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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SRD5A1 Gene

protein-coding GIFtS: 60
GCID: GC05P006686

steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5...

Explore 89 diseases affiliated with
SRD5A1 via

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Steroid-5-Alpha-Reductase, Alpha Polypeptide 1 (3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Alpha 1)¹ ²		3-Oxo-5-Alpha-Steroid 4-Dehydrogenase 1²
Steroid 5-Alpha-Reductase 1² ³		5-Alpha Reductase²
S5AR 1² ³		Steroid 5-Alpha-Reductase Type I²
SR Type 1² ³		EC 1.3.1.22³
3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Alpha 1²

External Ids:	HGNC: 11284¹	Entrez Gene: 6715²	Ensembl: ENSG00000145545⁷	OMIM: 184753⁵	UniProtKB: P18405³

Export aliases for SRD5A1 gene to outside databases

Previous GC identifers: GC05P006782 GC05P006666

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SRD5A1:

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)

UniProtKB/Swiss-Prot: S5A1_HUMAN, P18405

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

Gene Wiki entry for SRD5A1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000005.9 NC_018916.1 NT_006576.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SRD5A1 gene promoter:
Max1 COUP-TF1 RP58 Pax-5 COUP HNF-4alpha2 HNF-4alpha1 COUP-TF c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SRD5A1 promoter sequence

Search SABiosciences Chromatin IP Primers for SRD5A1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SRD5A1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5p15 Ensembl cytogenetic band: 5p15.31 HGNC cytogenetic band: 5p15.31

SRD5A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SRD5A1 gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05P006686: view genomic region (about GC identifiers)

Start:	6,633,456 bp from pter	End:	6,669,675 bp from pter
Size:	36,220 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: S5A1_HUMAN, P18405 (See protein sequence)

Recommended Name: 3-oxo-5-alpha-steroid 4-dehydrogenase 1

Size: 259 amino acids; 29459 Da

Subcellular location: Microsome membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass

membrane protein (Potential)

Secondary accessions: B2R7Q1 Q9UHY4 Q9UP36 Q9UP37

Explore the universe of human proteins at neXtProt for SRD5A1: NX_P18405

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P18405

SRD5A1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001038.1

ENSEMBL proteins:

ENSP00000274192 ENSP00000425330 ENSP00000421342 ENSP00000440186 ENSP00000446275

Reactome Protein details: P18405
Human Recombinant Protein Products:

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	Browse Proteins at Uscn

Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	--	--
GO:0005789	endoplasmic reticulum membrane	TAS	--
GO:0005792	microsome	--	--
GO:0016021	integral to membrane	IEA	--
GO:0043025	neuronal cell body	--	--

SRD5A1 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SRD5A1 for domains About GeneDecksing

2 InterPro domains/families:

IPR001104 3-oxo-5_a-steroid_4-DH_C

IPR016636 3-oxo-5-alpha-steroid_4-DH

Graphical View of Domain Structure for InterPro Entry P18405

ProtoNet protein and cluster: P18405

1 Blocks protein family: IPB001104 3-oxo-5-alpha-steroid 4-dehydrogenase

UniProtKB/Swiss-Prot: S5A1_HUMAN, P18405

Similarity: Belongs to the steroid 5-alpha reductase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: S5A1_HUMAN, P18405

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

Catalytic activity: A 3-oxo-5-alpha-steroid + NADP(+) = a 3-oxo-Delta(4)-steroid + NADPH

Biophysicochemical properties: pH dependence: Optimally active at alkaline pHs;

Induction: Its expression is regulated by androgens such as testosterone

Genatlas biochemistry entry for SRD5A1:

steroid 5 alpha-reductase (3-oxo-5 alpha-steroid delta 4-dehydrogenase) alpha polypeptide 1,catalyzing the conversion

of testosterone to dihydrotestosterone

Enzyme Number (IUBMB): EC 1.3.1.22¹

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SRD5A1

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003865	3-oxo-5-alpha-steroid 4-dehydrogenase activity	IDA	17986282
GO:0009055	electron carrier activity	TAS	1686016
GO:0016627	oxidoreductase activity, acting on the CH-CH group of donors	--	--
GO:0033218	amide binding	--	--
GO:0047751	cholestenone 5-alpha-reductase activity	IEA	--

