Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SRD5A3 (steroid 5 alpha-reductase 3)

Identity

Alias_symbol (synonym)FLJ13352
SRD5A2L
SRD5A2L1
Other aliasCDG1P
CDG1Q
KRIZI
HGNC (Hugo) SRD5A3
LocusID (NCBI) 79644
Atlas_Id 50048
Location 4q12  [Link to chromosome band 4q12]
Location_base_pair Starts at 55346221 and ends at 55373099 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CLOCK (4q12) / SRD5A3 (4q12)SRD5A3 (4q12) / SRD5A3 (4q12)CLOCK 4q12 / SRD5A3 4q12

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)SRD5A3   25812
Cards
Entrez_Gene (NCBI)SRD5A3  79644  steroid 5 alpha-reductase 3
AliasesCDG1P; CDG1Q; KRIZI; SRD5A2L; 
SRD5A2L1
GeneCards (Weizmann)SRD5A3
Ensembl hg19 (Hinxton)ENSG00000128039 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000128039 [Gene_View]  chr4:55346221-55373099 [Contig_View]  SRD5A3 [Vega]
ICGC DataPortalENSG00000128039
TCGA cBioPortalSRD5A3
AceView (NCBI)SRD5A3
Genatlas (Paris)SRD5A3
WikiGenes79644
SOURCE (Princeton)SRD5A3
Genetics Home Reference (NIH)SRD5A3
Genomic and cartography
GoldenPath hg38 (UCSC)SRD5A3  -     chr4:55346221-55373099 +  4q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SRD5A3  -     4q12   [Description]    (hg19-Feb_2009)
EnsemblSRD5A3 - 4q12 [CytoView hg19]  SRD5A3 - 4q12 [CytoView hg38]
Mapping of homologs : NCBISRD5A3 [Mapview hg19]  SRD5A3 [Mapview hg38]
OMIM611715   612379   612713   
Gene and transcription
Genbank (Entrez)AK023414 BC002480 CR457312 CX763068 DB532427
RefSeq transcript (Entrez)NM_024592
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SRD5A3
Cluster EST : UnigeneHs.39311 [ NCBI ]
CGAP (NCI)Hs.39311
Alternative Splicing GalleryENSG00000128039
Gene ExpressionSRD5A3 [ NCBI-GEO ]   SRD5A3 [ EBI - ARRAY_EXPRESS ]   SRD5A3 [ SEEK ]   SRD5A3 [ MEM ]
Gene Expression Viewer (FireBrowse)SRD5A3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79644
GTEX Portal (Tissue expression)SRD5A3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H8P0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H8P0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H8P0
Splice isoforms : SwissVarQ9H8P0
Catalytic activity : Enzyme1.3.1.94 [ Enzyme-Expasy ]   1.3.1.941.3.1.94 [ IntEnz-EBI ]   1.3.1.94 [ BRENDA ]   1.3.1.94 [ KEGG ]   
PhosPhoSitePlusQ9H8P0
Domaine pattern : Prosite (Expaxy)S5A_REDUCTASE (PS50244)   
Domains : Interpro (EBI)3-oxo-5_a-steroid_4-DH_C   
Domain families : Pfam (Sanger)Steroid_dh (PF02544)   
Domain families : Pfam (NCBI)pfam02544   
Conserved Domain (NCBI)SRD5A3
DMDM Disease mutations79644
Blocks (Seattle)SRD5A3
SuperfamilyQ9H8P0
Human Protein AtlasENSG00000128039
Peptide AtlasQ9H8P0
HPRD07825
IPIIPI00002344   IPI00966825   
Protein Interaction databases
DIP (DOE-UCLA)Q9H8P0
IntAct (EBI)Q9H8P0
FunCoupENSG00000128039
BioGRIDSRD5A3
STRING (EMBL)SRD5A3
ZODIACSRD5A3
Ontologies - Pathways
QuickGOQ9H8P0
Ontology : AmiGO3-oxo-5-alpha-steroid 4-dehydrogenase activity  3-oxo-5-alpha-steroid 4-dehydrogenase activity  endoplasmic reticulum  endoplasmic reticulum membrane  protein glycosylation  dolichol-linked oligosaccharide biosynthetic process  dolichyl diphosphate biosynthetic process  androgen biosynthetic process  integral component of membrane  polyprenol catabolic process  oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor  oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor  dolichol metabolic process  cholestenone 5-alpha-reductase activity  oxidation-reduction process  
Ontology : EGO-EBI3-oxo-5-alpha-steroid 4-dehydrogenase activity  3-oxo-5-alpha-steroid 4-dehydrogenase activity  endoplasmic reticulum  endoplasmic reticulum membrane  protein glycosylation  dolichol-linked oligosaccharide biosynthetic process  dolichyl diphosphate biosynthetic process  androgen biosynthetic process  integral component of membrane  polyprenol catabolic process  oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor  oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor  dolichol metabolic process  cholestenone 5-alpha-reductase activity  oxidation-reduction process  
Pathways : KEGGSteroid hormone biosynthesis   
NDEx NetworkSRD5A3
Atlas of Cancer Signalling NetworkSRD5A3
Wikipedia pathwaysSRD5A3
Orthology - Evolution
OrthoDB79644
GeneTree (enSembl)ENSG00000128039
Phylogenetic Trees/Animal Genes : TreeFamSRD5A3
HOVERGENQ9H8P0
HOGENOMQ9H8P0
Homologs : HomoloGeneSRD5A3
Homology/Alignments : Family Browser (UCSC)SRD5A3
Gene fusions - Rearrangements
Fusion: TCGACLOCK 4q12 SRD5A3 4q12 LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSRD5A3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SRD5A3
dbVarSRD5A3
ClinVarSRD5A3
1000_GenomesSRD5A3 
Exome Variant ServerSRD5A3
ExAC (Exome Aggregation Consortium)SRD5A3 (select the gene name)
Genetic variants : HAPMAP79644
Genomic Variants (DGV)SRD5A3 [DGVbeta]
DECIPHERSRD5A3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSRD5A3 
Mutations
ICGC Data PortalSRD5A3 
TCGA Data PortalSRD5A3 
Broad Tumor PortalSRD5A3
OASIS PortalSRD5A3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSRD5A3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSRD5A3
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
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch SRD5A3
DgiDB (Drug Gene Interaction Database)SRD5A3
DoCM (Curated mutations)SRD5A3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SRD5A3 (select a term)
intoGenSRD5A3
Cancer3DSRD5A3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611715    612379    612713   
Orphanet21803   
MedgenSRD5A3
Genetic Testing Registry SRD5A3
NextProtQ9H8P0 [Medical]
TSGene79644
GENETestsSRD5A3
Target ValidationSRD5A3
Huge Navigator SRD5A3 [HugePedia]
snp3D : Map Gene to Disease79644
BioCentury BCIQSRD5A3
ClinGenSRD5A3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79644
Chemical/Pharm GKB GenePA162404779
Clinical trialSRD5A3
Miscellaneous
canSAR (ICR)SRD5A3 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSRD5A3
EVEXSRD5A3
GoPubMedSRD5A3
iHOPSRD5A3
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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