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Aliases for SRD5A3 Gene

Aliases for SRD5A3 Gene

  • Steroid 5 Alpha-Reductase 3 2 3
  • SRD5A2L 3 4 6
  • 3-Oxo-5-Alpha-Steroid 4-Dehydrogenase 3 3 4
  • SR Type 3 3 4
  • S5AR 3 3 4
  • CDG1Q 3 6
  • KRIZI 3 6
  • Steroid 5-Alpha-Reductase 2-Like 4
  • Probable Polyprenol Reductase 3
  • Steroid 5-Alpha-Reductase 3 4
  • Polyprenol Reductase 3
  • EC 1.3.1.94 4
  • EC 1.3.1.22 4
  • SRD5A2L1 3
  • CDG1P 3

External Ids for SRD5A3 Gene

Summaries for SRD5A3 Gene

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 congenital disorder of glycosylation, type iq and kahrizi syndrome. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor and cholestenone 5-alpha-reductase activity.

UniProtKB/Swiss-Prot for SRD5A3 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SRD5A3 Gene

Genomics for SRD5A3 Gene

Genomic Location for SRD5A3 Gene

Start:
55,346,109 bp from pter
End:
55,373,100 bp from pter
Size:
26,992 bases
Orientation:
Plus strand

Genomic View for SRD5A3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SRD5A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SRD5A3 Gene

Regulatory Elements for SRD5A3 Gene

Proteins for SRD5A3 Gene

  • Protein details for SRD5A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H8P0-PORED_HUMAN
    Recommended name:
    Polyprenol reductase
    Protein Accession:
    Q9H8P0
    Secondary Accessions:
    • Q4W5Q6

    Protein attributes for SRD5A3 Gene

    Size:
    318 amino acids
    Molecular mass:
    36521 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SRD5A3 Gene

Proteomics data for SRD5A3 Gene at MOPED

Post-translational modifications for SRD5A3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SRD5A3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SRD5A3 Gene

Domains for SRD5A3 Gene

Protein Domains for SRD5A3 Gene

UniProtKB/Swiss-Prot:

PORED_HUMAN
Family:
  • Belongs to the steroid 5-alpha reductase family. Polyprenol reductase subfamily.:
    • Q9H8P0
genes like me logo Genes that share domains with SRD5A3: view

No data available for Gene Families for SRD5A3 Gene

Function for SRD5A3 Gene

Molecular function for SRD5A3 Gene

UniProtKB/Swiss-Prot CatalyticActivity: Ditrans,polycis-dolichol + NADP(+) = ditrans,polycis-polyprenol + NADPH
UniProtKB/Swiss-Prot CatalyticActivity: A 3-oxo-5-alpha-steroid + NADP(+) = a 3-oxo-Delta(4)-steroid + NADPH
UniProtKB/Swiss-Prot 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).

Enzyme Numbers (IUBMB) for SRD5A3 Gene

Gene Ontology (GO) - Molecular Function for SRD5A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003865 3-oxo-5-alpha-steroid 4-dehydrogenase activity IDA 17986282
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors --
GO:0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor IDA 20637498
GO:0047751 cholestenone 5-alpha-reductase activity IEA --
genes like me logo Genes that share ontologies with SRD5A3: view
genes like me logo Genes that share phenotypes with SRD5A3: view

miRNA for SRD5A3 Gene

miRTarBase miRNAs that target SRD5A3

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for SRD5A3 Gene

Localization for SRD5A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SRD5A3 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SRD5A3 Gene COMPARTMENTS Subcellular localization image for SRD5A3 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
cytosol 1

Gene Ontology (GO) - Cellular Components for SRD5A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005783 endoplasmic reticulum IDA 20637498
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SRD5A3: view

Pathways for SRD5A3 Gene

genes like me logo Genes that share pathways with SRD5A3: view

UniProtKB/Swiss-Prot Q9H8P0-PORED_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for SRD5A3 Gene

Gene Ontology (GO) - Biological Process for SRD5A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
GO:0006489 dolichyl diphosphate biosynthetic process TAS --
GO:0006629 lipid metabolic process --
GO:0006702 androgen biosynthetic process TAS --
GO:0008202 steroid metabolic process TAS --
genes like me logo Genes that share ontologies with SRD5A3: view

Compounds for SRD5A3 Gene

(3) Tocris Compounds for SRD5A3 Gene

Compound Action Cas Number
Auranofin Thioredoxin reductase inhibitor; induces MPT [34031-32-8]
ES 936 Mechanism-based inhibitor of NAD(P)H:quinone oxidoreductase (NQO1) [192820-78-3]
Finasteride Type II 5alpha-reductase inhibitor [98319-26-7]

(1) HMDB Compounds for SRD5A3 Gene

Compound Synonyms Cas Number PubMed IDs
Testosterone
  • (+)-testosterone
58-22-0
genes like me logo Genes that share compounds with SRD5A3: view

