UniProtKB - P54274 (TERF1_HUMAN)
Telomeric repeat-binding factor 1
TERF1
Functioni
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 403 – 428 | H-T-H motifPROSITE-ProRule annotationAdd BLAST | 26 |
GO - Molecular functioni
- ankyrin repeat binding Source: BHF-UCL
- DNA binding Source: UniProtKB
- DNA binding, bending Source: BHF-UCL
- double-stranded telomeric DNA binding Source: UniProtKB
- G-rich strand telomeric DNA binding Source: BHF-UCL
- identical protein binding Source: BHF-UCL
- microtubule binding Source: UniProtKB
- protein C-terminus binding Source: BHF-UCL
- protein homodimerization activity Source: UniProtKB
- telomeric DNA binding Source: BHF-UCL
GO - Biological processi
- cell cycle Source: UniProtKB-KW
- cell division Source: UniProtKB-KW
- negative regulation of DNA replication Source: BHF-UCL
- negative regulation of establishment of protein-containing complex localization to telomere Source: BHF-UCL
- negative regulation of establishment of protein localization to telomere Source: BHF-UCL
- negative regulation of establishment of RNA localization to telomere Source: BHF-UCL
- negative regulation of exonuclease activity Source: BHF-UCL
- negative regulation of telomerase activity Source: BHF-UCL
- negative regulation of telomere maintenance via semi-conservative replication Source: BHF-UCL
- negative regulation of telomere maintenance via telomerase Source: BHF-UCL
- negative regulation of telomere maintenance via telomere lengthening Source: BHF-UCL
- negative regulation of telomeric D-loop disassembly Source: BHF-UCL
- positive regulation of shelterin complex assembly Source: BHF-UCL
- t-circle formation Source: BHF-UCL
- telomere capping Source: Reactome
- telomere maintenance Source: BHF-UCL
- telomere maintenance via telomerase Source: BHF-UCL
- telomeric D-loop disassembly Source: BHF-UCL
Keywordsi
Molecular function | DNA-binding |
Biological process | Cell cycle, Cell division, Mitosis |
Enzyme and pathway databases
PathwayCommonsi | P54274 |
Reactomei | R-HSA-110328, Recognition and association of DNA glycosylase with site containing an affected pyrimidine R-HSA-110329, Cleavage of the damaged pyrimidine R-HSA-110330, Recognition and association of DNA glycosylase with site containing an affected purine R-HSA-110331, Cleavage of the damaged purine R-HSA-1221632, Meiotic synapsis R-HSA-171306, Packaging Of Telomere Ends R-HSA-171319, Telomere Extension By Telomerase R-HSA-174411, Polymerase switching on the C-strand of the telomere R-HSA-174414, Processive synthesis on the C-strand of the telomere R-HSA-174417, Telomere C-strand (Lagging Strand) Synthesis R-HSA-174430, Telomere C-strand synthesis initiation R-HSA-174437, Removal of the Flap Intermediate from the C-strand R-HSA-2559586, DNA Damage/Telomere Stress Induced Senescence R-HSA-9670095, Inhibition of DNA recombination at telomere |
SIGNORi | P54274 |
Names & Taxonomyi
Protein namesi | Recommended name: Telomeric repeat-binding factor 1Alternative name(s): NIMA-interacting protein 2 TTAGGG repeat-binding factor 1 Telomeric protein Pin2/TRF1 |
Gene namesi | Name:TERF1 Synonyms:PIN2, TRBF1, TRF, TRF1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:11728, TERF1 |
MIMi | 600951, gene |
neXtProti | NX_P54274 |
VEuPathDBi | HostDB:ENSG00000147601.13 |
Subcellular locationi
Cytoskeleton
- spindle Source: UniProtKB-SubCell
Nucleus
- fibrillar center Source: HPA
- nuclear body Source: HPA
- nuclear chromosome, telomeric region Source: BHF-UCL
