Primary Information |
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| BoMiProt ID | Bomi9147 |
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| Protein Name | Short-chain dehydrogenase/reductase family 42E member 1 |
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| Organism | Bos taurus |
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| Uniprot ID | Q32L94 |
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| Milk Fraction | Whey,MFGM |
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| Ref Sequence ID | NP_001073761.1 |
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| Aminoacid Length | 393 |
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| Molecular Weight | 43740 |
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| FASTA Sequence |
Download |
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| Gene Name | SDR42E1 |
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| Gene ID | 532489 |
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| Protein Existence Status | reviewed |
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Secondary Information |
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| Protein Function | The role of SDR42E1 in the regulation of cholesterol metabolism in the maintenance of connective tissue and sexual maturation in humans. |
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| Biochemical Properties | This is an enzyme formed by a 3 beta-hydroxysteroid dehydrogenase (3β-HSD) domain and two transmembrane domains.The variant is predicted to affect the highly conserved arginine residue at position 154 within the catalytic 3b-HSD domain, located between the active site at position 152 and the binding site at position 156. |
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| Significance in milk | major candidate genes for causing the yellow fat colour, based on their genomic locations in the fat colour quantitative trait loci (QTL) and their roles in the metabolism of β-carotene.which converts trans-retinol to another form of vitamin A, trans-retinal, the rate-limiting step in the production of the most potent vitamin A derivative, retinoic acid. |
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Site(s) of PTM(s)
N-glycosylation,
O-glycosylation,
Phosphorylation
| NA |
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| Predicted Disorder Regions | NA |
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| DisProt Annotation | |
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| TM Helix Prediction | 3TMHs; (19-37),(284-302),(369-391) |
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| Bibliography | 1.Bouhouche A, Albaroudi N, El Alaoui MA, Askander O, Habbadi Z, El Hassani A, Iraqi H, El Fahime E, Belmekki M. Identification of the novel SDR42E1 gene that affects steroid biosynthesis associated with the oculocutaneous genital syndrome. Exp Eye Res. 2021 Aug;209:108671. doi: 10.1016/j.exer.2021.108671. Epub 2021 Jun 13. PMID: 34133966. 2.Tian, R., Cullen, N.G., Morris, C.A. et al. Major effect of retinal short-chain dehydrogenase reductase (RDHE2) on bovine fat colour. Mamm Genome 23, 378–386 (2012). https://doi.org/10.1007/s00335-012-9396-0 |
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