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] See more...

Aliases for SRD5A1 Gene

Aliases for SRD5A1 Gene

  • Steroid 5 Alpha-Reductase 1 2 3 5
  • 3-Oxo-5-Alpha-Steroid 4-Dehydrogenase 1 2 3 4
  • Steroid-5-Alpha-Reductase, Alpha Polypeptide 1 (3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Alpha 1) 2 3
  • SR Type 1 3 4
  • S5AR 1 3 4
  • Steroid 5-Alpha-Reductase Type I 3
  • Steroid 5-Alpha-Reductase 1 4
  • EC 1.3.1.22 4
  • SRD5A1 5

External Ids for SRD5A1 Gene

Previous GeneCards Identifiers for SRD5A1 Gene

  • GC05P006782
  • GC05P006666
  • GC05P006686

Summaries for SRD5A1 Gene

Entrez Gene Summary for SRD5A1 Gene

  • 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]

GeneCards Summary for SRD5A1 Gene

SRD5A1 (Steroid 5 Alpha-Reductase 1) is a Protein Coding gene. Diseases associated with SRD5A1 include Prostatic Adenoma and Androgen Insensitivity Syndrome. Among its related pathways are Metabolism and Translation Non-genomic (rapid) action of Androgen Receptor. Gene Ontology (GO) annotations related to this gene include electron transfer activity and 3-oxo-5-alpha-steroid 4-dehydrogenase activity. An important paralog of this gene is SRD5A2.

UniProtKB/Swiss-Prot Summary for SRD5A1 Gene

  • 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.

Tocris Summary for SRD5A1 Gene

Gene Wiki entry for SRD5A1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SRD5A1 Gene

Genomics for SRD5A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SRD5A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J006631 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 269.2 +1.7 1710 7.9 BCLAF1 ZNF207 MYC ZNF600 ZMYM3 KLF9 POLR2A ZIC2 MXD4 CTCF NSUN2 SRD5A1 lnc-PAPD7-7 LINC02102 TENT4A LINC02145 LINC01018 MED10
GH05J006731 Enhancer 0.8 ENCODE dbSUPER 17.8 +100.0 100027 4 ZNF600 ZIC2 MAFF RXRA RARA ZNF316 EBF1 MAFK HNF4A MAFG TENT4A SRD5A1 LINC02102 NSUN2 HSALNG0039924 HSALNG0039918 ADCY2
GH05J006659 Enhancer 0.9 Ensembl ENCODE 16.7 +27.4 27374 2.4 BCLAF1 ATF3 YY1 POLR2A PRDM1 FOXA2 RXRA ZBTB33 EBF1 JUND piR-31199-279 SRD5A1 LINC01018 NSUN2 piR-39858-500 TENT4A
GH05J006711 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 6.4 +80.7 80658 5.4 ZNF207 MYC ZNF600 ZNF592 POLR2A BRCA1 NFIC ZIC2 ZBTB10 YY1 LINC02102 TENT4A HSALNG0039918 LINC02145 NSUN2 SRD5A1 ADCY2
GH05J006703 Promoter/Enhancer 1.2 Ensembl ENCODE dbSUPER 11.4 +71.1 71133 1.9 SP1 BCL11A IRF4 CTCF JUND BHLHE40 MYC MAX IKZF1 GLIS1 NSUN2 SRD5A1 TENT4A LINC02102 RF00017-4040 HSALNG0039917
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SRD5A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SRD5A1

Top Transcription factor binding sites by QIAGEN in the SRD5A1 gene promoter:
  • c-Myc
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2
  • Max1
  • Pax-5
  • RP58

Genomic Locations for SRD5A1 Gene

Latest Assembly
chr5:6,633,427-6,674,386
(GRCh38/hg38)
Size:
40,960 bases
Orientation:
Plus strand

Previous Assembly
chr5:6,633,553-6,674,499
(GRCh37/hg19 by Entrez Gene)
Size:
40,947 bases
Orientation:
Plus strand

chr5:6,633,456-6,669,675
(GRCh37/hg19 by Ensembl)
Size:
36,220 bases
Orientation:
Plus strand

Genomic View for SRD5A1 Gene

Genes around SRD5A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SRD5A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SRD5A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SRD5A1 Gene

