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SRD5A3 Gene

protein-coding   GIFtS: 57
GCID: GC04P056212

Steroid 5 Alpha-Reductase 3

  See SRD5A3-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 31 2     SRD5A2L12
SRD5A2L2 3 5     Polyprenol Reductase2
3-Oxo-5-Alpha-Steroid 4-Dehydrogenase 32 3     Probable Polyprenol Reductase2
S5AR 32 3     EC 1.3.1.223
SR Type 32 3     EC 1.3.1.943
CDG1Q2 5     Steroid 5-Alpha-Reductase 2-Like3
KRIZI2 5     Steroid 5-Alpha-Reductase 33
CDG1P2     

External Ids:    HGNC: 258121   Entrez Gene: 796442   Ensembl: ENSG000001280397   OMIM: 6117155   UniProtKB: Q9H8P03   

Export aliases for SRD5A3 gene to outside databases

Previous GC identifers: GC04P055908 GC04P052161


(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 SRD5A3 Gene:
The protein encoded by this gene belongs to the steroid 5-alpha reductase family, and polyprenol reductase
subfamily. It is involved in the production of androgen 5-alpha-dihydrotestosterone (DHT) from testosterone, and
maintenance of the androgen-androgen receptor activation pathway. This protein is also necessary for the
conversion of polyprenol into dolichol, which is required for the synthesis of dolichol-linked monosaccharides
and the oligosaccharide precursor used for N-linked glycosylation of proteins. Mutations in this gene are
associated with congenital disorder of glycosylation type Iq. (provided by RefSeq, Mar 2011)

GeneCards Summary for SRD5A3 Gene:
SRD5A3 (steroid 5 alpha-reductase 3) is a protein-coding gene. Diseases associated with SRD5A3 include kahrizi syndrome, and transsexualism. GO annotations related to this gene include cholestenone 5-alpha-reductase activity and oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor.

UniProtKB/Swiss-Prot: PORED_HUMAN, Q9H8P0
Function: Plays a key role in early steps of protein N-linked glycosylation by being required for the conversion
of polyprenol into dolichol. Dolichols are required for the synthesis of dolichol-linked monosaccharides and the
oligosaccharide precursor used for N-glycosylation. Acts as a polyprenol reductase that promotes the reduction of
the alpha-isoprene unit of polyprenols into dolichols in a NADP-dependent mechanism. Also able to convert
testosterone (T) into 5-alpha-dihydrotestosterone (DHT)

Gene Wiki entry for SRD5A3 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 at NCBI GenBank:
NC_000004.11  NT_022853.16  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SRD5A3 gene promoter:
         RP58   Pax-5   AML1a   ATF-2   NCX/Ncx   FOXD1   HNF-3beta   CREB   CRE-BP1   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSRD5A3 promoter sequence
   Search Chromatin IP Primers for SRD5A3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SRD5A3


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

Entrez Gene cytogenetic band: 4q12   Ensembl cytogenetic band:  4q12   HGNC cytogenetic band: 4q12

SRD5A3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SRD5A3 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P056212:  view genomic region     (about GC identifiers)

Start:
56,212,276 bp from pter      End:
56,239,267 bp from pter
Size:
26,992 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PORED_HUMAN, Q9H8P0 (See protein sequence)
Recommended Name: Polyprenol reductase  
Size: 318 amino acids; 36521 Da
Secondary accessions: Q4W5Q6

Explore the universe of human proteins at neXtProt for SRD5A3: NX_Q9H8P0

Explore proteomics data for SRD5A3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SRD5A3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_078868.1  
    ENSEMBL proteins: 
     ENSP00000264228   ENSP00000424714  
    Reactome Protein details: Q9H8P0

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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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    1 InterPro protein domain:
     IPR001104 3-oxo-5_a-steroid_4-DH_C

    Graphical View of Domain Structure for InterPro Entry Q9H8P0

    ProtoNet protein and cluster: Q9H8P0

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

    UniProtKB/Swiss-Prot: PORED_HUMAN, Q9H8P0
    Similarity: Belongs to the steroid 5-alpha reductase family. Polyprenol reductase subfamily


