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... See more...

Aliases for TDH Gene

Aliases for TDH Gene

  • L-Threonine Dehydrogenase (Pseudogene) 2 3 5
  • SDR14E1P 2 3 4
  • Short Chain Dehydrogenase/Reductase Family 14E, Member 1 (Pseudogene) 2 3
  • Short Chain Dehydrogenase/Reductase Family 14E Member 1 Pseudogene 4
  • Inactive L-Threonine 3-Dehydrogenase, Mitochondrial 4
  • L-Threonine Dehydrogenase 2
  • FLJ25033 2
  • TDH 5

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 Acalculous Cholecystitis and Keratolytic Winter Erythema. Among its related pathways are Metabolism and Threonine catabolism. Gene Ontology (GO) annotations related to this gene include coenzyme binding.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TDH Gene

Genomics for TDH Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TDH Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TDH on the GeneHancer Hub at the UCSC Golden Path

Top Transcription factor binding sites by QIAGEN in the TDH gene promoter:
  • AML1a
  • C/EBPbeta
  • E47
  • GATA-1
  • GR
  • GR-alpha
  • Hand1
  • Ik-3
  • p53
  • Pax-4a

Genomic Locations for TDH Gene

Latest Assembly
chr8:11,339,637-11,368,452
(GRCh38/hg38)
Size:
28,816 bases
Orientation:
Plus strand

Previous Assembly
chr8:11,197,146-11,225,961
(GRCh37/hg19 by Entrez Gene)
Size:
28,816 bases
Orientation:
Plus strand

chr8:11,197,146-11,225,961
(GRCh37/hg19 by Ensembl)
Size:
28,816 bases
Orientation:
Plus strand

Alternative Locations (GRCh38/hg38)

  • chr8(PATCHES):1,978,399-2,007,208 (-)

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

Gene Families for TDH Gene

Protein Domains for TDH Gene

Suggested Antigen Peptide Sequences for TDH Gene

GenScript: Design optimal peptide antigens:
  • Inactive L-threonine 3-dehydrogenase, mitochondrial (TDH_HUMAN)

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

Phenotypes From GWAS Catalog for TDH Gene

Gene Ontology (GO) - Molecular Function for TDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008743 L-threonine 3-dehydrogenase activity IBA 21873635
genes like me logo Genes that share ontologies with TDH: view

miRNA for TDH Gene

miRTarBase miRNAs that target TDH

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , 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 and Subcellular locations from the Human Protein Atlas (HPA) 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:0006567 threonine catabolic process IBA 21873635
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 for research

Transcripts for TDH Gene

mRNA/cDNA for TDH Gene

5 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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

Expression for TDH Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Lymph (Hematopoietic System)

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 for research

No data available for 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)
Alliance of Genome Resources:
Additional Orthologs for TDH

No data available for Orthologs for TDH Gene

Paralogs for TDH Gene

No data available for Paralogs for TDH Gene

Variants for TDH Gene

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

Additional Variant Information for TDH Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TDH
Leiden Open Variation Database (LOVD)
TDH

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP , dbSNP identifiers (rs#s) for variants without ClinVar clinical significance and Variation tolerance for TDH Gene

Disorders for TDH Gene

MalaCards: The human disease database

(2) MalaCards diseases for TDH Gene - From: GCD

Disorder Aliases PubMed IDs
acalculous cholecystitis
  • acute acalculous cholecystitis
keratolytic winter erythema
  • kwe
- elite association - COSMIC cancer census association via MalaCards
Search TDH in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 AJ (BMC genetics 2002) 2 3 4 22
  2. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B … Oppermann U (Chemico-biological interactions 2009) 2 3
  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 (European journal of human genetics : EJHG 2002) 2 3
  4. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3

Products for TDH Gene

Sources for TDH Gene