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SRD5A1 (steroid 5 alpha-reductase 1)

Identity

Alias_namessteroid-5-alpha-reductase
Other aliasS5AR 1
HGNC (Hugo) SRD5A1
LocusID (NCBI) 6715
Atlas_Id 43844
Location 5p15.31  [Link to chromosome band 5p15]
Location_base_pair Starts at 6633322 and ends at 6669562 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PAPD7 (5p15.31) / SRD5A1 (5p15.31)SRD5A1 (5p15.31) / ADAMTS16 (5p15.32)PAPD7 5p15.31 / SRD5A1 5p15.31
SRD5A1 5p15.31 / ADAMTS16 5p15.32

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SRD5A1   11284
Cards
Entrez_Gene (NCBI)SRD5A1  6715  steroid 5 alpha-reductase 1
AliasesS5AR
GeneCards (Weizmann)SRD5A1
Ensembl hg19 (Hinxton)ENSG00000145545 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000145545 [Gene_View]  chr5:6633322-6669562 [Contig_View]  SRD5A1 [Vega]
ICGC DataPortalENSG00000145545
TCGA cBioPortalSRD5A1
AceView (NCBI)SRD5A1
Genatlas (Paris)SRD5A1
WikiGenes6715
SOURCE (Princeton)SRD5A1
Genetics Home Reference (NIH)SRD5A1
Genomic and cartography
GoldenPath hg38 (UCSC)SRD5A1  -     chr5:6633322-6669562 +  5p15.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SRD5A1  -     5p15.31   [Description]    (hg19-Feb_2009)
EnsemblSRD5A1 - 5p15.31 [CytoView hg19]  SRD5A1 - 5p15.31 [CytoView hg38]
Mapping of homologs : NCBISRD5A1 [Mapview hg19]  SRD5A1 [Mapview hg38]
OMIM184753   
Gene and transcription
Genbank (Entrez)AF052126 AF113128 AK297208 AK297511 AK313070
RefSeq transcript (Entrez)NM_001047 NM_001324322 NM_001324323
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SRD5A1
Cluster EST : UnigeneHs.552 [ NCBI ]
CGAP (NCI)Hs.552
Alternative Splicing GalleryENSG00000145545
Gene ExpressionSRD5A1 [ NCBI-GEO ]   SRD5A1 [ EBI - ARRAY_EXPRESS ]   SRD5A1 [ SEEK ]   SRD5A1 [ MEM ]
Gene Expression Viewer (FireBrowse)SRD5A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6715
GTEX Portal (Tissue expression)SRD5A1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP18405   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP18405  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP18405
Splice isoforms : SwissVarP18405
Catalytic activity : Enzyme1.3.1.22 [ Enzyme-Expasy ]   1.3.1.221.3.1.22 [ IntEnz-EBI ]   1.3.1.22 [ BRENDA ]   1.3.1.22 [ KEGG ]   
PhosPhoSitePlusP18405
Domaine pattern : Prosite (Expaxy)S5A_REDUCTASE (PS50244)   
Domains : Interpro (EBI)3-oxo-5-alpha-steroid_4-DH    3-oxo-5_a-steroid_4-DH_C   
Domain families : Pfam (Sanger)Steroid_dh (PF02544)   
Domain families : Pfam (NCBI)pfam02544   
Conserved Domain (NCBI)SRD5A1
DMDM Disease mutations6715
Blocks (Seattle)SRD5A1
SuperfamilyP18405
Human Protein AtlasENSG00000145545
Peptide AtlasP18405
HPRD01699
IPIIPI00032233   IPI00922241   IPI00921801   IPI00967636   IPI00967071   
Protein Interaction databases
DIP (DOE-UCLA)P18405
IntAct (EBI)P18405
FunCoupENSG00000145545
BioGRIDSRD5A1
STRING (EMBL)SRD5A1
ZODIACSRD5A1
Ontologies - Pathways
QuickGOP18405
Ontology : AmiGOurogenital system development  liver development  3-oxo-5-alpha-steroid 4-dehydrogenase activity  3-oxo-5-alpha-steroid 4-dehydrogenase activity  endoplasmic reticulum membrane  steroid biosynthetic process  androgen biosynthetic process  androgen biosynthetic process  sex determination  male gonad development  electron carrier activity  cellular response to starvation  response to muscle activity  integral component of membrane  diterpenoid metabolic process  spinal cord development  hippocampus development  thalamus development  hypothalamus development  pituitary gland development  cerebral cortex development  cell differentiation  male genitalia development  female genitalia development  organelle membrane  response to follicle-stimulating hormone  cellular response to insulin stimulus  amide binding  serotonin metabolic process  progesterone metabolic process  response to drug  circadian sleep/wake cycle, REM sleep  neuronal cell body  myelin sheath  response to estrogen  cholestenone 5-alpha-reductase activity  perinuclear region of cytoplasm  oxidation-reduction process  bone development  response to growth hormone  response to fungicide  NADPH binding  cell body fiber  cellular response to cAMP  cellular response to growth factor stimulus  cellular response to estradiol stimulus  cellular response to testosterone stimulus  cellular response to dexamethasone stimulus  cellular response to epinephrine stimulus  
