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Q8IZJ6 (TDH_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 67. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Inactive L-threonine 3-dehydrogenase, mitochondrial
Gene names
Name:TDH
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length230 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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 NAD(P)-dependent epimerase/dehydratase 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 componentMitochondrion
   Coding sequence diversityAlternative splicing
   DomainTransit peptide
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcellular metabolic process

Inferred from electronic annotation. Source: InterPro

   Cellular_componentmitochondrion

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functioncatalytic activity

Inferred from electronic annotation. Source: InterPro

coenzyme 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – ?Mitochondrion Potential UniProtKB Q8MIR0
Chain? – 230Inactive L-threonine 3-dehydrogenase, mitochondrialPRO_0000298783

Natural variations

Alternative sequence97 – 14650Missing in isoform 2 and isoform 3. Ref.1 Ref.2
VSP_052507
Alternative sequence204 – 2074TMQS → ISDA in isoform 3. Ref.1
VSP_052508
Alternative sequence208 – 23023Missing in isoform 3. Ref.1
VSP_052509

Experimental info

Sequence conflict851I → R in AAM50037. Ref.1
Sequence conflict851I → R in BAB71562. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2003. Version 1.
Checksum: 4163D462B322EF98

FASTA23025,407
        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 

« Hide

Isoform 2 [UniParc].

Checksum: B7E33C75DF17B126
Show »

FASTA18019,739
Isoform 3 [UniParc].

Checksum: 7B04CDA42DFEF304
Show »

FASTA15717,096

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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.
UniGeneHs.583896.

3D structure databases

ProteinModelPortalQ8IZJ6.
SMRQ8IZJ6. Positions 51-199.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000317255.

Polymorphism databases

DMDM74714590.

Proteomic databases

PaxDbQ8IZJ6.
PRIDEQ8IZJ6.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Organism-specific databases

GeneCardsGC08P011198.
H-InvDBHIX0007313.
HGNCHGNC:15547. TDH.
MIM615174. gene.
neXtProtNX_Q8IZJ6.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0451.
HOGENOMHOG000151268.
HOVERGENHBG071436.
InParanoidQ8IZJ6.
PhylomeDBQ8IZJ6.

Gene expression databases

GenevestigatorQ8IZJ6.

Family and domain databases

Gene3D3.40.50.720. 1 hit.
InterProIPR001509. Epimerase_deHydtase.
IPR016040. NAD(P)-bd_dom.
[Graphical view]
PfamPF01370. Epimerase. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

PROQ8IZJ6.
SOURCESearch...

Entry information

Entry nameTDH_HUMAN
AccessionPrimary (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: April 16, 2014
This is version 67 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM