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

GO curators for mouse genes have assigned the following annotations to the gene product of Hsd17b4. (This text reflects annotations as of Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids. It also acts as a catalyst for the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids. Defects in this gene that affect the peroxisomal fatty acid beta-oxidation activity are a cause of D-bifunctional protein deficiency (DBPD). An apparent pseudogene of this gene is present on chromosome 8. [provided by RefSeq, Jul 2008]

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

• Researchers have inferred from direct assay, that the gene product of Hsd17b4
  • is located in the following cellular components:
    • mitochondrion ^{[4, 5]}
    • peroxisome ^[3]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Hsd17b4
  • participates in the following biological processes:
    • fatty acid beta-oxidation ^[1]
    • Sertoli cell development ^[2]
    • very long-chain fatty acid metabolic process ^[2]

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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 Hsd17b4:
  • participates in the following biological processes:
    • androgen metabolic process
    • estrogen metabolic process
    • fatty acid beta-oxidation
    • medium-chain fatty-acyl-CoA metabolic process
    • very long-chain fatty-acyl-CoA metabolic process
  • performs the following molecular functions:
    • 17-beta-hydroxysteroid dehydrogenase (NAD+) activity
    • 3-hydroxyacyl-CoA dehydrogenase activity
    • long-chain-enoyl-CoA hydratase activity
    • protein homodimerization activity
    • receptor binding
  • is located in the following cellular components:
    • intracellular membrane-bounded organelle
    • peroxisomal membrane
    • peroxisome

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Summary text based on GO annotations supported by structural data

• Hsd17b4 encodes a protein or proteins that contain the following InterPro domains: Glucose/ribitol dehydrogenase, MaoC-like dehydratase, NAD(P)-binding domain, SCP2 sterol-binding domain, Short-chain dehydrogenase/reductase SDR, Short-chain dehydrogenase/reductase, conserved site, indicating that the gene product:
  • participates in the following biological processes:
    • metabolic process
  • performs the following molecular functions:
    • nucleotide binding
    • oxidoreductase activity
    • sterol binding

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Hsd17b4 indicates that it:
  • participates in the following biological processes:
    • fatty acid metabolic process
    • lipid metabolic process
    • oxidation-reduction process
  • performs the following molecular functions:
    • isomerase activity
    • lyase activity
    • oxidoreductase activity
• Hsd17b4 has been associated with the Enzyme Commission numbers: 1.1.1.n12, 4.2.1.107, 4.2.1.119, which implies that the gene product:
  • performs the following molecular functions:
    • 3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity

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References

1. Dirkx R et al. (2007) Beta-oxidation in hepatocyte cultures from mice with peroxisomal gene knockouts. Biochem Biophys Res Commun, 357:718-23. (PubMed:17442273)
2. Huyghe S et al. (2006) Peroxisomal multifunctional protein 2 is essential for lipid homeostasis in sertoli cells and male fertility in mice. Endocrinology, 147:2228-36. (PubMed:16484321)
3. Maxwell M et al. (2003) Pex13 inactivation in the mouse disrupts peroxisome biogenesis and leads to a Zellweger syndrome phenotype. Mol Cell Biol, 23:5947-57. (PubMed:12897163)
4. Mootha VK et al. (2003) Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria. Cell, 115:629-40. (PubMed:14651853)
5. Pagliarini DJ et al. (2008) A mitochondrial protein compendium elucidates complex I disease biology. Cell, 134:112-23. (PubMed:18614015)

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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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