TTC27_HUMAN
ID TTC27_HUMAN Reviewed; 843 AA.
AC Q6P3X3; A6NKJ0; Q96SS5; Q9BVF1; Q9NWR4; Q9NXG4;
DT 10-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 151.
DE RecName: Full=Tetratricopeptide repeat protein 27;
DE Short=TPR repeat protein 27;
GN Name=TTC27;
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-525.
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 MRNA].
RC TISSUE=Cervix, and Uterus;
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].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- INTERACTION:
CC Q6P3X3; Q5S007: LRRK2; NbExp=3; IntAct=EBI-1057046, EBI-5323863;
CC -!- SIMILARITY: Belongs to the TTC27 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA91048.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAA91315.1; Type=Erroneous initiation; Evidence={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; AK000279; BAA91048.1; ALT_INIT; mRNA.
DR EMBL; AK000665; BAA91315.1; ALT_INIT; mRNA.
DR EMBL; AK027570; BAB55206.1; -; mRNA.
DR EMBL; AL133246; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC001248; AAH01248.2; -; mRNA.
DR EMBL; BC063791; AAH63791.1; -; mRNA.
DR CCDS; CCDS33176.1; -.
DR RefSeq; NP_001180438.1; NM_001193509.1.
DR RefSeq; NP_060205.3; NM_017735.4.
DR AlphaFoldDB; Q6P3X3; -.
DR SMR; Q6P3X3; -.
DR BioGRID; 120761; 112.
DR IntAct; Q6P3X3; 26.
DR MINT; Q6P3X3; -.
DR STRING; 9606.ENSP00000313953; -.
DR GlyGen; Q6P3X3; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q6P3X3; -.
DR PhosphoSitePlus; Q6P3X3; -.
DR BioMuta; TTC27; -.
DR DMDM; 74758258; -.
DR EPD; Q6P3X3; -.
DR jPOST; Q6P3X3; -.
DR MassIVE; Q6P3X3; -.
DR MaxQB; Q6P3X3; -.
DR PaxDb; Q6P3X3; -.
DR PeptideAtlas; Q6P3X3; -.
DR PRIDE; Q6P3X3; -.
DR ProteomicsDB; 66938; -.
DR Antibodypedia; 29210; 72 antibodies from 18 providers.
DR DNASU; 55622; -.
DR Ensembl; ENST00000317907.9; ENSP00000313953.4; ENSG00000018699.13.
DR GeneID; 55622; -.
DR KEGG; hsa:55622; -.
DR MANE-Select; ENST00000317907.9; ENSP00000313953.4; NM_017735.5; NP_060205.3.
DR UCSC; uc002rom.4; human.
DR CTD; 55622; -.
DR DisGeNET; 55622; -.
DR GeneCards; TTC27; -.
DR HGNC; HGNC:25986; TTC27.
DR HPA; ENSG00000018699; Low tissue specificity.
DR neXtProt; NX_Q6P3X3; -.
DR OpenTargets; ENSG00000018699; -.
DR PharmGKB; PA145007326; -.
DR VEuPathDB; HostDB:ENSG00000018699; -.
DR eggNOG; KOG1128; Eukaryota.
DR GeneTree; ENSGT00500000044929; -.
DR HOGENOM; CLU_004905_2_0_1; -.
DR InParanoid; Q6P3X3; -.
DR OMA; LEMWAEA; -.
DR OrthoDB; 1039489at2759; -.
DR PhylomeDB; Q6P3X3; -.
DR TreeFam; TF105894; -.
DR PathwayCommons; Q6P3X3; -.
DR SignaLink; Q6P3X3; -.
DR BioGRID-ORCS; 55622; 788 hits in 1081 CRISPR screens.
DR ChiTaRS; TTC27; human.
DR GenomeRNAi; 55622; -.
DR Pharos; Q6P3X3; Tdark.
DR PRO; PR:Q6P3X3; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q6P3X3; protein.
DR Bgee; ENSG00000018699; Expressed in calcaneal tendon and 168 other tissues.
DR ExpressionAtlas; Q6P3X3; baseline and differential.
DR Genevisible; Q6P3X3; HS.