- nuclear telomere cap complex Source: BHF-UCL
- nucleolus Source: BHF-UCL
- nucleoplasm Source: Reactome
- nucleus Source: UniProtKB
- shelterin complex Source: BHF-UCL
Other locations
- chromosome, telomeric region Source: UniProtKB
- cytoplasm Source: UniProtKB-KW
Keywords - Cellular componenti
Chromosome, Cytoplasm, Cytoskeleton, Nucleus, TelomerePathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 74 | A → D: Abolishes dimerization and telomere binding; when associated with P-75. 1 Publication | 1 | |
Mutagenesisi | 75 | A → P: Abolishes dimerization and telomere binding; when associated with D-74. 1 Publication | 1 | |
Mutagenesisi | 77 | W → P: Abolishes telomere binding. 1 Publication | 1 | |
Mutagenesisi | 81 | F → P: Abolishes telomere binding. 1 Publication | 1 | |
Mutagenesisi | 90 | F → P: Diminishes telomere binding. | 1 | |
Mutagenesisi | 115 | L → R: Loss of interaction with FBXO4. 1 Publication | 1 | |
Mutagenesisi | 120 | L → R: Loss of interaction with FBXO4. 1 Publication | 1 | |
Mutagenesisi | 219 | S → A: Loss of phosphorylation; induction of mitotic entry and apoptosis and increased radiation hypersensitivity of ataxia-telangiectasia cells. 1 Publication | 1 | |
Mutagenesisi | 219 | S → D or E: Fails to induce apoptosis and decreases radiation hypersensitivity of ataxia-telangiectasia cells (phospho-mimicking mutants). 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 7013 |
OpenTargetsi | ENSG00000147601 |
PharmGKBi | PA36445 |
Miscellaneous databases
Pharosi | P54274, Tbio |
Genetic variation databases
BioMutai | TERF1 |
DMDMi | 206729904 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000197129 | 2 – 439 | Telomeric repeat-binding factor 1Add BLAST | 438 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanineCombined sources | 1 | |
Modified residuei | 11 | PhosphoserineCombined sources | 1 | |
Cross-linki | 213 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 219 | Phosphoserine; by ATM1 Publication | 1 | |
Cross-linki | 325 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 366 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources |
Post-translational modificationi
Keywords - PTMi
Acetylation, ADP-ribosylation, Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | P54274 |
jPOSTi | P54274 |
MassIVEi | P54274 |
MaxQBi | P54274 |
PaxDbi | P54274 |
PeptideAtlasi | P54274 |
PRIDEi | P54274 |
ProteomicsDBi | 56664 [P54274-1] 56665 [P54274-2] |
PTM databases
iPTMneti | P54274 |
PhosphoSitePlusi | P54274 |
Expressioni
Tissue specificityi
Inductioni
Gene expression databases
Bgeei | ENSG00000147601, Expressed in sural nerve and 249 other tissues |
ExpressionAtlasi | P54274, baseline and differential |
Genevisiblei | P54274, HS |
Organism-specific databases
HPAi | ENSG00000147601, Low tissue specificity |
Interactioni
Subunit structurei
Homodimer; can contain both isoforms.
Found in a complex with POT1; TINF2 and TNKS1.
Interacts with ATM, TINF2, TNKS1, TNKS2, PINX1, NEK2 and MAPRE1.
Component of the shelterin complex (telosome) composed of TERF1, TERF2, TINF2, TERF2IP ACD and POT1.
Interacts with RLIM (via N-terminus).
Interacts with FBXO4. Interaction with TINF2 protects against interaction with FBXO4 and subsequent polyubiquitination and proteasomal degradation.
Interacts with GNL3L; this interaction promotes homodimerization.
Interacts with TIN2.
Interacts with RTEL1. Interactions with GNL3L and TIN2 are mutually exclusive.
Interacts with CCDC79/TERB1 (By similarity).
By similarityBinary interactionsi
P54274
Isoform 2 [P54274-2]
GO - Molecular functioni
- ankyrin repeat binding Source: BHF-UCL
- identical protein binding Source: BHF-UCL
- microtubule binding Source: UniProtKB
- protein C-terminus binding Source: BHF-UCL
- protein homodimerization activity Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 112872, 325 interactors |
ComplexPortali | CPX-152, Shelterin complex |
CORUMi | P54274 |
DIPi | DIP-29412N |
ELMi | P54274 |
IntActi | P54274, 238 interactors |
MINTi | P54274 |
STRINGi | 9606.ENSP00000276603 |
Miscellaneous databases
RNActi | P54274, protein |
Structurei
Secondary structure
3D structure databases
BMRBi | P54274 |
SMRi | P54274 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P54274 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 375 – 432 | HTH myb-typePROSITE-ProRule annotationAdd BLAST | 58 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 58 – 268 | TRFH dimerizationAdd BLAST | 211 | |
Regioni | 265 – 378 | Interaction with RLIM1 PublicationAdd BLAST | 114 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 337 – 356 | Nuclear localization signalSequence analysisAdd BLAST | 20 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 2 – 71 | Asp/Glu-rich (acidic)Add BLAST | 70 | |
Compositional biasi | 55 – 62 | Poly-Glu | 8 |
Domaini
Phylogenomic databases
eggNOGi | ENOG502RYK3, Eukaryota |
GeneTreei | ENSGT00940000155268 |
HOGENOMi | CLU_034265_0_0_1 |
InParanoidi | P54274 |
OMAi | WMLEFAC |
OrthoDBi | 605826at2759 |
PhylomeDBi | P54274 |
TreeFami | TF333209 |
Family and domain databases
Gene3Di | 1.25.40.210, 1 hit |
IDEALi | IID00155 |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR017930, Myb_dom IPR001005, SANT/Myb IPR013867, Telomere_rpt-bd_fac_dimer_dom IPR036507, Telomere_rpt-bd_fac_dimer_sf IPR017357, TERF1/2 |
Pfami | View protein in Pfam PF00249, Myb_DNA-binding, 1 hit PF08558, TRF, 1 hit |
PIRSFi | PIRSF038016, Telomere_bd-1_Pin2, 1 hit |
SMARTi | View protein in SMART SM00717, SANT, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit SSF63600, SSF63600, 1 hit |
PROSITEi | View protein in PROSITE PS51294, HTH_MYB, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAEDVSSAAP SPRGCADGRD ADPTEEQMAE TERNDEEQFE CQELLECQVQ
60 70 80 90 100
VGAPEEEEEE EEDAGLVAEA EAVAAGWMLD FLCLSLCRAF RDGRSEDFRR
110 120 130 140 150
TRNSAEAIIH GLSSLTACQL RTIYICQFLT RIAAGKTLDA QFENDERITP
160 170 180 190 200
LESALMIWGS IEKEHDKLHE EIQNLIKIQA IAVCMENGNF KEAEEVFERI
210 220 230 240 250
FGDPNSHMPF KSKLLMIISQ KDTFHSFFQH FSYNHMMEKI KSYVNYVLSE
260 270 280 290 300
KSSTFLMKAA AKVVESKRTR TITSQDKPSG NDVEMETEAN LDTRKSVSDK
310 320 330 340 350
QSAVTESSEG TVSLLRSHKN LFLSKLQHGT QQQDLNKKER RVGTPQSTKK
360 370 380 390 400
KKESRRATES RIPVSKSQPV TPEKHRARKR QAWLWEEDKN LRSGVRKYGE
410 420 430
GNWSKILLHY KFNNRTSVML KDRWRTMKKL KLISSDSED
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE5RFJ5 | E5RFJ5_HUMAN | Telomeric repeat-binding factor 1 | TERF1 | 168 | Annotation score: | ||
E7EWM7 | E7EWM7_HUMAN | Telomeric repeat-binding factor 1 | TERF1 | 186 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 14 | G → R in AAB54036 (PubMed:7502076).Curated | 1 | |
