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SRD5A1 Gene

protein-coding   GIFtS: 61
GCID: GC05P006633

Steroid-5-Alpha-Reductase, Alpha Polypeptide 1 (3-Oxo-5...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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 GC05P006686


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)) is a protein-coding gene. Diseases associated with SRD5A1 include chronic laryngitis, and 5-alpha reductase deficiency. GO annotations related to this gene include cholestenone 5-alpha-reductase activity and electron carrier activity.

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 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000005.10  NT_006576.17  NC_018916.2  
Regulatory elements:
   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 plasmidSRD5A1 promoter sequence
   Search Chromatin IP Primers for SRD5A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 GC05P006633:  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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
Secondary accessions: B2R7Q1 Q9UHY4 Q9UP36 Q9UP37

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

Explore proteomics data for SRD5A1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SRD5A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001038.1  
    ENSEMBL proteins: 
     ENSP00000274192   ENSP00000425330   ENSP00000421342   ENSP00000440186   ENSP00000446275  
    Reactome Protein details: P18405

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     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 domain: IPB001104 3-oxo-5-alpha-steroid 4-dehydrogenase

    UniProtKB/Swiss-Prot: S5A1_HUMAN, P18405
    Similarity: Belongs to the steroid 5-alpha reductase family


    SRD5A1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00038653-oxo-5-alpha-steroid 4-dehydrogenase activity IDA17986282
    GO:0009055electron carrier activity TAS1686016
    GO:0016627oxidoreductase activity, acting on the CH-CH group of donors ----
    GO:0047751cholestenone 5-alpha-reductase activity IEA--
         
    SRD5A1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SRD5A1:
     Increased gamma-H2AX phosphory  Synthetic lethal with Ras 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Srd5a1):
     endocrine/exocrine gland  reproductive system 

    SRD5A1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Srd5a1tm1Mahe for SRD5A1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SRD5A1
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    S5A1_HUMAN, P18405: Microsome membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass
    membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    extracellular2
    cytosol1
    lysosome1
    mitochondrion1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    SRD5A1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SRD5A1 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Transcription Androgen Receptor nuclear signaling
    Transcription Androgen Receptor nuclear signaling0.49
    Translation Non genomic rapid action of Androgen Receptor0.49
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    3superpathway of steroid hormone biosynthesis
    superpathway of steroid hormone biosynthesis
    androgen biosynthesis0.00
    4Metabolism of steroid hormones and vitamin D
    Metabolism of steroid hormones and vitamin D
    Androgen biosynthesis0.00
    5Steroid hormone biosynthesis
    Steroid hormone biosynthesis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 GeneGo (Thomson Reuters) Pathways for SRD5A1
        Transcription Androgen Receptor nuclear signaling
    Translation Non-genomic (rapid) action of Androgen Receptor

    3 BioSystems Pathways for SRD5A1
        cardenolide biosynthesis
    superpathway of steroid hormone biosynthesis
    androgen biosynthesis

    1 Reactome Pathway for SRD5A1
        Androgen biosynthesis


    1 Kegg Pathway  (Kegg details for SRD5A1):
        Steroid hormone biosynthesis


    SRD5A1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including SRD5A1: 
              Drug Metabolism in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SRD5A1

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

    Selected Interacting proteins for SRD5A1 (ENSP000002741924) via UniProtKB, MINT, STRING, and/or I2D (see all 33)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AKR1C3ENSP000003699274STRING: ENSP00000369927
    AKR1C4ENSP000002631264STRING: ENSP00000263126
    AKR1D1ENSP000002423754STRING: ENSP00000242375
    CYP11B1ENSP000002924274STRING: ENSP00000292427
    CYP19A1ENSP000002604334STRING: ENSP00000260433
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process ----
    GO:0006702androgen biosynthetic process TAS--
    GO:0007530sex determination NAS1686016
    GO:0007548sex differentiation IEA--
    GO:0008202steroid metabolic process TAS--

