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TERF1 (telomeric repeat binding factor 1)

Identity

Alias_namesTRBF1
telomeric repeat binding factor (NIMA-interacting) 1
Alias_symbol (synonym)PIN2
TRF1
TRF
Other aliashTRF1-AS
t-TRF1
HGNC (Hugo) TERF1
LocusID (NCBI) 7013
Atlas_Id 42521
Location 8q21.11  [Link to chromosome band 8q21]
Location_base_pair Starts at 73008862 and ends at 73047752 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
TERF1 (8q21.11) / ESYT2 (7q36.3)TERF1 (8q21.11) / MLEC (12q24.31)

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)TERF1   11728
Cards
Entrez_Gene (NCBI)TERF1  7013  telomeric repeat binding factor 1
AliasesPIN2; TRBF1; TRF; TRF1; 
hTRF1-AS; t-TRF1
GeneCards (Weizmann)TERF1
Ensembl hg19 (Hinxton)ENSG00000147601 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000147601 [Gene_View]  chr8:73008862-73047752 [Contig_View]  TERF1 [Vega]
ICGC DataPortalENSG00000147601
TCGA cBioPortalTERF1
AceView (NCBI)TERF1
Genatlas (Paris)TERF1
WikiGenes7013
SOURCE (Princeton)TERF1
Genetics Home Reference (NIH)TERF1
Genomic and cartography
GoldenPath hg38 (UCSC)TERF1  -     chr8:73008862-73047752 +  8q21.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TERF1  -     8q21.11   [Description]    (hg19-Feb_2009)
EnsemblTERF1 - 8q21.11 [CytoView hg19]  TERF1 - 8q21.11 [CytoView hg38]
Mapping of homologs : NCBITERF1 [Mapview hg19]  TERF1 [Mapview hg38]
OMIM600951   
Gene and transcription
Genbank (Entrez)AF003001 AI218408 AK123410 AK292529 AY576778
RefSeq transcript (Entrez)NM_003218 NM_017489
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TERF1
Cluster EST : UnigeneHs.442707 [ NCBI ]
CGAP (NCI)Hs.442707
Alternative Splicing GalleryENSG00000147601
Gene ExpressionTERF1 [ NCBI-GEO ]   TERF1 [ EBI - ARRAY_EXPRESS ]   TERF1 [ SEEK ]   TERF1 [ MEM ]
Gene Expression Viewer (FireBrowse)TERF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7013
GTEX Portal (Tissue expression)TERF1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP54274   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP54274  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP54274
Splice isoforms : SwissVarP54274
PhosPhoSitePlusP54274
Domaine pattern : Prosite (Expaxy)HTH_MYB (PS51294)   
Domains : Interpro (EBI)Homeobox-like    Myb_dom    SANT/Myb    Telomere_rpt-bd_fac_dimer_dom    TERF1   
Domain families : Pfam (Sanger)Myb_DNA-binding (PF00249)    TRF (PF08558)   
Domain families : Pfam (NCBI)pfam00249    pfam08558   
Domain families : Smart (EMBL)SANT (SM00717)  
Domain structure : Prodom (Prabi Lyon)Telomere_repeat-bd_fac_dimer (PD014243)   
Conserved Domain (NCBI)TERF1
DMDM Disease mutations7013
Blocks (Seattle)TERF1
PDB (SRS)1BA5    1H6O    1ITY    1IV6    1W0T    3BQO    3L82    5HKP   
PDB (PDBSum)1BA5    1H6O    1ITY    1IV6    1W0T    3BQO    3L82    5HKP   
PDB (IMB)1BA5    1H6O    1ITY    1IV6    1W0T    3BQO    3L82    5HKP   
PDB (RSDB)1BA5    1H6O    1ITY    1IV6    1W0T    3BQO    3L82    5HKP   
Structural Biology KnowledgeBase1BA5    1H6O    1ITY    1IV6    1W0T    3BQO    3L82    5HKP   
SCOP (Structural Classification of Proteins)1BA5    1H6O    1ITY    1IV6    1W0T    3BQO    3L82    5HKP   
CATH (Classification of proteins structures)1BA5    1H6O    1ITY    1IV6    1W0T    3BQO    3L82    5HKP   
SuperfamilyP54274
Human Protein AtlasENSG00000147601
Peptide AtlasP54274
HPRD02975
IPIIPI00005539   IPI00220583   IPI00973834   IPI00975736   
Protein Interaction databases
DIP (DOE-UCLA)P54274
IntAct (EBI)P54274
FunCoupENSG00000147601
BioGRIDTERF1
STRING (EMBL)TERF1
ZODIACTERF1
Ontologies - Pathways
QuickGOP54274
Ontology : AmiGOtelomere maintenance  nuclear telomere cap complex  nuclear telomere cap complex  nuclear chromosome, telomeric region  fibrillar center  DNA binding  double-stranded telomeric DNA binding  telomerase activity  protein binding  nucleus  nucleus  nucleoplasm  nucleolus  cytoplasm  spindle  telomere maintenance via telomerase  telomere maintenance via telomerase  negative regulation of DNA replication  DNA binding, bending  telomere capping  nuclear body  telomeric loop formation  negative regulation of telomere maintenance via telomerase  negative regulation of telomere maintenance via telomerase  negative regulation of telomere maintenance via semi-conservative replication  telomeric DNA binding  response to drug  protein homodimerization activity  protein homodimerization activity  ubiquitin binding  meiotic telomere clustering  cell division  negative regulation of telomerase activity  telomeric D-loop disassembly  shelterin complex  shelterin complex  ankyrin repeat binding  t-circle formation  G-rich strand telomeric DNA binding  negative regulation of telomere maintenance via telomere lengthening  positive regulation of shelterin complex assembly  negative regulation of establishment of protein localization to telomere  negative regulation of establishment of RNA localization to telomere  negative regulation of establishment of macromolecular complex localization to telomere  negative regulation of exonuclease activity  negative regulation of telomeric D-loop disassembly  
Ontology : EGO-EBItelomere maintenance  nuclear telomere cap complex  nuclear telomere cap complex  nuclear chromosome, telomeric region  fibrillar center  DNA binding  double-stranded telomeric DNA binding  telomerase activity  protein binding  nucleus  nucleus  nucleoplasm  nucleolus  cytoplasm  spindle  telomere maintenance via telomerase  telomere maintenance via telomerase  negative regulation of DNA replication  DNA binding, bending  telomere capping  nuclear body  telomeric loop formation  negative regulation of telomere maintenance via telomerase  negative regulation of telomere maintenance via telomerase  negative regulation of telomere maintenance via semi-conservative replication  telomeric DNA binding  response to drug  protein homodimerization activity  protein homodimerization activity  ubiquitin binding  meiotic telomere clustering  cell division  negative regulation of telomerase activity  telomeric D-loop disassembly  shelterin complex  shelterin complex  ankyrin repeat binding  t-circle formation  G-rich strand telomeric DNA binding  negative regulation of telomere maintenance via telomere lengthening  positive regulation of shelterin complex assembly  negative regulation of establishment of protein localization to telomere  negative regulation of establishment of RNA localization to telomere  negative regulation of establishment of macromolecular complex localization to telomere  negative regulation of exonuclease activity  negative regulation of telomeric D-loop disassembly  
Pathways : BIOCARTATelomeres, Telomerase, Cellular Aging, and Immortality [Genes]   
NDEx NetworkTERF1
Atlas of Cancer Signalling NetworkTERF1
Wikipedia pathwaysTERF1
Orthology - Evolution
OrthoDB7013
GeneTree (enSembl)ENSG00000147601
Phylogenetic Trees/Animal Genes : TreeFamTERF1
HOVERGENP54274
HOGENOMP54274
Homologs : HomoloGeneTERF1
Homology/Alignments : Family Browser (UCSC)TERF1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTERF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TERF1
dbVarTERF1
ClinVarTERF1
1000_GenomesTERF1 
Exome Variant ServerTERF1
ExAC (Exome Aggregation Consortium)TERF1 (select the gene name)
Genetic variants : HAPMAP7013
Genomic Variants (DGV)TERF1 [DGVbeta]
DECIPHERTERF1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTERF1 
Mutations
ICGC Data PortalTERF1 
TCGA Data PortalTERF1 
Broad Tumor PortalTERF1
OASIS PortalTERF1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTERF1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTERF1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TERF1
DgiDB (Drug Gene Interaction Database)TERF1
DoCM (Curated mutations)TERF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TERF1 (select a term)
intoGenTERF1
Cancer3DTERF1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600951   
Orphanet
MedgenTERF1
Genetic Testing Registry TERF1
NextProtP54274 [Medical]
TSGene7013
GENETestsTERF1
Target ValidationTERF1
Huge Navigator TERF1 [HugePedia]
snp3D : Map Gene to Disease7013
BioCentury BCIQTERF1
ClinGenTERF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7013
Chemical/Pharm GKB GenePA36445
Clinical trialTERF1
Miscellaneous
canSAR (ICR)TERF1 (select the gene name)
Probes
Litterature
PubMed170 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTERF1
EVEXTERF1
GoPubMedTERF1
iHOPTERF1
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 12:59:04 CEST 2017

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