ID IT70A_HUMAN Reviewed; 665 AA.
AC Q86WT1; A8K8N0; Q8IVP2;
DT 20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT 03-MAR-2009, sequence version 3.
DT 24-JAN-2024, entry version 162.
DE RecName: Full=Intraflagellar transport protein 70A {ECO:0000305};
DE AltName: Full=Tetratricopeptide repeat protein 30A;
DE Short=TPR repeat protein 30A;
GN Name=IFT70A {ECO:0000312|HGNC:HGNC:25853}; Synonyms=TTC30A;
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], AND VARIANT ILE-446.
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 [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT ILE-446.
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS ILE-446 AND ARG-577.
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).
CC -!- FUNCTION: Required for polyglutamylation of axonemal tubulin. Plays a
CC role in anterograde intraflagellar transport (IFT), the process by
CC which cilia precursors are transported from the base of the cilium to
CC the site of their incorporation at the tip. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the TTC30/dfy-1/fleer family. {ECO:0000305}.
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DR EMBL; AK292395; BAF85084.1; -; mRNA.
DR EMBL; AC073834; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471058; EAX11053.1; -; Genomic_DNA.
DR EMBL; BC042848; AAH42848.1; -; mRNA.
DR EMBL; BC048006; AAH48006.2; -; mRNA.
DR CCDS; CCDS2276.1; -.
DR RefSeq; NP_689488.3; NM_152275.3.
DR AlphaFoldDB; Q86WT1; -.
DR SMR; Q86WT1; -.
DR BioGRID; 124908; 36.
DR IntAct; Q86WT1; 27.
DR STRING; 9606.ENSP00000347915; -.
DR iPTMnet; Q86WT1; -.
DR PhosphoSitePlus; Q86WT1; -.
DR BioMuta; TTC30A; -.
DR DMDM; 224471874; -.
DR EPD; Q86WT1; -.
DR jPOST; Q86WT1; -.
DR MassIVE; Q86WT1; -.
DR MaxQB; Q86WT1; -.
DR PaxDb; 9606-ENSP00000347915; -.
DR PeptideAtlas; Q86WT1; -.
DR ProteomicsDB; 70200; -.
DR Pumba; Q86WT1; -.
DR Antibodypedia; 33927; 100 antibodies from 20 providers.
DR DNASU; 92104; -.
DR Ensembl; ENST00000355689.6; ENSP00000347915.4; ENSG00000197557.7.
DR GeneID; 92104; -.
DR KEGG; hsa:92104; -.
DR MANE-Select; ENST00000355689.6; ENSP00000347915.4; NM_152275.4; NP_689488.3.
DR UCSC; uc002ulo.4; human.
DR AGR; HGNC:25853; -.
DR CTD; 92104; -.
DR GeneCards; IFT70A; -.
DR HGNC; HGNC:25853; IFT70A.
DR HPA; ENSG00000197557; Low tissue specificity.
DR neXtProt; NX_Q86WT1; -.
DR OpenTargets; ENSG00000197557; -.
DR PharmGKB; PA145147829; -.
DR VEuPathDB; HostDB:ENSG00000197557; -.
DR eggNOG; KOG4340; Eukaryota.
DR GeneTree; ENSGT00390000010116; -.
DR HOGENOM; CLU_023760_0_0_1; -.
DR InParanoid; Q86WT1; -.
DR OMA; LMNMDRR; -.
DR OrthoDB; 5477075at2759; -.
DR PhylomeDB; Q86WT1; -.
DR TreeFam; TF314592; -.
DR PathwayCommons; Q86WT1; -.
DR Reactome; R-HSA-5620924; Intraflagellar transport.
DR SignaLink; Q86WT1; -.
DR BioGRID-ORCS; 92104; 228 hits in 1151 CRISPR screens.
DR ChiTaRS; TTC30A; human.
DR GenomeRNAi; 92104; -.
DR Pharos; Q86WT1; Tdark.
DR PRO; PR:Q86WT1; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q86WT1; Protein.
