• Gene id: 6715

Gene Summary

• Gene Symbol: SRD5A1   Gene   UCSC   Ensembl
• Aliases: S5AR 1
• Gene name: steroid 5 alpha-reductase 1
• Alternate names: 3-oxo-5-alpha-steroid 4-dehydrogenase 1, SR type 1, steroid 5-alpha-reductase type I, steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1),
• Gene location: 5p15.31 (6633321: 6669561)     Exons: 7     NC_000005.10
• Gene summary(Entrez): 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]
• OMIM: 184753

Protein Summary

• Protein general information: P18405  
  • Name: 3 oxo 5 alpha steroid 4 dehydrogenase 1 (EC 1.3.1.22) (SR type 1) (Steroid 5 alpha reductase 1) (S5AR 1)
  • Length: 259  
  • Mass: 29,459
• Sequence:

  MATATGVAEERLLAALAYLQCAVGCAVFARNRQTNSVYGRHALPSHRLRVPARAAWVVQELPSLALPLYQYASES
  APRLRSAPNCILLAMFLVHYGHRCLIYPFLMRGGKPMPLLACTMAIMFCTCNGYLQSRYLSHCAVYADDWVTDPR
  FLIGFGLWLTGMLINIHSDHILRNLRKPGDTGYKIPRGGLFEYVTAANYFGEIMEWCGYALASWSVQGAAFAFFT
  FCFLSGRAKEHHEWYLRKFEEYPKFRKIIIPFLF

