Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PNPT1 (polyribonucleotide nucleotidyltransferase 1)

Identity

Alias_namesDFNB70
deafness
Alias_symbol (synonym)PNPase
OLD35
old-35
Other aliasCOXPD13
PNPASE
HGNC (Hugo) PNPT1
LocusID (NCBI) 87178
Atlas_Id 45812
Location 2p16.1  [Link to chromosome band 2p16]
Location_base_pair Starts at 55634063 and ends at 55693910 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)
PNPT1 (2p16.1) / ASAP1 (8q24.21)PNPT1 (2p16.1) / PNPT1 (2p16.1)

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)PNPT1   23166
Cards
Entrez_Gene (NCBI)PNPT1  87178  polyribonucleotide nucleotidyltransferase 1
AliasesCOXPD13; DFNB70; OLD35; PNPASE; 
old-35
GeneCards (Weizmann)PNPT1
Ensembl hg19 (Hinxton)ENSG00000138035 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000138035 [Gene_View]  ENSG00000138035 [Sequence]  chr2:55634063-55693910 [Contig_View]  PNPT1 [Vega]
ICGC DataPortalENSG00000138035
TCGA cBioPortalPNPT1
AceView (NCBI)PNPT1
Genatlas (Paris)PNPT1
WikiGenes87178
SOURCE (Princeton)PNPT1
Genetics Home Reference (NIH)PNPT1
Genomic and cartography
GoldenPath hg38 (UCSC)PNPT1  -     chr2:55634063-55693910 -  2p16.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PNPT1  -     2p16.1   [Description]    (hg19-Feb_2009)
EnsemblPNPT1 - 2p16.1 [CytoView hg19]  PNPT1 - 2p16.1 [CytoView hg38]
Mapping of homologs : NCBIPNPT1 [Mapview hg19]  PNPT1 [Mapview hg38]
OMIM610316   614932   614934   
Gene and transcription
Genbank (Entrez)AJ458465 AK307589 AW731791 AY027528 AY290863
RefSeq transcript (Entrez)NM_033109
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PNPT1
Cluster EST : UnigeneHs.388733 [ NCBI ]
CGAP (NCI)Hs.388733
Alternative Splicing GalleryENSG00000138035
Gene ExpressionPNPT1 [ NCBI-GEO ]   PNPT1 [ EBI - ARRAY_EXPRESS ]   PNPT1 [ SEEK ]   PNPT1 [ MEM ]
Gene Expression Viewer (FireBrowse)PNPT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)87178
GTEX Portal (Tissue expression)PNPT1
Human Protein AtlasENSG00000138035-PNPT1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TCS8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TCS8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TCS8
Splice isoforms : SwissVarQ8TCS8
Catalytic activity : Enzyme2.7.7.8 [ Enzyme-Expasy ]   2.7.7.82.7.7.8 [ IntEnz-EBI ]   2.7.7.8 [ BRENDA ]   2.7.7.8 [ KEGG ]   
PhosPhoSitePlusQ8TCS8
Domaine pattern : Prosite (Expaxy)KH_TYPE_1 (PS50084)    S1 (PS50126)   
Domains : Interpro (EBI)ExoRNase_PH_dom1    ExoRNase_PH_dom2    KH_dom    KH_dom_type_1    NA-bd_OB-fold    PNPase    PNPase/RNase_PH_dom    PNPase_PH_RNA-bd_bac/org-type    Ribosomal_S5_D2-typ_fold    S1_dom    S1_domain   
Domain families : Pfam (Sanger)KH_1 (PF00013)    PNPase (PF03726)    RNase_PH (PF01138)    RNase_PH_C (PF03725)    S1 (PF00575)   
Domain families : Pfam (NCBI)pfam00013    pfam03726    pfam01138    pfam03725    pfam00575   
Domain families : Smart (EMBL)KH (SM00322)  S1 (SM00316)  
Conserved Domain (NCBI)PNPT1
DMDM Disease mutations87178
Blocks (Seattle)PNPT1
PDB (SRS)3U1K   
PDB (PDBSum)3U1K   
PDB (IMB)3U1K   
PDB (RSDB)3U1K   
Structural Biology KnowledgeBase3U1K   
SCOP (Structural Classification of Proteins)3U1K   
CATH (Classification of proteins structures)3U1K   
SuperfamilyQ8TCS8
Human Protein Atlas [tissue]ENSG00000138035-PNPT1 [tissue]
Peptide AtlasQ8TCS8
HPRD18493
IPIIPI00744711   IPI00894110   IPI00892680   IPI00892880   IPI00892520   
Protein Interaction databases
DIP (DOE-UCLA)Q8TCS8
IntAct (EBI)Q8TCS8
FunCoupENSG00000138035
BioGRIDPNPT1
STRING (EMBL)PNPT1
ZODIACPNPT1
Ontologies - Pathways
QuickGOQ8TCS8
