TERF1 (telomeric repeat binding factor 1)

2003-02-01 Affiliation

Identity

HGNC

TERF1

LOCATION

8q21.11

LOCUSID

7013

ALIAS

PIN2,TRBF1,TRF,TRF1,hTRF1-AS,t-TRF1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000147601	ENST00000276602	P54274
ENSG00000147601	ENST00000276603	P54274
ENSG00000147601	ENST00000517390	E7EWM7
ENSG00000147601	ENST00000518874	E5RFJ5

Expression (GTEx)

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

Pathway	Source	External ID
Shelterin complex	KEGG	hsa_M00424
Shelterin complex	KEGG	M00424
Cell Cycle	REACTOME	R-HSA-1640170
Chromosome Maintenance	REACTOME	R-HSA-73886
Telomere Maintenance	REACTOME	R-HSA-157579
Packaging Of Telomere Ends	REACTOME	R-HSA-171306
Meiosis	REACTOME	R-HSA-1500620
Meiotic synapsis	REACTOME	R-HSA-1221632
Cellular responses to stress	REACTOME	R-HSA-2262752
Cellular Senescence	REACTOME	R-HSA-2559583
DNA Damage/Telomere Stress Induced Senescence	REACTOME	R-HSA-2559586

References

Pubmed ID	Year	Title	Citations
19596237	2009	Mammalian telomeres resemble fragile sites and require TRF1 for efficient replication.	421
12768206	2003	POT1 as a terminal transducer of TRF1 telomere length control.	246
15316005	2004	TIN2 binds TRF1 and TRF2 simultaneously and stabilizes the TRF2 complex on telomeres.	121
18202258	2008	A shared docking motif in TRF1 and TRF2 used for differential recruitment of telomeric proteins.	116
16880378	2006	A critical role for TPP1 and TIN2 interaction in high-order telomeric complex assembly.	94
15608617	2005	How the human telomeric proteins TRF1 and TRF2 recognize telomeric DNA: a view from high-resolution crystal structures.	83
11971978	2002	Targeting assay to study the cis functions of human telomeric proteins: evidence for inhibition of telomerase by TRF1 and for activation of telomere degradation by TRF2.	77
15133513	2004	TIN2 is a tankyrase 1 PARP modulator in the TRF1 telomere length control complex.	68
15100233	2004	The human Rap1 protein complex and modulation of telomere length.	62
21209389	2010	How shelterin solves the telomere end-protection problem.	62

Citation

Dessen P

TERF1 (telomeric repeat binding factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42521/terf1