Transcripts for SRD5A3 Gene

mRNA/cDNA for SRD5A3 Gene

Unigene Clusters for SRD5A3 Gene

Steroid 5 alpha-reductase 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SRD5A3 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b
SP1: - - - -
SP2: - -
SP3: -
SP4: - - - - - -
SP5: - -
SP6: - - - -
SP7:

Relevant External Links for SRD5A3 Gene

GeneLoc Exon Structure for
SRD5A3
ECgene alternative splicing isoforms for
SRD5A3

Expression for SRD5A3 Gene

mRNA expression in normal human tissues for SRD5A3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SRD5A3 Gene

SOURCE GeneReport for Unigene cluster for SRD5A3 Gene Hs.39311

mRNA Expression by UniProt/SwissProt for SRD5A3 Gene

Q9H8P0-PORED_HUMAN
Tissue specificity: Overexpressed in hormone-refractory prostate cancers (HRPC). Almost no or little expression in normal adult organs.
genes like me logo Genes that share expressions with SRD5A3: view

Orthologs for SRD5A3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SRD5A3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SRD5A3 36
  • 99.9 (n)
  • 100 (a)
SRD5A3 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SRD5A3 36
  • 88.16 (n)
  • 89.62 (a)
SRD5A3 37
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SRD5A3 36
  • 89.1 (n)
  • 90.57 (a)
SRD5A3 37
  • 67 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Srd5a3 36
  • 80.71 (n)
  • 80.82 (a)
Srd5a3 16
Srd5a3 37
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SRD5A3 37
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SRD5A3 37
  • 58 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Srd5a3 36
  • 79.92 (n)
  • 81.12 (a)
chicken
(Gallus gallus)
Aves SRD5A3 36
  • 66.29 (n)
  • 60.59 (a)
SRD5A3 37
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SRD5A3 37
  • 55 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC53983 36
tropical clawed frog
(Silurana tropicalis)
Amphibia srd5a3 36
  • 61.17 (n)
  • 58.24 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10153 36
zebrafish
(Danio rerio)
Actinopterygii srd5a3 36
  • 54.65 (n)
  • 47.21 (a)
srd5a3 37
  • 43 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007493 36
  • 45.67 (n)
  • 32.06 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7840 36
  • 45.05 (n)
  • 31.64 (a)
CG7840 37
  • 26 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea B0024.13 36
  • 43.11 (n)
  • 28.2 (a)
B0024.13 37
  • 26 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DFG10 39
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 30 (a)
OneToOne
Species with no ortholog for SRD5A3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SRD5A3 Gene

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

Paralogs for SRD5A3 Gene

Pseudogenes.org Pseudogenes for SRD5A3 Gene

genes like me logo Genes that share paralogs with SRD5A3: view

No data available for Paralogs for SRD5A3 Gene

Variants for SRD5A3 Gene

Sequence variations from dbSNP and Humsavar for SRD5A3 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs4864541 -- 55,350,388(+) tatac(A/G)tatta intron-variant
rs4864981 -- 55,353,530(+) AAGTC(A/G)CTGGG intron-variant
rs4864982 -- 55,358,180(+) TCAGA(A/G)AGGTT intron-variant
rs4864983 -- 55,358,191(+) TCAGA(C/T)TGAAT intron-variant
rs6554272 -- 55,346,940(+) CCCGT(A/C)CCCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SRD5A3 Gene

Variant ID Type Subtype PubMed ID
nsv526344 CNV Gain 19592680

Relevant External Links for SRD5A3 Gene

HapMap Linkage Disequilibrium report
SRD5A3
Human Gene Mutation Database (HGMD)
SRD5A3

Disorders for SRD5A3 Gene

(2) OMIM Diseases for SRD5A3 Gene (611715)

UniProtKB/Swiss-Prot

PORED_HUMAN
  • 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. {ECO:0000269 PubMed:20637498, ECO:0000269 PubMed:22240719}. 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. {ECO:0000269 PubMed:20700148}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for SRD5A3 Gene

genes like me logo Genes that share disorders with SRD5A3: view

Publications for SRD5A3 Gene

  1. Novel 5 alpha-steroid reductase (SRD5A3, type-3) is overexpressed in hormone-refractory prostate cancer. (PMID: 17986282) Uemura M. … Nakagawa H. (Cancer Sci. 2008) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. (PMID: 20637498) Cantagrel V. … Gleeson J.G. (Cell 2010) 3 4
  4. Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. (PMID: 20700148) Kahrizi K. … Tzschach A. (Eur. J. Hum. Genet. 2011) 3 4
  5. A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. (PMID: 20852264) Morava E. … Lefeber D.J. (Brain 2010) 3

Products for SRD5A3 Gene

Sources for SRD5A3 Gene

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