Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SRD5A1 Gene

Aliases for SRD5A1 Gene

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

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 Prostate Disease. Among its related pathways are Steroid hormone biosynthesis and Transcription Androgen Receptor nuclear signaling. GO annotations related to this gene include electron carrier activity and 3-oxo-5-alpha-steroid 4-dehydrogenase activity. An important paralog of this gene is SRD5A2.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for SRD5A1 Gene

Genomics for SRD5A1 Gene

Regulatory Elements for SRD5A1 Gene

Enhancers for SRD5A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G006731 1.2 Ensembl ENCODE dbSUPER 17.8 +100.1 100096 4.1 JUN EBF1 ZIC2 RARA ZNF121 ZNF316 GATA2 HNF4G FOS ZNF600 PAPD7 SRD5A1 LINC02102 NSUN2 PIR57279
GH05G006631 1.1 ENCODE 19.3 +1.8 1795 7.9 HDGF FOXA2 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF207 KLF13 SP3 PAPD7 SRD5A1 NSUN2 LINC01018 LINC02102 MED10 GC05M006647
GH05G006703 1.3 Ensembl ENCODE dbSUPER 11.4 +71.2 71217 1.9 CTCF KLF1 KLF17 MAX UBTF EGR1 EED SCRT2 FOS ETV6 SRD5A1 NSUN2 PAPD7 LINC02102 GC05P006690
GH05G006659 0.7 ENCODE 16.6 +27.2 27198 1.4 PKNOX1 BHLHE40 MAX RAD21 FOXA1 YY1 GABPA JUND ATF3 POLR2A SRD5A1 LINC01018 GC05P006675 GC05M006647
GH05G006711 1.4 ENCODE dbSUPER 6.4 +80.6 80601 5.1 HDGF FOXA2 CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 PAPD7 LINC02145 LINC02102 SRD5A1 PIR57279
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SRD5A1 on UCSC Golden Path with GeneCards custom track

Promoters for SRD5A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000177784 -43 2601 MLX CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF207 KLF13 SP3 MXD4

Genomic Location for SRD5A1 Gene

Chromosome:
5
Start:
6,633,343 bp from pter
End:
6,674,386 bp from pter
Size:
41,044 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

Suggested Antigen Peptide Sequences for SRD5A1 Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for SRD5A1 Gene

Function for SRD5A1 Gene

Molecular function for SRD5A1 Gene

GENATLAS Biochemistry:
steroid 5 alpha-reductase (3-oxo-5 alpha-steroid delta 4-dehydrogenase) alpha polypeptide 1,catalyzing the conversion of testosterone to dihydrotestosterone
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimally active at alkaline pHs.;
UniProtKB/Swiss-Prot CatalyticActivity:
A 3-oxo-5-alpha-steroid + NADP(+) = a 3-oxo-Delta(4)-steroid + NADPH.
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 Induction:
Its expression is regulated by androgens such as testosterone.

Enzyme Numbers (IUBMB) 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 TAS --
GO:0009055 electron carrier activity TAS 1686016
GO:0016491 oxidoreductase activity IEA --
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:

Animal Model Products

miRNA for SRD5A1 Gene

miRTarBase miRNAs that target SRD5A1

Inhibitory RNA Products

Clone Products

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
endoplasmic reticulum 4
extracellular 2
plasma membrane 1
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1
lysosome 1

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

Pathways & Interactions for SRD5A1 Gene

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

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 --
GO:0006702 androgen biosynthetic process 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Finasteride Approved Pharma inhibitor, Target Inhibitor of Type II 5α-reductase, Type II 5alpha-reductase inhibitor 67
Dutasteride Approved, Investigational Pharma inhibitor, Target 5-alpha-reductase inhibitor 114
Levonorgestrel Approved, Investigational Pharma Agonist, binder, Target, inhibitor Synthetic progesterone analog 301
Spironolactone Approved Pharma Antagonist, Target, antagonist 232
Testosterone Approved, Investigational Pharma Endogenous androgen receptor agonist 563

(55) Additional Compounds for SRD5A1 Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
7a,12a-Dihydroxy-5a-cholestan-3-one
  • 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
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
Testosterone sulfate
  • 17-O-Sulfotestosterone
  • 17beta-(Sulfooxy)androst-4-en-3-one
  • Testosterone 17-sulfate
  • Testosterone 17-sulphate
  • Testosterone 17b-sulfate
651-45-6

