Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Dhtkd1. (This text reflects annotations as of Thursday, July 24, 2014.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of February 9, 2010. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of a mitochondrial 2-oxoglutarate-dehydrogenase-complex-like protein involved in the degradation pathways of several amino acids, including lysine. Mutations in this gene are associated with 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth Disease Type 2Q. [provided by RefSeq, May 2013]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred, based on genetic interactions, that the gene product of Dhtkd1
  • participates in the following biological processes:
    • hematopoietic progenitor cell differentiation based on interactions with Samd9l ^[1]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Dhtkd1:
  • participates in the following biological processes:
    • generation of precursor metabolites and energy
  • is located in the following cellular components:
    • mitochondrion

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Summary text based on GO annotations supported by structural data

• Dhtkd1 encodes a protein or proteins that contain the following InterPro domains: 2-oxoglutarate dehydrogenase, E1 component, Dehydrogenase, E1 component, Transketolase-like, pyrimidine-binding domain, indicating that the gene product:
  • participates in the following biological processes:
    • metabolic process
    • oxidation-reduction process
    • tricarboxylic acid cycle
  • performs the following molecular functions:
    • oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor
    • oxoglutarate dehydrogenase (succinyl-transferring) activity
    • thiamine pyrophosphate binding

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Dhtkd1 indicates that it:
  • participates in the following biological processes:
    • glycolytic process
    • oxidation-reduction process
  • performs the following molecular functions:
    • oxidoreductase activity
• Dhtkd1 has been associated with the Enzyme Commission numbers: 1.2.4.2, which implies that the gene product:
  • performs the following molecular functions:
    • oxoglutarate dehydrogenase (succinyl-transferring) activity
• Annotations directly to for the gene Dhtkd1 indicate that MGI curators have found no experimental data [literature] to support further annotation to this category at this time.

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References

1. Nagamachi A et al. (2013) Haploinsufficiency of SAMD9L, an endosome fusion facilitator, causes myeloid malignancies in mice mimicking human diseases with monosomy 7. Cancer Cell, 24:305-17. (PubMed:24029230)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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