SRD5A1 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for SRD5A1:

Increased gamma-H2AX phosphory

Synthetic lethal with Ras

Animal Models:
Mouse knock-out Srd5a1^tm1Mahe for SRD5A1
2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Srd5a1):

endocrine/exocrine gland

reproductive system

SRD5A1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Translation_Non-genomic (rapid) action of Androgen Receptor

Translation_Non-genomic (rapid) action of Androgen Receptor

1.00

Translation Non-genomic (rapid) action of Androgen Receptor

0.99

Metabolism

Metabolism

1.00

Metabolism of lipids and lipoproteins

0.34

Androgen biosynthesis

Androgen biosynthesis

1.00

androgen biosynthesis

0.75

Transcription_Androgen Receptor nuclear signaling

Transcription_Androgen Receptor nuclear signaling

1.00

Transcription Androgen Receptor nuclear signaling

0.99

Vitamin D (calciferol) metabolism

Metabolism of steroid hormones and vitamin D

0.27

Steroid hormones

0.27

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for SRD5A1

	Transcription Androgen Receptor nuclear signaling
	Translation Non-genomic (rapid) action of Androgen Receptor

2 GeneGo (Thomson Reuters) Pathways for SRD5A1

	Transcription Androgen Receptor nuclear signaling
	Translation Non-genomic (rapid) action of Androgen Receptor

1 BioSystems Pathway for SRD5A1

androgen biosynthesis

5 Reactome Pathways for SRD5A1

	Metabolism of steroid hormones and vitamin D
	Metabolism
	Steroid hormones
	Androgen biosynthesis
	Metabolism of lipids and lipoproteins

1 Kegg Pathway (Kegg details for SRD5A1):

Steroid hormone biosynthesis

SRD5A1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SRD5A1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/33 Interacting proteins for SRD5A1 (ENSP00000274192⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 33)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
AKR1C3	ENSP00000369927⁴	STRING: ENSP00000369927
AKR1C4	ENSP00000263126⁴	STRING: ENSP00000263126
AKR1D1	ENSP00000242375⁴	STRING: ENSP00000242375
CYP11B1	ENSP00000292427⁴	STRING: ENSP00000292427
CYP19A1	ENSP00000260433⁴	STRING: ENSP00000260433

About this table

Gene Ontology (GO): 5/43 biological process terms (GO ID links to tree view) (see all 43): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001655	urogenital system development	--	--
GO:0001889	liver development	--	--
GO:0006629	lipid metabolic process	--	--
GO:0006694	steroid biosynthetic process	--	--
GO:0006702	androgen biosynthetic process	TAS	--

SRD5A1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SRD5A1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for SRD5A1 available from Tocris Bioscience About this table

Compound	Action	CAS #
Finasteride	Type II 5alpha-reductase inhibitor	[98319-26-7]

9 HMDB Compounds for SRD5A1 About this table

Compound	Synonyms	CAS #	PubMed Ids
7a,12a-Dihydroxy-5a-cholestan-3-one	7a,12a-Dihydroxy-5a-cholestan-3-one	--	--
7a,12a-Dihydroxy-cholestene-3-one	7-alpha,12-alpha-dihydroxy-4-cholesten-3-one (see all 7)	--	--
Androst-5-ene-3b,17b-diol	3beta,17beta-Dihydroxy-5-androstene (see all 13)	521-17-5	--
Androstanedione	5a-Androsta-3,17-dione (see all 11)	846-46-8	--
Androstenedione	(4)-Androsten-3,17-dione (see all 14)	63-05-8	--
Dihydrotestosterone	17-Hydroxy-androstan-3-one (see all 31)	521-18-6	--
Finasteride	Finasterida (see all 8)	98319-26-7	--
Testosterone	(+)-testosterone (see all 86)	58-22-0	--
Testosterone sulfate	17-O-Sulfotestosterone (see all 10)	651-45-6	--

3 DrugBank Compounds for SRD5A1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Dutasteride	--	164656-23-9	target	inhibitor	19879888 20426708 16818707 19707263 18318566 11752352 19091347 19200641 19543428
Finasteride	Finasterida [INN-Spanish] (see all 2)	98319-26-7	target	inhibitor	7734398 20460827 8117686 1314830 19707263
Levonorgestrel	18-Methylnorethisterone (see all 3)	797-63-7	target	inhibitor	11075290 11521119

