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TT21A_MOUSE
ID   TT21A_MOUSE             Reviewed;        1314 AA.
AC   Q8C0S4; Q0HA37; Q3V0A2; Q9D5Q9;
DT   26-JUN-2007, integrated into UniProtKB/Swiss-Prot.
DT   26-JUN-2007, sequence version 2.
DT   03-AUG-2022, entry version 137.
DE   RecName: Full=Tetratricopeptide repeat protein 21A;
DE            Short=TPR repeat protein 21A;
DE   AltName: Full=Tetratricopeptide repeat-containing hedgehog modulator 2;
GN   Name=Ttc21a; Synonyms=Thm2;
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 [MRNA] (ISOFORM 1).
RC   STRAIN=A/J;
RA   Tran P.V., Herron B.J., Scherz P.J., Qiu H., Turbe-Doan A., Parker K.,
RA   Beier D.R.;
RT   "Thm1 is a novel negative regulator of mouse Sonic hedgehog signaling.";
RL   Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 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   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Testis;
RX   PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA   Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA   Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT   "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL   Cell 143:1174-1189(2010).
RN   [5]
RP   FUNCTION, AND DISRUPTION PHENOTYPE.
RX   PubMed=30929735; DOI=10.1016/j.ajhg.2019.02.020;
RA   Liu W., He X., Yang S., Zouari R., Wang J., Wu H., Kherraf Z.E., Liu C.,
RA   Coutton C., Zhao R., Tang D., Tang S., Lv M., Fang Y., Li W., Li H.,
RA   Zhao J., Wang X., Zhao S., Zhang J., Arnoult C., Jin L., Zhang Z.,
RA   Ray P.F., Cao Y., Zhang F.;
RT   "Bi-allelic mutations in TTC21A induce asthenoteratospermia in humans and
RT   mice.";
RL   Am. J. Hum. Genet. 104:738-748(2019).
CC   -!- FUNCTION: Intraflagellar transport (IFT)-associated protein required
CC       for spermatogenesis (PubMed:30929735). Required for sperm flagellar
CC       formation and intraflagellar transport (PubMed:30929735).
CC       {ECO:0000269|PubMed:30929735}.
CC   -!- SUBUNIT: Interacts with IFT20. Interacts with IFT52. Interacts with
CC       IFT140. {ECO:0000250|UniProtKB:Q8NDW8}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q8C0S4-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q8C0S4-2; Sequence=VSP_026304, VSP_026305;
CC   -!- DISRUPTION PHENOTYPE: Male mice display strongly reduced fertility
CC       (PubMed:30929735). Spermatozoa show significantly reduced motility and
CC       morphologic abnormalities are observed, such as primarily tailless
CC       spermatozoa with an abnormal head-tail junction, as well as short and
CC       coiled flagella (PubMed:30929735). Structural abnormalities of the
CC       connecting piece are observed during spermiogenesis and multiple
CC       structural defects of the flagella, with a greatly increased percentage
CC       of flagella exhibiting abnormal principal pieces and end pieces
CC       (PubMed:30929735). Axonemal structural abnormalities, such as abnormal
CC       bulges, extra peripheral microtubule doublets, lack of central-pair
CC       microtubules, absent dynein arms, and abnormal arrangement of the 9
CC       peripheral microtubule doubles, are also frequently observed
CC       (PubMed:30929735). {ECO:0000269|PubMed:30929735}.
CC   -!- SIMILARITY: Belongs to the TTC21 family. {ECO:0000305}.
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DR   EMBL; DQ011665; AAY78492.1; -; mRNA.
DR   EMBL; AK015017; BAB29674.1; -; mRNA.
DR   EMBL; AK029952; BAC26695.1; -; mRNA.
DR   EMBL; AK133304; BAE21602.1; -; mRNA.
DR   EMBL; BC133699; AAI33700.1; -; mRNA.
DR   CCDS; CCDS40805.1; -. [Q8C0S4-1]
DR   RefSeq; NP_083011.2; NM_028735.3. [Q8C0S4-1]
DR   AlphaFoldDB; Q8C0S4; -.
DR   BioGRID; 216453; 2.
DR   STRING; 10090.ENSMUSP00000035100; -.
DR   iPTMnet; Q8C0S4; -.
DR   PhosphoSitePlus; Q8C0S4; -.
