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SPR (sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase))

Identity

Alias_namesmember 1
Alias_symbol (synonym)SDR38C1
Other alias
HGNC (Hugo) SPR
LocusID (NCBI) 6697
Atlas_Id 56366
Location 2p13.2  [Link to chromosome band 2p13]
Location_base_pair Starts at 72887383 and ends at 72892160 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)		RNASE1 (14q11.2) / SPR (2p13.2)S100A6 (1q21.3) / SPR (2p13.2)SPR (2p13.2) / RNASE1 (14q11.2)

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)SPR   11257
Cards
Entrez_Gene (NCBI)SPR  6697  sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
AliasesSDR38C1
GeneCards (Weizmann)SPR
Ensembl hg19 (Hinxton)ENSG00000116096 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000116096 [Gene_View]  chr2:72887383-72892160 [Contig_View]  SPR [Vega]
ICGC DataPortalENSG00000116096
TCGA cBioPortalSPR
AceView (NCBI)SPR
Genatlas (Paris)SPR
WikiGenes6697
SOURCE (Princeton)SPR
Genetics Home Reference (NIH)SPR
Genomic and cartography
GoldenPath hg38 (UCSC)SPR  -     chr2:72887383-72892160 +  2p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SPR  -     2p13.2   [Description]    (hg19-Feb_2009)
EnsemblSPR - 2p13.2 [CytoView hg19]  SPR - 2p13.2 [CytoView hg38]
Mapping of homologs : NCBISPR [Mapview hg19]  SPR [Mapview hg38]
OMIM182125   612716   
Gene and transcription
Genbank (Entrez)AK222942 AK291856 BC017310 BF434649 DQ891699
RefSeq transcript (Entrez)NM_003124
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SPR
Cluster EST : UnigeneHs.301540 [ NCBI ]
CGAP (NCI)Hs.301540
Alternative Splicing GalleryENSG00000116096
Gene ExpressionSPR [ NCBI-GEO ]   SPR [ EBI - ARRAY_EXPRESS ]   SPR [ SEEK ]   SPR [ MEM ]
Gene Expression Viewer (FireBrowse)SPR [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6697
GTEX Portal (Tissue expression)SPR
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35270   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP35270  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP35270
Splice isoforms : SwissVarP35270
PhosPhoSitePlusP35270
Domains : Interpro (EBI)NAD(P)-bd_dom    SDR_fam    Sepiapterin_red   
Domain families : Pfam (Sanger)adh_short (PF00106)   
Domain families : Pfam (NCBI)pfam00106   
Conserved Domain (NCBI)SPR
DMDM Disease mutations6697
Blocks (Seattle)SPR
PDB (SRS)1Z6Z    4HWK    4J7U    4J7X    4XWY    4Z3K   
PDB (PDBSum)1Z6Z    4HWK    4J7U    4J7X    4XWY    4Z3K   
PDB (IMB)1Z6Z    4HWK    4J7U    4J7X    4XWY    4Z3K   
PDB (RSDB)1Z6Z    4HWK    4J7U    4J7X    4XWY    4Z3K   
Structural Biology KnowledgeBase1Z6Z    4HWK    4J7U    4J7X    4XWY    4Z3K   
SCOP (Structural Classification of Proteins)1Z6Z    4HWK    4J7U    4J7X    4XWY    4Z3K   
CATH (Classification of proteins structures)1Z6Z    4HWK    4J7U    4J7X    4XWY    4Z3K   
SuperfamilyP35270
Human Protein AtlasENSG00000116096
Peptide AtlasP35270
HPRD01632
IPIIPI00017469   
Protein Interaction databases
DIP (DOE-UCLA)P35270
IntAct (EBI)P35270
FunCoupENSG00000116096
BioGRIDSPR
STRING (EMBL)SPR
ZODIACSPR
Ontologies - Pathways
QuickGOP35270
Ontology : AmiGOaldo-keto reductase (NADP) activity  sepiapterin reductase activity  sepiapterin reductase activity  nucleoplasm  cytosol  cytosol  tetrahydrobiopterin biosynthetic process  nitric oxide biosynthetic process  NADP binding  regulation of nitric-oxide synthase activity  oxidation-reduction process  extracellular exosome  
Ontology : EGO-EBIaldo-keto reductase (NADP) activity  sepiapterin reductase activity  sepiapterin reductase activity  nucleoplasm  cytosol  cytosol  tetrahydrobiopterin biosynthetic process  nitric oxide biosynthetic process  NADP binding  regulation of nitric-oxide synthase activity  oxidation-reduction process  extracellular exosome  
Pathways : KEGGFolate biosynthesis   
NDEx NetworkSPR
Atlas of Cancer Signalling NetworkSPR
Wikipedia pathwaysSPR
Orthology - Evolution
OrthoDB6697
GeneTree (enSembl)ENSG00000116096
Phylogenetic Trees/Animal Genes : TreeFamSPR
HOVERGENP35270
HOGENOMP35270
Homologs : HomoloGeneSPR
Homology/Alignments : Family Browser (UCSC)SPR
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPR
dbVarSPR
ClinVarSPR
1000_GenomesSPR 
Exome Variant ServerSPR
ExAC (Exome Aggregation Consortium)SPR (select the gene name)
Genetic variants : HAPMAP6697
Genomic Variants (DGV)SPR [DGVbeta]
DECIPHERSPR [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSPR 
Mutations
ICGC Data PortalSPR 
TCGA Data PortalSPR 
Broad Tumor PortalSPR
OASIS PortalSPR [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPR  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSPR
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch SPR
DgiDB (Drug Gene Interaction Database)SPR
DoCM (Curated mutations)SPR (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SPR (select a term)
intoGenSPR
Cancer3DSPR(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM182125    612716   
Orphanet10965   
MedgenSPR
Genetic Testing Registry SPR
NextProtP35270 [Medical]
TSGene6697
GENETestsSPR
Target ValidationSPR
Huge Navigator SPR [HugePedia]
snp3D : Map Gene to Disease6697
BioCentury BCIQSPR
ClinGenSPR
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6697
Chemical/Pharm GKB GenePA36087
Clinical trialSPR
Miscellaneous
canSAR (ICR)SPR (select the gene name)
Probes
Litterature
PubMed41 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSPR
EVEXSPR
GoPubMedSPR
iHOPSPR
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 12:57:15 CEST 2017
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