DR Bgee; ENSG00000197557; Expressed in male germ line stem cell (sensu Vertebrata) in testis and 122 other cell types or tissues.
DR Genevisible; Q86WT1; HS.
DR GO; GO:0005879; C:axonemal microtubule; IBA:GO_Central.
DR GO; GO:0030992; C:intraciliary transport particle B; IBA:GO_Central.
DR GO; GO:0120170; F:intraciliary transport particle B binding; IBA:GO_Central.
DR GO; GO:0042073; P:intraciliary transport; IBA:GO_Central.
DR Gene3D; 1.25.40.10; Tetratricopeptide repeat domain; 2.
DR InterPro; IPR011990; TPR-like_helical_dom_sf.
DR InterPro; IPR019734; TPR_repeat.
DR InterPro; IPR039941; TT30.
DR PANTHER; PTHR20931:SF3; TETRATRICOPEPTIDE REPEAT PROTEIN 30A; 1.
DR PANTHER; PTHR20931; UNCHARACTERIZED; 1.
DR Pfam; PF13432; TPR_16; 2.
DR SMART; SM00028; TPR; 4.
DR SUPFAM; SSF48452; TPR-like; 3.
DR PROSITE; PS50293; TPR_REGION; 1.
PE 2: Evidence at transcript level;
KW Cell projection; Cilium; Cilium biogenesis/degradation; Coiled coil;
KW Reference proteome; Repeat; TPR repeat.
FT CHAIN 1..665
FT /note="Intraflagellar transport protein 70A"
FT /id="PRO_0000333200"
FT REPEAT 11..44
FT /note="TPR 1"
FT REPEAT 45..78
FT /note="TPR 2"
FT REPEAT 154..187
FT /note="TPR 3"
FT REPEAT 189..221
FT /note="TPR 4"
FT REPEAT 393..424
FT /note="TPR 5"
FT REPEAT 425..457
FT /note="TPR 6"
FT REPEAT 459..492
FT /note="TPR 7"
FT REPEAT 544..577
FT /note="TPR 8"
FT COILED 508..535
FT /evidence="ECO:0000255"
FT VARIANT 446
FT /note="V -> I (in dbSNP:rs28630685)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3"
FT /id="VAR_054660"
FT VARIANT 577
FT /note="K -> R (in dbSNP:rs17854236)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_043123"
FT CONFLICT 279
FT /note="P -> H (in Ref. 1; BAF85084)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 665 AA; 76136 MW; 567FD2C26CC48435 CRC64;
MAGLSGAQIP DGEFTALVYR LIRDARYAEA VQLLGRELQR SPRSRAGLSL LGYCYYRLQE
FALAAECYEQ LGQLHPELEQ YRLYQAQALY KACLYPEATR VAFLLLDNPA YHSRVLRLQA
AIKYSEGDLP GSRSLVEQLL SGEGGEESGG DNETDGQVNL GCLLYKEGQY EAACSKFSAT
LQASGYQPDL SYNLALAYYS SRQYASALKH IAEIIERGIR QHPELGVGMT TEGFDVRSVG
NTLVLHQTAL VEAFNLKAAI EYQLRNYEVA QETLTDMPPR AEEELDPVTL HNQALMNMDA
RPTEGFEKLQ FLLQQNPFPP ETFGNLLLLY CKYEYFDLAA DVLAENAHLT YKFLTPYLYD
FLDALITCQT APEEAFIKLD GLAGMLTEQL RRLTKQVQEA RHNRDDEAIK KAVNEYDETM
EKYIPVLMAQ AKIYWNLENY PMVEKVFRKS VEFCNDHDVW KLNVAHVLFM QENKYKEAIG
FYEPIVKKHY DNILNVSAIV LANLCVSYIM TSQNEEAEEL MRKIEKEEEQ LSYDDPNRKM
YHLCIVNLVI GTLYCAKGNY EFGISRVIKS LEPYNKKLGT DTWYYAKRCF LSLLENMSKH
MIVIHDSVIQ ECVQFLGHCE LYGTNIPAVI EQPLEEERMH VGKNTVTDES RQLKALIYEI
IGWNK
//
