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

    Gene ID: 157739, updated on 10-Dec-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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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 studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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