Sequence conflicti | 14 | G → R in AAB17975 (PubMed:9326950).Curated | 1 | |
Sequence conflicti | 14 | G → R in AAB81137 (PubMed:9326950).Curated | 1 | |
Sequence conflicti | 14 | G → R in AAB53363 (PubMed:9391075).Curated | 1 | |
Sequence conflicti | 338 | K → E in CAA63768 (PubMed:8614633).Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_003303 | 296 – 315 | Missing in isoform 2. 3 PublicationsAdd BLAST | 20 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U40705 mRNA Translation: AAB54036.1 AF003001 mRNA Translation: AAB81137.1 AH003684 Genomic DNA Translation: AAB17975.1 U74382 mRNA Translation: AAB53363.1 EU088287 Genomic DNA Translation: ABV02580.1 AC022893 Genomic DNA No translation available. BC029378 mRNA Translation: AAH29378.1 X93511 mRNA Translation: CAA63768.1 |
CCDSi | CCDS6210.1 [P54274-2] CCDS6211.1 [P54274-1] |
PIRi | A57573 |
RefSeqi | NP_003209.2, NM_003218.3 [P54274-2] NP_059523.2, NM_017489.2 [P54274-1] |
Genome annotation databases
Ensembli | ENST00000276602; ENSP00000276602; ENSG00000147601 [P54274-2] ENST00000276603; ENSP00000276603; ENSG00000147601 [P54274-1] |
GeneIDi | 7013 |
KEGGi | hsa:7013 |
UCSCi | uc003xzd.3, human [P54274-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
NIEHS SNPs |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U40705 mRNA Translation: AAB54036.1 AF003001 mRNA Translation: AAB81137.1 AH003684 Genomic DNA Translation: AAB17975.1 U74382 mRNA Translation: AAB53363.1 EU088287 Genomic DNA Translation: ABV02580.1 AC022893 Genomic DNA No translation available. BC029378 mRNA Translation: AAH29378.1 X93511 mRNA Translation: CAA63768.1 |
CCDSi | CCDS6210.1 [P54274-2] CCDS6211.1 [P54274-1] |
PIRi | A57573 |
RefSeqi | NP_003209.2, NM_003218.3 [P54274-2] NP_059523.2, NM_017489.2 [P54274-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1BA5 | NMR | - | A | 378-430 | [»] | |
1H6O | X-ray | 2.90 | A | 62-265 | [»] | |
1ITY | NMR | - | A | 371-439 | [»] | |
1IV6 | NMR | - | A | 371-439 | [»] | |
1W0T | X-ray | 2.00 | A/B | 379-431 | [»] | |
3BQO | X-ray | 2.00 | A | 58-268 | [»] | |
3L82 | X-ray | 2.40 | A | 58-268 | [»] | |
5HKP | X-ray | 2.20 | C/D | 1-55 | [»] | |
5WIR | X-ray | 2.10 | A/B | 62-265 | [»] | |
5XUP | X-ray | 2.10 | A/B | 65-266 | [»] | |
BMRBi | P54274 | |||||
SMRi | P54274 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 112872, 325 interactors |
ComplexPortali | CPX-152, Shelterin complex |
CORUMi | P54274 |
DIPi | DIP-29412N |
ELMi | P54274 |
IntActi | P54274, 238 interactors |
MINTi | P54274 |
STRINGi | 9606.ENSP00000276603 |
PTM databases
iPTMneti | P54274 |
PhosphoSitePlusi | P54274 |
Genetic variation databases
BioMutai | TERF1 |
DMDMi | 206729904 |
Proteomic databases
EPDi | P54274 |
jPOSTi | P54274 |
MassIVEi | P54274 |
MaxQBi | P54274 |
PaxDbi | P54274 |
PeptideAtlasi | P54274 |
PRIDEi | P54274 |
ProteomicsDBi | 56664 [P54274-1] 56665 [P54274-2] |
Protocols and materials databases
Antibodypediai | 12281, 654 antibodies |
DNASUi | 7013 |
Genome annotation databases
Ensembli | ENST00000276602; ENSP00000276602; ENSG00000147601 [P54274-2] ENST00000276603; ENSP00000276603; ENSG00000147601 [P54274-1] |