10/102 Novoseek chemical compound relationships for SRD5A1 gene (see all 102) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
finasteride	97.7	340	7535480 (6), 1722168 (4), 8381228 (3), 9135694 (3) (see all 99)
dutasteride	96.4	76	9316864 (2), 9871428 (2), 17299062 (2), 14627182 (2) (see all 59)
dihydrotestosterone	96	329	9135694 (4), 8381804 (3), 18421068 (3), 12954658 (3) (see all 99)
testosterone	91	553	19995364 (6), 9135694 (4), 12954658 (4), 16155734 (4) (see all 99)
mk 386	90.2	1	8903421 (1)
17beta-hydroxysteroid	87	70	10490108 (4), 2158194 (2), 12161528 (2), 15514087 (2) (see all 56)
androstanedione	86.7	11	2362429 (1), 9558487 (1), 12161528 (1), 12466325 (1) (see all 11)
3-alpha-androstanediol glucuronide	86.2	11	8941077 (2), 11699123 (1), 7769052 (1), 1424180 (1) (see all 6)
androsterone glucuronide	85.4	16	7962311 (2), 12398233 (1), 1424180 (1), 1426314 (1) (see all 7)
tamsulosin	84.4	13	15925080 (1), 16515494 (1), 17004180 (1), 9511773 (1) (see all 12)

Search CenterWatch for drugs/clinical trials and news about SRD5A1 / S5A1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SRD5A1 gene:

NM_001047.2

Unigene Cluster for SRD5A1:

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

Hs.552 [show with all ESTs]

Unigene Representative Sequence: NM_001047

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000274192(uc003jdw.3 uc011cml.2 uc011cmm.2) ENST00000510531

ENST00000513117 ENST00000504286 ENST00000538824 ENST00000537411

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Additional cDNA sequence:

AF052126.1 AF113128.1 AK297208.1 AK297511.1 AK313070.1 AK315996.1 BC006373.2 BC007033.1

BC008673.2 BT006834.1 M32313.1

9 DOTS entries:

DT.444034 DT.95292639 DT.99946639 DT.100783025 DT.91874314 DT.92051061 DT.120829790 DT.120829832

DT.95376374

24/102 AceView cDNA sequences (see all 102):

BM783945 BE857592 AA488669 BX284105 AA917839 BF508186 BF968451 AI363117

BC008673 BC006373 BG675027 AF113128 AA251020 BX423623 BX440685 BV191614

BI334793 BE252370 BQ189243 CB218113 AL538036 AW418537 BM737865 BT006834

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SRD5A1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACTTGAATTC

About this image
See SRD5A1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SRD5A1

SOURCE GeneReport for Unigene cluster: Hs.552

UniProtKB/Swiss-Prot: S5A1_HUMAN, P18405

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

SABiosciences Expression via Pathway-Focused PCR Array including SRD5A1:

Drug Metabolism in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for SRD5A1 gene from 7/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Srd5a1^{1 , 5}	steroid 5 alpha-reductase 1^{1, 5}	72.13(n)¹ 63.2(a)¹		13 (35.55 cM)⁵ 78925¹ NM_175283.3¹ NP_780492.2¹ 69573449⁵
chicken (Gallus gallus)	Aves	LOC770453¹	3-oxo-5-alpha-steroid 4-dehydrogenase 1-like	65.22(n) 54.15(a)		770453 XM_001233787.2 XP_001233788.2
lizard (Anolis carolinensis)	Reptilia	SRD5A1⁶	--	55(a)	1 ↔ 1	1(235626354-235629923)
zebrafish (Danio rerio)	Actinopterygii	srd5a1¹	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 more	57.35(n) 54.66(a)		767715 NM_001076653.1 NP_001070121.1
worm (Caenorhabditis elegans)	Secernentea	F42F12.3³	3-oxo-5-alpha-steroid 4-dehydrogenase	43(a) (best of 3)		X(12385542-12386877) --
thale cress (Arabidopsis thaliana)	eudicotyledons	DET2¹	putative steroid reductase DET2	51.25(n) 45.79(a)		818383 NM_129361.4 NP_181340.1
rice (Oryza sativa)	Liliopsida	Os11g0184100¹	hypothetical protein	49.47(n) 39.73(a)		9272051 NM_001189462.1 NP_001176391.1

