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Aliases for TDH Gene

Aliases for TDH Gene

  • L-Threonine Dehydrogenase (Pseudogene) 2 3 5
  • Short Chain Dehydrogenase/Reductase Family 14E, Member 1 (Pseudogene) 2 3
  • SDR14E1P 3 4
  • Short Chain Dehydrogenase/Reductase Family 14E Member 1 Pseudogene 4
  • L-Threonine Dehydrogenase 2

External Ids for TDH Gene

Previous GeneCards Identifiers for TDH Gene

  • GC00U990976
  • GC08P011076
  • GC08P011242
  • GC08P011234
  • GC08P011198
  • GC08P010127

Summaries for TDH Gene

Entrez Gene Summary for TDH Gene

  • This gene appears to be an evolving pseudogene of L-threonine 3-dehydrogenase (TDH). In both prokaryotes and eukaryotes, TDH catalyzes the first of two steps in one of two L-threonine degradation pathways. However, in human, the single gene with sequence similarity to TDH is not capable of encoding a functional TDH protein; the predicted protein lacks most of the C-terminus and parts of the NAD+ binding motif when compared to other species' TDH proteins. This suggests that the human gene is therefore a pseudogene. Transcripts of this gene are found in all tissues and alternatively spliced transcripts have been described. It is not known if these transcripts are translated, or if the possible protein product provides any functional role. [provided by RefSeq, Jul 2008]

GeneCards Summary for TDH Gene

TDH (L-Threonine Dehydrogenase (Pseudogene)) is a Pseudogene. Diseases associated with TDH include Keratolytic Winter Erythema. Among its related pathways are Viral mRNA Translation and Threonine catabolism. GO annotations related to this gene include coenzyme binding.

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TDH Gene

Genomics for TDH Gene

Regulatory Elements for TDH Gene

Enhancers for TDH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G011416 1.4 Ensembl ENCODE dbSUPER 10.4 +78.1 78101 2.3 HDGF PKNOX1 FOXA2 TBL1XR1 WRNIP1 RELB ETV6 IKZF2 CREM CBFB FAM167A BLK LOC105379241 FAM167A-AS1 ENSG00000255020 TDH ENSG00000255310 ENSG00000255518 ALG1L11P PIR51526
GH08G011415 0.5 dbSUPER 10.4 +75.9 75883 0.6 ZNF629 KLF17 ATF2 FAM167A BLK LOC105379241 FAM167A-AS1 ENSG00000255020 TDH ENSG00000255310 PIR51526 RNU6-1084P GC08M011394
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TDH on UCSC Golden Path with GeneCards custom track

Genomic Location for TDH Gene

Chromosome:
8
Start:
11,339,637 bp from pter
End:
11,368,452 bp from pter
Size:
28,816 bases
Orientation:
Plus strand

Genomic View for TDH Gene

Genes around TDH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TDH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TDH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TDH Gene

Proteins for TDH Gene

  • Protein details for TDH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IZJ6-TDH_HUMAN
    Recommended name:
    Inactive L-threonine 3-dehydrogenase, mitochondrial
    Protein Accession:
    Q8IZJ6
    Secondary Accessions:
    • Q8IZJ5
    • Q96LV6

    Protein attributes for TDH Gene

    Size:
    230 amino acids
    Molecular mass:
    25407 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TDH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TDH Gene

Post-translational modifications for TDH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TDH Gene

Domains & Families for TDH Gene

Protein Domains for TDH Gene

Suggested Antigen Peptide Sequences for TDH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IZJ6

UniProtKB/Swiss-Prot:

TDH_HUMAN :
  • Belongs to the NAD(P)-dependent epimerase/dehydratase family.
Family:
  • Belongs to the NAD(P)-dependent epimerase/dehydratase family.
genes like me logo Genes that share domains with TDH: view

Function for TDH Gene

Gene Ontology (GO) - Molecular Function for TDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0050662 coenzyme binding IEA --
genes like me logo Genes that share ontologies with TDH: view

Animal Model Products

  • Taconic Biosciences Mouse Models for TDH

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TDH Gene

Localization for TDH Gene

Subcellular locations from UniProtKB/Swiss-Prot for TDH Gene

Mitochondrion.

