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PYCR1 (pyrroline-5-carboxylate reductase 1)

Identity

Other aliasARCL2B
ARCL3B
P5C
P5CR
PIG45
PP222
PRO3
PYCR
HGNC (Hugo) PYCR1
LocusID (NCBI) 5831
Atlas_Id 56746
Location 17q25.3  [Link to chromosome band 17q25]
Location_base_pair Starts at 81932386 and ends at 81937328 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)
PYCR1 (17q25.3) / NOTUM (17q25.3)

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)PYCR1   9721
Cards
Entrez_Gene (NCBI)PYCR1  5831  pyrroline-5-carboxylate reductase 1
AliasesARCL2B; ARCL3B; P5C; P5CR; 
PIG45; PP222; PRO3; PYCR
GeneCards (Weizmann)PYCR1
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chr17:81932386-81937328 [Contig_View]  PYCR1 [Vega]
TCGA cBioPortalPYCR1
AceView (NCBI)PYCR1
Genatlas (Paris)PYCR1
WikiGenes5831
SOURCE (Princeton)PYCR1
Genetics Home Reference (NIH)PYCR1
Genomic and cartography
GoldenPath hg38 (UCSC)PYCR1  -     chr17:81932386-81937328 -  17q25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PYCR1  -     17q25.3   [Description]    (hg19-Feb_2009)
EnsemblPYCR1 - 17q25.3 [CytoView hg19]  PYCR1 - 17q25.3 [CytoView hg38]
Mapping of homologs : NCBIPYCR1 [Mapview hg19]  PYCR1 [Mapview hg38]
OMIM179035   612940   614438   
Gene and transcription
Genbank (Entrez)AA026075 AF218000 AK225879 AK297627 AK303852
RefSeq transcript (Entrez)NM_001282279 NM_001282280 NM_001282281 NM_001330523 NM_006907 NM_153824
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PYCR1
Cluster EST : UnigeneHs.163451 [ NCBI ]
CGAP (NCI)Hs.163451
Gene ExpressionPYCR1 [ NCBI-GEO ]   PYCR1 [ EBI - ARRAY_EXPRESS ]   PYCR1 [ SEEK ]   PYCR1 [ MEM ]
Gene Expression Viewer (FireBrowse)PYCR1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5831
GTEX Portal (Tissue expression)PYCR1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP32322   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP32322  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP32322
Splice isoforms : SwissVarP32322
PhosPhoSitePlusP32322
Domaine pattern : Prosite (Expaxy)P5CR (PS00521)   
Domains : Interpro (EBI)6-PGluconate_DH_C-like    NAD(P)-bd_dom    P5C_Rdtase_cat_N    P5CR_dimer    Pyrroline-COOH_reductase   
Domain families : Pfam (Sanger)F420_oxidored (PF03807)    P5CR_dimer (PF14748)   
Domain families : Pfam (NCBI)pfam03807    pfam14748   
Conserved Domain (NCBI)PYCR1
DMDM Disease mutations5831
Blocks (Seattle)PYCR1
PDB (SRS)2GER    2GR9    2GRA    2IZZ   
PDB (PDBSum)2GER    2GR9    2GRA    2IZZ   
PDB (IMB)2GER    2GR9    2GRA    2IZZ   
PDB (RSDB)2GER    2GR9    2GRA    2IZZ   
Structural Biology KnowledgeBase2GER    2GR9    2GRA    2IZZ   
SCOP (Structural Classification of Proteins)2GER    2GR9    2GRA    2IZZ   
CATH (Classification of proteins structures)2GER    2GR9    2GRA    2IZZ   
SuperfamilyP32322
Peptide AtlasP32322
IPIIPI00941557   IPI00550882   IPI00922289   IPI00973407   IPI00260769   IPI00376503   
Protein Interaction databases
DIP (DOE-UCLA)P32322
IntAct (EBI)P32322
BioGRIDPYCR1
STRING (EMBL)PYCR1
ZODIACPYCR1
Ontologies - Pathways
QuickGOP32322
Ontology : AmiGOpyrroline-5-carboxylate reductase activity  pyrroline-5-carboxylate reductase activity  protein binding  mitochondrion  mitochondrial matrix  proline biosynthetic process  cellular amino acid biosynthetic process  cellular response to oxidative stress  identical protein binding  regulation of mitochondrial membrane potential  oxidation-reduction process  L-proline biosynthetic process  negative regulation of hydrogen peroxide-induced cell death  
Ontology : EGO-EBIpyrroline-5-carboxylate reductase activity  pyrroline-5-carboxylate reductase activity  protein binding  mitochondrion  mitochondrial matrix  proline biosynthetic process  cellular amino acid biosynthetic process  cellular response to oxidative stress  identical protein binding  regulation of mitochondrial membrane potential  oxidation-reduction process  L-proline biosynthetic process  negative regulation of hydrogen peroxide-induced cell death  
Pathways : KEGGArginine and proline metabolism   
NDEx NetworkPYCR1
Atlas of Cancer Signalling NetworkPYCR1
Wikipedia pathwaysPYCR1
Orthology - Evolution
OrthoDB5831
Phylogenetic Trees/Animal Genes : TreeFamPYCR1
HOVERGENP32322
HOGENOMP32322
Homologs : HomoloGenePYCR1
Homology/Alignments : Family Browser (UCSC)PYCR1
Gene fusions - Rearrangements
Fusion: Tumor Portal PYCR1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPYCR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PYCR1
dbVarPYCR1
ClinVarPYCR1
1000_GenomesPYCR1 
Exome Variant ServerPYCR1
ExAC (Exome Aggregation Consortium)
Genetic variants : HAPMAP5831
Genomic Variants (DGV)PYCR1 [DGVbeta]
DECIPHERPYCR1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPYCR1 
Mutations
ICGC Data PortalPYCR1 
TCGA Data PortalPYCR1 
Broad Tumor PortalPYCR1
OASIS PortalPYCR1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPYCR1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPYCR1
BioMutasearch PYCR1
DgiDB (Drug Gene Interaction Database)PYCR1
DoCM (Curated mutations)PYCR1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PYCR1 (select a term)
intoGenPYCR1
Cancer3DPYCR1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM179035    612940    614438   
Orphanet
MedgenPYCR1
Genetic Testing Registry PYCR1
NextProtP32322 [Medical]
TSGene5831
GENETestsPYCR1
Target ValidationPYCR1
Huge Navigator PYCR1 [HugePedia]
snp3D : Map Gene to Disease5831
BioCentury BCIQPYCR1
ClinGenPYCR1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5831
Chemical/Pharm GKB GenePA34064
Clinical trialPYCR1
Miscellaneous
canSAR (ICR)PYCR1 (select the gene name)
Probes
Litterature
PubMed42 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePYCR1
EVEXPYCR1
GoPubMedPYCR1
iHOPPYCR1
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 13:07:26 CET 2017

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