    SRD5A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for SRD5A1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    AuranofinThioredoxin reductase inhibitor; induces MPT[34031-32-8]
    ES 936Mechanism-based inhibitor of NAD(P)H:quinone oxidoreductase (NQO1)[192820-78-3]
    FinasterideType II 5alpha-reductase inhibitor[98319-26-7]

    9 HMDB Compounds for SRD5A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    7a,12a-Dihydroxy-5a-cholestan-3-one7a,12a-Dihydroxy-5a-cholestan-3-one ----
    7a,12a-Dihydroxy-cholestene-3-one7-alpha,12-alpha-dihydroxy-4-cholesten-3-one (see all 7)----
    Androst-5-ene-3b,17b-diol3beta,17beta-Dihydroxy-5-androstene (see all 13)521-17-5--
    Androstanedione5a-Androsta-3,17-dione (see all 11)846-46-8--
    Androstenedione(4)-Androsten-3,17-dione (see all 14)63-05-8--
    Dihydrotestosterone17-Hydroxy-androstan-3-one (see all 31)521-18-6--
    FinasterideFinasterida (see all 8)98319-26-7--
    Testosterone(+)-testosterone (see all 86)58-22-0--
    Testosterone sulfate17-O-Sulfotestosterone (see all 10)651-45-6--

    3 DrugBank Compounds for SRD5A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Dutasteride-- 164656-23-9targetinhibitor19879888 20426708 16818707 19707263 18318566 11752352 19091347 19200641 19543428
    FinasterideFinasterida [INN-Spanish] (see all 2)98319-26-7targetinhibitor7734398 20460827 8117686 1314830 19707263
    Levonorgestrel18-Methylnorethisterone (see all 3)797-63-7targetinhibitor11075290 11521119

    Selected Novoseek inferred 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)



    SRD5A1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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 mRNA 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 

    Selected AceView cDNA sequences (see all 102):

    BF508186 AF113128 BF968451 AI363117 BC008673 BX284105 BC006373 BG675027 
    BE857592 AA917839 BM783945 AA488669 AW967459 BG029231 BT006834 AU124749 
    AW418537 AA765264 M32313 BU195899 NM_001047 BX440685 AU280630 BM854378 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SRD5A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTTGAATTC
    SRD5A1 Expression
    About this image

    SRD5A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SRD5A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.552

    UniProtKB/Swiss-Prot: S5A1_HUMAN, P18405
    Tissue specificity: Liver and prostate (at a low level)

        Pathway & Disease-focused RT2 Profiler PCR Array including SRD5A1: 
              Drug Metabolism in human mouse rat

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    In Situ
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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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SRD5A1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Srd5a11 , 5 steroid 5 alpha-reductase 11, 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 SRD5A11 steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 more 65.22(n)
    54.15(a)
      770453  XM_004935131.1  XP_004935188.1 
    lizard
    (Anolis carolinensis)
    Reptilia SRD5A16
    steroid-5-alpha-reductase, alpha polypeptide 1 (3-...
    49(a)
    1 ↔ 1
    4(82992154-83031092)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia srd5a11 steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 more 57.66(n)
    52.42(a)
      448586  NM_001006840.1  NP_001006841.1 
    zebrafish
    (Danio rerio)
    Actinopterygii srd5a11 steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 more 56.59(n)
    53.88(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 DET2 51.25(n)
    45.79(a)
      818383  NM_129361.4  NP_181340.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g08516001 Os01g0851600 48.23(n)
    39.38(a)
      4324809  NM_001051357.1  NP_001044822.1 