ENSEMBL Gene Tree for SRD5A1 (if available)
TreeFam Gene Tree for SRD5A1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SRD5A1 gene

1 SIMAP similar gene for SRD5A1 using alignment to 5 protein entries: S5A1_HUMAN (see all proteins):

SRD5A2

SRD5A1 for paralogs About GeneDecksing

3 Pseudogenes.org Pseudogenes for SRD5A1
PGOHUM00000257007 PGOHUM00000242046 PGOHUM00000257283

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs8192119^1,2	C,F,H,	--	6606791(+)	`TAAGAC/TTGCAA`	3	--	int¹ tfbs³		9		NS NA CSA WA	1091
rs11743026^1,2	C,H	--	6607766(+)	`CACGGC/GCAGAA`	3	--	nc-transcript-variantut5¹		0	--	--	--	--
rs4702373^1,2	C,F,A,	--	6607848(+)	`GGGACC/TTTTGG`	3	--	nc-transcript-variantut5¹		6		NA CSA WA EA	363
rs8192122^1,2	C,F,	--	6607907(+)	`GCGGCG/TTGACA`	3	--	nc-transcript-variantut5¹		1		NS	130
rs8192123^1,2	C,	--	6607911(+)	`CGTGAC/GAGGGA`	3	--	ut5¹ nc-transcript-variant		2		NS NA	248
rs8192126^1,2	C,F,	--	6608131(+)	`CCCGGG/AGCCGC`	3	--	us2k¹ ese³		2		NS CSA	127
rs8192127^1,2	C,F,	--	6608140(+)	`GCACCC/TACAGC`	3	--	us2k¹ ese³		2		NS CSA	117
rs8192129^1,2	C,F,	--	6609244(+)	`TTCCCC/GTTTTG`	3	--	us2k¹ trp³		3		NS CSA WA	261
rs145931025^1,2		--	6631507(+)	`GAGACC/TCGGAA`	4	--	us2k¹ int¹		0	--	--	--	--
rs76800733^1,2	F,	--	6631640(+)	`GCTAAG/ATCTGT`	4	--	us2k¹ int¹		1		EA	120

HapMap Linkage Disequilibrium report for SRD5A1 (6633456 - 6669675 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for SRD5A1: --

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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SRD5A1 for disorders           About GeneDecksing

OMIM gene information: 184753    OMIM disorders: --

20/89 diseases for SRD5A1 (see all 89):    About MalaCards

17-beta hydroxysteroid dehydrogenase 3 deficiency smith-lemli-opitz syndrome denys-drash syndrome androgen insensitivity syndrome

androgen insensitivity syndrome, partial 5-alpha reductase deficiency 46, xy disorders of sex development gonadal dysgenesis

disorders of sex development multiple endocrine neoplasia hidradenitis suppurativa gingival overgrowth

polycystic ovary syndrome temporal lobe epilepsy leydig cell tumor androgenetic alopecia

adrenal hyperplasia micropenis lichen sclerosus hidradenitis

10/77 Novoseek disease relationships for SRD5A1 gene (see all 77) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
benign prostatic hyperplasia	94.4	178	20303529 (3), 8381804 (2), 8636334 (2), 16515494 (2) (see all 99)
pseudohermaphroditism male	85.6	19	7584701 (2), 1879398 (1), 1944596 (1), 1505484 (1) (see all 15)
alopecia androgenetic	82.8	16	8077349 (2), 9879479 (1), 19655698 (1), 9873170 (1) (see all 14)
prostate cancer	78.7	160	8636334 (4), 18280514 (3), 1283894 (3), 16890642 (3) (see all 99)
virilization	76.5	9	2327864 (1), 9039340 (1), 8784107 (1), 17218080 (1) (see all 9)
prostatic obstruction	72.5	3	19030020 (1), 10168540 (1), 15651487 (1)
androgen insensitivity syndrome	71.4	4	16148681 (1), 2173324 (1), 12403225 (1), 18717241 (1)
prostatic diseases	69.8	7	17052442 (1), 8778238 (1), 18046919 (1), 19030020 (1) (see all 7)
androgen insensitivity syndrome partial	69.2	3	17973056 (1), 9329414 (1), 17627743 (1)
prostatic hyperplasia	69	8	9142509 (1), 19205388 (1), 12724020 (1), 12494605 (1) (see all 7)

