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

GO curators for mouse genes have assigned the following annotations to the gene product of Dhcr24. (This text reflects annotations as of Wednesday, January 23, 2013.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of August 24, 2006. 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 flavin adenine dinucleotide (FAD)-dependent oxidoreductase which catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. The protein contains a leader sequence that directs it to the endoplasmic reticulum membrane. Missense mutations in this gene have been associated with desmosterolosis. Also, reduced expression of the gene occurs in the temporal cortex of Alzheimer disease patients and overexpression has been observed in adrenal gland cancer cells. [provided by RefSeq, Jul 2008]

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

• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Dhcr24
  • participates in the following biological processes:
    • amyloid precursor protein catabolic process ^[1]
    • cellular membrane organization ^[1]
    • cholesterol biosynthetic process ^{[2, 4, 5]}
    • cholesterol metabolic process ^[1]
    • male genitalia development ^[5]
    • plasminogen activation ^[1]
    • protein localization ^{[1, 2]}
    • skin development ^[3]
    • sterol metabolic process ^[5]
    • tissue development ^[5]

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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 Dhcr24:
  • participates in the following biological processes:
    • cholesterol biosynthetic process
    • negative regulation of apoptotic process
    • negative regulation of cell proliferation
    • negative regulation of cysteine-type endopeptidase activity involved in apoptotic process
    • oxidation-reduction process
    • Ras protein signal transduction
    • steroid metabolic process
    • tissue development
  • performs the following molecular functions:
    • enzyme binding
    • oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor
    • peptide antigen binding
  • is located in the following cellular components:
    • cytoplasm
    • cytoskeleton
    • cytosol
    • endoplasmic reticulum
    • membrane
    • nucleus

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Summary text based on GO annotations supported by structural data

• Dhcr24 encodes a protein or proteins that contain the following InterPro domains: FAD linked oxidase, N-terminal, FAD-binding, type 2, FAD-linked oxidase, FAD-binding, subdomain 2, indicating that the gene product:
  • performs the following molecular functions:
    • catalytic activity
    • flavin adenine dinucleotide binding
    • oxidoreductase activity
    • oxidoreductase activity, acting on CH-OH group of donors
    • UDP-N-acetylmuramate dehydrogenase activity

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Dhcr24 indicates that it:
  • participates in the following biological processes:
    • lipid metabolic process
    • steroid biosynthetic process
    • sterol biosynthetic process
  • performs the following molecular functions:
    • oxidoreductase activity
  • is located in the following cellular components:
    • Golgi apparatus
    • integral to membrane
• Dhcr24 has been associated with the Enzyme Commission numbers: 1.3.1.72, which implies that the gene product:
  • performs the following molecular functions:
    • delta24-sterol reductase activity

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References

1. Crameri A et al. (2006) The role of seladin-1/DHCR24 in cholesterol biosynthesis, APP processing and Abeta generation in vivo. EMBO J, 25:432-43. (PubMed:16407971)
2. Lu X et al. (2006) DHCR24-knockout embryonic fibroblasts are susceptible to serum withdrawal-induced apoptosis because of dysfunction of caveolae and insulin-Akt-Bad signaling. Endocrinology, 147:3123-32. (PubMed:16513830)
3. Mirza R et al. (2006) DHCR24 gene knockout mice demonstrate lethal dermopathy with differentiation and maturation defects in the epidermis. J Invest Dermatol, 126:638-47. (PubMed:16410790)
4. Ohyama Y et al. (2006) Studies on the transcriptional regulation of cholesterol 24-hydroxylase (CYP46A1): marked insensitivity toward different regulatory axes. J Biol Chem, 281:3810-20. (PubMed:16321981)
5. Wechsler A et al. (2003) Generation of viable cholesterol-free mice. Science, 302:2087. (PubMed:14684813)

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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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