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 27-MAR-2024, entry version 160. 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; 125. DR IntAct; Q6P3X3; 29. 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; 9606-ENSP00000313953; -. DR PeptideAtlas; Q6P3X3; -. DR ProteomicsDB; 66938; -. DR Pumba; Q6P3X3; -. DR Antibodypedia; 29210; 83 antibodies from 20 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 AGR; HGNC:25986; -. 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; NNRYARA; -. DR OrthoDB; 23605at2759; -. DR PhylomeDB; Q6P3X3; -. DR TreeFam; TF105894; -. DR PathwayCommons; Q6P3X3; -. DR SignaLink; Q6P3X3; -. DR BioGRID-ORCS; 55622; 825 hits in 1160 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 primordial germ cell in gonad and 169 other cell types or tissues. DR ExpressionAtlas; Q6P3X3; baseline and differential. DR Gene3D; 1.25.40.10; Tetratricopeptide repeat domain; 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:SF0; TETRATRICOPEPTIDE REPEAT PROTEIN 27; 1. DR PANTHER; PTHR16193; UNCHARACTERIZED; 1. DR Pfam; PF07719; TPR_2; 1. DR SMART; SM00028; TPR; 4. DR SUPFAM; SSF48452; TPR-like; 1. DR PROSITE; PS50005; TPR; 4. DR PROSITE; PS50293; TPR_REGION; 1. DR Genevisible; Q6P3X3; HS. 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 //