1. Gene
  2. TERF1 - telomeric repeat binding factor 1 Gene

TERF1 - telomeric repeat binding factor 1 Gene

Homo sapiens

Also known as TRF; PIN2; TRF1; TRBF1; t-TRF1; hTRF1-AS

Gene ID: 7013 | Gene type: protein coding

About TERF1

Cytogenetic location: 8q21.11 Genomic coordinates (GRCh38): 8:73,008,864-73,048,123 (from NCBI)

This gene has 16 transcripts (splice variants), 197 orthologues and 1 paralogue. Ubiquitous expression in brain (RPKM 11.2), ovary (RPKM 9.8) and 25 other tissues.

Summary

This gene encodes a telomere specific protein which is a component of the telomere nucleoprotein complex. This protein is present at telomeres throughout the cell cycle and functions as an inhibitor of Telomerase, acting in cis to limit the elongation of individual chromosome ends. The protein structure contains a C-terminal Myb motif, a dimerization domain near its N-terminus and an acidic N-terminus. Multiple transcripts of this gene are alternatively spliced products. [provided by RefSeq, Aug 2022]

TERF1 Products(14)

mRNA Protein Name
NM_001410928.1 NP_001397857.1 telomeric repeat-binding factor 1 isoform 3
NM_001413364.1 NP_001400293.1 telomeric repeat-binding factor 1 isoform 4
NM_001413365.1 NP_001400294.1 telomeric repeat-binding factor 1 isoform 5
NM_001413366.1 NP_001400295.1 telomeric repeat-binding factor 1 isoform 6
NM_001413367.1 NP_001400296.1 telomeric repeat-binding factor 1 isoform 7
NM_001413368.1 NP_001400297.1 telomeric repeat-binding factor 1 isoform 8
NM_001413369.1 NP_001400298.1 telomeric repeat-binding factor 1 isoform 9
NM_001413370.1 NP_001400299.1 telomeric repeat-binding factor 1 isoform 10
NM_001413371.1 NP_001400300.1 telomeric repeat-binding factor 1 isoform 11
NM_001413372.1 NP_001400301.1 telomeric repeat-binding factor 1 isoform 12
NM_001413373.1 NP_001400302.1 telomeric repeat-binding factor 1 isoform 13
NM_001413374.1 NP_001400303.1 telomeric repeat-binding factor 1 isoform 14
NM_003218.4 NP_003209.2 telomeric repeat-binding factor 1 isoform 2
NM_017489.3 NP_059523.2 telomeric repeat-binding factor 1 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables DNA binding, bending IDA
IDA: Inferred from direct assay
9130722 GOA
enables G-rich strand telomeric DNA binding IDA
IDA: Inferred from direct assay
17694070 GOA
enables ankyrin repeat binding IPI
IPI: Inferred from physical interaction
11854288 GOA
enables double-stranded telomeric DNA binding IDA
IDA: Inferred from direct assay
1406665 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
9391075 GOA
enables microtubule binding IDA
IDA: Inferred from direct assay
11943150 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
9391075 GOA
enables protein homodimerization activity IPI
IPI: Inferred from physical interaction
9130722 GOA
contributes to telomerase activity IDA
IDA: Inferred from direct assay
23685356 GOA
enables telomeric DNA binding IDA
IDA: Inferred from direct assay
9034193 GOA
Biological Process GO Annotation Evidence Reference Source
involved in negative regulation of DNA replication IDA
IDA: Inferred from direct assay
11327863 GOA
involved in negative regulation of establishment of RNA localization to telomere IMP
IMP: Inferred from mutant phenotype
26586433 GOA
involved in negative regulation of establishment of protein localization to telomere IMP
IMP: Inferred from mutant phenotype
25589350 GOA
involved in negative regulation of exonuclease activity IDA
IDA: Inferred from direct assay
15200954 GOA
involved in negative regulation of telomere maintenance via telomerase IGI
IGI: Inferred from genetic interaction
11971978 GOA
involved in negative regulation of telomeric D-loop disassembly IDA
IDA: Inferred from direct assay
15200954 GOA
involved in positive regulation of shelterin complex assembly IMP
IMP: Inferred from mutant phenotype
24270157 GOA
involved in telomere capping IDA
IDA: Inferred from direct assay
21852327 GOA
involved in telomere maintenance IMP
IMP: Inferred from mutant phenotype
24415760 GOA
involved in telomere maintenance via telomerase IDA
IDA: Inferred from direct assay
23685356 GOA
involved in telomere maintenance via telomerase IMP
IMP: Inferred from mutant phenotype
9034193 GOA
involved in telomeric D-loop disassembly IGI
IGI: Inferred from genetic interaction
22039056 GOA
Cellular Component GO Annotation Evidence Reference Source
located in chromosome, telomeric region IDA
IDA: Inferred from direct assay
9034193 GOA
part of nuclear telomere cap complex IDA
IDA: Inferred from direct assay
16880378 GOA
located in nucleolus IDA
IDA: Inferred from direct assay
11701125 GOA
located in nucleus IDA
IDA: Inferred from direct assay
1406665 GOA
part of shelterin complex IDA
IDA: Inferred from direct assay
15383534 GOA
part of shelterin complex IPI
IPI: Inferred from physical interaction
15383534 GOA
colocalizes with spindle IDA
IDA: Inferred from direct assay
11943150 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TERF1 Protein Structure

TRF

TRF: Telomere repeat binding factor (TRF) (77 - 268)

Myb_DNA-binding

Myb_DNA-binding: Myb-like DNA-binding domain (380 - 427)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 439 a.a.
Protein Preferred Names Protein Names

telomeric repeat-binding factor 1

NIMA-interacting protein 2

TERF1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
TERF1 P54274 MAPRE1 Homo sapiens Q15691
Y2H
11701125
Intra
TERF1 P54274 MAPRE1 Homo sapiens Q15691 11943150
Intra
TERF1 P54274 ACAT2 Homo sapiens Q9BWD1 21044950
Intra
TERF1 P54274 FES Homo sapiens P07332 21044950
Intra
TERF1 P54274 TNKS Homo sapiens O95271
IF
20696165
Intra
TERF1 P54274 TNKS Homo sapiens O95271 33961781
Intra
TERF1 P54274 TNKS Homo sapiens O95271 26496610
Intra
TERF1 P54274 CUSTOS Homo sapiens Q96C57 21044950
Intra
TERF1 P54274 STAG1 Homo sapiens Q8WVM7 17962804
Intra
TERF1 P54274 TERB1 Homo sapiens Q8NA31 29083416
Intra
TERF1 P54274 TERB1 Homo sapiens Q8NA31 29083416
Intra
TERF1 P54274 PRDX6 Homo sapiens P30041 21044950
Cross
TERF1 P54274 P0C6X7-PRO_0000037315 Human SARS coronavirus P0C6X7-PRO_0000037315 22046132
Cross
TERF1 P54274 P0C6X7-PRO_0000037315 Human SARS coronavirus P0C6X7-PRO_0000037315 22046132
Intra
TERF1 P54274 CEP85 Homo sapiens Q6P2H3 21044950
Intra
TERF1 P54274 DDX39A Homo sapiens O00148 21044950
Intra
TERF1 P54274 PRDX1 Homo sapiens Q06830 21044950
Intra
TERF1 P54274 NAP1L1 Homo sapiens P55209 21044950
Intra
TERF1 P54274 DNAJB1 Homo sapiens P25685 21044950
Intra
TERF1 P54274 HGD Homo sapiens Q93099 21044950
Intra
TERF1 P54274 NUB1 Homo sapiens Q9Y5A7 27214791
Intra
TERF1 P54274 NUB1 Homo sapiens Q9Y5A7
Y2H
27214791
Intra
TERF1 P54274 NUB1 Homo sapiens Q9Y5A7 27214791
Intra
TERF1 P54274 NUB1 Homo sapiens Q9Y5A7 27214791
Intra
TERF1 P54274 TNPO2 Homo sapiens O14787 21044950
Intra
TERF1 P54274 TNKS2 Homo sapiens Q9H2K2 33961781
Intra
TERF1 P54274 BLM Homo sapiens P54132 15229185
Intra
