位置:首页 > 蛋白库 > TT30A_HUMAN
TT30A_HUMAN
ID   TT30A_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   03-AUG-2022, entry version 155.
DE   RecName: Full=Tetratricopeptide repeat protein 30A;
DE            Short=TPR repeat protein 30A;
GN   Name=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}.
CC   ---------------------------------------------------------------------------
CC   Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC   Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC   ---------------------------------------------------------------------------
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; Q86WT1; -.
DR   PeptideAtlas; Q86WT1; -.
DR   PRIDE; Q86WT1; -.
DR   ProteomicsDB; 70200; -.
DR   Antibodypedia; 33927; 87 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   CTD; 92104; -.
DR   GeneCards; TTC30A; -.
DR   HGNC; HGNC:25853; TTC30A.
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; MRNHPEL; -.
DR   OrthoDB; 247838at2759; -.
DR   PhylomeDB; Q86WT1; -.
DR   TreeFam; TF314592; -.
DR   PathwayCommons; Q86WT1; -.
DR   Reactome; R-HSA-5620924; Intraflagellar transport.
DR   SignaLink; Q86WT1; -.
DR   BioGRID-ORCS; 92104; 227 hits in 1073 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 bronchial epithelial cell and 121 other 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; -; 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; 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="Tetratricopeptide repeat protein 30A"
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
 
 
维奥蛋白资源库 - 中文蛋白资源 CopyRight © 2010-2024