Gene Ontology (GO) - Cellular Components for TDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005743 mitochondrial inner membrane TAS --
genes like me logo Genes that share ontologies with TDH: view

No data available for Subcellular locations from COMPARTMENTS for TDH Gene

Pathways & Interactions for TDH Gene

genes like me logo Genes that share pathways with TDH: view

Pathways by source for TDH Gene

Interacting Proteins for TDH Gene

Selected Interacting proteins: Q8IZJ6-TDH_HUMAN for TDH Gene via IID

Symbol External ID(s) Details
GCAT

Gene Ontology (GO) - Biological Process for TDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019518 L-threonine catabolic process to glycine TAS --
genes like me logo Genes that share ontologies with TDH: view

No data available for SIGNOR curated interactions for TDH Gene

Drugs & Compounds for TDH Gene

(3) Drugs for TDH Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Qc 1 Pharma 0

(2) Additional Compounds for TDH Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for TDH Gene

Compound Action Cas Number
Qc 1 403718-45-6
genes like me logo Genes that share compounds with TDH: view

Drug Products

Transcripts for TDH Gene

Unigene Clusters for TDH Gene

L-threonine dehydrogenase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TDH Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13
SP1: - - - - -
SP2: - - -
SP3: - -
SP4:

Relevant External Links for TDH Gene

GeneLoc Exon Structure for
TDH
ECgene alternative splicing isoforms for
TDH

Expression for TDH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TDH Gene

mRNA differential expression in normal tissues according to GTEx for TDH Gene

This gene is overexpressed in Pancreas (x19.0).

Protein differential expression in normal tissues from HIPED for TDH Gene

This gene is overexpressed in Adrenal (49.0) and Ovary (20.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TDH Gene



Protein tissue co-expression partners for TDH Gene

NURSA nuclear receptor signaling pathways regulating expression of TDH Gene:

TDH

SOURCE GeneReport for Unigene cluster for TDH Gene:

Hs.583896

mRNA Expression by UniProt/SwissProt for TDH Gene:

Q8IZJ6-TDH_HUMAN
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.
genes like me logo Genes that share expression patterns with TDH: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for TDH Gene

Orthologs for TDH Gene

Evolution for TDH Gene

ENSEMBL:
Gene Tree for TDH (if available)
TreeFam:
Gene Tree for TDH (if available)

No data available for Orthologs for TDH Gene

Paralogs for TDH Gene

No data available for Paralogs for TDH Gene

Variants for TDH Gene

Sequence variations from dbSNP and Humsavar for TDH Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1000014675 -- 11,366,859(+) AATCA(C/G)TAGGA intron-variant, upstream-variant-2KB
rs1000020018 -- 11,367,126(+) GGTTT(A/G)TGTTT intron-variant, upstream-variant-2KB
rs1000027027 -- 11,362,776(+) AATGA(C/G)ATTTC intron-variant
rs1000055301 -- 11,351,771(+) AAGAG(C/G)TCATA intron-variant
rs1000058857 -- 11,340,086(+) ATCGA(C/G)ACTAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TDH Gene

Variant ID Type Subtype PubMed ID
esv2658364 CNV deletion 23128226
esv2661653 CNV deletion 23128226
esv3305273 CNV mobile element insertion 20981092
esv3308975 CNV mobile element insertion 20981092
esv3383193 CNV insertion 20981092
esv34097 CNV loss 18971310
esv3438686 CNV insertion 20981092
esv3616243 CNV loss 21293372
esv3616244 CNV loss 21293372
esv3616245 CNV loss 21293372
esv3616246 CNV loss 21293372
esv3891339 CNV loss 25118596
nsv1033312 CNV loss 25217958
nsv831233 CNV gain 17160897

Relevant External Links for TDH Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TDH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for TDH Gene

Disorders for TDH Gene

MalaCards: The human disease database

(1) MalaCards diseases for TDH Gene - From: GeneCards

Disorder Aliases PubMed IDs
keratolytic winter erythema
  • erythrokeratolysis hiemalis ichthyosis
- elite association - COSMIC cancer census association via MalaCards
Search TDH in MalaCards View complete list of genes associated with diseases

Relevant External Links for TDH

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TDH
genes like me logo Genes that share disorders with TDH: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TDH Gene

Publications for TDH Gene

  1. The human L-threonine 3-dehydrogenase gene is an expressed pseudogene. (PMID: 12361482) Edgar A.J. (BMC Genet. 2002) 2 3 4 22 64
  2. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B. … Oppermann U. (Chem. Biol. Interact. 2009) 2 3 64
  3. Physical and transcriptional map of the critical region for keratolytic winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759. (PMID: 11896452) Appel S. … Rosenthal A. (Eur. J. Hum. Genet. 2002) 2 3 64
  4. [Etiologic and molecular characteristics of Vibrio parahaemolyticus strains isolated from diarrheal patients in Shenzhen, in 2007 - 2008]. (PMID: 20302699) Wang Y. … Yang Z.R. (Zhonghua Liu Xing Bing Xue Za Zhi 2010) 22 64
  5. [Type III secretion system of Vibrio parahaemolyticus--a review]. (PMID: 19873746) Yu Y. … Fang W. (Wei Sheng Wu Xue Bao 2009) 22 64

Products for TDH Gene

Sources for TDH Gene

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