DR Gene3D; 1.25.40.10; -; 1.
DR InterPro; IPR011990; TPR-like_helical_dom_sf.
DR InterPro; IPR013105; TPR_2.
DR InterPro; IPR019734; TPR_repeat.
DR InterPro; IPR044244; TTC27/Emw1.
DR PANTHER; PTHR16193; PTHR16193; 1.
DR Pfam; PF07719; TPR_2; 1.
DR SMART; SM00028; TPR; 4.
DR SUPFAM; SSF48452; SSF48452; 1.
DR PROSITE; PS50005; TPR; 4.
DR PROSITE; PS50293; TPR_REGION; 1.
PE 1: Evidence at protein level;
KW Reference proteome; Repeat; TPR repeat.
FT CHAIN 1..843
FT /note="Tetratricopeptide repeat protein 27"
FT /id="PRO_0000295096"
FT REPEAT 453..486
FT /note="TPR 1"
FT REPEAT 492..525
FT /note="TPR 2"
FT REPEAT 527..560
FT /note="TPR 3"
FT REPEAT 561..594
FT /note="TPR 4"
FT REPEAT 596..628
FT /note="TPR 5"
FT REPEAT 629..662
FT /note="TPR 6"
FT VARIANT 476
FT /note="Y -> C (in dbSNP:rs2273660)"
FT /id="VAR_033207"
FT VARIANT 498
FT /note="T -> M (in dbSNP:rs34188947)"
FT /id="VAR_061905"
FT VARIANT 525
FT /note="R -> H (in dbSNP:rs2273664)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_033208"
FT VARIANT 586
FT /note="R -> H (in dbSNP:rs17012268)"
FT /id="VAR_052628"
FT CONFLICT 563
FT /note="V -> A (in Ref. 1; BAA91315)"
FT /evidence="ECO:0000305"
FT CONFLICT 627
FT /note="E -> G (in Ref. 1; BAB55206)"
FT /evidence="ECO:0000305"
FT CONFLICT 756
FT /note="S -> P (in Ref. 1; BAB55206)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 843 AA; 96632 MW; 7008E0BC278718C7 CRC64;
MWTPELAILR GFPTEAERQQ WKQEGVVGSE SGSFLQLLLE GNYEAIFLNS MTQNIFNSTT
TAEEKIDSYL EKQVVTFLDY STDLDTTERQ QLIFLLGVSS LQLFVQSNWT GPPVDLHPQD
FLSSVLFQQF SEVKGLDAFV LSLLTLDGES IYSLTSKPIL LLLARIILVN VRHKLTAIQS
LPWWTLRCVN IHQHLLEERS PLLFTLAENC IDQVMKLQNL FVDDSGRYLA IQFHLECAYV
FLYYYEYRKA KDQLDIAKDI SQLQIDLTGA LGKRTRFQEN YVAQLILDVR REGDVLSNCE
FTPAPTPQEH LTKNLELNDD TILNDIKLAD CEQFQMPDLC AEEIAIILGI CTNFQKNNPV
HTLTEVELLA FTSCLLSQPK FWAIQTSALI LRTKLEKGST RRVERAMRQT QALADQFEDK
TTSVLERLKI FYCCQVPPHW AIQRQLASLL FELGCTSSAL QIFEKLEMWE DVVICYERAG
QHGKAEEILR QELEKKETPS LYCLLGDVLG DHSCYDKAWE LSRYRSARAQ RSKALLHLRN
KEFQECVECF ERSVKINPMQ LGVWFSLGCA YLALEDYQGS AKAFQRCVTL EPDNAEAWNN
LSTSYIRLKQ KVKAFRTLQE ALKCNYEHWQ IWENYILTST DVGEFSEAIK AYHRLLDLRD
KYKDVQVLKI LVRAVIDGMT DRSGDVATGL KGKLQELFGR VTSRVTNDGE IWRLYAHVYG
NGQSEKPDEN EKAFQCLSKA YKCDTQSNCW EKDITSFKEV VQRALGLAHV AIKCSKNKSS
SQEAVQMLSS VRLNLRGLLS KAKQLFTDVA TGEMSRELAD DITAMDTLVT ELQDLSNQFR
NQY
