TTC29_HUMAN
ID TTC29_HUMAN Reviewed; 475 AA.
AC Q8NA56; A4GU95; Q9BXB6;
DT 10-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 10-JUL-2007, sequence version 2.
DT 03-AUG-2022, entry version 142.
DE RecName: Full=Tetratricopeptide repeat protein 29;
DE Short=TPR repeat protein 29;
DE AltName: Full=Protein TBPP2A;
DE AltName: Full=Testis development protein NYD-SP14;
GN Name=TTC29;
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 [MRNA] (ISOFORM 1), AND VARIANTS TYR-140 AND THR-276.
RC TISSUE=Testis;
RA Sha J.H.;
RT "Cloning and identification of a novel gene related development gene NYD-
RT SP14.";
RL Submitted (FEB-2001) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANTS TYR-140 AND THR-276.
RC TISSUE=Mammary cancer;
RA Li J.M., Cheng J., Wang Q.;
RL Submitted (FEB-2007) to the EMBL/GenBank/DDBJ databases.
RN [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [5]
RP INVOLVEMENT IN SPGF42, VARIANT SPGF42 250-TYR--THR-475 DEL, SUBCELLULAR
RP LOCATION, TISSUE SPECIFICITY, FUNCTION, AND DOMAIN.
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 [6]
RP INVOLVEMENT IN SPGF42, VARIANT SPGF42 369-TYR--THR-475 DEL,
RP CHARACTERIZATION OF VARIANT SPGF42 369-TYR--THR-475 DEL, SUBCELLULAR
RP LOCATION, TISSUE SPECIFICITY, AND FUNCTION.
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=Q8NA56-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NA56-2; Sequence=VSP_026638;
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:0000305|PubMed:31735292}.
CC -!- DISEASE: Spermatogenic failure 42 (SPGF42) [MIM:618745]: An autosomal
CC recessive infertility disorder characterized by almost immotile
CC spermatozoa due to multiple morphologic abnormalities of the flagella,
CC including short, absent, coiled, and bent flagella. Some spermatozoa
CC also show abnormalities of the head, acrosome, midpiece, or endpiece.
CC {ECO:0000269|PubMed:31735292, ECO:0000269|PubMed:31735294}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAK29064.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AF345910; AAK29064.1; ALT_FRAME; mRNA.
DR EMBL; EF432564; ABO31099.1; -; mRNA.
DR EMBL; AK093145; BAC04072.1; -; mRNA.
DR EMBL; AC092435; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC097497; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC093887; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS47141.1; -. [Q8NA56-1]
DR RefSeq; NP_001287690.1; NM_001300761.2.
DR RefSeq; NP_001304735.1; NM_001317806.1.
DR RefSeq; NP_114162.2; NM_031956.3. [Q8NA56-1]
DR AlphaFoldDB; Q8NA56; -.
DR SMR; Q8NA56; -.
DR BioGRID; 123805; 20.
DR IntAct; Q8NA56; 9.
DR STRING; 9606.ENSP00000423505; -.
DR GlyGen; Q8NA56; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8NA56; -.
DR PhosphoSitePlus; Q8NA56; -.
DR BioMuta; TTC29; -.
DR DMDM; 152112335; -.
DR MassIVE; Q8NA56; -.
DR PaxDb; Q8NA56; -.
DR PeptideAtlas; Q8NA56; -.
DR PRIDE; Q8NA56; -.
DR ProteomicsDB; 72640; -. [Q8NA56-1]
DR ProteomicsDB; 72641; -. [Q8NA56-2]
DR Antibodypedia; 49071; 21 antibodies from 10 providers.
DR DNASU; 83894; -.
DR Ensembl; ENST00000325106.9; ENSP00000316740.4; ENSG00000137473.19. [Q8NA56-1]
DR GeneID; 83894; -.
DR KEGG; hsa:83894; -.
DR MANE-Select; ENST00000325106.9; ENSP00000316740.4; NM_031956.4; NP_114162.2.
DR UCSC; uc003ikw.5; human. [Q8NA56-1]
DR CTD; 83894; -.
DR DisGeNET; 83894; -.
DR GeneCards; TTC29; -.
DR HGNC; HGNC:29936; TTC29.
DR HPA; ENSG00000137473; Group enriched (fallopian tube, testis).
DR MalaCards; TTC29; -.
DR MIM; 618735; gene.
DR MIM; 618745; phenotype.
DR neXtProt; NX_Q8NA56; -.
DR OpenTargets; ENSG00000137473; -.
DR Orphanet; 276234; Non-syndromic male infertility due to sperm motility disorder.
