ID TT39C_HUMAN Reviewed; 583 AA. AC Q8N584; B7WP63; J3QRR1; Q0VAJ2; Q8N284; DT 06-FEB-2007, integrated into UniProtKB/Swiss-Prot. DT 06-FEB-2007, sequence version 2. DT 27-MAR-2024, entry version 150. DE RecName: Full=Tetratricopeptide repeat protein 39C; DE Short=TPR repeat protein 39C; GN Name=TTC39C; Synonyms=C18orf17; 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] (ISOFORM 2). RC TISSUE=Corpus callosum; 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=16177791; DOI=10.1038/nature03983; RA Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D., RA Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., RA Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J., RA Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L., RA Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A., RA Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C., RA Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K., RA Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R., RA Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.; RT "DNA sequence and analysis of human chromosome 18."; RL Nature 437:551-555(2005). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), AND NUCLEOTIDE RP SEQUENCE [LARGE SCALE MRNA] OF 38-583 (ISOFORM 1). RC TISSUE=Ovarian adenocarcinoma, and 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 -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=3; CC Name=1; CC IsoId=Q8N584-1; Sequence=Displayed; CC Name=2; CC IsoId=Q8N584-2; Sequence=VSP_022720; CC Name=3; CC IsoId=Q8N584-3; Sequence=VSP_046039, VSP_046040; CC -!- SIMILARITY: Belongs to the TTC39 family. {ECO:0000305}. CC -!- SEQUENCE CAUTION: CC Sequence=AAH32684.1; 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; AK091080; BAC03578.1; -; mRNA. DR EMBL; AC010754; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC090772; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; BC016833; -; NOT_ANNOTATED_CDS; mRNA. DR EMBL; BC032684; AAH32684.1; ALT_INIT; mRNA. DR EMBL; BC121034; AAI21035.1; -; mRNA. DR EMBL; BC121035; AAI21036.1; -; mRNA. DR CCDS; CCDS32804.1; -. [Q8N584-2] DR CCDS; CCDS45839.1; -. [Q8N584-1] DR CCDS; CCDS58616.1; -. [Q8N584-3] DR RefSeq; NP_001129465.1; NM_001135993.1. [Q8N584-1] DR RefSeq; NP_001230354.1; NM_001243425.1. [Q8N584-3] DR RefSeq; NP_001278959.1; NM_001292030.1. DR RefSeq; NP_694943.2; NM_153211.3. [Q8N584-2] DR RefSeq; XP_005258255.1; XM_005258198.4. DR RefSeq; XP_016881039.1; XM_017025550.1. DR AlphaFoldDB; Q8N584; -. DR SMR; Q8N584; -. DR BioGRID; 125929; 12. DR IntAct; Q8N584; 2. DR STRING; 9606.ENSP00000323645; -. DR iPTMnet; Q8N584; -. DR PhosphoSitePlus; Q8N584; -. DR BioMuta; TTC39C; -. DR DMDM; 125863935; -. DR EPD; Q8N584; -. DR jPOST; Q8N584; -. DR MassIVE; Q8N584; -. DR MaxQB; Q8N584; -. DR PaxDb; 9606-ENSP00000323645; -. DR PeptideAtlas; Q8N584; -. DR ProteomicsDB; 72019; -. [Q8N584-1] DR ProteomicsDB; 72020; -. [Q8N584-2] DR Pumba; Q8N584; -. DR Antibodypedia; 70687; 21 antibodies from 10 providers. DR DNASU; 125488; -. DR Ensembl; ENST00000304621.10; ENSP00000306598.6; ENSG00000168234.13. [Q8N584-2] DR Ensembl; ENST00000317571.8; ENSP00000323645.3; ENSG00000168234.13. [Q8N584-1] DR Ensembl; ENST00000584250.1; ENSP00000464344.1; ENSG00000168234.13. [Q8N584-3] DR GeneID; 125488; -. DR KEGG; hsa:125488; -. DR