Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

TERF1 (telomeric repeat binding factor 1)

Identity

Alias (NCBI)PIN2
TRBF1
TRF
TRF1
hTRF1-AS
t-TRF1
HGNC (Hugo) TERF1
HGNC Alias symbPIN2
TRF1
TRF
HGNC Previous nameTRBF1
HGNC Previous nametelomeric repeat binding factor (NIMA-interacting) 1
LocusID (NCBI) 7013
Atlas_Id 42521
Location 8q21.11  [Link to chromosome band 8q21]
Location_base_pair Starts at 73008864 and ends at 73048123 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)
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    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]  ENSG00000147601 [Sequence]  chr8:73008864-73048123 [Contig_View]  TERF1 [Vega]
ICGC DataPortalENSG00000147601
TCGA cBioPortalTERF1
AceView (NCBI)TERF1
Genatlas (Paris)TERF1
SOURCE (Princeton)TERF1
Genetics Home Reference (NIH)TERF1
Genomic and cartography
GoldenPath hg38 (UCSC)TERF1  -     chr8:73008864-73048123 +  8q21.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TERF1  -     8q21.11   [Description]    (hg19-Feb_2009)
GoldenPathTERF1 - 8q21.11 [CytoView hg19]  TERF1 - 8q21.11 [CytoView hg38]
ImmunoBaseENSG00000147601
Genome Data Viewer NCBITERF1 [Mapview hg19]  
OMIM600951   
Gene and transcription
Genbank (Entrez)AF003001 AI218408 AK123410 AK292529 AY576778
RefSeq transcript (Entrez)NM_003218 NM_017489
Consensus coding sequences : CCDS (NCBI)TERF1
Gene ExpressionTERF1 [ NCBI-GEO ]   TERF1 [ EBI - ARRAY_EXPRESS ]   TERF1 [ SEEK ]   TERF1 [ MEM ]
Gene Expression Viewer (FireBrowse)TERF1 [ Firebrowse - Broad ]
GenevisibleExpression of TERF1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7013
GTEX Portal (Tissue expression)TERF1
Human Protein AtlasENSG00000147601-TERF1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusP54274
Domaine pattern : Prosite (Expaxy)HTH_MYB (PS51294)   
Domains : Interpro (EBI)Homeobox-like_sf    Myb_dom    SANT/Myb    Telomere_rpt-bd_fac_dimer_dom    Telomere_rpt-bd_fac_dimer_sf    TERF1/2   
Domain families : Pfam (Sanger)Myb_DNA-binding (PF00249)    TRF (PF08558)   
Domain families : Pfam (NCBI)pfam00249    pfam08558   
Domain families : Smart (EMBL)SANT (SM00717)  
Conserved Domain (NCBI)TERF1
PDB (RSDB)1BA5    1H6O    1ITY    1IV6    1W0T    3BQO    3L82    5HKP    5WIR    5XUP   
PDB Europe1BA5    1H6O    1ITY    1IV6    1W0T    3BQO    3L82    5HKP    5WIR    5XUP   
PDB (PDBSum)1BA5    1H6O    1ITY    1IV6    1W0T    3BQO    3L82    5HKP    5WIR    5XUP   
PDB (IMB)1BA5    1H6O    1ITY    1IV6    1W0T    3BQO    3L82    5HKP    5WIR    5XUP   
Structural Biology KnowledgeBase1BA5    1H6O    1ITY    1IV6    1W0T    3BQO    3L82    5HKP    5WIR    5XUP   
SCOP (Structural Classification of Proteins)1BA5    1H6O    1ITY    1IV6    1W0T    3BQO    3L82    5HKP    5WIR    5XUP   
CATH (Classification of proteins structures)1BA5    1H6O    1ITY    1IV6    1W0T    3BQO    3L82    5HKP    5WIR    5XUP   
SuperfamilyP54274
AlphaFold pdb e-kbP54274   
Human Protein Atlas [tissue]ENSG00000147601-TERF1 [tissue]
HPRD02975
Protein Interaction databases
DIP (DOE-UCLA)P54274
IntAct (EBI)P54274
BioGRIDTERF1
STRING (EMBL)TERF1
ZODIACTERF1
Ontologies - Pathways
QuickGOP54274
Ontology : AmiGOtelomere maintenance  telomere maintenance  chromosome, telomeric region  chromosome, telomeric region  nuclear telomere cap complex  nuclear telomere cap complex  nuclear telomere cap complex  fibrillar center  DNA binding  double-stranded telomeric DNA binding  double-stranded telomeric DNA binding  telomerase activity  telomerase activity  protein binding  nucleus  nucleus  nucleoplasm  nucleolus  cytoplasm  spindle  telomere maintenance via telomerase  telomere maintenance via telomerase  telomere maintenance via telomerase  microtubule binding  negative regulation of DNA replication  negative regulation of DNA replication  DNA binding, bending  DNA binding, bending  telomere capping  nuclear body  telomere maintenance