    Find genes that share domains with SRD5A3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PORED_HUMAN, Q9H8P0
    Function: Plays a key role in early steps of protein N-linked glycosylation by being required for the conversion
    of polyprenol into dolichol. Dolichols are required for the synthesis of dolichol-linked monosaccharides and the
    oligosaccharide precursor used for N-glycosylation. Acts as a polyprenol reductase that promotes the reduction of
    the alpha-isoprene unit of polyprenols into dolichols in a NADP-dependent mechanism. Also able to convert
    testosterone (T) into 5-alpha-dihydrotestosterone (DHT)
    Catalytic activity: Ditrans,polycis-dolichol + NADP(+) = ditrans,polycis-polyprenol + NADPH
    Catalytic activity: A 3-oxo-5-alpha-steroid + NADP(+) = a 3-oxo-Delta(4)-steroid + NADPH

         Enzyme Numbers (IUBMB): EC 1.3.1.941 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:0016627oxidoreductase activity, acting on the CH-CH group of donors ----
    GO:0016628oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor IDA--
    GO:0047751cholestenone 5-alpha-reductase activity IEA--
         
    Find genes that share ontologies with SRD5A3           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for SRD5A3:
     Increased G2M DNA content  Increased number of mitotic ce  Synthetic lethal with Ras 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Srd5a3):
     cardiovascular system  embryogenesis  growth/size/body  mortality/aging  nervous system 

    Find genes that share phenotypes with SRD5A3           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for SRD5A3

    miRNA
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    miRTarBase miRNAs that target SRD5A3:
    hsa-mir-100-5p (MIRT048534)

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    hsa-let-7d hsa-miR-3942-5p hsa-let-7c hsa-let-7g hsa-let-7a hsa-miR-1255a hsa-miR-4326 hsa-miR-548c-3p
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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
    PORED_HUMAN, Q9H8P0: Endoplasmic reticulum membrane; Multi-pass membrane protein (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane3
    cytosol1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005783endoplasmic reticulum IDA--
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with SRD5A3           About GenesLikeMe


    (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 SRD5A3 About    
    See pathways by source

    SuperPathContained pathways About
    1Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Asparagine N-linked glycosylation0.49
    Synthesis of Dolichyl-phosphate0.00
    Post-translational protein modification0.43
    dolichol and dolichyl phosphate biosynthesis0.00
    Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein0.38
    Synthesis of substrates in N-glycan biosythesis0.00
    Metabolism of proteins0.30
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    3Metabolism of steroid hormones and vitamin D
    Metabolism of steroid hormones and vitamin D
    Androgen biosynthesis0.00
    4Steroid hormone biosynthesis
    Steroid hormone biosynthesis


    Find genes that share SuperPaths with SRD5A3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SRD5A3
        dolichol and dolichyl phosphate biosynthesis

    2 Reactome Pathways for SRD5A3
        Androgen biosynthesis
    Synthesis of Dolichyl-phosphate


    1 Kegg Pathway  (Kegg details for SRD5A3):
        Steroid hormone biosynthesis

    UniProtKB/Swiss-Prot: PORED_HUMAN, Q9H8P0
    Pathway: Protein modification; protein glycosylation

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SRD5A3
    Interactions:

        Search GeneGlobe Interaction Network for SRD5A3

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

    Selected Interacting proteins for SRD5A3 (Q9H8P03 ENSP000002642284) via UniProtKB, MINT, STRING, and/or I2D (see all 38)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    UNC119Q134323I2D: score=5 
    HSD3B1ENSP000003584214STRING: ENSP00000358421
    HSD3B2ENSP000003584244STRING: ENSP00000358424
    AKR1C3ENSP000003699274STRING: ENSP00000369927
    AKR1C4ENSP000002631264STRING: ENSP00000263126
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006486protein glycosylation ----
    GO:0006488dolichol-linked oligosaccharide biosynthetic process TAS--
    GO:0006489dolichyl diphosphate biosynthetic process TAS--
    GO:0006629lipid metabolic process ----
    GO:0006702androgen biosynthetic process TAS--