Proteins for SRD5A1 Gene

  • Protein details for SRD5A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P18405-S5A1_HUMAN
    Recommended name:
    3-oxo-5-alpha-steroid 4-dehydrogenase 1
    Protein Accession:
    P18405
    Secondary Accessions:
    • B2R7Q1
    • Q9UHY4
    • Q9UP36
    • Q9UP37

    Protein attributes for SRD5A1 Gene

    Size:
    259 amino acids
    Molecular mass:
    29459 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SRD5A1 Gene

Post-translational modifications for SRD5A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SRD5A1 Gene

No data available for DME Specific Peptides for SRD5A1 Gene

Domains & Families for SRD5A1 Gene

Gene Families for SRD5A1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted membrane proteins

Protein Domains for SRD5A1 Gene

InterPro:
Blocks:
  • 3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal

Suggested Antigen Peptide Sequences for SRD5A1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60681 (B7Z4D8_HUMAN)
  • Steroid 5-alpha-reductase 1 (S5A1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P18405

UniProtKB/Swiss-Prot:

S5A1_HUMAN :
  • Belongs to the steroid 5-alpha reductase family.
Family:
  • Belongs to the steroid 5-alpha reductase family.
genes like me logo Genes that share domains with SRD5A1: view

Function for SRD5A1 Gene

Molecular function for SRD5A1 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 3-oxo-5alpha-steroid + NADP(+) = a 3-oxo-Delta(4)-steroid + H(+) + NADPH; Xref=Rhea:RHEA:54384, ChEBI:CHEBI:13601, ChEBI:CHEBI:15378, ChEBI:CHEBI:47909, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.3.1.22; Evidence={ECO:0000269|PubMed:2339109};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=androst-4-ene-3,17-dione + H(+) + NADPH = 5alpha-androstan-3,17-dione + NADP(+); Xref=Rhea:RHEA:50816, ChEBI:CHEBI:15378, ChEBI:CHEBI:15994, ChEBI:CHEBI:16422, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; Evidence={ECO:0000269|PubMed:2339109};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5alpha-pregnane-3,20-dione + NADP(+) = H(+) + NADPH + progesterone; Xref=Rhea:RHEA:21952, ChEBI:CHEBI:15378, ChEBI:CHEBI:17026, ChEBI:CHEBI:28952, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.3.1.22; Evidence={ECO:0000269|PubMed:2339109};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=17beta-hydroxy-5alpha-androstan-3-one + NADP(+) = H(+) + NADPH + testosterone; Xref=Rhea:RHEA:50820, ChEBI:CHEBI:15378, ChEBI:CHEBI:16330, ChEBI:CHEBI:17347, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.3.1.22; Evidence={ECO:0000269|PubMed:2339109};.
UniProtKB/Swiss-Prot Induction:
Its expression is regulated by androgens such as testosterone.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=3.6 uM for testosterone {ECO:0000269|PubMed:2339109}; KM=1.7 uM for androstenedione {ECO:0000269|PubMed:2339109}; KM=0.8 uM for progesterone {ECO:0000269|PubMed:2339109}; Vmax=3.6 nmol/min/mg enzyme toward testosterone {ECO:0000269|PubMed:2339109}; Vmax=5.3 nmol/min/mg enzyme toward androstenedione {ECO:0000269|PubMed:2339109}; Vmax=5.0 nmol/min/mg enzyme toward progesterone {ECO:0000269|PubMed:2339109}; pH dependence: Optimally active at alkaline pHs.;
GENATLAS Biochemistry:
steroid 5 alpha-reductase (3-oxo-5 alpha-steroid delta 4-dehydrogenase) alpha polypeptide 1,catalyzing the conversion of testosterone to dihydrotestosterone

Enzyme Numbers (IUBMB) for SRD5A1 Gene

Phenotypes From GWAS Catalog for SRD5A1 Gene

Gene Ontology (GO) - Molecular Function for SRD5A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003865 3-oxo-5-alpha-steroid 4-dehydrogenase activity IBA,IDA 17986282
GO:0009055 electron transfer activity TAS 1686016
GO:0016491 oxidoreductase activity IBA 21873635
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors IEA --
GO:0033218 amide binding IEA --
genes like me logo Genes that share ontologies with SRD5A1: view
genes like me logo Genes that share phenotypes with SRD5A1: view

Animal Models for SRD5A1 Gene

MGI Knock Outs for SRD5A1:

miRNA for SRD5A1 Gene

miRTarBase miRNAs that target SRD5A1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SRD5A1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SRD5A1 Gene