• Structural information:
  • Interpro: IPR016636  IPR001104  
  • Prosite: PS50244
  • STRING: ENSP00000274192
• Other Databases: GeneCards:  SRD5A1  Malacards:  SRD5A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001655	urogenital system development	IEA	biological process
GO:0001889	liver development	IEA	biological process
GO:0003865	3-oxo-5-alpha-steroid 4-dehydrogenase activity	IDA	molecular function
GO:0003865	3-oxo-5-alpha-steroid 4-dehydrogenase activity	TAS	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006702	androgen biosynthetic process	TAS	biological process
GO:0007530	sex determination	NAS	biological process
GO:0008584	male gonad development	IEA	biological process
GO:0009055	electron carrier activity	TAS	molecular function
GO:0009267	cellular response to starvation	IEA	biological process
GO:0014850	response to muscle activity	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016101	diterpenoid metabolic process	IEA	biological process
GO:0021510	spinal cord development	IEA	biological process
GO:0021766	hippocampus development	IEA	biological process
GO:0021794	thalamus development	IEA	biological process
GO:0021854	hypothalamus development	IEA	biological process
GO:0021983	pituitary gland development	IEA	biological process
GO:0021987	cerebral cortex development	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0030539	male genitalia development	IEA	biological process
GO:0030540	female genitalia development	IEA	biological process
GO:0032354	response to follicle-stimulating hormone	IEA	biological process
GO:0032869	cellular response to insulin stimulus	IEA	biological process
GO:0033218	amide binding	IEA	molecular function
GO:0042428	serotonin metabolic process	IEA	biological process
GO:0042448	progesterone metabolic process	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0042747	circadian sleep/wake cycle, REM sleep	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0043209	myelin sheath	IEA	cellular component
GO:0047751	cholestenone 5-alpha-reductase activity	IEA	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0060348	bone development	IEA	biological process
GO:0060416	response to growth hormone	IEA	biological process
GO:0060992	response to fungicide	IEA	biological process
GO:0070402	NADPH binding	IEA	molecular function
GO:0070852	cell body fiber	IEA	cellular component
GO:0071320	cellular response to cAMP	IEA	biological process
GO:0071363	cellular response to growth factor stimulus	IEA	biological process
GO:0071392	cellular response to estradiol stimulus	IEA	biological process
GO:0071394	cellular response to testosterone stimulus	IEA	biological process
GO:0071549	cellular response to dexamethasone stimulus	IEA	biological process
GO:0071872	cellular response to epinephrine stimulus	IEA	biological process
GO:0001655	urogenital system development	IEA	biological process
GO:0001889	liver development	IEA	biological process
GO:0003865	3-oxo-5-alpha-steroid 4-dehydrogenase activity	IEA	molecular function
GO:0003865	3-oxo-5-alpha-steroid 4-dehydrogenase activity	IEA	molecular function
GO:0003865	3-oxo-5-alpha-steroid 4-dehydrogenase activity	IDA	molecular function
GO:0003865	3-oxo-5-alpha-steroid 4-dehydrogenase activity	TAS	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0006702	androgen biosynthetic process	IEA	biological process
GO:0006702	androgen biosynthetic process	TAS	biological process
GO:0007530	sex determination	NAS	biological process
GO:0007548	sex differentiation	IEA	biological process
GO:0008202	steroid metabolic process	IEA	biological process
GO:0008209	androgen metabolic process	IEA	biological process
GO:0008584	male gonad development	IEA	biological process
GO:0009055	electron carrier activity	TAS	molecular function
GO:0009267	cellular response to starvation	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0014850	response to muscle activity	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016101	diterpenoid metabolic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016627	oxidoreductase activity, acting on the CH-CH group of donors	IEA	molecular function
GO:0021510	spinal cord development	IEA	biological process
GO:0021766	hippocampus development	IEA	biological process
GO:0021794	thalamus development	IEA	biological process
GO:0021854	hypothalamus development	IEA	biological process
GO:0021983	pituitary gland development	IEA	biological process
GO:0021987	cerebral cortex development	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0030539	male genitalia development	IEA	biological process
GO:0030540	female genitalia development	IEA	biological process
GO:0031090	organelle membrane	IEA	cellular component
GO:0032354	response to follicle-stimulating hormone	IEA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0032869	cellular response to insulin stimulus	IEA	biological process
GO:0033218	amide binding	IEA	molecular function
GO:0033574	response to testosterone	IEA	biological process
GO:0042428	serotonin metabolic process	IEA	biological process
GO:0042448	progesterone metabolic process	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0042747	circadian sleep/wake cycle, REM sleep	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0043209	myelin sheath	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0043627	response to estrogen	IEA	biological process
GO:0047751	cholestenone 5-alpha-reductase activity	IEA	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0060348	bone development	IEA	biological process
GO:0060416	response to growth hormone	IEA	biological process
GO:0060992	response to fungicide	IEA	biological process
GO:0070402	NADPH binding	IEA	molecular function
GO:0070852	cell body fiber	IEA	cellular component
GO:0071320	cellular response to cAMP	IEA	biological process
GO:0071363	cellular response to growth factor stimulus	IEA	biological process
GO:0071392	cellular response to estradiol stimulus	IEA	biological process
GO:0071394	cellular response to testosterone stimulus	IEA	biological process
GO:0071407	cellular response to organic cyclic compound	IEA	biological process
GO:0071549	cellular response to dexamethasone stimulus	IEA	biological process
GO:0071872	cellular response to epinephrine stimulus	IEA	biological process
GO:0003865	3-oxo-5-alpha-steroid 4-dehydrogenase activity	IDA	molecular function
GO:0003865	3-oxo-5-alpha-steroid 4-dehydrogenase activity	TAS	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006702	androgen biosynthetic process	TAS	biological process
GO:0007530	sex determination	NAS	biological process
GO:0009055	electron carrier activity	TAS	molecular function

Diseases

Associated diseases	References
Cancer (lymphoma)	GAD: 18636124
Cancer (prostate)	GAD: 19574343
Cancer	GAD: 15136785
Cancer (epithelial ovarian)	GAD: 19064572
Cancer (breast)	GAD: 19846565
Peripheral vascular disease	GAD: 19246976
Hyperandrogenism	GAD: 16100771
Androgenetic alopecia	GAD: 12670724
Diabetes	GAD: 16155734
Bone diseases	GAD: 17218734
Autism	GAD: 19598235
Schizophrenia	GAD: 20672519
Chronic renal failure	GAD: 21085059
Polycystic ovary syndrome (PCOS)	INFBASE: 25117097
Familial male pseudohermaphroditism	MIK: 3740084
Familial male pseudohermaphroditism	MIK: 7379320
Hirsutism	GAD: 16849416
Cryptorchidism	MIK: 28606200
Familial male pseudohermaphroditism	MIK: 3740084

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
3740084	Familial male pseudohermaphroditism		Turkey	8 pseudovaginal perineoscrotal hypospadias	Male infertility
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq