TERF1 (telomeric repeat binding factor 1)

2003-02-01  

Identity

HGNC
TERF1
LOCATION
8q21.11
LOCUSID
7013
ALIAS
PIN2,TRBF1,TRF,TRF1,hTRF1-AS,t-TRF1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 7013
MIM: 600951
HGNC: 11728
Ensembl: ENSG00000147601

Variants:

dbSNP: 7013
ClinVar: 7013
TCGA: ENSG00000147601
COSMIC: TERF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000147601ENST00000276602P54274
ENSG00000147601ENST00000276603P54274
ENSG00000147601ENST00000517390E7EWM7
ENSG00000147601ENST00000518874E5RFJ5

Expression (GTEx)

0
5
10
15
20
25
30
35
40
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Shelterin complexKEGGhsa_M00424
Shelterin complexKEGGM00424
Cell CycleREACTOMER-HSA-1640170
Chromosome MaintenanceREACTOMER-HSA-73886
Telomere MaintenanceREACTOMER-HSA-157579
Packaging Of Telomere EndsREACTOMER-HSA-171306
MeiosisREACTOMER-HSA-1500620
Meiotic synapsisREACTOMER-HSA-1221632
Cellular responses to stressREACTOMER-HSA-2262752
Cellular SenescenceREACTOMER-HSA-2559583
DNA Damage/Telomere Stress Induced SenescenceREACTOMER-HSA-2559586

References

Pubmed IDYearTitleCitations
369951712023In silico exploration and molecular dynamics of deleterious SNPs on the human TERF1 protein triggering male infertility.0
376248852023Structural basis of telomeric nucleosome recognition by shelterin factor TRF1.3
369951712023In silico exploration and molecular dynamics of deleterious SNPs on the human TERF1 protein triggering male infertility.0
376248852023Structural basis of telomeric nucleosome recognition by shelterin factor TRF1.3
350776812022Compartmentalization of telomeres through DNA-scaffolded phase separation.29
361423742022In Vitro Characterization of the Physical Interactions between the Long Noncoding RNA TERRA and the Telomeric Proteins TRF1 and TRF2.1
350776812022Compartmentalization of telomeres through DNA-scaffolded phase separation.29
361423742022In Vitro Characterization of the Physical Interactions between the Long Noncoding RNA TERRA and the Telomeric Proteins TRF1 and TRF2.1
333475802021Dynamics of TRF1 organizing a single human telomere.3
339418492021Low frequency variants associated with leukocyte telomere length in the Singapore Chinese population.5
344036962021Structure, dynamics, and regulation of TRF1-TIN2-mediated trans- and cis-interactions on telomeric DNA.5
344860822021Prognostic value of TERF1 expression in prostate cancer.1
333475802021Dynamics of TRF1 organizing a single human telomere.3
339418492021Low frequency variants associated with leukocyte telomere length in the Singapore Chinese population.5
344036962021Structure, dynamics, and regulation of TRF1-TIN2-mediated trans- and cis-interactions on telomeric DNA.5

Citation

Dessen P

TERF1 (telomeric repeat binding factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42521/img/favicon/img/logo-atlas-4.svg