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UniProtKB - P54274 (TERF1_HUMAN)

Entry version 219 (13 Nov 2019)
Sequence version 3 (23 Sep 2008)
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Protein

Telomeric repeat-binding factor 1

Gene

TERF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Binds the telomeric double-stranded 5'-TTAGGG-3' repeat and negatively regulates telomere length. Involved in the regulation of the mitotic spindle. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded 5'-TTAGGG-3' repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi403 – 428H-T-H motifPROSITE-ProRule annotationAdd BLAST26

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDNA-binding
Biological processCell cycle, Cell division, Mitosis

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...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-2559586 DNA Damage/Telomere Stress Induced Senescence

SIGNOR Signaling Network Open Resource

More...SIGNORi		P54274

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Telomeric repeat-binding factor 1
Alternative name(s):
NIMA-interacting protein 2
TTAGGG repeat-binding factor 1
Telomeric protein Pin2/TRF1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TERF1
Synonyms:PIN2, TRBF1, TRF, TRF1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 8

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:11728 TERF1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600951 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P54274

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Chromosome, Cytoplasm, Cytoskeleton, Nucleus, Telomere

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi74A → D: Abolishes dimerization and telomere binding; when associated with P-75. 1 Publication1
Mutagenesisi75A → P: Abolishes dimerization and telomere binding; when associated with D-74. 1 Publication1
Mutagenesisi77W → P: Abolishes telomere binding. 1 Publication1
Mutagenesisi81F → P: Abolishes telomere binding. 1 Publication1
Mutagenesisi90F → P: Diminishes telomere binding. 1
Mutagenesisi115L → R: Loss of interaction with FBXO4. 1 Publication1
Mutagenesisi120L → R: Loss of interaction with FBXO4. 1 Publication1
Mutagenesisi219S → A: Loss of phosphorylation; induction of mitotic entry and apoptosis and increased radiation hypersensitivity of ataxia-telangiectasia cells. 1 Publication1
Mutagenesisi219S → D or E: Fails to induce apoptosis and decreases radiation hypersensitivity of ataxia-telangiectasia cells (phospho-mimicking mutants). 1 Publication1

Organism-specific databases

DisGeNET

More...DisGeNETi		7013

Open Targets

More...OpenTargetsi		ENSG00000147601

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA36445

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P54274

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		TERF1

Domain mapping of disease mutations (DMDM)

More...DMDMi		206729904

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001971292 – 439Telomeric repeat-binding factor 1Add BLAST438

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1
Modified residuei11PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki213Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei219Phosphoserine; by ATM1 Publication1
Cross-linki325Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki366Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated preferentially on Ser-219 in an ATM-dependent manner in response to ionizing DNA damage.1 Publication
ADP-ribosylation by TNKS1 or TNKS2 diminishes its ability to bind to telomeric DNA.
Ubiquitinated by RLIM/RNF12, leading to its degradation by the proteasome. Ubiquitinated by a SCF (SKP1-CUL1-F-box protein) ubiquitin-protein ligase complex, leading to its degradation by the proteasome.2 Publications

Keywords - PTMi

Acetylation, ADP-ribosylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P54274

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P54274

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P54274

MaxQB - The MaxQuant DataBase

More...MaxQBi		P54274

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P54274

PeptideAtlas

More...PeptideAtlasi		P54274

PRoteomics IDEntifications database

More...PRIDEi		P54274

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		56664 [P54274-1]
56665 [P54274-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P54274

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P54274

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highly expressed and ubiquitous. Isoform Pin2 predominates.

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Expression is tightly regulated during the cell cycle; levels are low in G1 and S phase and increase during G2 phase and mitosis.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000147601 Expressed in 234 organ(s), highest expression level in frontal cortex

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P54274 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P54274 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA048379

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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 similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
Q9BWD12EBI-710997,EBI-1047273
Q031542EBI-710997,EBI-742064
Q014332EBI-710997,EBI-8796759
P494182EBI-710997,EBI-7121510
Q133155EBI-711018,EBI-495465
P541323EBI-710997,EBI-621372
Q6P2H32EBI-710997,EBI-2808308
Q9BR762EBI-710997,EBI-351152
P536742EBI-710997,EBI-7519424
Q148942EBI-710997,EBI-7107048
Q96C572EBI-710997,EBI-11305571
Q9UMR22EBI-710997,EBI-719232
Q9BUQ82EBI-710997,EBI-540096
O001482EBI-710997,EBI-348253
P256852EBI-710997,EBI-357034
O435982EBI-710997,EBI-748674
Q9H4G02EBI-710997,EBI-465536
Q9UKT5-13EBI-711018,EBI-960421
P073322EBI-710997,EBI-1055635
P486372EBI-710997,EBI-2969145
P143172EBI-710997,EBI-750369
Q96MH22EBI-710997,EBI-5460660
Q930992EBI-710997,EBI-3907760
P170662EBI-710997,EBI-355106
Q141452EBI-710997,EBI-751001
Q8TBB52EBI-710997,EBI-8472352
P071952EBI-710997,EBI-358748
Q6UWE02EBI-710997,EBI-720984
Q156912EBI-710997,EBI-1004115
P409252EBI-710997,EBI-709625
Q9BU762EBI-710997,EBI-742459
P260382EBI-710997,EBI-528768
P552092EBI-710997,EBI-356392
P071962EBI-710997,EBI-475646
Q9UGY12EBI-710997,EBI-716098
Q9Y5A78EBI-710997,EBI-3936907
Q9UNF02EBI-710997,EBI-742503
O960132EBI-710997,EBI-713738
P129552EBI-710997,EBI-948765
Q96BK53EBI-710997,EBI-721782
O153552EBI-710997,EBI-725702
Q068302EBI-710997,EBI-353193
P300412EBI-710997,EBI-2255129
P548292EBI-710997,EBI-1220572
P0DJD32EBI-710997,EBI-8638511
O947612EBI-710997,EBI-722861
Q8N5U62EBI-710997,EBI-714023
Q9H6T32EBI-710997,EBI-356928
P840982EBI-710997,EBI-916524
O951972EBI-710997,EBI-740467
Q9Y3L32EBI-710997,EBI-346869
Q9NUL52EBI-710997,EBI-10313866
O760702EBI-710997,EBI-1053810
P356102EBI-710997,EBI-6621955
P196232EBI-710997,EBI-1056183
Q8WVM74EBI-710997,EBI-1175097
O002672EBI-710997,EBI-710464
P434052EBI-710997,EBI-78302
Q9NWX62EBI-710997,EBI-746510
Q9BSI411EBI-710997,EBI-717399
Q9BSI4-32EBI-710997,EBI-717418
P294012EBI-710997,EBI-1050560
O952714EBI-710997,EBI-1105254
Q9H2K22EBI-710997,EBI-4398527
O147872EBI-710997,EBI-431907
P601742EBI-710997,EBI-717475
Q9NXH92EBI-710997,EBI-748900
Q135092EBI-710997,EBI-350989
P233812EBI-710997,EBI-721244
O760242EBI-710997,EBI-720609