TERF1 P54274 SOAT1 Homo sapiens P35610 21044950
Intra
TERF1 P54274 MDH1 Homo sapiens P40925 21044950
Intra
TERF1 P54274 SUPT5H Homo sapiens O00267 21044950
Intra
TERF1 P54274 AMPH Homo sapiens P49418 21044950
Intra
TERF1 P54274 PAK4 Homo sapiens O96013 21044950
Intra
TERF1 P54274 RNF10 Homo sapiens Q8N5U6 21044950
Intra
TERF1 P54274 TINF2 Homo sapiens Q9BSI4 25416956
Intra
TERF1 P54274 TINF2 Homo sapiens Q9BSI4 21044950
Intra
TERF1 P54274 TINF2 Homo sapiens Q9BSI4
Y2H
11701125
Intra
TERF1 P54274 TINF2 Homo sapiens Q9BSI4 16169070
Intra
TERF1 P54274 TINF2 Homo sapiens Q9BSI4 21044950
Intra
TERF1 P54274 TINF2 Homo sapiens Q9BSI4 17589526
Intra
TERF1 P54274 TINF2 Homo sapiens Q9BSI4 16880378
Intra
TERF1 P54274 TINF2 Homo sapiens Q9BSI4 33961781
Intra
TERF1 P54274 DDX19B Homo sapiens Q9UMR2 21044950
Intra
TERF1 P54274 WFS1 Homo sapiens O76024 21044950
Intra
TERF1 P54274 LRSAM1 Homo sapiens Q6UWE0 21044950
Intra
TERF1 P54274 WARS1 Homo sapiens P23381 21044950
Intra
TERF1 P54274 PINX1 Homo sapiens Q96BK5 11701125
Intra
TERF1 P54274 PINX1 Homo sapiens Q96BK5
Y2H
11701125
Intra
TERF1 P54274 PINX1 Homo sapiens Q96BK5
Y2H
27214791
Intra
TERF1 P54274 PINX1 Homo sapiens Q96BK5 21044950
Intra
TERF1 P54274 RECQL4 Homo sapiens O94761 21044950
Intra
TERF1 P54274 PPM1G Homo sapiens O15355 21044950
Intra
TERF1 P54274 ACY1 Homo sapiens Q03154 21044950
Intra
TERF1 P54274 PACSIN2 Homo sapiens Q9UNF0 21044950
Intra
TERF1 P54274 DNPH1 Homo sapiens O43598 21044950
Intra
TERF1 P54274 TRMT1 Homo sapiens Q9NXH9 21044950
Intra
TERF1 P54274 HCLS1 Homo sapiens P14317 21044950
Intra
TERF1 P54274 CRYBB1 Homo sapiens P53674 21044950
Intra
TERF1 P54274 SYK Homo sapiens P43405 21044950
Intra
TERF1 P54274 KLHDC4 Homo sapiens Q8TBB5 21044950
Intra
TERF1 P54274 AMPD2 Homo sapiens Q01433 21044950
Intra
TERF1 P54274 FBXO4 Homo sapiens Q9UKT5-1 16275645
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant TERF1 Proteins

Cat. No. Product Name Accession Purity
HY-P74493 TRF1 Protein, Human (sf9, His) P54274-2/NP_003209 (M1-D419) ≥95%

TERF1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P83494 TERF1 Antibody (YA3239) WB, ICC/IF Human, Mouse

Related Diseases

Diseases Alias
Townes-Brocks Syndrome

Townes Syndrome

Renal-Ear-Anal-Radial Syndrome

Anus, Imperforate, With Hand, Foot And Ear Anomalies

Imperforate Anus-Hand, Foot And Ear Anomalies Syndrome

Rear Syndrome

Sensorineural Deafness With Imperforate Anus And Hypoplastic Thumbs

Tbs

Deafness, Sensorineural, With Imperforate Anus And Hypoplastic Thumbs

Imperforate Anus With Hand, Foot And Ear Anomalies

Anal-Ear-Renal-Radial Malformation Syndrome

Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome

Imperforate Anus-Hand And Foot Anomalies Syndrome

Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome

Sensorineural Hearing Loss With Imperforate Anus And Hypoplastic Thumbs

Cherubism

CRBM

Familial Benign Giant-Cell Tumor Of The Jaw

Familial Fibrous Dysplasia Of Jaw

Familial Multilocular Cystic Disease Of The Jaws

Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant

Dc

Dkc

Zinsser-Engman-Cole Syndrome

Dyskeratosis Congenita, Autosomal Dominant

Autosomal Dominant Dyskeratosis Congenita

Dkca

Dyskeratosis Congenita Scoggins Type

Zinsser-Cole-Engman Syndrome

X-Linked Dyskeratosis Congenita

Hoyeraal-Hreidarsson Syndrome

Dyskeratosis Congenita, Autosomal Dominant 3

DKCA3

Autosomal Dominant Dyskeratosis Congenita 3

Dyskeratosis Congenita, Autosomal Dominant, 3

Dyskeratosis Congenita, Autosomal Dominant, Type 3

Werner Syndrome

Werner'S Syndrome

WRN

Adult Progeria

Ws

Adult Premature Ageing Syndrome

Adult Premature Aging Syndrome

Werners Syndrome

Arthrogryposis, Renal Dysfunction, And Cholestasis 1

Arc Syndrome

ARCS1

Arthrogryposis Renal Dysfunction Cholestasis Syndrome

Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome

Arcs

Arthrogryposis, Renal Dysfunction And Cholestasis Syndrome

Arthrogryposis, Renal Dysfunction, And Cholestasis

Arthrogryposis-Renal Dysfunction-Cholestasis

Arthrogryposis - Renal Dysfunction - Cholestasis

Arthrogryposis Multiplex Congenita, Renal Dysfunction, And Cholestasis

Arthrogryposis, Renal Dysfunction And Cholestasis Syndrome 1

Arthrogryposis Renal Dysfunction And Cholestasis 1

Arthrogryposis With Renal Dysfunction And Cholestasis Syndrome

Arthrogryposis, Renal Dysfunction, Cholestasis, Type 1

Kidney Failure

Renal Insufficiency

Revesz Syndrome

Exudative Retinopathy With Bone Marrow Failure

DKCA5

Dyskeratosis Congenita, Autosomal Dominant 5

Dyskeratosis Congenita With Bilateral Exudative Retinopathy

Retinopathy-Anemia-Central Nervous System Anomalies Syndrome

Revesz-Debuse Syndrome

Dyskeratosis Congenita, Autosomal Dominant, 5

Revesz Debuse Syndrome

Acute Leukemia

Stem Cell Leukaemia

Stem Cell Leukemia

Acute Leukemias

Acute Undifferentiated Leukemia

Undifferentiated Leukemia

Acute Leukaemia Of Unspecified Cell Type Without Mention Of Remission

Blast Cell Leukaemia

Blast Leukaemia

Blastic Leukaemia

Undifferentiated Leukaemia

Ataxia-Telangiectasia

Ataxia Telangiectasia

Louis-Bar Syndrome

AT

At1

Ataxia-Telangiectasia Syndrome

Ataxia - Telangiectasia Variant

Boder-Sedgwick Syndrome

Louis Bar Syndrome

Cerebello-Oculocutaneous Telangiectasia

Immunodeficiency With Ataxia Telangiectasia

A-T

Ataxia Telangiectasia Syndrome

Atm

Telangiectasia, Cerebello-Oculocutaneous

Ataxia-Telangiectasia Variant

Anaplastic Astrocytoma

Grade Iii Astrocytoma

Astrocytoma, Anaplastic

Grade Iii Astrocytic Tumor

Melanoma, Cutaneous Malignant 1

Familial Melanoma

Melanoma, Cutaneous Malignant, Susceptibility To, 1

Melanoma, Malignant

CMM1

Melanoma, Cutaneous Malignant

Cmm

Familial Atypical Mole-Malignant Melanoma Syndrome

Fammm

Melanoma, Familial

Mlm

