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TDH L-threonine dehydrogenase (pseudogene) [ Homo sapiens (human) ]

Gene ID: 157739, updated on 2-Nov-2024

Summary

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Official Symbol
TDHprovided by HGNC
Official Full Name
L-threonine dehydrogenase (pseudogene)provided by HGNC
Primary source
HGNC:HGNC:15547
See related
Ensembl:ENSG00000293451 MIM:615174; AllianceGenome:HGNC:15547
Gene type
pseudo
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SDR14E1P
Summary
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]
Expression
Low expression observed in reference dataset See more
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Genomic context

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See TDH in Genome Data Viewer
Location:
8p23.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (11339637..11368452)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (8370590..8399377, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (11197146..11225961)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene myotubularin related protein 9 Neighboring gene uncharacterized LOC101929290 Neighboring gene solute carrier family 35 member G5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:11204715-11205338 Neighboring gene TDH antisense RNA 1 Neighboring gene FAM167A antisense RNA 1 Neighboring gene RNA, 7SL, cytoplasmic 293, pseudogene Neighboring gene RNA, U6 small nuclear 1084, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The human L-threonine 3-dehydrogenase gene is an expressed pseudogene. Edgar AJ. BMC Genet, 2002 Oct 2. PMID 12361482, Free PMC Article
  2. Interaction between L-threonine dehydrogenase and aminoacetone synthetase and mechanism of aminoacetone production. Tressel T, et al. J Biol Chem, 1986 Dec 15. PMID 3536927
  3. Physical and transcriptional map of the critical region for keratolytic winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759. Appel S, et al. Eur J Hum Genet, 2002 Jan. PMID 11896452
  4. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Fei T, et al. Proc Natl Acad Sci U S A, 2017 Jun 27. PMID 28611215, Free PMC Article
  5. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. Persson B, et al. Chem Biol Interact, 2009 Mar 16. PMID 19027726, Free PMC Article

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Other Names

  • short chain dehydrogenase/reductase family 14E, member 1 (pseudogene)

Clone Names

  • FLJ25033

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
  

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

RNA

  1. NR_001578.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AJ301562
    Related
    ENST00000525246.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    11339637..11368452
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p14 PATCHES

    Range
    1978399..2007208 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    8370590..8399377 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_152566.2: Suppressed sequence

    Description
    NM_152566.2: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IZJ6.1 GenPept UniProtKB/Swiss-Prot:Q8IZJ6

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials