Atlas of Genetics and Cytogenetics in Oncology and Haematology


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AKR1D1 (aldo-keto reductase family 1 member D1)

Identity

Alias_namesSRD5B1
aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)
Other alias3o5bred
CBAS2
HGNC (Hugo) AKR1D1
LocusID (NCBI) 6718
Atlas_Id 60234
Location 7q33  [Link to chromosome band 7q33]
Location_base_pair Starts at 138076432 and ends at 138118304 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
SYPL1 (7q22.3) / AKR1D1 (7q33)

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)AKR1D1   388
Cards
Entrez_Gene (NCBI)AKR1D1  6718  aldo-keto reductase family 1 member D1
Aliases3o5bred; CBAS2; SRD5B1
GeneCards (Weizmann)AKR1D1
Ensembl hg19 (Hinxton)ENSG00000122787 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000122787 [Gene_View]  chr7:138076432-138118304 [Contig_View]  AKR1D1 [Vega]
ICGC DataPortalENSG00000122787
TCGA cBioPortalAKR1D1
AceView (NCBI)AKR1D1
Genatlas (Paris)AKR1D1
WikiGenes6718
SOURCE (Princeton)AKR1D1
Genetics Home Reference (NIH)AKR1D1
Genomic and cartography
GoldenPath hg38 (UCSC)AKR1D1  -     chr7:138076432-138118304 +  7q33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AKR1D1  -     7q33   [Description]    (hg19-Feb_2009)
EnsemblAKR1D1 - 7q33 [CytoView hg19]  AKR1D1 - 7q33 [CytoView hg38]
Mapping of homologs : NCBIAKR1D1 [Mapview hg19]  AKR1D1 [Mapview hg38]
OMIM235555   604741   
Gene and transcription
Genbank (Entrez)AK058142 AK289425 AK298421 AK298428 BC130625
RefSeq transcript (Entrez)NM_001190906 NM_001190907 NM_005989
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AKR1D1
Cluster EST : UnigeneHs.740214 [ NCBI ]
CGAP (NCI)Hs.740214
Alternative Splicing GalleryENSG00000122787
Gene ExpressionAKR1D1 [ NCBI-GEO ]   AKR1D1 [ EBI - ARRAY_EXPRESS ]   AKR1D1 [ SEEK ]   AKR1D1 [ MEM ]
Gene Expression Viewer (FireBrowse)AKR1D1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6718
GTEX Portal (Tissue expression)AKR1D1
Human Protein AtlasENSG00000122787-AKR1D1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP51857   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP51857  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP51857
Splice isoforms : SwissVarP51857
PhosPhoSitePlusP51857
Domaine pattern : Prosite (Expaxy)ALDOKETO_REDUCTASE_1 (PS00798)    ALDOKETO_REDUCTASE_2 (PS00062)    ALDOKETO_REDUCTASE_3 (PS00063)   
Domains : Interpro (EBI)Aldo/ket_reductase_CS    Aldo/keto_reductase    NADP_OxRdtase_dom   
Domain families : Pfam (Sanger)Aldo_ket_red (PF00248)   
Domain families : Pfam (NCBI)pfam00248   
Conserved Domain (NCBI)AKR1D1
DMDM Disease mutations6718
Blocks (Seattle)AKR1D1
PDB (SRS)3BUR    3BUV    3BV7    3CAQ    3CAS    3CAV    3CMF    3COT    3DOP    3G1R    3UZW    3UZX    3UZY    3UZZ   
PDB (PDBSum)3BUR    3BUV    3BV7    3CAQ    3CAS    3CAV    3CMF    3COT    3DOP    3G1R    3UZW    3UZX    3UZY    3UZZ   
PDB (IMB)3BUR    3BUV    3BV7    3CAQ    3CAS    3CAV    3CMF    3COT    3DOP    3G1R    3UZW    3UZX    3UZY    3UZZ   
PDB (RSDB)3BUR    3BUV    3BV7    3CAQ    3CAS    3CAV    3CMF    3COT    3DOP    3G1R    3UZW    3UZX    3UZY    3UZZ   
Structural Biology KnowledgeBase3BUR    3BUV    3BV7    3CAQ    3CAS    3CAV    3CMF    3COT    3DOP    3G1R    3UZW    3UZX    3UZY    3UZZ   
SCOP (Structural Classification of Proteins)3BUR    3BUV    3BV7    3CAQ    3CAS    3CAV    3CMF    3COT    3DOP    3G1R    3UZW    3UZX    3UZY    3UZZ   
