TT39C_HUMAN
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 03-AUG-2022, entry version 142.
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};
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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. [Q8N584-2]
DR RefSeq; XP_016881039.1; XM_017025550.1. [Q8N584-2]
DR AlphaFoldDB; Q8N584; -.
DR SMR; Q8N584; -.
DR BioGRID; 125929; 11.
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; Q8N584; -.
DR PeptideAtlas; Q8N584; -.
DR PRIDE; Q8N584; -.
DR ProteomicsDB; 72019; -. [Q8N584-1]
DR ProteomicsDB; 72020; -. [Q8N584-2]
DR Antibodypedia; 70687; 20 antibodies from 9 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 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; MLYINRD; -.
DR OrthoDB; 269827at2759; -.
DR PhylomeDB; Q8N584; -.
DR TreeFam; TF313761; -.
DR PathwayCommons; Q8N584; -.
DR SignaLink; Q8N584; -.
DR BioGRID-ORCS; 125488; 12 hits in 1066 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 163 other tissues.
DR ExpressionAtlas; Q8N584; baseline and differential.
DR Genevisible; Q8N584; HS.
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; -; 1.
DR InterPro; IPR019412; Iml2/TPR_39.
DR InterPro; IPR011990; TPR-like_helical_dom_sf.
DR PANTHER; PTHR31859; PTHR31859; 1.
DR Pfam; PF10300; DUF3808; 1.
DR SUPFAM; SSF48452; SSF48452; 1.
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
