Endometriosis Knowledgebase

Search Result

Gene id

6715

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 (54224787: 54151600) Exons: 8 NC_000018.10

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

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

Sequence

MATATGVAEERLLAALAYLQCAVGCAVFARNRQTNSVYGRHALPSHRLRVPARAAWVVQELPSLALPLYQYASES
APRLRSAPNCILLAMFLVHYGHRCLIYPFLMRGGKPMPLLACTMAIMFCTCNGYLQSRYLSHCAVYADDWVTDPR
FLIGFGLWLTGMLINIHSDHILRNLRKPGDTGYKIPRGGLFEYVTAANYFGEIMEWCGYALASWSVQGAAFAFFT
FCFLSGRAKEHHEWYLRKFEEYPKFRKIIIPFLF

Structural information

Interpro:	IPR016636 IPR001104
Prosite:	PS50244
Pfam:	PF02544
STRING:	ENSP00000274192;

Other Databases

GeneCards: SRD5A1; Malacards: SRD5A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001655	urogenital system develop ment	IEA	biological_process
GO:0001889	liver development	IEA	biological_process
GO:0003865	3-oxo-5-alpha-steroid 4-d ehydrogenase activity	IDA	molecular_function
GO:0003865	3-oxo-5-alpha-steroid 4-d ehydrogenase activity	TAS	molecular_function
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0006702	androgen biosynthetic pro cess	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 star vation	IEA	biological_process
GO:0014850	response to muscle activi ty	IEA	biological_process
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016101	diterpenoid metabolic pro cess	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 developme nt	IEA	biological_process
GO:0021987	cerebral cortex developme nt	IEA	biological_process
GO:0030154	cell differentiation	IEA	biological_process
GO:0030539	male genitalia developmen t	IEA	biological_process
GO:0030540	female genitalia developm ent	IEA	biological_process
GO:0032354	response to follicle-stim ulating hormone	IEA	biological_process
GO:0032869	cellular response to insu lin stimulus	IEA	biological_process
GO:0033218	amide binding	IEA	molecular_function
GO:0042428	serotonin metabolic proce ss	IEA	biological_process
GO:0042448	progesterone metabolic pr ocess	IEA	biological_process
GO:0042493	response to drug	IEA	biological_process
GO:0042747	circadian sleep/wake cycl e, 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-redu ctase activity	IEA	molecular_function
GO:0048471	perinuclear region of cyt oplasm	IEA	cellular_component
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0060348	bone development	IEA	biological_process
GO:0060416	response to growth hormon e	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 grow th factor stimulus	IEA	biological_process
GO:0071392	cellular response to estr adiol stimulus	IEA	biological_process
GO:0071394	cellular response to test osterone stimulus	IEA	biological_process
GO:0071549	cellular response to dexa methasone stimulus	IEA	biological_process
GO:0071872	cellular response to epin ephrine stimulus	IEA	biological_process
GO:0001655	urogenital system develop ment	IEA	biological_process
GO:0001889	liver development	IEA	biological_process
GO:0003865	3-oxo-5-alpha-steroid 4-d ehydrogenase activity	IEA	molecular_function
GO:0003865	3-oxo-5-alpha-steroid 4-d ehydrogenase activity	IEA	molecular_function
GO:0003865	3-oxo-5-alpha-steroid 4-d ehydrogenase activity	IDA	molecular_function
GO:0003865	3-oxo-5-alpha-steroid 4-d ehydrogenase 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 mem brane	IEA	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0006629	lipid metabolic process	IEA	biological_process
GO:0006694	steroid biosynthetic proc ess	IEA	biological_process
GO:0006702	androgen biosynthetic pro cess	IEA	biological_process
GO:0006702	androgen biosynthetic pro cess	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 proces s	IEA	biological_process
GO:0008584	male gonad development	IEA	biological_process
GO:0009055	electron carrier activity	TAS	molecular_function
GO:0009267	cellular response to star vation	IEA	biological_process
GO:0014070	response to organic cycli c compound	IEA	biological_process
GO:0014850	response to muscle activi ty	IEA	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016101	diterpenoid metabolic pro cess	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 developme nt	IEA	biological_process
GO:0021987	cerebral cortex developme nt	IEA	biological_process
GO:0030154	cell differentiation	IEA	biological_process
GO:0030539	male genitalia developmen t	IEA	biological_process
GO:0030540	female genitalia developm ent	IEA	biological_process
GO:0031090	organelle membrane	IEA	cellular_component
GO:0032354	response to follicle-stim ulating hormone	IEA	biological_process
GO:0032355	response to estradiol	IEA	biological_process
GO:0032869	cellular response to insu lin stimulus	IEA	biological_process
GO:0033218	amide binding	IEA	molecular_function
GO:0033574	response to testosterone	IEA	biological_process
GO:0042428	serotonin metabolic proce ss	IEA	biological_process
GO:0042448	progesterone metabolic pr ocess	IEA	biological_process
GO:0042493	response to drug	IEA	biological_process
GO:0042747	circadian sleep/wake cycl e, REM sleep	IEA	biological_process
GO:0043025	neuronal cell body	IEA	cellular_component
GO:0043209	myelin sheath	IEA	cellular_component
GO:0043231	intracellular membrane-bo unded organelle	IEA	cellular_component
GO:0043231	intracellular membrane-bo unded organelle	IEA	cellular_component
GO:0043627	response to estrogen	IEA	biological_process
GO:0047751	cholestenone 5-alpha-redu ctase activity	IEA	molecular_function
GO:0048471	perinuclear region of cyt oplasm	IEA	cellular_component
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0060348	bone development	IEA	biological_process
GO:0060416	response to growth hormon e	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 grow th factor stimulus	IEA	biological_process
GO:0071392	cellular response to estr adiol stimulus	IEA	biological_process
GO:0071394	cellular response to test osterone stimulus	IEA	biological_process
GO:0071407	cellular response to orga nic cyclic compound	IEA	biological_process
GO:0071549	cellular response to dexa methasone stimulus	IEA	biological_process
GO:0071872	cellular response to epin ephrine stimulus	IEA	biological_process
GO:0003865	3-oxo-5-alpha-steroid 4-d ehydrogenase activity	IDA	molecular_function
GO:0003865	3-oxo-5-alpha-steroid 4-d ehydrogenase activity	TAS	molecular_function
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0006702	androgen biosynthetic pro cess	TAS	biological_process
GO:0007530	sex determination	NAS	biological_process
GO:0009055	electron carrier activity	TAS	molecular_function

KEGG pathways

hsa00140 Steroid hormone biosynthesis

Diseases

Associated diseases	References
Schizophrenia	GAD20672519
Prostate cancer	GAD20056642
Polycystic ovary syndrome	GAD20200332
Peripheral vascular diseases	GAD19246976
Ovarian cancer	GAD19064572
Lymphoma	GAD18636124
Hyperandrogenism	GAD16100771
Hirsutism	GAD16849416
Diabetes	GAD20628086
Chronic renal failure	GAD21085059
Breast cancer	GAD20634197
Breast cancer	GAD20214802
Breast cancer	GAD19846565
Autism	GAD19598235
Androgenetic alopecia	GAD12670724
Endometriosis	PubMed23183084

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
23183084	Endometrio sis (ovari an)					SRD5A1 AKR1C�	Show abstract