Ontology : AmiGO3'-5'-exoribonuclease activity  mitochondrial RNA catabolic process  mitochondrial mRNA catabolic process  positive regulation of mitochondrial RNA catabolic process  mitochondrial RNA 5'-end processing  mitochondrial RNA 3'-end processing  RNA binding  polyribonucleotide nucleotidyltransferase activity  protein binding  nucleus  cytoplasm  mitochondrion  mitochondrial intermembrane space  endoplasmic reticulum membrane  cytosol  RNA catabolic process  mRNA catabolic process  poly(U) RNA binding  poly(G) binding  cellular response to oxidative stress  miRNA binding  cellular response to interferon-beta  RNA import into mitochondrion  rRNA import into mitochondrion  polysomal ribosome  regulation of cellular respiration  RNA polyadenylation  mitochondrial degradosome  negative regulation of growth  protein homooligomerization  response to cAMP  response to growth hormone  positive regulation of mRNA catabolic process  protein homotrimerization  mitochondrion morphogenesis  nuclear polyadenylation-dependent mRNA catabolic process  mitotic cell cycle arrest  RNA phosphodiester bond hydrolysis, exonucleolytic  mitochondrial mRNA polyadenylation  liver regeneration  positive regulation of miRNA catabolic process  regulation of cellular senescence  
Ontology : EGO-EBI3'-5'-exoribonuclease activity  mitochondrial RNA catabolic process  mitochondrial mRNA catabolic process  positive regulation of mitochondrial RNA catabolic process  mitochondrial RNA 5'-end processing  mitochondrial RNA 3'-end processing  RNA binding  polyribonucleotide nucleotidyltransferase activity  protein binding  nucleus  cytoplasm  mitochondrion  mitochondrial intermembrane space  endoplasmic reticulum membrane  cytosol  RNA catabolic process  mRNA catabolic process  poly(U) RNA binding  poly(G) binding  cellular response to oxidative stress  miRNA binding  cellular response to interferon-beta  RNA import into mitochondrion  rRNA import into mitochondrion  polysomal ribosome  regulation of cellular respiration  RNA polyadenylation  mitochondrial degradosome  negative regulation of growth  protein homooligomerization  response to cAMP  response to growth hormone  positive regulation of mRNA catabolic process  protein homotrimerization  mitochondrion morphogenesis  nuclear polyadenylation-dependent mRNA catabolic process  mitotic cell cycle arrest  RNA phosphodiester bond hydrolysis, exonucleolytic  mitochondrial mRNA polyadenylation  liver regeneration  positive regulation of miRNA catabolic process  regulation of cellular senescence  
Pathways : KEGGPyrimidine metabolism    Purine metabolism   
NDEx NetworkPNPT1
Atlas of Cancer Signalling NetworkPNPT1
Wikipedia pathwaysPNPT1
Orthology - Evolution
OrthoDB87178
GeneTree (enSembl)ENSG00000138035
Phylogenetic Trees/Animal Genes : TreeFamPNPT1
HOVERGENQ8TCS8
HOGENOMQ8TCS8
Homologs : HomoloGenePNPT1
Homology/Alignments : Family Browser (UCSC)PNPT1
Gene fusions - Rearrangements
Fusion : QuiverPNPT1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPNPT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PNPT1
dbVarPNPT1
ClinVarPNPT1
1000_GenomesPNPT1 
Exome Variant ServerPNPT1
ExAC (Exome Aggregation Consortium)ENSG00000138035
GNOMAD BrowserENSG00000138035
Genetic variants : HAPMAP87178
Genomic Variants (DGV)PNPT1 [DGVbeta]
DECIPHERPNPT1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPNPT1 
Mutations
ICGC Data PortalPNPT1 
TCGA Data PortalPNPT1 
Broad Tumor PortalPNPT1
OASIS PortalPNPT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPNPT1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPNPT1
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 PNPT1
DgiDB (Drug Gene Interaction Database)PNPT1
DoCM (Curated mutations)PNPT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PNPT1 (select a term)
intoGenPNPT1
Cancer3DPNPT1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610316    614932    614934   
Orphanet21665    12047   
DisGeNETPNPT1
MedgenPNPT1
Genetic Testing Registry PNPT1
NextProtQ8TCS8 [Medical]
TSGene87178
GENETestsPNPT1
Target ValidationPNPT1
Huge Navigator PNPT1 [HugePedia]
snp3D : Map Gene to Disease87178
BioCentury BCIQPNPT1
ClinGenPNPT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD87178
Chemical/Pharm GKB GenePA134915354
Clinical trialPNPT1
Miscellaneous
canSAR (ICR)PNPT1 (select the gene name)
Probes
Litterature
PubMed55 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePNPT1
EVEXPNPT1
GoPubMedPNPT1
iHOPPNPT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Jun 22 16:43:47 CEST 2018

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