via semi-conservative replication  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  identical protein binding  protein homodimerization activity  depurination  meiotic telomere clustering  negative regulation of DNA recombination at telomere  cell division  negative regulation of telomerase activity  telomeric D-loop disassembly  shelterin complex  shelterin complex  ankyrin repeat binding  ankyrin repeat binding  t-circle formation  G-rich strand telomeric DNA binding  G-rich strand telomeric DNA binding  positive regulation of histone exchange  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 protein-containing complex localization to telomere  negative regulation of exonuclease activity  negative regulation of exonuclease activity  negative regulation of telomeric D-loop disassembly  negative regulation of telomeric D-loop disassembly  
Ontology : EGO-EBItelomere maintenance  telomere maintenance  chromosome, telomeric region  chromosome, telomeric region  nuclear telomere cap complex  nuclear telomere cap complex  nuclear telomere cap complex  fibrillar center  DNA binding  double-stranded telomeric DNA binding  double-stranded telomeric DNA binding  telomerase activity  telomerase activity  protein binding  nucleus  nucleus  nucleoplasm  nucleolus  cytoplasm  spindle  telomere maintenance via telomerase  telomere maintenance via telomerase  telomere maintenance via telomerase  microtubule binding  negative regulation of DNA replication  negative regulation of DNA replication  DNA binding, bending  DNA binding, bending  telomere capping  nuclear body  telomere maintenance via semi-conservative replication  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  identical protein binding  protein homodimerization activity  depurination  meiotic telomere clustering  negative regulation of DNA recombination at telomere  cell division  negative regulation of telomerase activity  telomeric D-loop disassembly  shelterin complex  shelterin complex  ankyrin repeat binding  ankyrin repeat binding  t-circle formation  G-rich strand telomeric DNA binding  G-rich strand telomeric DNA binding  positive regulation of histone exchange  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 protein-containing complex localization to telomere  negative regulation of exonuclease activity  negative regulation of exonuclease activity  negative regulation of telomeric D-loop disassembly  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
Homologs : HomoloGeneTERF1
Homology/Alignments : Family Browser (UCSC)TERF1
Gene fusions - Rearrangements
Fusion : QuiverTERF1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTERF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TERF1
dbVarTERF1
ClinVarTERF1
MonarchTERF1
1000_GenomesTERF1 
Exome Variant ServerTERF1
GNOMAD BrowserENSG00000147601
Varsome BrowserTERF1
ACMGTERF1 variants
VarityP54274
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]  
Somatic Mutations in Cancer : COSMIC3DTERF1
Mutations and Diseases : HGMDTERF1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTERF1
DgiDB (Drug Gene Interaction Database)TERF1
DoCM (Curated mutations)TERF1
CIViC (Clinical Interpretations of Variants in Cancer)TERF1
Cancer3DTERF1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600951   
Orphanet
DisGeNETTERF1
MedgenTERF1
Genetic Testing Registry TERF1
NextProtP54274 [Medical]
GENETestsTERF1
Target ValidationTERF1
Huge Navigator TERF1 [HugePedia]
ClinGenTERF1
Clinical trials, drugs, therapy
MyCancerGenomeTERF1
Protein Interactions : CTDTERF1
Pharm GKB GenePA36445
PharosP54274
Clinical trialTERF1
Miscellaneous
canSAR (ICR)TERF1
HarmonizomeTERF1
DataMed IndexTERF1
Probes
Litterature
PubMed206 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTERF1
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 : Mon Oct 4 15:34:47 CEST 2021

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.