DR PharmGKB; PA145147799; -.
DR VEuPathDB; HostDB:ENSG00000137473; -.
DR eggNOG; ENOG502QQ2U; Eukaryota.
DR GeneTree; ENSGT00390000008611; -.
DR InParanoid; Q8NA56; -.
DR OMA; VMAAYDS; -.
DR OrthoDB; 732310at2759; -.
DR PhylomeDB; Q8NA56; -.
DR TreeFam; TF328344; -.
DR PathwayCommons; Q8NA56; -.
DR SignaLink; Q8NA56; -.
DR BioGRID-ORCS; 83894; 10 hits in 1034 CRISPR screens.
DR ChiTaRS; TTC29; human.
DR GenomeRNAi; 83894; -.
DR Pharos; Q8NA56; Tdark.
DR PRO; PR:Q8NA56; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q8NA56; protein.
DR Bgee; ENSG00000137473; Expressed in sperm and 84 other tissues.
DR ExpressionAtlas; Q8NA56; baseline and differential.
DR Genevisible; Q8NA56; HS.
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; IDA:UniProtKB.
DR GO; GO:0044782; P:cilium organization; IDA:UniProtKB.
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; PS50293; TPR_REGION; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Cilium; Cytoplasm; Cytoskeleton;
KW Disease variant; Flagellum; Reference proteome; Repeat; TPR repeat.
FT CHAIN 1..475
FT /note="Tetratricopeptide repeat protein 29"
FT /id="PRO_0000294435"
FT REPEAT 92..131
FT /note="TPR 1"
FT /evidence="ECO:0000305|PubMed:31735292"
FT REPEAT 136..173
FT /note="TPR 2"
FT /evidence="ECO:0000305|PubMed:31735292"
FT REPEAT 182..215
FT /note="TPR 3"
FT /evidence="ECO:0000255"
FT REPEAT 234..267
FT /note="TPR 4"
FT /evidence="ECO:0000255"
FT REPEAT 274..307
FT /note="TPR 5"
FT /evidence="ECO:0000255"
FT REPEAT 314..347
FT /note="TPR 6"
FT /evidence="ECO:0000255"
FT REPEAT 354..387
FT /note="TPR 7"
FT /evidence="ECO:0000255"
FT REGION 437..475
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1
FT /note="M -> MIPMFTVTLEDSGTLWKSLHSSSESE (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_026638"
FT VARIANT 94
FT /note="L -> P (in dbSNP:rs35123039)"
FT /id="VAR_033179"
FT VARIANT 140
FT /note="H -> Y (in dbSNP:rs17610219)"
FT /evidence="ECO:0000269|Ref.1, ECO:0000269|Ref.2"
FT /id="VAR_033180"
FT VARIANT 250..475
FT /note="Missing (in SPGF42)"
FT /evidence="ECO:0000269|PubMed:31735292"
FT /id="VAR_083646"
FT VARIANT 276
FT /note="A -> T (in dbSNP:rs10013280)"
FT /evidence="ECO:0000269|Ref.1, ECO:0000269|Ref.2"
FT /id="VAR_033181"
FT VARIANT 369..475
FT /note="Missing (in SPGF42; loss of protein expression)"
FT /evidence="ECO:0000269|PubMed:31735294"
FT /id="VAR_083647"
FT CONFLICT 239
FT /note="L -> F (in Ref. 3; BAC04072)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 475 AA; 55082 MW; 09BF33E42330C53A CRC64;
MTTLPPLPMT RPKLTALARQ KLPCSSRKIP RSQLIKEKDD IDHYLEVNFK GLSKEEVAAY
RNSYKKNICV DMLRDGYHKS FTELFALMER WDALREAARV RSLFWLQKPL EEQPDKLDYL
YHYLTRAEDA ERKESFEDVH NNLYALACYF NNSEDKWVRN HFYERCFKIA QLIKIDCGKK
EAEAHMHMGL LYEEDGQLLE AAEHYEAFHQ LTQGRIWKDE TGRSLNLLAC ESLLRTYRLL
SDKMLENKEY KQAIKILIKA SEIAKEGSDK KMEAEASYYL GLAHLAAEEY ETALTVLDTY
CKISTDLDDD LSLGRGYEAI AKVLQSQGEM TEAIKYLKKF VKIARNNFQS LDLVRASTML
GDIYNEKGYY NKASECFQQA FDTTVELMSM PLMDETKVHY GIAKAHQMML TVNNYIESAD
LTSLNYLLSW KESRGNIEPD PVTEEFRGST VEAVSQNSER LEELSRFPGD QKNET