    Find genes that share ontologies with SRD5A3           About GenesLikeMe



    (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 SRD5A3 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]

    1 HMDB Compound for SRD5A3    About this table
    CompoundSynonyms CAS #PubMed Ids
    Testosterone(+)-testosterone (see all 86)58-22-0--



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SRD5A3 gene: 
    NM_024592.4  

    Unigene Cluster for SRD5A3:

    Steroid 5 alpha-reductase 3
    Hs.39311  [show with all ESTs]
    Unigene Representative Sequence: NM_024592
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264228(uc003hau.3) ENST00000505210 ENST00000514398
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    Additional mRNA sequence: 

    AK023414.1 BC002480.2 CR457312.1 

    8 DOTS entries:

    DT.215821  DT.438383  DT.100776172  DT.40246531  DT.100023513  DT.100717619  DT.100683832  DT.215822 

    Selected AceView cDNA sequences (see all 124):

    BU679863 CK823753 CB216689 BU174286 CR602749 CR622639 BM976846 BU676021 
    CR613723 CR594439 BQ892637 BU634451 BU196374 AI130940 AA252300 CF126903 
    BG749408 AA588683 BU164651 CB129001 AA136831 AI858981 AI580837 BM510827 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SRD5A3 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b
    SP1:                    -     -     -                 -                                 
    SP2:                                -                 -                                 
    SP3:                                                  -                                 
    SP4:                    -     -     -     -     -     -                                 
    SP5:                    -           -                                                   


    ECgene alternative splicing isoforms for SRD5A3

    (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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    SRD5A3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCAGTGCCAC
    SRD5A3 Expression
    About this image


    SRD5A3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
    SRD5A3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SRD5A3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.39311

    UniProtKB/Swiss-Prot: PORED_HUMAN, Q9H8P0
    Tissue specificity: Overexpressed in hormone-refractory prostate cancers (HRPC). Almost no or little expression in
    normal adult organs

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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 animals.

    Orthologs for SRD5A3 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Srd5a31 , 5 steroid 5 alpha-reductase 31, 5 80.71(n)1
    80.82(a)1
      5 (40.50 cM)5
    573571  NM_020611.41  NP_065636.21 
     761402715 
    chicken
    (Gallus gallus)
    Aves SRD5A31 steroid 5 alpha-reductase 3 66.29(n)
    60.59(a)
      422750  XM_420703.4  XP_420703.2 
    lizard
    (Anolis carolinensis)
    Reptilia SRD5A36
    steroid 5 alpha-reductase 3
    55(a)
    1 ↔ 1
    5(104729160-104738969)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC539832 hypothetical protein MGC53983 74.91(n)    BC042255.1 
    zebrafish
    (Danio rerio)
    Actinopterygii srd5a31 steroid 5 alpha-reductase 3 54.65(n)
    47.21(a)
      560717  NM_001044939.1  NP_001038404.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG78401 CG7840 45.05(n)
    31.64(a)
      34136  NM_135359.3  NP_609203.1 
    worm
    (Caenorhabditis elegans)
    Secernentea B0024.131 B0024.13 43.11(n)
    28.2(a)
      179438  NM_001269280.1  NP_001256209.1 


    ENSEMBL Gene Tree for SRD5A3 (if available)
    TreeFam Gene Tree for SRD5A3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SRD5A3 gene

    Find genes that share paralogs with SRD5A3           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for SRD5A3
    PGOHUM00000258593


    (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 SRD5A3 (see all 698)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs591867301,2
    C,F--56112539(+) AGGCAG/AGCGGA 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1828179971,2
    --56112576(+) AGCCTC/GACCAA 1 -- us2k10--------
    rs1865070471,2
    --56112624(+) AGCCTC/GGTGTG 1 -- us2k10--------
    rs1913716341,2
    --56112692(+) CAGGAA/GGCAGA 1 -- us2k10--------
    rs1821906461,2
    --56112751(+) AGAGTC/GAAACT 1 -- us2k10--------
    rs1869302111,2
    --56112840(+) ACACAC/GACACT 1 -- us2k10--------
    rs600547641,2
    C--56112916(+) CCTAC-/AGAGAAA/
    AGAGAAACTG
    CCAGG
    1 -- us2k10--------
    rs2011195631,2
    --56112917(+) CTACC-/TGTCAGGA 1 -- cds10--------
    rs760537051,2
    C--56112918(+) TACCC-/AGAAACTG
    TA
    /GTA/TGTA
    AGGAA
    2 -- us2k1 cds10--------
    rs731497151,2
    C,F--56112983(+) GACAGA/GCCAGC 1 -- us2k13Minor allele frequency- G:0.05WA CSA 122

    HapMap Linkage Disequilibrium report for SRD5A3 (56212276 - 56239267 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SRD5A3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv526344CNV Gain19592680

    Human Gene Mutation Database (HGMD): SRD5A3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SRD5A3
    DNA2.0 Custom Variant and Variant Library Synthesis for SRD5A3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611715   
    OMIM disorders: 612379  612713  
    UniProtKB/Swiss-Prot: PORED_HUMAN, Q9H8P0
  • Congenital disorder of glycosylation 1Q (CDG1Q) [MIM:612379]: A multisystem disorder caused by a defect
    in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of
    glycosylation result in a wide variety of clinical features, such as defects in the nervous system development,
    psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad
    spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation,
    and maintenance of cell functions. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Kahrizi syndrome (KHRZ) [MIM:612713]: An autosomal recessive neurodevelopmental disorder characterized by
    mental retardation, cataracts, coloboma, kyphosis, and coarse facial features. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 5 diseases for SRD5A3:    
    About MalaCards
    kahrizi syndrome    transsexualism    congenital disorder of glycosylation, type iq    pseudo-torch syndrome
    torch syndrome

    2 diseases from the University of Copenhagen DISEASES database for SRD5A3:
    Transsexualism     Coloboma

    Find genes that share disorders with SRD5A3           About GenesLikeMe


    Export disorders for SRD5A3 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 SRD5A3 gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with SRD5A3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Novel 5 alpha-steroid reductase (SRD5A3, type-3) is overexpressed in hormone-refractory prostate cancer. (PubMed id 17986282)1, 2, 3 Uemura M....Nakagawa H. (Cancer Sci. 2008)
    2. Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. (PubMed id 20700148)1, 2 Kahrizi K.... Tzschach A. (Eur. J. Hum. Genet. 2011)
    3. SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. (PubMed id 20637498)1, 2 Cantagrel V.... Gleeson J.G. (Cell 2010)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Adult phenotype and further phenotypic variability in SRD5A3-CDG. (PubMed id 24433453)1 Kara B....Tolun A. (BMC Med. Genet. 2014)
    6. SRD5A3-CDG: A patient with a novel mutation. (PubMed id 22240719)2 Kasapkara C.S.... Jaeken J. (Eur. J. Paediatr. Neurol. 2012)
    7. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    8. Overexpression of hepatic 5I+-reductase and 11I^-hydroxysteroid dehydrogenase type 1 in visceral adipose tissue is associated with hyperinsulinemia in morbidly obese patients. (PubMed id 21704348)1 Baudrand R....Fardella C.E. (Metab. Clin. Exp. 2011)
    9. A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. (PubMed id 20852264)1 Morava E....Lefeber D.J. (Brain 2010)
    10. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 79644 HGNC: 25812 AceView: FLJ13352 Ensembl:ENSG00000128039 euGenes: HUgn79644
    ECgene: SRD5A3 Kegg: 79644 H-InvDB: SRD5A3

    (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 SRD5A3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SRD5A3 gene:
    Search GeneIP for patents involving SRD5A3

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



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