Gene Gene information from NCBI Gene database.
Entrez ID 6715
Gene name Steroid 5 alpha-reductase 1
Gene symbol SRD5A1
Synonyms (NCBI Gene)
S5AR 1
Chromosome 5
Chromosome location 5p15.31
Summary Steroid 5-alpha-reductase (EC 1.3.99.5) catalyzes the conversion of testosterone into the more potent androgen, dihydrotestosterone (DHT). Also see SRD5A2 (MIM 607306).[supplied by OMIM, Mar 2008]
miRNA miRNA information provided by mirtarbase database.
298
miRTarBase ID miRNA Experiments Reference
MIRT024451 hsa-miR-215-5p Microarray 19074876
MIRT026876 hsa-miR-192-5p Microarray 19074876
MIRT711475 hsa-miR-148a-5p HITS-CLIP 19536157
MIRT711474 hsa-miR-28-5p HITS-CLIP 19536157
MIRT711473 hsa-miR-3139 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
63
GO ID Ontology Definition Evidence Reference
GO:0001655 Process Urogenital system development IEA
GO:0001889 Process Liver development IEA
GO:0003865 Function 3-oxo-5-alpha-steroid 4-dehydrogenase activity IBA
GO:0003865 Function 3-oxo-5-alpha-steroid 4-dehydrogenase activity IDA 17986282
GO:0003865 Function 3-oxo-5-alpha-steroid 4-dehydrogenase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
184753 11284 ENSG00000145545
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P18405
Protein name 3-oxo-5-alpha-steroid 4-dehydrogenase 1 (EC 1.3.1.22) (SR type 1) (Steroid 5-alpha-reductase 1) (S5AR 1)
Protein function Converts testosterone into 5-alpha-dihydrotestosterone and progesterone or corticosterone into their corresponding 5-alpha-3-oxosteroids. It plays a central role in sexual differentiation and androgen physiology.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02544 Steroid_dh 110 259 3-oxo-5-alpha-steroid 4-dehydrogenase Family
Tissue specificity TISSUE SPECIFICITY: Liver and prostate (at a low level).
Sequence
MATATGVAEERLLAALAYLQCAVGCAVFARNRQTNSVYGRHALPSHRLRVPARAAWVVQE
LPSLALPLYQYASESAPRLRSAPNCILLAMFLVHYGHRCLIYPFLMRGGKPMPLLACTMA
IMFCTCNGYLQSRYLSHCAVYADDWVTDPRFLIGFGLWLTGMLINIHSDHILRNLRKPGD
TGYKIPRGGLFEYVTAANYFGEIMEWCGYALASWSVQGAAFAFFTFCFLSGRAKEHHEWY
LRKFEEYPKFRKIIIPFLF
Sequence length 259
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Steroid hormone biosynthesis
Metabolic pathways
  Androgen biosynthesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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
DEPRESSIVE DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION 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
Alopecia Alopecia BEFREE 12670724, 22509838
★☆☆☆☆
Found in Text Mining only
Alopecia, Male Pattern Alopecia, Male Pattern BEFREE 12670724
★☆☆☆☆
Found in Text Mining only
Androgenetic Alopecia Androgenetic Alopecia BEFREE 12670724
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 24390875
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 24390875
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 21119710
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 15136785, 23499746, 25356777, 29084161, 30708032
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 21947678
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 15212687 Associate
★☆☆☆☆
Found in Text Mining only
Cerebellar Hypoplasia Cerebellar Hypoplasia BEFREE 23500598
★☆☆☆☆
Found in Text Mining only