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MGI:Dhcr24
Contents |
| Species (Taxon ID) | Mus musculus (house mouse) (taxon:10090) | |
| Gene Name(s) | Dhcr24 ( synonyms: 3-beta-hydroxysterol delta-24 reductase, seladin-1 ) | |
| Protein Name(s) | 24-dehydrocholesterol reductase, | |
| External Links | ||
| MGI | MGI:1922004 | |
Annotations
| Qualifier | GO ID | GO term name | Reference | Evidence Code | with/from | Aspect | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0003824 |
catalytic activity |
MGI:MGI:2152098 |
IEA: Inferred from Electronic Annotation |
F |
From MGI |
|||
| GO:0005624 |
membrane fraction |
MGI:MGI:4417868 |
ISO: Inferred from Sequence Orthology |
NCBI:NP_001073617 |
C |
From MGI |
||
| GO:0005634 |
nucleus |
MGI:MGI:4417868 |
ISO: Inferred from Sequence Orthology |
NCBI:NP_001073617 |
C |
From MGI |
||
| GO:0005634 |
nucleus |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0005737 |
cytoplasm |
MGI:MGI:4417868 |
ISO: Inferred from Sequence Orthology |
NCBI:NP_001073617 |
C |
From MGI |
||
| GO:0005783 |
endoplasmic reticulum |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0005794 |
Golgi apparatus |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0333 |
C |
From MGI |
||
| GO:0005829 |
cytosol |
MGI:MGI:4417868 |
ISO: Inferred from Sequence Orthology |
NCBI:NP_001073617 |
C |
From MGI |
||
| GO:0005856 |
cytoskeleton |
MGI:MGI:4417868 |
ISO: Inferred from Sequence Orthology |
NCBI:NP_001073617 |
C |
From MGI |
||
| GO:0006694 |
steroid biosynthetic process |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0752 |
P |
From MGI |
||
| GO:0006695 |
cholesterol biosynthetic process |
MGI:MGI:2150468 |
ISO: Inferred from Sequence Orthology |
P |
From MGI |
|||
| GO:0006695 |
cholesterol biosynthetic process |
MGI:MGI:2686848 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:3027024 |
P |
From MGI |
||
| GO:0006695 |
cholesterol biosynthetic process |
MGI:MGI:3624168 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:3027024 |
P |
From MGI |
||
| GO:0006695 |
cholesterol biosynthetic process |
MGI:MGI:3769949 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:3027024 |
P |
From MGI |
||
| GO:0006916 |
anti-apoptosis |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
P |
From MGI |
|||
| GO:0007265 |
Ras protein signal transduction |
MGI:MGI:4417868 |
ISO: Inferred from Sequence Orthology |
NCBI:NP_001073617 |
P |
From MGI |
||
| GO:0008104 |
protein localization |
MGI:MGI:3614236 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:3027024 |
P |
From MGI |
||
| GO:0008104 |
protein localization |
MGI:MGI:3769949 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:3027024 |
P |
From MGI |
||
| GO:0008202 |
steroid metabolic process |
MGI:MGI:4417868 |
ISO: Inferred from Sequence Orthology |
NCBI:NP_001073617 |
P |
From MGI |
||
| GO:0008203 |
cholesterol metabolic process |
MGI:MGI:3614236 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:3027024 |
P |
From MGI |
||
| GO:0008285 |
negative regulation of cell proliferation |
MGI:MGI:4417868 |
ISO: Inferred from Sequence Orthology |
NCBI:NP_001073617 |
P |
From MGI |
||
| GO:0008610 |
lipid biosynthetic process |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0444 |
P |
From MGI |
||
| GO:0008762 |
UDP-N-acetylmuramate dehydrogenase activity |
MGI:MGI:2152098 |
IEA: Inferred from Electronic Annotation |
F |
From MGI |
|||
| GO:0009888 |
tissue development |
MGI:MGI:2686848 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:3027024 |
P |
From MGI |
||
| GO:0009888 |
tissue development |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
P |
From MGI |
|||
| GO:0016020 |
membrane |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0472 |
C |
From MGI |
||
| GO:0016021 |
integral to membrane |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0812 |
C |
From MGI |
||
| GO:0016044 |
cellular membrane organization |
MGI:MGI:3614236 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:3027024 |
P |
From MGI |
||
| GO:0016125 |
sterol metabolic process |
MGI:MGI:2686848 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:3027024 |
P |
From MGI |
||
| GO:0016126 |
sterol biosynthetic process |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0756 |
P |
From MGI |
||
| GO:0016491 |
oxidoreductase activity |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0560 |
F |
From MGI |
||
| GO:0016491 |
oxidoreductase activity |
MGI:MGI:2152098 |
IEA: Inferred from Electronic Annotation |
F |
From MGI |
|||
| GO:0016614 |
oxidoreductase activity, acting on CH-OH group of donors |
MGI:MGI:2152098 |
IEA: Inferred from Electronic Annotation |
F |
From MGI |
|||
| GO:0016628 |
oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor |
MGI:MGI:2150468 |
ISO: Inferred from Sequence Orthology |
F |
From MGI |
|||
| GO:0019899 |
enzyme binding |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
F |
From MGI |
|||
| GO:0030539 |
male genitalia development |
MGI:MGI:2686848 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:3027024 |
P |
From MGI |
||
| GO:0031639 |
plasminogen activation |
MGI:MGI:3614236 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:3027024 |
P |
From MGI |
||
| GO:0042605 |
peptide antigen binding |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
F |
From MGI |
|||
| GO:0042987 |
amyloid precursor protein catabolic process |
MGI:MGI:3614236 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:3027024 |
P |
From MGI |
||
| GO:0043154 |
negative regulation of cysteine-type endopeptidase activity involved in apoptotic process |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
P |
From MGI |
|||
| GO:0043588 |
skin development |
MGI:MGI:3619481 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0050614 |
delta24-sterol reductase activity |
MGI:MGI:2152096 |
IEA: Inferred from Electronic Annotation |
F |
From MGI |
|||
| GO:0050660 |
flavin adenine dinucleotide binding |
MGI:MGI:2152098 |
IEA: Inferred from Electronic Annotation |
F |
From MGI |
| ||
| edit table |
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ 1.0 1.1 Waterham HR et al. (2001) Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. Am J Hum Genet 69: 685-94 PubMed GONUTS page
- ↑ 2.0 2.1 2.2 2.3 Wechsler A et al. (2003) Generation of viable cholesterol-free mice. Science 302: 2087 PubMed GONUTS page
- ↑ 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 GONUTS page
- ↑ 4.0 4.1 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 GONUTS page
- ↑ 5.0 5.1 5.2 5.3 5.4 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 GONUTS page
- ↑ 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 GONUTS page