(5) Tocris Compounds for SRD5A1 Gene

Compound Action Cas Number
Auranofin Thioredoxin reductase inhibitor; induces MPT 34031-32-8
Finasteride Type II 5alpha-reductase inhibitor 98319-26-7
P1 Protein disulfide isomerase (PDI) inhibitor 1461648-55-4
PACMA 31 Irreversible protein disulfide isomerase (PDI) inhibitor 1401089-31-3
PMX 464 Putative inhibitor of the Trx-TrxR system; antiproliferative 485842-97-5

(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

Transcripts for SRD5A1 Gene

Unigene Clusters for SRD5A1 Gene

Steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1):
Representative Sequences:

Inhibitory RNA Products

Clone Products

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

No ASD Table

Relevant External Links for SRD5A1 Gene

GeneLoc Exon Structure for
SRD5A1
ECgene alternative splicing isoforms for
SRD5A1

Expression for SRD5A1 Gene

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

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, PaxDb, MaxQB, and MOPED for SRD5A1 Gene



NURSA nuclear receptor signaling pathways regulating expression of SRD5A1 Gene:

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(4.4)
  • Eye(4)
  • Liver(2.4)
genes like me logo Genes that share expression patterns with SRD5A1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 35 34
  • 99.61 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SRD5A1 35 34
  • 79.1 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SRD5A1 35 34
  • 76.46 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Srd5a1 35 16 34
  • 72.13 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Srd5a1 34
  • 71.66 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SRD5A1 35
  • 56 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SRD5A1 35
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves SRD5A1 35 34
  • 65.22 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SRD5A1 35
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia srd5a1 34
  • 57.66 (n)
zebrafish
(Danio rerio)
Actinopterygii srd5a1 35 34
  • 56.59 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F42F12.3 36 35
  • 43 (a)
F19H6.4 36 35
  • 40 (a)
ZK1251.3 36 35
  • 33 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons DET2 34
  • 51.25 (n)
rice
(Oryza sativa)
Liliopsida Os01g0851600 34
  • 48.23 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC9.08c 34
  • 47.6 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8786 35
  • 40 (a)
OneToOne
Species where no ortholog for SRD5A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for SRD5A1 Gene

Paralogs for SRD5A1 Gene

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

Pseudogenes.org Pseudogenes for SRD5A1 Gene

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

Variants for SRD5A1 Gene

Sequence variations from dbSNP and Humsavar for SRD5A1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs10062086 Likely benign 6,632,929(+) GCGTC(C/T)TCCGG nc-transcript-variant, upstream-variant-2KB, reference, synonymous-codon
rs10076470 Likely benign 6,632,762(+) CTGAG(A/G)AAGGA intron-variant, upstream-variant-2KB
rs181415619 Likely benign 6,632,958(+) CCGCC(A/G)ACCCC nc-transcript-variant, upstream-variant-2KB, reference, missense
rs184594943 Likely benign 6,632,959(+) CGCCG(A/G)CCCCG nc-transcript-variant, upstream-variant-2KB, reference, synonymous-codon
rs190264173 Likely benign 6,633,006(+) AGCAC(G/T)CAGAA nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime

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)

Relevant External Links for SRD5A1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SRD5A1

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

Disorders for SRD5A1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for SRD5A1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
prostatic adenoma
  • adenoma - prostate
prostate disease
  • prostate diseases
5-alpha reductase deficiency
  • pseudovaginal perineoscrotal hypospadias
46xx sex reversal 1
  • 46,xx sex reversal 1
androgen insensitivity, partial, with or without breast cancer
  • androgen insensitivity, partial
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SRD5A1

Genetic Association Database (GAD)
SRD5A1
Human Genome Epidemiology (HuGE) Navigator
SRD5A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SRD5A1
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 K.W. … Malone K.E. (Am. J. Epidemiol. 2009) 3 22 46 64
  2. Polymorphisms of steroid 5-alpha-reductase type I (SRD5A1) gene are associated to peripheral arterial disease. (PMID: 19246976) Signorelli S.S. … Condorelli D.F. (J. Endocrinol. Invest. 2008) 3 22 46 64
  3. Pharmacologic basis for the enhanced efficacy of dutasteride against prostatic cancers. (PMID: 16818707) Xu Y. … Isaacs J.T. (Clin. Cancer Res. 2006) 3 22 25 64
  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 M.O. … Azziz R. (J. Clin. Endocrinol. Metab. 2006) 3 22 46 64
  5. Gene analysis of steroid 5 alpha-reductase 1 in hyperandrogenic women. (PMID: 16100771) EminoviA8 I. … HeljiA8 B. (Croat. Med. J. 2005) 3 22 46 64

Products for SRD5A1 Gene

Sources for SRD5A1 Gene

Content
Loading form....