TT30B_HUMAN
ID TT30B_HUMAN Reviewed; 665 AA.
AC Q8N4P2; Q63HQ1; Q96NE6;
DT 10-JUN-2008, integrated into UniProtKB/Swiss-Prot.
DT 30-NOV-2010, sequence version 2.
DT 03-AUG-2022, entry version 158.
DE RecName: Full=Tetratricopeptide repeat protein 30B;
DE Short=TPR repeat protein 30B;
GN Name=TTC30B;
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 HIS-117.
RC TISSUE=Lung;
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 HIS-117.
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 (DEC-2006) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT HIS-117.
RC TISSUE=Brain;
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 146-665.
RC TISSUE=Heart;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
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 -!- SUBUNIT: Interacts with the IFT B complex components IFT27, IFT46,
CC IFT74, IFT52, IFT57, IFT80, IFT81 and IFT88 (By similarity). Interacts
CC with KIF17 (By similarity). {ECO:0000250|UniProtKB:Q9CY00}.
CC -!- INTERACTION:
CC Q8N4P2; Q9BPU9: B9D2; NbExp=2; IntAct=EBI-6958994, EBI-6958971;
CC Q8N4P2; Q62559: Ift52; Xeno; NbExp=2; IntAct=EBI-6958994, EBI-6959048;
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; AK055552; BAB70953.1; -; mRNA.
DR EMBL; AC073834; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471058; EAX11054.1; -; mRNA.
DR EMBL; BC033795; AAH33795.1; -; mRNA.
DR EMBL; BX647620; CAH56200.1; -; mRNA.
DR CCDS; CCDS42784.1; -.
DR RefSeq; NP_689730.2; NM_152517.2.
DR AlphaFoldDB; Q8N4P2; -.
DR SMR; Q8N4P2; -.
DR BioGRID; 127321; 57.
DR ComplexPortal; CPX-5022; IFT-B complex.
DR CORUM; Q8N4P2; -.
DR IntAct; Q8N4P2; 46.
DR MINT; Q8N4P2; -.
DR STRING; 9606.ENSP00000386181; -.
DR iPTMnet; Q8N4P2; -.
DR PhosphoSitePlus; Q8N4P2; -.
DR BioMuta; TTC30B; -.
DR DMDM; 313104039; -.
DR EPD; Q8N4P2; -.
DR jPOST; Q8N4P2; -.
DR MassIVE; Q8N4P2; -.
DR MaxQB; Q8N4P2; -.
DR PaxDb; Q8N4P2; -.
DR PeptideAtlas; Q8N4P2; -.
DR PRIDE; Q8N4P2; -.
DR ProteomicsDB; 71952; -.
DR Antibodypedia; 33925; 104 antibodies from 18 providers.
DR DNASU; 150737; -.
DR Ensembl; ENST00000408939.4; ENSP00000386181.2; ENSG00000196659.10.
DR GeneID; 150737; -.
DR KEGG; hsa:150737; -.
DR MANE-Select; ENST00000408939.4; ENSP00000386181.2; NM_152517.3; NP_689730.2.
DR UCSC; uc002uln.4; human.
DR CTD; 150737; -.
DR DisGeNET; 150737; -.
DR GeneCards; TTC30B; -.
DR HGNC; HGNC:26425; TTC30B.
DR HPA; ENSG00000196659; Low tissue specificity.
DR neXtProt; NX_Q8N4P2; -.
DR OpenTargets; ENSG00000196659; -.
DR PharmGKB; PA145147835; -.
DR VEuPathDB; HostDB:ENSG00000196659; -.
DR eggNOG; KOG4340; Eukaryota.
DR GeneTree; ENSGT00390000010116; -.
DR HOGENOM; CLU_023760_0_0_1; -.
DR InParanoid; Q8N4P2; -.
DR OMA; HMILIRD; -.
DR OrthoDB; 247838at2759; -.
DR PhylomeDB; Q8N4P2; -.
DR TreeFam; TF314592; -.
DR PathwayCommons; Q8N4P2; -.
DR Reactome; R-HSA-5620924; Intraflagellar transport.
DR SignaLink; Q8N4P2; -.
DR BioGRID-ORCS; 150737; 14 hits in 1071 CRISPR screens.
DR GenomeRNAi; 150737; -.