    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)
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    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, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SRD5A1 (see all 847)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs4723581,2
    C,F--6635569(+) GTATTC/TGGTGC 1 -- int17Minor allele frequency- T:0.20NA WA CSA EA 366
    rs1919548721,2
    --6635583(+) CCTAGG/TCCCAT 1 -- int10--------
    rs4724021,2
    C,F,A,H--6635591(+) CATCAC/GTCATG 1 -- int116Minor allele frequency- N:0.01EA NA NS WA CSA 989
    rs5019991,2
    C,F,A,H--6635601(-) CATCCA/GGGGTC 1 -- int116Minor allele frequency- G:0.46EA NA NS WA CSA 821
    rs1511239231,2
    --6635602(+) ACCCTA/GGATGA 1 -- int10--------
    rs77075591,2
    C,F,A,H--6635740(+) ATCTGC/AGTGCT 1 -- int115Minor allele frequency- A:0.25NA NS EA WA CSA 895
    rs1410351781,2
    C--6635774(+) TTTGCA/GTTGCT 1 -- int10--------
    rs5001821,2
    C,F,O,A,H--6635799(-) AGTACA/CTGTCT 1 -- int19Minor allele frequency- C:0.19NS NA WA CSA EA 604
    rs15601491,2
    C,F,O,H--6635805(-) ACACAG/CAGTAC 1 -- int113Minor allele frequency- C:0.34NA NS EA WA 906
    rs5000581,2
    C,F,A,H--6635839(-) GCACAT/CGAGGC 1 -- int111Minor allele frequency- C:0.19NS EA NA WA CSA 786

    HapMap Linkage Disequilibrium report for SRD5A1 (6633456 - 6669675 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SRD5A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv4696CNV Insertion18451855
    nsv880892CNV Loss21882294
    esv275079CNV Gain+Loss21479260

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SRD5A1
    DNA2.0 Custom Variant and Variant Library Synthesis for SRD5A1

    (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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    OMIM gene information: 184753    OMIM disorders: --

    Selected diseases for SRD5A1 (see all 74):    
    About MalaCards
    chronic laryngitis    5-alpha reductase deficiency    prostatic adenoma    androgenic alopecia
    prostatic hypertrophy    denys-drash syndrome    prostate disease    impotence
    androgen insensitivity syndrome    pseudohermaphroditism    hyperandrogenism    gingival overgrowth
    lichen sclerosus    periostitis    breast cyst    gynecomastia
    acne    anovulation    hypospadias    hyperprolactinemia


    SRD5A1 for disorders           About GeneDecksing

    Selected Novoseek inferred 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 10 sources (see all 902):
    (articles sorted by number of sources associating them with SRD5A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (Genomics 1991)
    2. 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. (PubMed id 16849416)1, 4, 9 Goodarzi M.O....Azziz R. (J. Clin. Endocrinol. Metab. 2006)
    3. Polymorphisms of steroid 5-alpha-reductase type I (SRD5A1) gene are associated to peripheral arterial disease. (PubMed id 19246976)1, 4, 9 Signorelli S.S....Condorelli D.F. (J. Endocrinol. Invest. 2008)
    4. 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. (Pflugers Arch. 2001)
    5. Pharmacologic basis for the enhanced efficacy of dutasteride against prostatic cancers. (PubMed id 16818707)1, 7, 9 Xu Y....Isaacs J.T. (Clin. Cancer Res. 2006)
    6. 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. (J. Hum. Genet. 2005)
    7. Gene analysis of steroid 5 alpha-reductase 1 in hyperandrogenic women. (PubMed id 16100771)1, 4, 9 EminoviA8 I....HeljiA8 B. (Croat. Med. J. 2005)
    8. 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. (Pharmacogenomics J. 2004)
    9. Genetic variation in the progesterone receptor and metabolism pathways and hormone therapy in relation to breast cancer risk. (PubMed id 19846565)1, 4, 9 Reding K.W....Malone K.E. (Am. J. Epidemiol. 2009)
    10. 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. (J. Dermatol. Sci. 2003)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (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, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SRD5A1 Pharmacogenomics, SNPs, Pathways
    NIEHS-SNPshttp://egp.gs.washington.edu/data/srd5a1/
    Wikipedia http://en.wikipedia.org/wiki/5_alpha_reductase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SRD5A1 gene:
    Search GeneIP for patents involving SRD5A1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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