Details for: TERF1

Gene ID: 7013

Symbol: TERF1

Ensembl ID: ENSG00000147601

Description: telomeric repeat binding factor 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 2.05
    Marker Score: 4816
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.74
    Marker Score: 2506
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 1.71
    Marker Score: 22515
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.63
    Marker Score: 100320
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.62
    Marker Score: 1962
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.61
    Marker Score: 61230
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.6
    Marker Score: 1691
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 1.59
    Marker Score: 4336
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.59
    Marker Score: 3315
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.56
    Marker Score: 13415
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.54
    Marker Score: 14510
  • Cell Name: small pre-B-II cell (CL0000954)
    Fold Change: 1.54
    Marker Score: 1852
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 1.51
    Marker Score: 1424
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 1.49
    Marker Score: 477
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.47
    Marker Score: 13962
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.47
    Marker Score: 11263
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.45
    Marker Score: 971
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.44
    Marker Score: 28734
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.43
    Marker Score: 21332
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.42
    Marker Score: 5497
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 1.41
    Marker Score: 2398
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.39
    Marker Score: 2830
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.39
    Marker Score: 51100
  • Cell Name: smooth muscle cell of large intestine (CL1000279)
    Fold Change: 1.38
    Marker Score: 524
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 1.32
    Marker Score: 2030
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.31
    Marker Score: 2025
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.31
    Marker Score: 13255
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.29
    Marker Score: 4782
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.27
    Marker Score: 5157
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 1.27
    Marker Score: 530
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 1.25
    Marker Score: 1263
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 1.24
    Marker Score: 3387
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.24
    Marker Score: 1554
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.23
    Marker Score: 12689
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.21
    Marker Score: 5014
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 1.19
    Marker Score: 378
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.19
    Marker Score: 4680
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 1.19
    Marker Score: 2236
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 1.19
    Marker Score: 1269
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 1.17
    Marker Score: 1105
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.17
    Marker Score: 4915.5
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.17
    Marker Score: 25012
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 1.16
    Marker Score: 1305
  • Cell Name: oocyte (CL0000023)
    Fold Change: 1.16
    Marker Score: 287
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.16
    Marker Score: 2541
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 1.15
    Marker Score: 265
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 1.15
    Marker Score: 469
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 1.15
    Marker Score: 363
  • Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
    Fold Change: 1.14
    Marker Score: 490
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.13
    Marker Score: 659
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 1.13
    Marker Score: 707
  • Cell Name: NKp46-positive innate lymphoid cell, human (CL0001076)
    Fold Change: 1.11
    Marker Score: 3247
  • Cell Name: neural cell (CL0002319)
    Fold Change: 1.11
    Marker Score: 536
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 1.11
    Marker Score: 260
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 1.11
    Marker Score: 319
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.09
    Marker Score: 4709
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 1.09
    Marker Score: 570
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 1.08
    Marker Score: 4440
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.08
    Marker Score: 259
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 1.07
    Marker Score: 1339
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 1.07
    Marker Score: 210
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 1.07
    Marker Score: 2946
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 1.06
    Marker Score: 2407
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 1.05
    Marker Score: 267
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 1.04
    Marker Score: 389
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 1.04
    Marker Score: 335
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.04
    Marker Score: 901.5
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 1.04
    Marker Score: 4323
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 1.03
    Marker Score: 998
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 1.03
    Marker Score: 2936
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.02
    Marker Score: 11543
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 1.02
    Marker Score: 253
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.01
    Marker Score: 1089
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 1.01
    Marker Score: 372
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.01
    Marker Score: 488
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71577
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.99
    Marker Score: 347
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.99
    Marker Score: 10002.5
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 0.99
    Marker Score: 47801
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.99
    Marker Score: 298
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 0.99
    Marker Score: 1223
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.99
    Marker Score: 332
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.98
    Marker Score: 2239
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30367
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.98
    Marker Score: 896
  • Cell Name: IgG memory B cell (CL0000979)
    Fold Change: 0.97
    Marker Score: 586
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.97
    Marker Score: 864
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.97
    Marker Score: 514
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 0.97
    Marker Score: 2527
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.96
    Marker Score: 2299
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.96
    Marker Score: 995
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.96
    Marker Score: 332
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.96
    Marker Score: 353.5
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.96
    Marker Score: 1408
  • Cell Name: IgA plasmablast (CL0000984)
    Fold Change: 0.95
    Marker Score: 250
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.95
    Marker Score: 1013
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 0.94
    Marker Score: 250
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.94
    Marker Score: 1307
  • Cell Name: DN1 thymic pro-T cell (CL0000894)
    Fold Change: 0.94
    Marker Score: 292
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 0.94
    Marker Score: 945

Hover over a box to see details here...

Hover over a box to see details here...

Hover over a box to see details here...

Other Information

**Key Characteristics** TERF1 is a multifunctional protein that exhibits several key characteristics: 1. **Telomere binding**: TERF1 binds specifically to telomeric DNA sequences, recognizing the G-rich strand and facilitating telomere maintenance. 2. **Telomere length regulation**: TERF1 regulates telomere length by inhibiting telomerase activity and promoting telomere shortening. 3. **Telomere protection**: TERF1 protects telomeres from degradation and fusion with neighboring chromosomes. 4. **DNA damage response**: TERF1 recognizes and responds to DNA damage, particularly at telomeres, by inhibiting DNA repair and promoting telomere shortening. 5. **Cell cycle regulation**: TERF1 regulates the cell cycle by inhibiting DNA replication and promoting cell cycle arrest at the G2/M phase. **Pathways and Functions** TERF1 is involved in several cellular pathways and functions, including: 1. **Telomere maintenance**: TERF1 regulates telomere length and prevents telomere shortening by inhibiting telomerase activity. 2. **DNA damage response**: TERF1 recognizes and responds to DNA damage, particularly at telomeres, by inhibiting DNA repair and promoting telomere shortening. 3. **Cell cycle regulation**: TERF1 regulates the cell cycle by inhibiting DNA replication and promoting cell cycle arrest at the G2/M phase. 4. **Chromatin remodeling**: TERF1 regulates chromatin remodeling by interacting with chromatin-modifying enzymes. 5. **Stress response**: TERF1 responds to cellular stress by regulating telomere length and promoting cell cycle arrest. **Clinical Significance** Dysregulation of TERF1 has been linked to various diseases, including: 1. **Cancer**: TERF1 dysfunction has been implicated in cancer development and progression. 2. **Premature aging**: TERF1 dysfunction has been linked to premature aging and telomere-related disorders. 3. **Telomere-related disorders**: TERF1 dysfunction has been implicated in telomere-related disorders, including telomere shortening syndrome. 4. **Neurodegenerative diseases**: TERF1 dysfunction has been linked to neurodegenerative diseases, including Alzheimer's disease and Parkinson's disease. In conclusion, TERF1 is a crucial protein involved in maintaining telomere length and preventing telomere dysfunction. Dysregulation of TERF1 has been linked to various diseases, highlighting the importance of this protein in maintaining genomic stability. Further research is needed to fully understand the mechanisms of TERF1 regulation and its role in disease development.

Genular Protein ID: 3541506149

Symbol: TERF1_HUMAN

Name: Telomeric repeat-binding factor 1

UniProtKB Accession Codes:

P54274 A7XP29 Q15553 Q8NHT6 Q93029

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 2 CORUM 1 CTD 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 ELM 1 EMBL 8 EMDB 2 EPD 1 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 39 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 IDEAL 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 23 PDBsum 17 PIR 1 PIRSF 1 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 14 RefSeq 2 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7502076

Title: A human telomeric protein.

PubMed ID: 7502076

DOI: 10.1126/science.270.5242.1663

PubMed ID: 9326950

Title: Human telomeres contain two distinct Myb-related proteins, TRF1 and TRF2.

PubMed ID: 9326950

DOI: 10.1038/ng1097-231

PubMed ID: 9391075

Title: Characterization and cell cycle regulation of the related human telomeric proteins Pin2 and TRF1 suggest a role in mitosis.

PubMed ID: 9391075

DOI: 10.1073/pnas.94.25.13618

PubMed ID: 16421571

Title: DNA sequence and analysis of human chromosome 8.

PubMed ID: 16421571

DOI: 10.1038/nature04406

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8614633

Title: The telobox, a Myb-related telomeric DNA binding motif found in proteins from yeast, plants and human.

PubMed ID: 8614633

DOI: 10.1093/nar/24.7.1294

PubMed ID: 11375976

Title: Telomeric protein Pin2/TRF1 as an important ATM target in response to double strand DNA breaks.

PubMed ID: 11375976

DOI: 10.1074/jbc.m011534200

PubMed ID: 11943150

Title: Involvement of the telomeric protein Pin2/TRF1 in the regulation of the mitotic spindle.

PubMed ID: 11943150

DOI: 10.1016/s0014-5793(02)02363-3

PubMed ID: 11739745

Title: Role for the related poly(ADP-Ribose) polymerases tankyrase 1 and 2 at human telomeres.

PubMed ID: 11739745

DOI: 10.1128/mcb.22.1.332-342.2002

PubMed ID: 12768206

Title: POT1 as a terminal transducer of TRF1 telomere length control.

PubMed ID: 12768206

DOI: 10.1038/nature01688

PubMed ID: 15316005

Title: TIN2 binds TRF1 and TRF2 simultaneously and stabilizes the TRF2 complex on telomeres.

PubMed ID: 15316005

DOI: 10.1074/jbc.m409047200

PubMed ID: 15383534

Title: Telosome, a mammalian telomere-associated complex formed by multiple telomeric proteins.

PubMed ID: 15383534

DOI: 10.1074/jbc.m409293200

PubMed ID: 16166375

Title: Shelterin: the protein complex that shapes and safeguards human telomeres.

PubMed ID: 16166375

DOI: 10.1101/gad.1346005

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19164295

Title: Ubiquitin ligase RLIM modulates telomere length homeostasis through a proteolysis of TRF1.

PubMed ID: 19164295

DOI: 10.1074/jbc.m806702200

PubMed ID: 19487455

Title: GNL3L stabilizes the TRF1 complex and promotes mitotic transition.

PubMed ID: 19487455

DOI: 10.1083/jcb.200812121

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 23959892

Title: Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.

PubMed ID: 23959892

DOI: 10.1073/pnas.1300600110

PubMed ID: 24692559

Title: The 68-kDa telomeric repeat binding factor 1 (TRF1)-associated protein (TAP68) interacts with and recruits TRF1 to the spindle pole during mitosis.

PubMed ID: 24692559

DOI: 10.1074/jbc.m113.526244

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 9739097

Title: Solution structure of the DNA-binding domain of human telomeric protein, hTRF1.

PubMed ID: 9739097

DOI: 10.1016/s0969-2126(98)00106-3

PubMed ID: 11738049

Title: Solution structure of a telomeric DNA complex of human TRF1.

PubMed ID: 11738049

DOI: 10.1016/s0969-2126(01)00688-8

PubMed ID: 11545737

Title: Structure of the TRFH dimerization domain of the human telomeric proteins TRF1 and TRF2.

PubMed ID: 11545737

DOI: 10.1016/s1097-2765(01)00321-5

PubMed ID: 15608617

Title: How the human telomeric proteins TRF1 and TRF2 recognize telomeric DNA: a view from high-resolution crystal structures.

PubMed ID: 15608617

DOI: 10.1038/sj.embor.7400314

PubMed ID: 18202258

Title: A shared docking motif in TRF1 and TRF2 used for differential recruitment of telomeric proteins.

PubMed ID: 18202258

DOI: 10.1126/science.1151804

PubMed ID: 20159592

Title: Structural basis of selective ubiquitination of TRF1 by SCFFbx4.

PubMed ID: 20159592

DOI: 10.1016/j.devcel.2010.01.007

Sequence Information:

  • Length: 439
  • Mass: 50246
  • Checksum: AB548E7D3124A211
  • Sequence:
    • MAEDVSSAAP SPRGCADGRD ADPTEEQMAE TERNDEEQFE CQELLECQVQ VGAPEEEEEE 
EEDAGLVAEA EAVAAGWMLD FLCLSLCRAF RDGRSEDFRR TRNSAEAIIH GLSSLTACQL 
RTIYICQFLT RIAAGKTLDA QFENDERITP LESALMIWGS IEKEHDKLHE EIQNLIKIQA 
IAVCMENGNF KEAEEVFERI FGDPNSHMPF KSKLLMIISQ KDTFHSFFQH FSYNHMMEKI 
KSYVNYVLSE KSSTFLMKAA AKVVESKRTR TITSQDKPSG NDVEMETEAN LDTRKSVSDK 
QSAVTESSEG TVSLLRSHKN LFLSKLQHGT QQQDLNKKER RVGTPQSTKK KKESRRATES 
RIPVSKSQPV TPEKHRARKR QAWLWEEDKN LRSGVRKYGE GNWSKILLHY KFNNRTSVML 
KDRWRTMKKL KLISSDSED

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.