Localization for SRD5A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SRD5A1 Gene

Microsome membrane. Multi-pass membrane protein. Endoplasmic reticulum membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SRD5A1 gene
Compartment Confidence
extracellular 3
plasma membrane 2
mitochondrion 2
nucleus 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1
lysosome 0

Gene Ontology (GO) - Cellular Components for SRD5A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SRD5A1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SRD5A1 Gene

Pathways & Interactions for SRD5A1 Gene

genes like me logo Genes that share pathways with SRD5A1: view

Pathways by source for SRD5A1 Gene

1 KEGG pathway for SRD5A1 Gene
2 GeneGo (Thomson Reuters) pathways for SRD5A1 Gene
  • Transcription Androgen Receptor nuclear signaling
  • Translation Non-genomic (rapid) action of Androgen Receptor

Gene Ontology (GO) - Biological Process for SRD5A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001655 urogenital system development IEA --
GO:0001889 liver development IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process IEA,IBA 21873635
GO:0006702 androgen biosynthetic process IEA,TAS --
genes like me logo Genes that share ontologies with SRD5A1: view

No data available for SIGNOR curated interactions for SRD5A1 Gene

Drugs & Compounds for SRD5A1 Gene

(70) Drugs for SRD5A1 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dutasteride Approved, Investigational Pharma Target, inhibitor 5-alpha-reductase inhibitor 124
Finasteride Approved Pharma Target, inhibitor Inhibitor of Type II 5α-reductase 73
Levonorgestrel Approved, Investigational Pharma Target, inhibitor, binder Synthetic progesterone analog 387
Spironolactone Approved Pharma Target, antagonist Mineralocorticoid receptor antagonist 240
Testosterone Approved, Investigational Pharma Endogenous androgen receptor agonist 711

(47) Additional Compounds for SRD5A1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
7a,12a-Dihydroxy-5a-cholestan-3-one
7a,12a-Dihydroxy-cholestene-3-one
  • 7-a,12-a-Dihydroxy-4-cholesten-3-one
  • 7-a,12-a-Dihydroxycholest-4-en-3-one
  • 7-a,12-alpha-Dihydroxy-4-cholesten-3-one
  • 7-a,12-alpha-Dihydroxycholest-4-en-3-one
  • 7-alpha,12-alpha-Dihydroxy-4-cholesten-3-one
Testosterone sulfate
  • Testosterone-17beta-sulfate
  • Testosterone-17b-sulfate
  • Testosterone-17b-sulfuric acid
  • Testosterone-17b-sulphate
  • Testosterone-17b-sulphuric acid
651-45-6

(2) Tocris Compounds for SRD5A1 Gene

Compound Action Cas Number
Auranofin Thioredoxin reductase inhibitor; induces MPT 34031-32-8
PX 12 Thioredoxin-1 inhibitor 141400-58-0

(3) ApexBio Compounds for SRD5A1 Gene

Compound Action Cas Number
Dutasteride 5-alpha-reductase inhibitor 164656-23-9
Finasteride Inhibitor of Type II 5α-reductase 98319-26-7
Finasteride acetate 5α-reductase inhibitor 222989-99-3
genes like me logo Genes that share compounds with SRD5A1: view

Drug products for research

Transcripts for SRD5A1 Gene

mRNA/cDNA for SRD5A1 Gene

3 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SRD5A1

Alternative Splicing Database (ASD) splice patterns (SP) for SRD5A1 Gene

No ASD Table

Relevant External Links for SRD5A1 Gene

GeneLoc Exon Structure for
SRD5A1

Expression for SRD5A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SRD5A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SRD5A1 Gene

This gene is overexpressed in Esophagus - Mucosa (x4.8) and Liver (x4.7).

Protein differential expression in normal tissues from HIPED for SRD5A1 Gene

This gene is overexpressed in NK cells (65.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SRD5A1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SRD5A1

SOURCE GeneReport for Unigene cluster for SRD5A1 Gene:

Hs.552

mRNA Expression by UniProt/SwissProt for SRD5A1 Gene:

P18405-S5A1_HUMAN
Tissue specificity: Liver and prostate (at a low level).

