Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PIN1 (peptidylprolyl cis/trans isomerase, NIMA-interacting 1)

Identity

Alias_namesprotein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1
Alias_symbol (synonym)dod
Other aliasDOD
UBL5
HGNC (Hugo) PIN1
LocusID (NCBI) 5300
Atlas_Id 467
Location 19p13.2  [Link to chromosome band 19p13]
Location_base_pair Starts at 9835207 and ends at 9849689 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DNM2 (19p13.2) / PIN1 (19p13.2)PTPRZ1 (7q31.32) / PIN1 (19p13.2)

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)PIN1   8988
LRG (Locus Reference Genomic)LRG_847
Cards
Entrez_Gene (NCBI)PIN1  5300  peptidylprolyl cis/trans isomerase, NIMA-interacting 1
AliasesDOD; UBL5
GeneCards (Weizmann)PIN1
Ensembl hg19 (Hinxton)ENSG00000127445 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000127445 [Gene_View]  chr19:9835207-9849689 [Contig_View]  PIN1 [Vega]
ICGC DataPortalENSG00000127445
TCGA cBioPortalPIN1
AceView (NCBI)PIN1
Genatlas (Paris)PIN1
WikiGenes5300
SOURCE (Princeton)PIN1
Genetics Home Reference (NIH)PIN1
Genomic and cartography
GoldenPath hg38 (UCSC)PIN1  -     chr19:9835207-9849689 +  19p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PIN1  -     19p13.2   [Description]    (hg19-Feb_2009)
EnsemblPIN1 - 19p13.2 [CytoView hg19]  PIN1 - 19p13.2 [CytoView hg38]
Mapping of homologs : NCBIPIN1 [Mapview hg19]  PIN1 [Mapview hg38]
OMIM601052   
Gene and transcription
Genbank (Entrez)AF086512 AK092970 AK097558 AK291074 BC002899
RefSeq transcript (Entrez)NM_006221
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PIN1
Cluster EST : UnigeneHs.465849 [ NCBI ]
CGAP (NCI)Hs.465849
Alternative Splicing GalleryENSG00000127445
Gene ExpressionPIN1 [ NCBI-GEO ]   PIN1 [ EBI - ARRAY_EXPRESS ]   PIN1 [ SEEK ]   PIN1 [ MEM ]
Gene Expression Viewer (FireBrowse)PIN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5300
GTEX Portal (Tissue expression)PIN1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13526   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13526  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13526
Splice isoforms : SwissVarQ13526
Catalytic activity : Enzyme5.2.1.8 [ Enzyme-Expasy ]   5.2.1.85.2.1.8 [ IntEnz-EBI ]   5.2.1.8 [ BRENDA ]   5.2.1.8 [ KEGG ]   
PhosPhoSitePlusQ13526
Domaine pattern : Prosite (Expaxy)PPIC_PPIASE_1 (PS01096)    PPIC_PPIASE_2 (PS50198)    WW_DOMAIN_1 (PS01159)    WW_DOMAIN_2 (PS50020)   
Domains : Interpro (EBI)PPIase_PpiC    PPIase_PpiC_CS    WW_dom   
Domain families : Pfam (Sanger)Rotamase (PF00639)    WW (PF00397)   
Domain families : Pfam (NCBI)pfam00639    pfam00397   
Domain families : Smart (EMBL)WW (SM00456)  
Conserved Domain (NCBI)PIN1
DMDM Disease mutations5300
Blocks (Seattle)PIN1
PDB (SRS)###############################################################################################################################################################################################################################################################   
PDB (PDBSum)###############################################################################################################################################################################################################################################################   
PDB (IMB)###############################################################################################################################################################################################################################################################   
PDB (RSDB)###############################################################################################################################################################################################################################################################   
Structural Biology KnowledgeBase###############################################################################################################################################################################################################################################################   
SCOP (Structural Classification of Proteins)###############################################################################################################################################################################################################################################################   
CATH (Classification of proteins structures)###############################################################################################################################################################################################################################################################   
SuperfamilyQ13526
Human Protein AtlasENSG00000127445
Peptide AtlasQ13526
HPRD03031
IPIIPI00013723   IPI00903344   IPI00644298   
Protein Interaction databases
DIP (DOE-UCLA)Q13526
IntAct (EBI)Q13526
FunCoupENSG00000127445
BioGRIDPIN1
STRING (EMBL)PIN1
ZODIACPIN1
Ontologies - Pathways
QuickGOQ13526
Ontology : AmiGOprotein peptidyl-prolyl isomerization  positive regulation of protein phosphorylation  peptidyl-prolyl cis-trans isomerase activity  peptidyl-prolyl cis-trans isomerase activity  motor activity  protein binding  nucleus  nucleoplasm  nucleoplasm  mitochondrion  cytosol  cell cycle  regulation of mitotic nuclear division  beta-catenin binding  beta-catenin binding  nuclear speck  neuron differentiation  midbody  negative regulation of transforming growth factor beta receptor signaling pathway  mitogen-activated protein kinase kinase binding  negative regulation of protein binding  regulation of cytokinesis  regulation of cytokinesis  negative regulation of type I interferon production  GTPase activating protein binding  positive regulation of protein dephosphorylation  negative regulation of protein catabolic process  neuron projection  negative regulation of neuron apoptotic process  positive regulation of neuron apoptotic process  positive regulation of GTPase activity  positive regulation of transcription from RNA polymerase II promoter  synapse organization  phosphoserine binding  phosphothreonine binding  phosphothreonine binding  protein stabilization  protein stabilization  positive regulation of ubiquitin-protein transferase activity  regulation of pathway-restricted SMAD protein phosphorylation  positive regulation of cell growth involved in cardiac muscle cell development  negative regulation of ERK1 and ERK2 cascade  positive regulation of canonical Wnt signaling pathway  regulation of protein localization to nucleus  regulation of signal transduction by p53 class mediator  negative regulation of cell motility  
Ontology : EGO-EBIprotein peptidyl-prolyl isomerization  positive regulation of protein phosphorylation  peptidyl-prolyl cis-trans isomerase activity  peptidyl-prolyl cis-trans isomerase activity  motor activity  protein binding  nucleus  nucleoplasm  nucleoplasm  mitochondrion  cytosol  cell cycle  regulation of mitotic nuclear division  beta-catenin binding  beta-catenin binding  nuclear speck  neuron differentiation  midbody  negative regulation of transforming growth factor beta receptor signaling pathway  mitogen-activated protein kinase kinase binding  negative regulation of protein binding  regulation of cytokinesis  regulation of cytokinesis  negative regulation of type I interferon production  GTPase activating protein binding  positive regulation of protein dephosphorylation  negative regulation of protein catabolic process  neuron projection  negative regulation of neuron apoptotic process  positive regulation of neuron apoptotic process  positive regulation of GTPase activity  positive regulation of transcription from RNA polymerase II promoter  synapse organization  phosphoserine binding  phosphothreonine binding  phosphothreonine binding  protein stabilization  protein stabilization  positive regulation of ubiquitin-protein transferase activity  regulation of pathway-restricted SMAD protein phosphorylation  positive regulation of cell growth involved in cardiac muscle cell development  negative regulation of ERK1 and ERK2 cascade  positive regulation of canonical Wnt signaling pathway  regulation of protein localization to nucleus  regulation of signal transduction by p53 class mediator  negative regulation of cell motility  
Pathways : BIOCARTAHow Progesterone Initiates the Oocyte Maturation [Genes]   
Pathways : KEGGRIG-I-like receptor signaling pathway   
NDEx NetworkPIN1
Atlas of Cancer Signalling NetworkPIN1
Wikipedia pathwaysPIN1
Orthology - Evolution
OrthoDB5300
GeneTree (enSembl)ENSG00000127445
Phylogenetic Trees/Animal Genes : TreeFamPIN1
HOVERGENQ13526
HOGENOMQ13526
Homologs : HomoloGenePIN1
Homology/Alignments : Family Browser (UCSC)PIN1
Gene fusions - Rearrangements
Fusion : MitelmanDNM2/PIN1 [19p13.2/19p13.2]  [t(19;19)(p13;p13)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPIN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PIN1
dbVarPIN1
ClinVarPIN1
1000_GenomesPIN1 
Exome Variant ServerPIN1
ExAC (Exome Aggregation Consortium)PIN1 (select the gene name)
Genetic variants : HAPMAP5300
Genomic Variants (DGV)PIN1 [DGVbeta]
DECIPHERPIN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPIN1 
Mutations
ICGC Data PortalPIN1 
TCGA Data PortalPIN1 
Broad Tumor PortalPIN1
OASIS PortalPIN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPIN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPIN1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch PIN1
DgiDB (Drug Gene Interaction Database)PIN1
DoCM (Curated mutations)PIN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PIN1 (select a term)
intoGenPIN1
Cancer3DPIN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601052   
Orphanet
MedgenPIN1
Genetic Testing Registry PIN1
NextProtQ13526 [Medical]
TSGene5300
GENETestsPIN1
Target ValidationPIN1
Huge Navigator PIN1 [HugePedia]
snp3D : Map Gene to Disease5300
BioCentury BCIQPIN1
ClinGenPIN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5300
Chemical/Pharm GKB GenePA33320
Clinical trialPIN1
Miscellaneous
canSAR (ICR)PIN1 (select the gene name)
Probes
Litterature
PubMed345 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePIN1
EVEXPIN1
GoPubMedPIN1
iHOPPIN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:49:32 CEST 2017

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