Genetic Association Database (GAD): SRD5A1
Human Genome Epidemiology (HuGE) Navigator: SRD5A1 (27 documents)

Export disorders for SRD5A1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for SRD5A1 gene, integrated from 9 sources (see all 896):
(articles sorted by number of sources associating them with SRD5A1)

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Characterization and chromosomal mapping of a human steroid 5 alpha- reductase gene and pseudogene and mapping of the mouse homologue. (PubMed id 1686016)^{1, 2, 3} Jenkins E.P.... Russell D.W. (1991)
New steroid 5alpha-reductase type I (SRD5A1) homologous sequences on human chromosomes 6 and 8. (PubMed id 11678334)^{1, 2, 9} Eminovic I....Komel R. (2001)
Pharmacologic basis for the enhanced efficacy of dutasteride against prostatic cancers. (PubMed id 16818707)^{1, 7, 9} Xu Y....Isaacs J.T. (2006)
Androgenic correlates of genetic variation in the gene encoding 5alpha-reductase type 1. (PubMed id 16155734)^{1, 4, 9} Ellis J.A....Harrap S.B. (2005)
Gene analysis of steroid 5 alpha-reductase 1 in hyperandrogenic women. (PubMed id 16100771)^{1, 4, 9} Eminovic I....Heljic B. (2005)
A case-based evaluation of SRD5A1, SRD5A2, AR, and ADRA1A as candidate genes for severity of BPH. (PubMed id 15136785)^{1, 4, 9} Klotsman M....Hartmann K.E. (2004)
Analysis of genetic polymorphisms of steroid 5alpha-reductase type 1 and 2 genes in Korean men with androgenetic alopecia. (PubMed id 12670724)^{1, 4, 9} Ha S.J....Kim J.W. (2003)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PubMed id 10931946)^{1, 2} Hu R.-M.... Chen J.-L. (2000)
Structural and biochemical properties of cloned and expressed human and rat steroid 5 alpha-reductases. (PubMed id 2339109)^{1, 2} Andersson S. and Russell D.W. (1990)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 6715	HGNC: 11284	AceView: SRD5A1	Ensembl:ENSG00000145545	euGenes: HUgn6715
ECgene: SRD5A1	Kegg: 6715	H-InvDB: SRD5A1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for SRD5A1	Pharmacogenomics, SNPs, Pathways
NIEHS-SNPs	http://egp.gs.washington.edu/data/srd5a1/
Wikipedia	http://en.wikipedia.org/wiki/5_alpha_reductase

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Patent Information for SRD5A1 gene:
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SRD5A1 Gene

steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5...

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Prostatism
Nocturia
Genetic Susceptibility
Azoospermia
HERMAPHRODITISM, TRUE
ADRENAL DYSFUNCTION
Gonadal Dysgenesis Mixed
insulin sensitivity
Skin Diseases
Breast Cancer
Hyperthyroidism
primary tumor
Androgen Insensitivity Syndrome Partial
Adenocarcinoma
Carcinoma Transitional Cell
Obstruction
Klinefelters Syndrome
Cancer
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Acne Vulgaris
Epilepsy Temporal Lobe
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Adrenal Hyperplasia Congenital
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Cervical Cancer
Multiple Endocrine Neoplasia Type 1
Androgen Insensitivity Syndrome
prostate cancer
Impotence
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Metastasis
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recurrent prostate cancer
Denys-Drash Syndrome
ENDOCRINE DISORDER
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ENZYME DEFICIENCY
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BREAST CARCINOMA
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PSEUDOHERMAPHRODITISM MALE
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GENITALIA EXTERNAL AMBIGUOUS
congenital malformation
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Leydig Cell Tumor
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Wilms tumor
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Alopecia Androgenetic
benign prostatic hyperplasia
Adenoma
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OBESITY
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Atrophy
androgen suppression
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genetic disorder
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SRD5A1 Gene

steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5...

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