DR   MaxQB; Q8C0S4; -.
DR   PaxDb; Q8C0S4; -.
DR   PRIDE; Q8C0S4; -.
DR   ProteomicsDB; 297731; -. [Q8C0S4-1]
DR   ProteomicsDB; 297732; -. [Q8C0S4-2]
DR   Antibodypedia; 50732; 7 antibodies from 6 providers.
DR   DNASU; 74052; -.
DR   Ensembl; ENSMUST00000035100; ENSMUSP00000035100; ENSMUSG00000032514. [Q8C0S4-1]
DR   GeneID; 74052; -.
DR   KEGG; mmu:74052; -.
DR   UCSC; uc009sbs.1; mouse. [Q8C0S4-2]
DR   UCSC; uc009sbt.1; mouse. [Q8C0S4-1]
DR   CTD; 199223; -.
DR   MGI; MGI:1921302; Ttc21a.
DR   VEuPathDB; HostDB:ENSMUSG00000032514; -.
DR   eggNOG; ENOG502QQAB; Eukaryota.
DR   GeneTree; ENSGT00390000005979; -.
DR   HOGENOM; CLU_006149_0_0_1; -.
DR   InParanoid; Q8C0S4; -.
DR   OMA; QCPCLAG; -.
DR   OrthoDB; 45918at2759; -.
DR   PhylomeDB; Q8C0S4; -.
DR   TreeFam; TF314664; -.
DR   BioGRID-ORCS; 74052; 2 hits in 71 CRISPR screens.
DR   PRO; PR:Q8C0S4; -.
DR   Proteomes; UP000000589; Chromosome 9.
DR   RNAct; Q8C0S4; protein.
DR   Bgee; ENSMUSG00000032514; Expressed in otolith organ and 42 other tissues.
DR   Genevisible; Q8C0S4; MM.
DR   GO; GO:0005929; C:cilium; IEA:GOC.
DR   GO; GO:0030991; C:intraciliary transport particle A; IBA:GO_Central.
DR   GO; GO:0030317; P:flagellated sperm motility; IMP:UniProtKB.
DR   GO; GO:0035721; P:intraciliary retrograde transport; IBA:GO_Central.
DR   GO; GO:0061512; P:protein localization to cilium; IBA:GO_Central.
DR   GO; GO:0007286; P:spermatid development; IMP:UniProtKB.
DR   Gene3D; 1.25.40.10; -; 6.
DR   InterPro; IPR011990; TPR-like_helical_dom_sf.
DR   InterPro; IPR019734; TPR_repeat.
DR   InterPro; IPR040364; TTC21A/TTC21B.
DR   PANTHER; PTHR14699; PTHR14699; 1.
DR   Pfam; PF13176; TPR_7; 1.
DR   Pfam; PF13181; TPR_8; 1.
DR   SMART; SM00028; TPR; 14.
DR   SUPFAM; SSF48452; SSF48452; 4.
DR   PROSITE; PS50005; TPR; 11.
DR   PROSITE; PS50293; TPR_REGION; 4.
PE   1: Evidence at protein level;
KW   Alternative splicing; Differentiation; Reference proteome; Repeat;
KW   Spermatogenesis; TPR repeat.