CATH (Classification of proteins structures)3BUR    3BUV    3BV7    3CAQ    3CAS    3CAV    3CMF    3COT    3DOP    3G1R    3UZW    3UZX    3UZY    3UZZ   
SuperfamilyP51857
Human Protein Atlas [tissue]ENSG00000122787-AKR1D1 [tissue]
Peptide AtlasP51857
HPRD07263
IPIIPI00020955   IPI00939806   IPI00910349   IPI00926608   IPI00926837   
Protein Interaction databases
DIP (DOE-UCLA)P51857
IntAct (EBI)P51857
FunCoupENSG00000122787
BioGRIDAKR1D1
STRING (EMBL)AKR1D1
ZODIACAKR1D1
Ontologies - Pathways
QuickGOP51857
Ontology : AmiGOaldo-keto reductase (NADP) activity  steroid binding  cytosol  cytosol  bile acid biosynthetic process  bile acid biosynthetic process  cholesterol catabolic process  digestion  C21-steroid hormone metabolic process  androgen metabolic process  bile acid catabolic process  delta4-3-oxosteroid 5beta-reductase activity  oxidation-reduction process  extracellular exosome  
Ontology : EGO-EBIaldo-keto reductase (NADP) activity  steroid binding  cytosol  cytosol  bile acid biosynthetic process  bile acid biosynthetic process  cholesterol catabolic process  digestion  C21-steroid hormone metabolic process  androgen metabolic process  bile acid catabolic process  delta4-3-oxosteroid 5beta-reductase activity  oxidation-reduction process  extracellular exosome  
Pathways : KEGGPrimary bile acid biosynthesis    Steroid hormone biosynthesis   
NDEx NetworkAKR1D1
Atlas of Cancer Signalling NetworkAKR1D1
Wikipedia pathwaysAKR1D1
Orthology - Evolution
OrthoDB6718
GeneTree (enSembl)ENSG00000122787
Phylogenetic Trees/Animal Genes : TreeFamAKR1D1
HOVERGENP51857
HOGENOMP51857
Homologs : HomoloGeneAKR1D1
Homology/Alignments : Family Browser (UCSC)AKR1D1
Gene fusions - Rearrangements
Fusion: Tumor Portal AKR1D1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAKR1D1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AKR1D1
dbVarAKR1D1
ClinVarAKR1D1
1000_GenomesAKR1D1 
Exome Variant ServerAKR1D1
ExAC (Exome Aggregation Consortium)ENSG00000122787
GNOMAD BrowserENSG00000122787
Genetic variants : HAPMAP6718
Genomic Variants (DGV)AKR1D1 [DGVbeta]
DECIPHERAKR1D1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAKR1D1 
Mutations
ICGC Data PortalAKR1D1 
TCGA Data PortalAKR1D1 
Broad Tumor PortalAKR1D1
OASIS PortalAKR1D1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAKR1D1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAKR1D1
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)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch AKR1D1
DgiDB (Drug Gene Interaction Database)AKR1D1
DoCM (Curated mutations)AKR1D1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AKR1D1 (select a term)
intoGenAKR1D1
Cancer3DAKR1D1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM235555    604741   
Orphanet11329   
MedgenAKR1D1
Genetic Testing Registry AKR1D1
NextProtP51857 [Medical]
TSGene6718
GENETestsAKR1D1
Target ValidationAKR1D1
Huge Navigator AKR1D1 [HugePedia]
snp3D : Map Gene to Disease6718
BioCentury BCIQAKR1D1
ClinGenAKR1D1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6718
Chemical/Pharm GKB GenePA24681
Clinical trialAKR1D1
Miscellaneous
canSAR (ICR)AKR1D1 (select the gene name)
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAKR1D1
EVEXAKR1D1
GoPubMedAKR1D1
iHOPAKR1D1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 11:37:24 CET 2017

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