Gene Gene information from NCBI Gene database.
Entrez ID 115817
Gene name Dehydrogenase/reductase 1
Gene symbol DHRS1
Synonyms (NCBI Gene)
SDR19C1
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
miRNA miRNA information provided by mirtarbase database.
34
miRTarBase ID miRNA Experiments Reference
MIRT022646 hsa-miR-124-3p Microarray 18668037
MIRT023693 hsa-miR-1-3p Proteomics 18668040
MIRT934912 hsa-miR-124 CLIP-seq
MIRT934913 hsa-miR-506 CLIP-seq
MIRT934914 hsa-miR-548aa CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
GO ID Ontology Definition Evidence Reference
GO:0004090 Function Carbonyl reductase (NADPH) activity IDA 30031147
GO:0005515 Function Protein binding IPI 16189514, 25416956, 32296183, 32814053
GO:0005783 Component Endoplasmic reticulum IDA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0016491 Function Oxidoreductase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610410 16445 ENSG00000157379
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF00106 adh_short 8 209 short chain dehydrogenase Domain
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
Sequence length 313
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 34498498 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 37861541 Associate
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 21356389
★☆☆☆☆
Found in Text Mining only