FT   CHAIN           1..1314
FT                   /note="Tetratricopeptide repeat protein 21A"
FT                   /id="PRO_0000291916"
FT   REPEAT          110..143
FT                   /note="TPR 1"
FT   REPEAT          214..247
FT                   /note="TPR 2"
FT   REPEAT          326..359
FT                   /note="TPR 3"
FT   REPEAT          494..527
FT                   /note="TPR 4"
FT   REPEAT          529..561
FT                   /note="TPR 5"
FT   REPEAT          565..598
FT                   /note="TPR 6"
FT   REPEAT          616..649
FT                   /note="TPR 7"
FT   REPEAT          721..754
FT                   /note="TPR 8"
FT   REPEAT          755..788
FT                   /note="TPR 9"
FT   REPEAT          790..821
FT                   /note="TPR 10"
FT   REPEAT          831..863
FT                   /note="TPR 11"
FT   REPEAT          883..916
FT                   /note="TPR 12"
FT   REPEAT          918..950
FT                   /note="TPR 13"
FT   REPEAT          951..984
FT                   /note="TPR 14"
FT   REPEAT          986..1018
FT                   /note="TPR 15"
FT   REPEAT          1022..1055
FT                   /note="TPR 16"
FT   REPEAT          1195..1228
FT                   /note="TPR 17"
FT   REPEAT          1230..1262
FT                   /note="TPR 18"
FT   REPEAT          1264..1297
FT                   /note="TPR 19"
FT   VAR_SEQ         1227..1233
FT                   /note="SCCRAYE -> AKLTSLG (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:16141072"
FT                   /id="VSP_026304"
FT   VAR_SEQ         1234..1314
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:16141072"
FT                   /id="VSP_026305"
FT   CONFLICT        16
FT                   /note="S -> N (in Ref. 2; BAB29674)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        208
FT                   /note="L -> M (in Ref. 2; BAC26695)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        650
FT                   /note="P -> L (in Ref. 1; AAY78492 and 3; AAI33700)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        1037
FT                   /note="Q -> K (in Ref. 2; BAE21602)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   1314 AA;  148617 MW;  A1790B1DA679883B CRC64;
     MSSDDSSLMA SIIYYSQEKY FHHVLQAANV GLERYSSDPA LQFFRAYGIL GEDHIHDAIS
     ELEGIQSHPD TSLCAVIALL SAHKSCDTID IEAVQELESS LKEIRRSASS TALYYASLFL
     WFMGHHDKAR EYVDHMLKVS SGSKEGYVLK GWVDLTSSKP HVVKKSIKYL EQGTQDTKDV
     LGLMGKATYF MTQQNFSGAL EVANQVTLAC SNFLPALVLK MKLFLARQDW DQTIETGQRI
     LEKDENNIDA WQILAVHELV KEGNTDRAAD RVRNLIKALE TGEPHNPNLH LKKILVISRL
     CGRHQVVHRL VSGFLERIFM ATPSCALVAT ELGYLFILHQ QVKEACLWYK EAMKLEENRL
     AALAGSIWCQ ILQGQLEEAA HQLEFLKEVQ QSLGKSELLV FLQALVAAKK QRLEQEATAL
     LKEAVEVHFS SMQGLALSPE YFEKLDPLFL VCIAKEYLHF CPKQPRSPGQ LVSPLLKQVA
     MILSPVVKVA PAMMEPLYVT AQVKFLSGEL ENAQSTLQRC LELDPTFVDA HLLMSQIYLA
     QGNFAMCSHC LELGVSHNFQ VRDHPLYHFI KARALNKTGD YAEAIKTLKM IIKVPTSKAE
     EGRKSQSPSV RPSERASILL ELVEALRLNG ELHEATKIMQ DAINEFSGTP EEMRITVANV
     DLALSKGNVD LALNMLRGIT PKQPCYTEAK EKMASIYLHT RKDVRLYIGC YVELCEHLPG
     PHSSLLLGDA FMNIQEPEKA LEVYDEAYRK NPHDASLVSR IGQAYVKTHQ YAKAINYYEA
     AQKISGQDFL CCELAELLLK LKKYHKAEKV LKQALERDSG VKDIPSMINE VKCLLLLAKV
     YKSHKKEEVM ETLNLALDLQ SRILKRVPLE QSEMIPFQNQ LAASICIQIG EHHLAEKDYD
     SALKSYKDAL AYSPTDSKVV LELAHLYLLL GQLDLCEQRC APLLEMEQTH ERAAVMLADL
     MFRRQNYETA INLYHQVLEK APDNFLVLNK LVDLLRRSGK LEEAPAFFEL AKKVSSRVPL
     EPGFNYCQGI YFWHIGQPNE ALRFLNKARK DSTWGQLATC YMVQICLNPD NEIVGGEAFE
     SLVGDSNSAS RKESQQHGVR TAEKLLREFY PHSESGQTQL RLLQNLCLLA TREKANVEVA
     LGAFIEMAQA EKDSIPALLA MAQAYILLKQ VPKARTQLKR LAKVPWTVDE AEDLEKSWLL
     LADIYCQGGK FDLALELLRR CLQYNKSCCR AYEYMGFIME KEQSYKDAAT NYELAWKYSH
     QANPAIGFKL AFNYLKDKKF VDAIEVCHSV LTEHPKYPKI REEILEKAQG SLRP
 
 
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