TTC1_HUMAN
ID TTC1_HUMAN Reviewed; 292 AA.
AC Q99614; B2RCT2; D3DQJ8; Q9BVT3;
DT 24-JAN-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-1997, sequence version 1.
DT 03-AUG-2022, entry version 181.
DE RecName: Full=Tetratricopeptide repeat protein 1;
DE Short=TPR repeat protein 1;
GN Name=TTC1; Synonyms=TPR1;
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 [MRNA], AND INTERACTION WITH NF1.
RC TISSUE=Brain, and Liver;
RX PubMed=8836031; DOI=10.1089/dna.1996.15.727;
RA Murthy A.E., Bernards A., Church D., Wasmuth J., Gusella J.F.;
RT "Identification and characterization of two novel tetratricopeptide repeat-
RT containing genes.";
RL DNA Cell Biol. 15:727-735(1996).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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].
RC TISSUE=Placenta;
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 INTERACTION WITH HSP90AA1 AND HSPA8.
RX PubMed=15708368; DOI=10.1016/j.abb.2004.12.020;
RA Liou S.T., Wang C.;
RT "Small glutamine-rich tetratricopeptide repeat-containing protein is
RT composed of three structural units with distinct functions.";
RL Arch. Biochem. Biophys. 435:253-263(2005).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-83 AND SER-90, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-83, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full phosphorylation
RT site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [8]
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).
RN [9]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-83, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T.,
RA Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.;
RT "System-wide temporal characterization of the proteome and phosphoproteome
RT of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
RN [10]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-83, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [11]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
RN [12] {ECO:0000305}
RP VARIANT SER-290.
RX PubMed=29120066; DOI=10.1111/cge.13171;
RA Mejecase C., Mohand-Said S., El Shamieh S., Antonio A., Condroyer C.,
RA Blanchard S., Letexier M., Saraiva J.P., Sahel J.A., Audo I., Zeitz C.;
RT "A novel nonsense variant in REEP6 is involved in a sporadic rod-cone
RT dystrophy case.";
RL Clin. Genet. 93:707-711(2018).
CC -!- SUBUNIT: Interacts with the GAP domain of NF1 (PubMed:8836031).
CC Interacts (via TPR repeats) with HSP90AA1 and HSPA8 (PubMed:15708368).
CC {ECO:0000269|PubMed:15708368, ECO:0000269|PubMed:8836031}.
CC -!- INTERACTION:
CC Q99614; Q9UHQ9: CYB5R1; NbExp=3; IntAct=EBI-742074, EBI-953870;
CC Q99614; P28799: GRN; NbExp=3; IntAct=EBI-742074, EBI-747754;
CC Q99614; P04792: HSPB1; NbExp=3; IntAct=EBI-742074, EBI-352682;
CC Q99614; P42858: HTT; NbExp=9; IntAct=EBI-742074, EBI-466029;
CC Q99614; A0A0S2Z528: PSTPIP1; NbExp=3; IntAct=EBI-742074, EBI-16430249;
CC Q99614; Q9H4P4: RNF41; NbExp=10; IntAct=EBI-742074, EBI-2130266;
CC Q99614; O76024: WFS1; NbExp=3; IntAct=EBI-742074, EBI-720609;
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DR EMBL; U46570; AAB36871.1; -; mRNA.
DR EMBL; AK315262; BAG37679.1; -; mRNA.
DR EMBL; CH471062; EAW61570.1; -; Genomic_DNA.
DR EMBL; CH471062; EAW61571.1; -; Genomic_DNA.
DR EMBL; BC000942; AAH00942.1; -; mRNA.
DR CCDS; CCDS4348.1; -.
DR RefSeq; NP_001269429.1; NM_001282500.1.
DR RefSeq; NP_003305.1; NM_003314.2.
DR AlphaFoldDB; Q99614; -.
DR SMR; Q99614; -.
DR BioGRID; 113116; 175.
DR IntAct; Q99614; 56.
DR STRING; 9606.ENSP00000231238; -.
DR GlyGen; Q99614; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q99614; -.
DR MetOSite; Q99614; -.
DR PhosphoSitePlus; Q99614; -.
DR BioMuta; TTC1; -.
DR DMDM; 12585378; -.
DR EPD; Q99614; -.
DR jPOST; Q99614; -.
DR MassIVE; Q99614; -.
DR MaxQB; Q99614; -.
DR PaxDb; Q99614; -.
DR PeptideAtlas; Q99614; -.
DR PRIDE; Q99614; -.
DR ProteomicsDB; 78358; -.
DR TopDownProteomics; Q99614; -.