Evidence on tissue expression from TISSUES for SRD5A1 Gene

  • Nervous system(4.9)
  • Adrenal gland(4.5)
  • Eye(4.1)
  • Liver(2.8)
  • Skin(2.2)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with SRD5A1: view

Primer products for research

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SRD5A1 Gene

Orthologs for SRD5A1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SRD5A1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SRD5A1 29 30
  • 99.61 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SRD5A1 29 30
  • 79.1 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SRD5A1 29 30
  • 76.46 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Srd5a1 29 16 30
  • 72.13 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Srd5a1 29
  • 71.66 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia SRD5A1 30
  • 56 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SRD5A1 30
  • 51 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SRD5A1 29 30
  • 65.22 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SRD5A1 30
  • 49 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia srd5a1 29
  • 57.66 (n)
Zebrafish
(Danio rerio)
Actinopterygii srd5a1 29 30
  • 56.59 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea F42F12.3 30 31
  • 41 (a)
OneToMany
F19H6.4 30 31
  • 38 (a)
OneToMany
ZK1251.3 30 31
  • 31 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons DET2 29
  • 51.25 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0851600 29
  • 48.23 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC9.08c 29
  • 47.6 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8786 30
  • 40 (a)
OneToOne
Species where no ortholog for SRD5A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SRD5A1 Gene

ENSEMBL:
Gene Tree for SRD5A1 (if available)
TreeFam:
Gene Tree for SRD5A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SRD5A1: view image
Alliance of Genome Resources:
Additional Orthologs for SRD5A1

Paralogs for SRD5A1 Gene

Paralogs for SRD5A1 Gene

(1) SIMAP similar genes for SRD5A1 Gene using alignment to 5 proteins:

  • S5A1_HUMAN
  • B7Z4D8_HUMAN
  • D6RDL6_HUMAN
  • D6RG03_HUMAN
  • F5GXK9_HUMAN

Pseudogenes.org Pseudogenes for SRD5A1 Gene

genes like me logo Genes that share paralogs with SRD5A1: view

Variants for SRD5A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SRD5A1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs142854865 Likely Benign: not provided 6,651,908(+) G/A
NM_001047.4(SRD5A1):c.360G>A (p.Ala120=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON
rs523854 Benign: not provided 6,662,832(+) C/T
NM_001047.4(SRD5A1):c.579C>T (p.Tyr193=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs8192208 Benign: not provided 6,656,094(+) A/G
NM_001047.4(SRD5A1):c.477A>G (p.Leu159=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SRD5A1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SRD5A1 Gene

Variant ID Type Subtype PubMed ID
dgv1571e212 CNV loss 25503493
esv275079 CNV gain+loss 21479260
nsv4696 CNV insertion 18451855

Variation tolerance for SRD5A1 Gene

Residual Variation Intolerance Score: 20% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.99; 20.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SRD5A1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SRD5A1
Leiden Open Variation Database (LOVD)
SRD5A1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SRD5A1 Gene

Disorders for SRD5A1 Gene

MalaCards: The human disease database

(20) MalaCards diseases for SRD5A1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
prostatic adenoma
  • adenoma - prostate
androgen insensitivity syndrome
  • ais
androgenic alopecia
  • alopecia androgenetica, male pattern baldness
impotence
  • erectile dysfunction
gynecomastia
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SRD5A1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SRD5A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SRD5A1 Gene

Publications for SRD5A1 Gene

  1. Genetic variation in the progesterone receptor and metabolism pathways and hormone therapy in relation to breast cancer risk. (PMID: 19846565) Reding KW … Malone KE (American journal of epidemiology 2009) 3 22 40
  2. Polymorphisms of steroid 5-alpha-reductase type I (SRD5A1) gene are associated to peripheral arterial disease. (PMID: 19246976) Signorelli SS … Condorelli DF (Journal of endocrinological investigation 2008) 3 22 40
  3. Pharmacologic basis for the enhanced efficacy of dutasteride against prostatic cancers. (PMID: 16818707) Xu Y … Isaacs JT (Clinical cancer research : an official journal of the American Association for Cancer Research 2006) 3 22 25
  4. Variants in the 5alpha-reductase type 1 and type 2 genes are associated with polycystic ovary syndrome and the severity of hirsutism in affected women. (PMID: 16849416) Goodarzi MO … Azziz R (The Journal of clinical endocrinology and metabolism 2006) 3 22 40
  5. Androgenic correlates of genetic variation in the gene encoding 5alpha-reductase type 1. (PMID: 16155734) Ellis JA … Harrap SB (Journal of human genetics 2005) 3 22 40

Products for SRD5A1 Gene

Sources for SRD5A1 Gene