MANE-Select; ENST00000317571.8; ENSP00000323645.3; NM_001135993.2; NP_001129465.1. DR UCSC; uc002kuu.4; human. [Q8N584-1] DR AGR; HGNC:26595; -. DR CTD; 125488; -. DR DisGeNET; 125488; -. DR GeneCards; TTC39C; -. DR HGNC; HGNC:26595; TTC39C. DR HPA; ENSG00000168234; Tissue enhanced (liver, retina). DR neXtProt; NX_Q8N584; -. DR OpenTargets; ENSG00000168234; -. DR PharmGKB; PA162407262; -. DR VEuPathDB; HostDB:ENSG00000168234; -. DR eggNOG; KOG3783; Eukaryota. DR GeneTree; ENSGT00950000182917; -. DR HOGENOM; CLU_010086_4_1_1; -. DR InParanoid; Q8N584; -. DR OMA; YNIAMKQ; -. DR OrthoDB; 1350106at2759; -. DR PhylomeDB; Q8N584; -. DR TreeFam; TF313761; -. DR PathwayCommons; Q8N584; -. DR SignaLink; Q8N584; -. DR BioGRID-ORCS; 125488; 13 hits in 1138 CRISPR screens. DR ChiTaRS; TTC39C; human. DR GenomeRNAi; 125488; -. DR Pharos; Q8N584; Tdark. DR PRO; PR:Q8N584; -. DR Proteomes; UP000005640; Chromosome 18. DR RNAct; Q8N584; Protein. DR Bgee; ENSG00000168234; Expressed in right lobe of liver and 165 other cell types or tissues. DR ExpressionAtlas; Q8N584; baseline and differential. DR GO; GO:0060271; P:cilium assembly; IBA:GO_Central. DR GO; GO:0032474; P:otolith morphogenesis; IBA:GO_Central. DR Gene3D; 1.25.40.10; Tetratricopeptide repeat domain; 1. DR InterPro; IPR019412; Iml2/TPR_39. DR InterPro; IPR011990; TPR-like_helical_dom_sf. DR PANTHER; PTHR31859; TETRATRICOPEPTIDE REPEAT PROTEIN 39 FAMILY MEMBER; 1. DR PANTHER; PTHR31859:SF1; TETRATRICOPEPTIDE REPEAT PROTEIN 39C; 1. DR Pfam; PF10300; Iml2-TPR_39; 1. DR SUPFAM; SSF48452; TPR-like; 1. DR Genevisible; Q8N584; HS. PE 2: Evidence at transcript level; KW Alternative splicing; Reference proteome; Repeat; TPR repeat. FT CHAIN 1..583 FT /note="Tetratricopeptide repeat protein 39C" FT /id="PRO_0000274352" FT REPEAT 315..348 FT /note="TPR 1" FT REPEAT 353..386 FT /note="TPR 2" FT REPEAT 485..518 FT /note="TPR 3" FT REGION 1..22 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 1..18 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT VAR_SEQ 1..61 FT /note="Missing (in isoform 2)" FT /evidence="ECO:0000303|PubMed:14702039, FT ECO:0000303|PubMed:15489334" FT /id="VSP_022720" FT VAR_SEQ 57..76 FT /note="NHSPLMSFGASFVSFLNAMM -> KSFLTSEKTSALPGETQRRL (in FT isoform 3)" FT /evidence="ECO:0000303|PubMed:15489334" FT /id="VSP_046039" FT VAR_SEQ 77..583 FT /note="Missing (in isoform 3)" FT /evidence="ECO:0000303|PubMed:15489334" FT /id="VSP_046040" FT CONFLICT 210 FT /note="E -> G (in Ref. 1; BAC03578)" FT /evidence="ECO:0000305" FT CONFLICT 262 FT /note="E -> V (in Ref. 1; BAC03578)" FT /evidence="ECO:0000305" SQ SEQUENCE 583 AA; 65870 MW; 438BF2F476F533AD CRC64; MAGSEQQRPR RRDDGDSDAA AAAAAPLQDA ELALAGINML LNNGFRESDQ LFKQYRNHSP LMSFGASFVS FLNAMMTFEE EKMQLACDDL KTTEKLCESE EAGVIETIKN KIKKNVDVRK SAPSMVDRLQ RQIIIADCQV YLAVLSFVKQ ELSAYIKGGW ILRKAWKIYN KCYLDINALQ ELYQKKLTEE SLTSDAANDN HIVAEGVSEE SLNRLKGAVS FGYGLFHLCI SMVPPNLLKI INLLGFPGDR LQGLSSLMYA SESKDMKAPL ATLALLWYHT VVRPFFALDG SDNKAGLDEA KEILLKKEAA YPNSSLFMFF KGRIQRLECQ INSALTSFHT ALELAVDQRE IQHVCLYEIG WCSMIELNFK DAFDSFERLK NESRWSQCYY AYLTAVCQGA TGDVDGAQIV FKEVQKLFKR KNNQIEQFSV KKAERFRKQT PTKALCVLAS IEVLYLWKAL PNCSFPNLQR MSQACHEVDD SSVVGLKYLL LGAIHKCLGN SEDAVQYFQR AVKDELCRQN NLYVQPYACY ELGCLLLDKP ETVGRGRALL LQAKEDFSGY DFENRLHVRI HAALASLREL VPQ //