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Aliases for SRD5A3 Gene

Aliases for SRD5A3 Gene

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

External Ids for SRD5A3 Gene

Previous GeneCards Identifiers for SRD5A3 Gene

  • GC04P055908
  • GC04P056212
  • GC04P052161

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 Transport to the Golgi and subsequent modification. GO annotations related to this gene include oxidoreductase activity, acting on the CH-CH group of donors and 3-oxo-5-alpha-steroid 4-dehydrogenase 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).

Tocris Summary for SRD5A3 Gene

Gene Wiki entry for SRD5A3 Gene

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

Genomics for SRD5A3 Gene

Regulatory Elements for SRD5A3 Gene

Promoters for SRD5A3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SRD5A3 on UCSC Golden Path with GeneCards custom track

Genomic Location for SRD5A3 Gene

Chromosome:
4
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

Genes around SRD5A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SRD5A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SRD5A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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:
REFSEQ proteins:

No data available for DME Specific Peptides for SRD5A3 Gene

Domains & Families for SRD5A3 Gene

Protein Domains for SRD5A3 Gene

Suggested Antigen Peptide Sequences for SRD5A3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H8P0

UniProtKB/Swiss-Prot:

PORED_HUMAN :
  • Belongs to the steroid 5-alpha reductase family. Polyprenol reductase subfamily.
Family:
  • Belongs to the steroid 5-alpha reductase family. Polyprenol reductase subfamily.
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:0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor IDA,TAS --
genes like me logo Genes that share ontologies with SRD5A3: view
genes like me logo Genes that share phenotypes with SRD5A3: view

Human Phenotype Ontology for SRD5A3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SRD5A3 Gene

MGI Knock Outs for SRD5A3:

Animal Model Products

CRISPR Products

No data available for Transcription Factor Targets 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 4
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for SRD5A3 Gene

Pathways & Interactions for SRD5A3 Gene

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

Pathways by source for SRD5A3 Gene

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:0006486 protein glycosylation IEA --
GO:0006488 dolichol-linked oligosaccharide biosynthetic process IEA,IMP 20637498
GO:0006629 lipid metabolic process IEA --
GO:0006702 androgen biosynthetic process TAS --
GO:0016095 polyprenol catabolic process IEA,IDA 20637498
genes like me logo Genes that share ontologies with SRD5A3: view

No data available for SIGNOR curated interactions for SRD5A3 Gene

Drugs & Compounds for SRD5A3 Gene

(8) Drugs for SRD5A3 Gene - From: ApexBio, Tocris, HMDB, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Finasteride Approved Pharma Inhibitor of Type II 5α-reductase, Type II 5alpha-reductase inhibitor 64
Spironolactone Approved Pharma Antagonist, Target, antagonist Mineralocorticoid receptor antagonist 159
Dutasteride Approved, Investigational Pharma 5-alpha-reductase inhibitor 111
Testosterone Approved, Investigational Pharma Endogenous androgen receptor agonist 474
Auranofin Approved Pharma Activation, Activator Thioredoxin reductase inhibitor; induces MPT 9

(5) Additional Compounds for SRD5A3 Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
Cl-4AS-1
188589-66-4
PX 12
141400-58-0
TFM-4AS-1
188589-61-9
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

Protein differential expression in normal tissues from HIPED for SRD5A3 Gene

This gene is overexpressed in Ovary (38.1) and Breast (27.5).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with SRD5A3: view

Protein tissue co-expression partners for SRD5A3 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for SRD5A3 Gene

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 35
  • 99.9 (n)
  • 100 (a)
SRD5A3 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SRD5A3 36
  • 86 (a)
OneToOne
SRD5A3 35
  • 88.16 (n)
  • 89.62 (a)
dog
(Canis familiaris)
Mammalia SRD5A3 35
  • 89.1 (n)
  • 90.57 (a)
SRD5A3 36
  • 67 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Srd5a3 36
  • 78 (a)
OneToOne
Srd5a3 16
Srd5a3 35
  • 80.71 (n)
  • 80.82 (a)
oppossum
(Monodelphis domestica)
Mammalia SRD5A3 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SRD5A3 36
  • 58 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Srd5a3 35
  • 79.92 (n)
  • 81.12 (a)
chicken
(Gallus gallus)
Aves SRD5A3 36
  • 55 (a)
OneToOne
SRD5A3 35
  • 66.29 (n)
  • 60.59 (a)
lizard
(Anolis carolinensis)
Reptilia SRD5A3 36
  • 55 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC53983 35
tropical clawed frog
(Silurana tropicalis)
Amphibia srd5a3 35
  • 61.17 (n)
  • 58.24 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10153 35
zebrafish
(Danio rerio)
Actinopterygii srd5a3 36
  • 43 (a)
OneToOne
srd5a3 35
  • 54.65 (n)
  • 47.21 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007493 35
  • 45.67 (n)
  • 32.06 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7840 36
  • 26 (a)
OneToOne
CG7840 35
  • 45.05 (n)
  • 31.64 (a)
worm
(Caenorhabditis elegans)
Secernentea B0024.13 35
  • 43.11 (n)
  • 28.2 (a)
B0024.13 36
  • 26 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DFG10 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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
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

Variation tolerance for SRD5A3 Gene

Residual Variation Intolerance Score: 43.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.20; 39.73% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SRD5A3 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SRD5A3 Gene

Disorders for SRD5A3 Gene

MalaCards: The human disease database

(10) MalaCards diseases for SRD5A3 Gene - From: OMIM, ClinVar, GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type iq
  • ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities
kahrizi syndrome
  • autosomal recessive mental retardation cataract coloboma and kyphosis
congenital disorder of glycosylation, type ip
  • congenital disorder of glycosylation 1p
muscular dystrophy-dystroglycanopathy , type a, 5
  • muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a5
shaheen syndrome
  • shns
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for SRD5A3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SRD5A3
genes like me logo Genes that share disorders with SRD5A3: view

No data available for Genatlas for SRD5A3 Gene

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 67
  2. Adult phenotype and further phenotypic variability in SRD5A3-CDG. (PMID: 24433453) Kara B. … Tolun A. (BMC Med. Genet. 2014) 3
  3. Toward an understanding of the protein interaction network of the human liver. (PMID: 21988832) Wang J. … Yang X. (Mol. Syst. Biol. 2011) 3
  4. Overexpression of hepatic 5I+-reductase and 11I^-hydroxysteroid dehydrogenase type 1 in visceral adipose tissue is associated with hyperinsulinemia in morbidly obese patients. (PMID: 21704348) Baudrand R. … Fardella C.E. (Metab. Clin. Exp. 2011) 3
  5. 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

Products for SRD5A3 Gene

Sources for SRD5A3 Gene

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