DR Antibodypedia; 28512; 179 antibodies from 27 providers.
DR DNASU; 7265; -.
DR Ensembl; ENST00000231238.10; ENSP00000231238.4; ENSG00000113312.12.
DR Ensembl; ENST00000522793.5; ENSP00000429225.1; ENSG00000113312.12.
DR Ensembl; ENST00000682719.1; ENSP00000507891.1; ENSG00000113312.12.
DR GeneID; 7265; -.
DR KEGG; hsa:7265; -.
DR MANE-Select; ENST00000231238.10; ENSP00000231238.4; NM_003314.3; NP_003305.1.
DR UCSC; uc003lxu.5; human.
DR CTD; 7265; -.
DR DisGeNET; 7265; -.
DR GeneCards; TTC1; -.
DR HGNC; HGNC:12391; TTC1.
DR HPA; ENSG00000113312; Low tissue specificity.
DR MIM; 601963; gene.
DR neXtProt; NX_Q99614; -.
DR OpenTargets; ENSG00000113312; -.
DR PharmGKB; PA37057; -.
DR VEuPathDB; HostDB:ENSG00000113312; -.
DR eggNOG; KOG4234; Eukaryota.
DR GeneTree; ENSGT00940000157213; -.
DR HOGENOM; CLU_058463_3_0_1; -.
DR InParanoid; Q99614; -.
DR OMA; YSINFNQ; -.
DR OrthoDB; 1418232at2759; -.
DR PhylomeDB; Q99614; -.
DR TreeFam; TF317515; -.
DR PathwayCommons; Q99614; -.
DR SignaLink; Q99614; -.
DR BioGRID-ORCS; 7265; 706 hits in 1070 CRISPR screens.
DR ChiTaRS; TTC1; human.
DR GeneWiki; TTC1; -.
DR GenomeRNAi; 7265; -.
DR Pharos; Q99614; Tbio.
DR PRO; PR:Q99614; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q99614; protein.
DR Bgee; ENSG00000113312; Expressed in apex of heart and 201 other tissues.
DR ExpressionAtlas; Q99614; baseline and differential.
DR Genevisible; Q99614; HS.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005778; C:peroxisomal membrane; HDA:UniProtKB.
DR GO; GO:0051082; F:unfolded protein binding; NAS:UniProtKB.
DR GO; GO:0006457; P:protein folding; NAS:UniProtKB.
DR Gene3D; 1.25.40.10; -; 1.
DR InterPro; IPR011990; TPR-like_helical_dom_sf.
DR InterPro; IPR001440; TPR_1.
DR InterPro; IPR019734; TPR_repeat.
DR Pfam; PF00515; TPR_1; 1.
DR Pfam; PF13181; TPR_8; 1.
DR SMART; SM00028; TPR; 3.
DR SUPFAM; SSF48452; SSF48452; 1.
DR PROSITE; PS50005; TPR; 3.
DR PROSITE; PS50293; TPR_REGION; 1.
PE 1: Evidence at protein level;
KW Phosphoprotein; Reference proteome; Repeat; TPR repeat.
FT CHAIN 1..292
FT /note="Tetratricopeptide repeat protein 1"
FT /id="PRO_0000106376"
FT REPEAT 116..149
FT /note="TPR 1"
FT REPEAT 155..188
FT /note="TPR 2"
FT REPEAT 189..222
FT /note="TPR 3"
FT REGION 23..125
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 41..125
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 83
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
FT ECO:0007744|PubMed:23186163"
FT MOD_RES 90
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648"
FT VARIANT 290
FT /note="N -> S (in dbSNP:rs553283797)"
FT /evidence="ECO:0000269|PubMed:29120066"
FT /id="VAR_081225"
FT CONFLICT 101
FT /note="E -> K (in Ref. 4; AAH00942)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 292 AA; 33526 MW; D8B460E56CAA8E42 CRC64;
MGEKSENCGV PEDLLNGLKV TDTQEAECAG PPVPDPKNQH SQSKLLRDDE AHLQEDQGEE
ECFHDCSASF EEEPGADKVE NKSNEDVNSS ELDEEYLIEL EKNMSDEEKQ KRREESTRLK
EEGNEQFKKG DYIEAESSYS RALEMCPSCF QKERSILFSN RAAARMKQDK KEMAINDCSK
AIQLNPSYIR AILRRAELYE KTDKLDEALE DYKSILEKDP SIHQAREACM RLPKQIEERN
ERLKEEMLGK LKDLGNLVLR PFGLSTENFQ IKQDSSTGSY SINFVQNPNN NR
