLIKADGGKK
EAEAESHMGL LFEEEGELLK AAEHYEAFHE LTHGRLWKDG TGQLLNLVAC ESLVRTYRLL
SDRMLENKDY KQAIKILIKA SEIAREGNDR SMEGEASYYL GLAHLASGEY ETALTVLNRY
SEISTSLDDD HGLGRAYEAI AKALQSQGET TEAINYLEKF VTIARNNLQS LDMIRACTML
GDIYNEKGQY SKASEYFQQA FSTAMELMKT ALMDETKVHY GIARAHQMML AMKGYIESAD
SNGLNCLLSW KETRTQIEYD PILGESRRAT EDNIYQLPDA EEETRRSPEN Q
