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PINX1 (PIN2/TERF1 interacting, telomerase inhibitor 1)

Identity

Alias_symbol (synonym)PinX1
LPTL
LPTS
FLJ20565
MGC8850
Other alias
HGNC (Hugo) PINX1
LocusID (NCBI) 54984
Atlas_Id 41721
Location 8p23.1  [Link to chromosome band 8p23]
Location_base_pair Starts at 10622471 and ends at 10697409 bp from pter ( according to hg19-Feb_2009)

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)PINX1   30046
Cards
Entrez_Gene (NCBI)PINX1  54984  PIN2/TERF1 interacting, telomerase inhibitor 1
AliasesLPTL; LPTS
GeneCards (Weizmann)PINX1
Ensembl hg19 (Hinxton)ENSG00000254093 [Gene_View]  chr8:10622471-10697409 [Contig_View]  PINX1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000254093 [Gene_View]  chr8:10622471-10697409 [Contig_View]  PINX1 [Vega]
ICGC DataPortalENSG00000254093
TCGA cBioPortalPINX1
AceView (NCBI)PINX1
Genatlas (Paris)PINX1
WikiGenes54984
SOURCE (Princeton)PINX1
Genetics Home Reference (NIH)PINX1
Genomic and cartography
GoldenPath hg19 (UCSC)PINX1  -     chr8:10622471-10697409 -  8p23.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PINX1  -     8p23.1   [Description]    (hg38-Dec_2013)
EnsemblPINX1 - 8p23.1 [CytoView hg19]  PINX1 - 8p23.1 [CytoView hg38]
Mapping of homologs : NCBIPINX1 [Mapview hg19]  PINX1 [Mapview hg38]
OMIM606505   
Gene and transcription
Genbank (Entrez)AF205718 AF418553 AJ344104 AK313715 AY238941
RefSeq transcript (Entrez)NM_001284356 NM_017884
RefSeq genomic (Entrez)NC_000008 NC_018919 NT_077531 NW_004929336
Consensus coding sequences : CCDS (NCBI)PINX1
Cluster EST : UnigeneHs.490991 [ NCBI ]
CGAP (NCI)Hs.490991
Alternative Splicing GalleryENSG00000254093
Gene ExpressionPINX1 [ NCBI-GEO ]   PINX1 [ EBI - ARRAY_EXPRESS ]   PINX1 [ SEEK ]   PINX1 [ MEM ]
Gene Expression Viewer (FireBrowse)PINX1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54984
GTEX Portal (Tissue expression)PINX1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96BK5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96BK5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96BK5
Splice isoforms : SwissVarQ96BK5
PhosPhoSitePlusQ96BK5
Domaine pattern : Prosite (Expaxy)G_PATCH (PS50174)   
Domains : Interpro (EBI)G_patch_dom   
Domain families : Pfam (Sanger)G-patch (PF01585)   
Domain families : Pfam (NCBI)pfam01585   
Domain families : Smart (EMBL)G_patch (SM00443)  
Conserved Domain (NCBI)PINX1
DMDM Disease mutations54984
Blocks (Seattle)PINX1
SuperfamilyQ96BK5
Human Protein AtlasENSG00000254093
Peptide AtlasQ96BK5
HPRD05934
IPIIPI00297357   IPI00385561   IPI00973972   IPI01009127   IPI00984207   IPI00974210   
Protein Interaction databases
DIP (DOE-UCLA)Q96BK5
IntAct (EBI)Q96BK5
FunCoupENSG00000254093
BioGRIDPINX1
STRING (EMBL)PINX1
ZODIACPINX1
Ontologies - Pathways
QuickGOQ96BK5
Ontology : AmiGOnuclear chromosome  kinetochore  condensed chromosome kinetochore  nuclear chromosome, telomeric region  protein binding  nucleus  nucleolus  nucleolus  cytoplasm  mitochondrion  spindle  telomere maintenance via telomerase  mitotic metaphase plate congression  negative regulation of cell proliferation  telomerase inhibitor activity  telomerase inhibitor activity  telomerase inhibitor activity  telomerase inhibitor activity  negative regulation of protein ubiquitination  regulation of protein stability  negative regulation of telomere maintenance via telomerase  negative regulation of telomere maintenance via telomerase  intracellular membrane-bounded organelle  regulation of telomerase activity  negative regulation of telomerase activity  negative regulation of telomerase activity  negative regulation of telomerase activity  telomerase RNA binding  protein localization to chromosome, telomeric region  protein localization to nucleolus  negative regulation of telomere maintenance via telomere lengthening  positive regulation of telomeric DNA binding  positive regulation of protein localization to nucleolus  
Ontology : EGO-EBInuclear chromosome  kinetochore  condensed chromosome kinetochore  nuclear chromosome, telomeric region  protein binding  nucleus  nucleolus  nucleolus  cytoplasm  mitochondrion  spindle  telomere maintenance via telomerase  mitotic metaphase plate congression  negative regulation of cell proliferation  telomerase inhibitor activity  telomerase inhibitor activity  telomerase inhibitor activity  telomerase inhibitor activity  negative regulation of protein ubiquitination  regulation of protein stability  negative regulation of telomere maintenance via telomerase  negative regulation of telomere maintenance via telomerase  intracellular membrane-bounded organelle  regulation of telomerase activity  negative regulation of telomerase activity  negative regulation of telomerase activity  negative regulation of telomerase activity  telomerase RNA binding  protein localization to chromosome, telomeric region  protein localization to nucleolus  negative regulation of telomere maintenance via telomere lengthening  positive regulation of telomeric DNA binding  positive regulation of protein localization to nucleolus  
NDEx NetworkPINX1
Atlas of Cancer Signalling NetworkPINX1
Wikipedia pathwaysPINX1
Orthology - Evolution
OrthoDB54984
GeneTree (enSembl)ENSG00000254093
Phylogenetic Trees/Animal Genes : TreeFamPINX1
HOVERGENQ96BK5
HOGENOMQ96BK5
Homologs : HomoloGenePINX1
Homology/Alignments : Family Browser (UCSC)PINX1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPINX1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PINX1
dbVarPINX1
ClinVarPINX1
1000_GenomesPINX1 
Exome Variant ServerPINX1
ExAC (Exome Aggregation Consortium)PINX1 (select the gene name)
Genetic variants : HAPMAP54984
Genomic Variants (DGV)PINX1 [DGVbeta]
DECIPHER (Syndromes)8:10622471-10697409  ENSG00000254093
CONAN: Copy Number AnalysisPINX1 
Mutations
ICGC Data PortalPINX1 
TCGA Data PortalPINX1 
Broad Tumor PortalPINX1
OASIS PortalPINX1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPINX1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPINX1
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
BioMutasearch PINX1
DgiDB (Drug Gene Interaction Database)PINX1
DoCM (Curated mutations)PINX1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PINX1 (select a term)
intoGenPINX1
Cancer3DPINX1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606505   
Orphanet
MedgenPINX1
Genetic Testing Registry PINX1
NextProtQ96BK5 [Medical]
TSGene54984
GENETestsPINX1
Huge Navigator PINX1 [HugePedia]
snp3D : Map Gene to Disease54984
BioCentury BCIQPINX1
ClinGenPINX1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54984
Chemical/Pharm GKB GenePA165585852
Clinical trialPINX1
Miscellaneous
canSAR (ICR)PINX1 (select the gene name)
Probes
Litterature
PubMed59 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePINX1
EVEXPINX1
GoPubMedPINX1
iHOPPINX1
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 : Thu Mar 30 15:14:25 CEST 2017

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