DR Pharos; Q8N4P2; Tbio.
DR PRO; PR:Q8N4P2; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q8N4P2; protein.
DR Bgee; ENSG00000196659; Expressed in bronchial epithelial cell and 136 other tissues.
DR Genevisible; Q8N4P2; HS.
DR GO; GO:0005879; C:axonemal microtubule; IBA:GO_Central.
DR GO; GO:0097542; C:ciliary tip; TAS:Reactome.
DR GO; GO:0005929; C:cilium; TAS:Reactome.
DR GO; GO:0030992; C:intraciliary transport particle B; IPI:ComplexPortal.
DR GO; GO:0120170; F:intraciliary transport particle B binding; IBA:GO_Central.
DR GO; GO:0060271; P:cilium assembly; IC:ComplexPortal.
DR GO; GO:0035720; P:intraciliary anterograde transport; IC:ComplexPortal.
DR GO; GO:0042073; P:intraciliary transport; IBA:GO_Central.
DR Gene3D; 1.25.40.10; -; 2.
DR InterPro; IPR011990; TPR-like_helical_dom_sf.
DR InterPro; IPR019734; TPR_repeat.
DR InterPro; IPR039941; TT30.
DR PANTHER; PTHR20931; PTHR20931; 1.
DR SMART; SM00028; TPR; 4.
DR SUPFAM; SSF48452; SSF48452; 3.
DR PROSITE; PS50293; TPR_REGION; 2.
PE 1: Evidence at protein level;
KW Cell projection; Cilium; Cilium biogenesis/degradation; Coiled coil;
KW Reference proteome; Repeat; TPR repeat.
FT CHAIN 1..665
FT /note="Tetratricopeptide repeat protein 30B"
FT /id="PRO_0000333201"
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 REGION 130..154
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 508..535
FT /evidence="ECO:0000255"
FT VARIANT 117
FT /note="R -> H (in dbSNP:rs11694988)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3"
FT /id="VAR_043124"
FT VARIANT 446
FT /note="I -> V (in dbSNP:rs2695315)"
FT /id="VAR_043125"
FT CONFLICT 94
FT /note="L -> F (in Ref. 1; BAB70953)"
FT /evidence="ECO:0000305"
FT CONFLICT 165..191
FT /note="Missing (in Ref. 1; BAB70953)"
FT /evidence="ECO:0000305"
FT CONFLICT 366
FT /note="I -> T (in Ref. 1; BAB70953)"
FT /evidence="ECO:0000305"
FT CONFLICT 459
FT /note="V -> L (in Ref. 5; CAH56200)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 665 AA; 76099 MW; EE0C5DE820CFB84D CRC64;
MAGLSGAQIP DGEFTAVVYR LIRNARYAEA VQLLGGELQR SPRSRAGLSL LGYCYYRLQE
FALAAECYEQ LGQLHPELEQ YRLYQAQALY KACLYAEATR VAFLLLDNPA YHSRVLRLQA
AIKYSEGDLP GSRSLVEQLP SREGGEESGG ENETDGQINL GCLLYKEGQY EAACSKFFAA
LQASGYQPDL SYNLALAYYS SRQYASALKH IAEIIERGIR QHPELGVGMT TEGIDVRSVG
NTLVLHQTAL VEAFNLKAAI EYQLRNYEAA QEALTDMPPR AEEELDPVTL HNQALMNMDA
RPTEGFEKLQ FLLQQNPFPP ETFGNLLLLY CKYEYFDLAA DVLAENAHLI YKFLTPYLYD
FLDAVITCQT APEEAFIKLD GLAGMLTEVL RKLTIQVQEA RHNRDDEAIK KAVNEYDETM
EKYIPVLMAQ AKIYWNLENY PMVEKIFRKS VEFCNDHDVW KLNVAHVLFM QENKYKEAIG
FYEPIVKKHY DNILNVSAIV LANLCVSYIM TSQNEEAEEL MRKIEKEEEQ LSYDDPDKKM
YHLCIVNLVI GTLYCAKGNY DFGISRVIKS LEPYNKKLGT DTWYYAKRCF LSLLENMSKH
TIMLRDSVIQ ECVQFLEHCE LHGRNIPAVI EQPLEEERMH VGKNTVTYES RQLKALIYEI
IGWNI
