Q8IZJ6 (TDH_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Inactive L-threonine 3-dehydrogenase, mitochondrial

Gene names

Name:

TDH

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	230 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at transcript level

General annotation (Comments)

Subcellular location	Mitochondrion By similarity UniProtKB Q8MIR0.
Tissue specificity	Expressed in all tissues examined. Detected in most cell types examined, but not observed in endothelial cells, glioma cell lines and some leukemia cell lines. Ref.1
Sequence similarities	Belongs to the sugar epimerase family.
Caution	According to Ref.1, the human TDH gene is an expressed pseudogene encoding non-functional truncated proteins that are unable to make appropriate contacts with the substrates, L-threonine and NAD+. Although all exons expected to encode a functional L-threonine 3-dehydrogenase of 369 residues are present in the human genome, all transcripts described encode truncated proteins that result from mutations within the gene causing the loss of acceptor splice site preceding exon 4 and exon 6.

Ontologies

Keywords
Cellular component	Mitochondrion
Coding sequence diversity	Alternative splicing
Domain	Transit peptide
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cellular metabolic process Inferred from electronic annotation. Source: InterPro
Cellular_component	mitochondrion Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	catalytic activity Inferred from electronic annotation. Source: InterPro coenzyme binding Inferred from electronic annotation. Source: InterPro nucleotide binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 Ref.1 (identifier: Q8IZJ6-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 Ref.2 (identifier: Q8IZJ6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     97-146: Missing.

Note: No experimental confirmation available.

Isoform 3 Ref.1 (identifier: Q8IZJ6-3)

The sequence of this isoform differs from the canonical sequence as follows:
     97-146: Missing.
     204-207: TMQS → ISDA
     208-230: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – ?		Mitochondrion Potential UniProtKB Q8MIR0
	Chain	? – 230		Inactive L-threonine 3-dehydrogenase, mitochondrial		PRO_0000298783
Natural variations
	Alternative sequence	97 – 146	50	Missing in isoform 2 and isoform 3. Ref.1 Ref.2		VSP_052507
	Alternative sequence	204 – 207	4	TMQS → ISDA in isoform 3. Ref.1		VSP_052508
	Alternative sequence	208 – 230	23	Missing in isoform 3. Ref.1		VSP_052509
Experimental info
	Sequence conflict	85	1	I → R in AAM50037. Ref.1
	Sequence conflict	85	1	I → R in BAB71562. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 1, 2003. Version 1. Checksum: 4163D462B322EF98	FASTA	230	25,407
	10 20 30 40 50 60 MLFIRMLRRA GQSPACGCWT PVLPVRFLGI SPRQIPADAN FHSASFSDTD HPRVLITGAL 70 80 90 100 110 120 GQLGVGLANL LRKRFGKDSV ILSDIRKPPD HVFHSGPFIY SDILDYKNLR EIVVNNRITW 130 140 150 160 170 180 LFHYSALLSA FGEANVSLAR AVNITGLHNI LDVAAEHNLQ LFVPSTIGAF GPTSPRNPTP 190 200 210 220 230 DLCIQRPRTI YGVSKVHAEL MGETMQSRFS MMPQSMANSS ATWKPARDCP
	Isoform 2 [UniParc]. Checksum: B7E33C75DF17B126	FASTA	180	19,739
	10 20 30 40 50 60 MLFIRMLRRA GQSPACGCWT PVLPVRFLGI SPRQIPADAN FHSASFSDTD HPRVLITGAL 70 80 90 100 110 120 GQLGVGLANL LRKRFGKDSV ILSDIRKPPD HVFHSGLHNI LDVAAEHNLQ LFVPSTIGAF 130 140 150 160 170 180 GPTSPRNPTP DLCIQRPRTI YGVSKVHAEL MGETMQSRFS MMPQSMANSS ATWKPARDCP
	Isoform 3 [UniParc]. Checksum: 7B04CDA42DFEF304	FASTA	157	17,096
	10 20 30 40 50 60 MLFIRMLRRA GQSPACGCWT PVLPVRFLGI SPRQIPADAN FHSASFSDTD HPRVLITGAL 70 80 90 100 110 120 GQLGVGLANL LRKRFGKDSV ILSDIRKPPD HVFHSGLHNI LDVAAEHNLQ LFVPSTIGAF 130 140 150 GPTSPRNPTP DLCIQRPRTI YGVSKVHAEL MGEISDA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The human L-threonine 3-dehydrogenase gene is an expressed pseudogene." Edgar A.J. BMC Genet. 3:18-18(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3), TISSUE SPECIFICITY. Tissue: Liver.
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Cerebellum.
[3]	"DNA sequence and analysis of human chromosome 8." Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T. , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S. Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY101186 mRNA. Translation: AAM50036.1. AY101187 mRNA. Translation: AAM50037.1. AK057762 mRNA. Translation: BAB71562.1. AF131216 Genomic DNA. No translation available.
IPI	IPI00064794. IPI00065320. IPI00789813.
UniGene	Hs.583896.
3D structure databases
ProteinModelPortal	Q8IZJ6.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000317255.
Polymorphism databases
DMDM	74714590.
Proteomic databases
PaxDb	Q8IZJ6.
PRIDE	Q8IZJ6.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Organism-specific databases
GeneCards	GC08P011198.
H-InvDB	HIX0007313.
HGNC	HGNC:15547. TDH.
neXtProt	NX_Q8IZJ6.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0451.
HOGENOM	HOG000151268.
HOVERGEN	HBG071436.
InParanoid	Q8IZJ6.
OrthoDB	EOG4B2SXX.
Gene expression databases
Genevestigator	Q8IZJ6.
Family and domain databases
Gene3D	3.40.50.720. 1 hit.
InterPro	IPR001509. Epimerase_deHydtase. IPR016040. NAD(P)-bd_dom. [Graphical view]
Pfam	PF01370. Epimerase. 1 hit. [Graphical view]
ProtoNet	Search...

Entry information

Entry name

TDH_HUMAN

Accession

Primary (citable) accession number: Q8IZJ6
Secondary accession number(s): Q8IZJ5, Q96LV6

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 21, 2007
Last sequence update:	March 1, 2003
Last modified:	May 1, 2013
This is version 60 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.