TDH_HUMAN
ID TDH_HUMAN Reviewed; 230 AA.
AC Q8IZJ6; Q8IZJ5; Q96LV6;
DT 21-AUG-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 101.
DE RecName: Full=Inactive L-threonine 3-dehydrogenase, mitochondrial;
DE AltName: Full=Short chain dehydrogenase/reductase family 14E member 1 pseudogene;
DE Flags: Precursor;
GN Name=TDH {ECO:0000312|EMBL:AAM50036.1}; Synonyms=SDR14E1P;
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] {ECO:0000305, ECO:0000312|EMBL:AAM50036.1}
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3), AND TISSUE SPECIFICITY.
RC TISSUE=Liver {ECO:0000312|EMBL:AAM50036.1};
RX PubMed=12361482; DOI=10.1186/1471-2156-3-18;
RA Edgar A.J.;
RT "The human L-threonine 3-dehydrogenase gene is an expressed pseudogene.";
RL BMC Genet. 3:18-18(2002).
RN [2] {ECO:0000305, ECO:0000312|EMBL:BAB71562.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Cerebellum {ECO:0000312|EMBL:BAB71562.1};
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].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250|UniProtKB:Q8MIR0}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1 {ECO:0000269|PubMed:12361482};
CC IsoId=Q8IZJ6-1; Sequence=Displayed;
CC Name=2 {ECO:0000269|PubMed:14702039};
CC IsoId=Q8IZJ6-2; Sequence=VSP_052507;
CC Name=3 {ECO:0000269|PubMed:12361482};
CC IsoId=Q8IZJ6-3; Sequence=VSP_052507, VSP_052508, VSP_052509;
CC -!- TISSUE SPECIFICITY: Expressed in all tissues examined. Detected in most
CC cell types examined, but not observed in endothelial cells, glioma cell
CC lines and some leukemia cell lines. {ECO:0000269|PubMed:12361482}.
CC -!- SIMILARITY: Belongs to the NAD(P)-dependent epimerase/dehydratase
CC family. {ECO:0000305}.
CC -!- CAUTION: According to PubMed:12361482, the human TDH gene is an
CC expressed pseudogene encoding non-functional truncated proteins that
CC are unable to make appropriate contacts with the substrates, L-
CC threonine and NAD(+). Although all exons expected to encode a
CC functional L-threonine 3-dehydrogenase of 369 residues are present in
CC the human genome, all transcripts described encode truncated proteins
CC that result from mutations within the gene causing the loss of acceptor
CC splice site preceding exon 4 and exon 6. {ECO:0000305}.
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DR EMBL; AY101186; AAM50036.1; -; mRNA.
DR EMBL; AY101187; AAM50037.1; -; mRNA.
DR EMBL; AK057762; BAB71562.1; -; mRNA.
DR EMBL; AF131216; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR AlphaFoldDB; Q8IZJ6; -.
DR SMR; Q8IZJ6; -.
DR PhosphoSitePlus; Q8IZJ6; -.
DR BioMuta; HGNC:15547; -.
DR DMDM; 74714590; -.
DR PRIDE; Q8IZJ6; -.
DR GeneCards; TDH; -.
DR HGNC; HGNC:15547; TDH.
DR MIM; 615174; gene.
DR neXtProt; NX_Q8IZJ6; -.
DR InParanoid; Q8IZJ6; -.
DR PhylomeDB; Q8IZJ6; -.
DR BioCyc; MetaCyc:ENSG00000154316-MON; -.
DR PathwayCommons; Q8IZJ6; -.
DR Reactome; R-HSA-8849175; Threonine catabolism.
DR Pharos; Q8IZJ6; Tdark.
DR PRO; PR:Q8IZJ6; -.
DR Proteomes; UP000005640; Unplaced.
DR RNAct; Q8IZJ6; protein.
DR GO; GO:0005743; C:mitochondrial inner membrane; TAS:Reactome.
DR GO; GO:0008743; F:L-threonine 3-dehydrogenase activity; IBA:GO_Central.
DR GO; GO:0006567; P:threonine catabolic process; IBA:GO_Central.
DR InterPro; IPR001509; Epimerase_deHydtase.
DR InterPro; IPR036291; NAD(P)-bd_dom_sf.
DR Pfam; PF01370; Epimerase; 1.
DR SUPFAM; SSF51735; SSF51735; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Mitochondrion; Reference proteome; Transit peptide.
FT TRANSIT 1..?
FT /note="Mitochondrion"
FT /evidence="ECO:0000255"
FT CHAIN ?..230
FT /note="Inactive L-threonine 3-dehydrogenase, mitochondrial"
FT /id="PRO_0000298783"
FT VAR_SEQ 97..146
FT /note="Missing (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:12361482,
FT ECO:0000303|PubMed:14702039"
FT /id="VSP_052507"
FT VAR_SEQ 204..207
FT /note="TMQS -> ISDA (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:12361482"
FT /id="VSP_052508"
FT VAR_SEQ 208..230
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:12361482"
FT /id="VSP_052509"
FT CONFLICT 85
FT /note="I -> R (in Ref. 1; AAM50037 and 2; BAB71562)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 230 AA; 25407 MW; 4163D462B322EF98 CRC64;
MLFIRMLRRA GQSPACGCWT PVLPVRFLGI SPRQIPADAN FHSASFSDTD HPRVLITGAL
GQLGVGLANL LRKRFGKDSV ILSDIRKPPD HVFHSGPFIY SDILDYKNLR EIVVNNRITW
LFHYSALLSA FGEANVSLAR AVNITGLHNI LDVAAEHNLQ LFVPSTIGAF GPTSPRNPTP
DLCIQRPRTI YGVSKVHAEL MGETMQSRFS MMPQSMANSS ATWKPARDCP