Ontology : EGO-EBIurogenital system development  liver development  3-oxo-5-alpha-steroid 4-dehydrogenase activity  3-oxo-5-alpha-steroid 4-dehydrogenase activity  endoplasmic reticulum membrane  steroid biosynthetic process  androgen biosynthetic process  androgen biosynthetic process  sex determination  male gonad development  electron carrier activity  cellular response to starvation  response to muscle activity  integral component of membrane  diterpenoid metabolic process  spinal cord development  hippocampus development  thalamus development  hypothalamus development  pituitary gland development  cerebral cortex development  cell differentiation  male genitalia development  female genitalia development  organelle membrane  response to follicle-stimulating hormone  cellular response to insulin stimulus  amide binding  serotonin metabolic process  progesterone metabolic process  response to drug  circadian sleep/wake cycle, REM sleep  neuronal cell body  myelin sheath  response to estrogen  cholestenone 5-alpha-reductase activity  perinuclear region of cytoplasm  oxidation-reduction process  bone development  response to growth hormone  response to fungicide  NADPH binding  cell body fiber  cellular response to cAMP  cellular response to growth factor stimulus  cellular response to estradiol stimulus  cellular response to testosterone stimulus  cellular response to dexamethasone stimulus  cellular response to epinephrine stimulus  
Pathways : KEGGSteroid hormone biosynthesis   
NDEx NetworkSRD5A1
Atlas of Cancer Signalling NetworkSRD5A1
Wikipedia pathwaysSRD5A1
Orthology - Evolution
OrthoDB6715
GeneTree (enSembl)ENSG00000145545
Phylogenetic Trees/Animal Genes : TreeFamSRD5A1
HOVERGENP18405
HOGENOMP18405
Homologs : HomoloGeneSRD5A1
Homology/Alignments : Family Browser (UCSC)SRD5A1
Gene fusions - Rearrangements
Fusion : MitelmanPAPD7/SRD5A1 [5p15.31/5p15.31]  [t(5;5)(p15;p15)]  
Fusion : MitelmanSRD5A1/ADAMTS16 [5p15.31/5p15.32]  [t(5;5)(p15;p15)]  
Fusion: TCGAPAPD7 5p15.31 SRD5A1 5p15.31 BRCA
Fusion: TCGASRD5A1 5p15.31 ADAMTS16 5p15.32 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSRD5A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SRD5A1
dbVarSRD5A1
ClinVarSRD5A1
1000_GenomesSRD5A1 
Exome Variant ServerSRD5A1
ExAC (Exome Aggregation Consortium)SRD5A1 (select the gene name)
Genetic variants : HAPMAP6715
Genomic Variants (DGV)SRD5A1 [DGVbeta]
DECIPHERSRD5A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSRD5A1 
Mutations
ICGC Data PortalSRD5A1 
TCGA Data PortalSRD5A1 
Broad Tumor PortalSRD5A1
OASIS PortalSRD5A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSRD5A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSRD5A1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SRD5A1
DgiDB (Drug Gene Interaction Database)SRD5A1
DoCM (Curated mutations)SRD5A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SRD5A1 (select a term)
intoGenSRD5A1
Cancer3DSRD5A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM184753   
Orphanet
MedgenSRD5A1
Genetic Testing Registry SRD5A1
NextProtP18405 [Medical]
TSGene6715
GENETestsSRD5A1
Target ValidationSRD5A1
Huge Navigator SRD5A1 [HugePedia]
snp3D : Map Gene to Disease6715
BioCentury BCIQSRD5A1
ClinGenSRD5A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6715
Chemical/Pharm GKB GenePA36112
Clinical trialSRD5A1
Miscellaneous
canSAR (ICR)SRD5A1 (select the gene name)
Probes
Litterature
PubMed90 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSRD5A1
EVEXSRD5A1
GoPubMedSRD5A1
iHOPSRD5A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:57:22 CEST 2017

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