GeneIDi | 7013 |
KEGGi | hsa:7013 |
UCSCi | uc003xzd.3, human [P54274-1] |
Organism-specific databases
CTDi | 7013 |
DisGeNETi | 7013 |
GeneCardsi | TERF1 |
HGNCi | HGNC:11728, TERF1 |
HPAi | ENSG00000147601, Low tissue specificity |
MIMi | 600951, gene |
neXtProti | NX_P54274 |
OpenTargetsi | ENSG00000147601 |
PharmGKBi | PA36445 |
VEuPathDBi | HostDB:ENSG00000147601.13 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502RYK3, Eukaryota |
GeneTreei | ENSGT00940000155268 |
HOGENOMi | CLU_034265_0_0_1 |
InParanoidi | P54274 |
OMAi | WMLEFAC |
OrthoDBi | 605826at2759 |
PhylomeDBi | P54274 |
TreeFami | TF333209 |
Enzyme and pathway databases
PathwayCommonsi | P54274 |
Reactomei | R-HSA-110328, Recognition and association of DNA glycosylase with site containing an affected pyrimidine R-HSA-110329, Cleavage of the damaged pyrimidine R-HSA-110330, Recognition and association of DNA glycosylase with site containing an affected purine R-HSA-110331, Cleavage of the damaged purine R-HSA-1221632, Meiotic synapsis R-HSA-171306, Packaging Of Telomere Ends R-HSA-171319, Telomere Extension By Telomerase R-HSA-174411, Polymerase switching on the C-strand of the telomere R-HSA-174414, Processive synthesis on the C-strand of the telomere R-HSA-174417, Telomere C-strand (Lagging Strand) Synthesis R-HSA-174430, Telomere C-strand synthesis initiation R-HSA-174437, Removal of the Flap Intermediate from the C-strand R-HSA-2559586, DNA Damage/Telomere Stress Induced Senescence R-HSA-9670095, Inhibition of DNA recombination at telomere |
SIGNORi | P54274 |
Miscellaneous databases
BioGRID-ORCSi | 7013, 584 hits in 900 CRISPR screens |
ChiTaRSi | TERF1, human |
EvolutionaryTracei | P54274 |
GeneWikii | TERF1 |
GenomeRNAii | 7013 |
Pharosi | P54274, Tbio |
PROi | PR:P54274 |
RNActi | P54274, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000147601, Expressed in sural nerve and 249 other tissues |
ExpressionAtlasi | P54274, baseline and differential |
Genevisiblei | P54274, HS |
Family and domain databases
Gene3Di | 1.25.40.210, 1 hit |
IDEALi | IID00155 |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR017930, Myb_dom IPR001005, SANT/Myb IPR013867, Telomere_rpt-bd_fac_dimer_dom IPR036507, Telomere_rpt-bd_fac_dimer_sf IPR017357, TERF1/2 |
Pfami | View protein in Pfam PF00249, Myb_DNA-binding, 1 hit PF08558, TRF, 1 hit |
PIRSFi | PIRSF038016, Telomere_bd-1_Pin2, 1 hit |
SMARTi | View protein in SMART SM00717, SANT, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit SSF63600, SSF63600, 1 hit |
PROSITEi | View protein in PROSITE PS51294, HTH_MYB, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | TERF1_HUMAN | |
Accessioni | P54274Primary (citable) accession number: P54274 Secondary accession number(s): A7XP29 Q93029 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1996 |
Last sequence update: | September 23, 2008 | |
Last modified: | February 10, 2021 | |
This is version 227 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 8
Human chromosome 8: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references