DHRS1 (dehydrogenase/reductase 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 115817 |
| Gene name | Dehydrogenase/reductase 1 |
| Gene symbol | DHRS1 |
| Synonyms (NCBI Gene) |
SDR19C1
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| Chromosome | 14 |
| Chromosome location | 14q12 |
| Summary | This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family. The encoded enzyme contains a conserved catalytic domain and likely functions as an oxidoreductase. Multiple alternatively spliced variants, encoding the same protein, h |
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q96LJ7 | ||||||||||
| Protein name | Dehydrogenase/reductase SDR family member 1 (EC 1.1.1.-) (Short chain dehydrogenase/reductase family 19C member 1) (Protein SDR19C1) | ||||||||||
| Protein function | NADPH-dependent oxidoreductase which catalyzes the reduction of steroids (estrone, androstene-3,17-dione and cortisone) as well as prostaglandin E1, isatin and xenobiotics in vitro (PubMed:30031147). May have a role in steroid and/or xenobiotic | ||||||||||
| PDB | 2QQ5 | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Detected in heart, liver, adrenal glands, and at low levels in skeletal muscle, kidney, pancreas and brain. {ECO:0000269|PubMed:12153138, ECO:0000269|PubMed:30031147}. | ||||||||||
| Sequence |
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| Sequence length | 313 | ||||||||||
| Interactions | View interactions | ||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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