Dysplastic Nevus Syndrome, Hereditary

Dns

B-K Mole Syndrome

Melanoma, Cutaneous Malignant, 1

Malignant Melanoma, Cutaneous

Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1

Dysplastic Nevus Syndrome

Cutaneous Melanoma

Familial Atypical Mole Melanoma Syndrome

Hereditary Melanoma

Coats Disease

Exudative Retinopathy

Retinal Telangiectasis

Coats' Disease

Leber Miliary Aneurysm

Coats' Syndrome

Congenital Retinal Telangiectasia

Gastric Cancer

Stomach Cancer

Gastric Carcinoma

Stomach Carcinoma

Gastric Cancer, Somatic

Gastric Neoplasm

Carcinoma Of Stomach

Stomach Neoplasms

Malignant Neoplasm Of Stomach

Gastric Cancer Risk After H. Pylori Infection

Cancer Of The Stomach

Adult Stomach Cancer

Adult Stomach Carcinoma

GASC

Gastric Cancer Intestinal

Gastric Cancers

Gastric Carcinomas

Cancer, Gastric

Stomach Neoplasm

Malignant Neoplasm Of Body Of Stomach

Malignant Tumor Of Lesser Curve Of Stomach

Gastrocarcinoma Of Unspecified Site

Leather Bottle Stomach

Carcinoma Of Fundus Of Stomach

Cancer Of Fundus Of Stomach

Primary Malignant Neoplasm Of Body Of Stomach

Cancer Of Body Of Stomach

Primary Malignant Neoplasm Of Pyloric Antrum

Pyloric Antrum Cancer

Malignant Tumour Of Stomach

Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma

Aplastic Anemia

Aplastic Anemia, Susceptibility To

Anemia Aplastic

Idiopathic Aplastic Anemia

Secondary Aplastic Anemia

Idiopathic Bone Marrow Failure

Aplastic Anemia Idiopathic

AA

Anemia, Aplastic

Aplastic Anemia, Idiopathic

Erythroid Aplasia

Aa - [Aplastic Anaemia]

Haematopoietic Aplasia

Aleukia Haemorrhagica

Anaemia Due To Decreased Red Cell Production

Aplasia Bone Marrow

Aplastic Bone Marrow

Hypoplastic Anaemia Nos

Myeloid Bone Marrow Aplasia

Pancytopenia

Panhaematopenia

Hypoproliferative Anaemia

Medullary Hypoplasia

Red Blood Cells Hypoplastic Anaemia

Panmyelophthisis

Panhemocytopenia

Refractive Hypoproliferative Anaemia

Toxic Anaemia

Toxic Aplastic Anaemia

Aplastic Anaemia Due To Toxic Cause

Idiopathic Aplastic Anaemia Nos

Meningioma, Familial

Meningioma

Familial Meningioma

Meningioma, Familial, Susceptibility To

Meningeal Neoplasm

Meningeal Neoplasms

Meningiomas

Meningioma, Nf2-Related, Somatic

Meningioma, Sis-Related

Meningothelial Cell Tumor

Neoplasm Of The Meninges

Primary Meningeal Tumor

Familial Multiple Meningioma

MNGMA

Meningioma, Benign, No Icd-O Subtype

Intracranial Meningioma

Meningothelial Cell Neoplasm

Supratentorial Meningioma

Primary Neoplasm Of Spinal Meninges

Benign Intracranial Meningioma

Benign Meningioma

Meningeal Tumours

Meningeal Sarcoma Of Unspecified Site

Meningothelial Sarcoma Of Unspecified Site

Interstitial Lung Disease 2

Idiopathic Pulmonary Fibrosis

Ipf

Fibrocystic Pulmonary Dysplasia

Pulmonary Fibrosis, Idiopathic

Pulmonary Fibrosis, Idiopathic, Susceptibility To

Cryptogenic Fibrosing Alveolitis

ILD2

Idiopathic Pulmonary Fibrosis, Familial

Fibrosing Alveolitis, Cryptogenic

Uip

Fibrosing Alveolitis

Interstitial Pneumonitis, Usual

Familial Idiopathic Pulmonary Fibrosis

Idiopathic Fibrosing Alveolitis, Chronic Form

Usual Interstitial Pneumonia

Fibrosing Alveolitis Cryptogenic

Hamman-Rich Disease

Idiopathic Pulmonary Fibrosis Familial

Interstitial Pneumonitis Usual

Fibrosis Idiopathic Pulmonary

Fibrosis, Pulmonary, Idiopathic

Hamman-Rich Syndrome

Chronic Idiopathic Pulmonary Fibrosis

Acute Interstitial Pneumonia

Interstitial Pulmonary Fibrosis

Ipf - [Idiopathic Pulmonary Fibrosis]

Idiopathic Lung Fibrosis

Fibrosing Lung Disease

Pulmonary Fibrosis Nos

Fibrosing Pneumonitis

Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus TERF1 MGD MGI:109634
Canis familiaris TERF1 VGNC VGNC:47254
Bos taurus TERF1 VGNC VGNC:35749
Rattus norvegicus TERF1 RGD RGD:1311574
Felis catus TERF1 VGNC VGNC:66083
Macaca mulatta TERF1 VGNC VGNC:78311
Others TERF1 NCBI