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		112872, 317 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-152 Shelterin complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P54274

Database of interacting proteins

More...DIPi		DIP-29412N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		P54274

Protein interaction database and analysis system

More...IntActi		P54274, 218 interactors

Molecular INTeraction database

More...MINTi		P54274

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000276603

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1439
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P54274

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P54274

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini375 – 432HTH myb-typePROSITE-ProRule annotationAdd BLAST58

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni58 – 268TRFH dimerizationAdd BLAST211
Regioni265 – 378Interaction with RLIM1 PublicationAdd BLAST114

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi337 – 356Nuclear localization signalSequence analysisAdd BLAST20

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi2 – 71Asp/Glu-rich (acidic)Add BLAST70
Compositional biasi55 – 62Poly-Glu8

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The acidic N-terminal domain binds to the ankyrin repeats of TNKS1 and TNKS2. The C-terminal domain binds microtubules.1 Publication
The TRFH dimerization region mediates the interaction with TINF2.1 Publication
The HTH domain is an independent structural unit and mediates binding to telomeric DNA.1 Publication

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IIKA Eukaryota
ENOG4111QH9 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000155268

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000132847

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P54274

KEGG Orthology (KO)

More...KOi		K11110

Identification of Orthologs from Complete Genome Data

More...OMAi		LRYKFNN

Database of Orthologous Groups

More...OrthoDBi		605826at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P54274

TreeFam database of animal gene trees

More...TreeFami		TF333209

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.25.40.210, 1 hit

Integrated resource of protein families, domains and functional sites

More...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

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00249 Myb_DNA-binding, 1 hit
PF08558 TRF, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF038016 Telomere_bd-1_Pin2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00717 SANT, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF46689 SSF46689, 1 hit
SSF63600 SSF63600, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51294 HTH_MYB, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P54274-1) [UniParc]FASTAAdd to basket
Also known as: TRF1

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:439
Mass (Da):50,246
Last modified:September 23, 2008 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iAB548E7D3124A211
GO
Isoform 2 (identifier: P54274-2) [UniParc]FASTAAdd to basket
Also known as: Pin2

The sequence of this isoform differs from the canonical sequence as follows:
     296-315: Missing.

Show »
Length:419
Mass (Da):48,239
Checksum:i4C261E58E09C2AF9
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E5RFJ5E5RFJ5_HUMAN
Telomeric repeat-binding factor 1
TERF1
168Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E7EWM7E7EWM7_HUMAN
Telomeric repeat-binding factor 1
TERF1
186Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti14G → R in AAB54036 (PubMed:7502076).Curated1
Sequence conflicti14G → R in AAB17975 (PubMed:9326950).Curated1
Sequence conflicti14G → R in AAB81137 (PubMed:9326950).Curated1
Sequence conflicti14G → R in AAB53363 (PubMed:9391075).Curated1
Sequence conflicti338K → E in CAA63768 (PubMed:8614633).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_003303296 – 315Missing in isoform 2. 3 PublicationsAdd BLAST20

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS6210.1 [P54274-2]
CCDS6211.1 [P54274-1]

Protein sequence database of the Protein Information Resource

More...PIRi		A57573

NCBI Reference Sequences

More...RefSeqi		NP_003209.2, NM_003218.3 [P54274-2]
NP_059523.2, NM_017489.2 [P54274-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000276602; ENSP00000276602; ENSG00000147601 [P54274-2]
ENST00000276603; ENSP00000276603; ENSG00000147601 [P54274-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		7013

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:7013

UCSC genome browser

More...UCSCi		uc003xzd.3 human [P54274-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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
CCDSiCCDS6210.1 [P54274-2]
CCDS6211.1 [P54274-1]
PIRiA57573
RefSeqiNP_003209.2, NM_003218.3 [P54274-2]
NP_059523.2, NM_017489.2 [P54274-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1BA5NMR-A378-430[»]
1H6OX-ray2.90A62-265[»]
1ITYNMR-A371-439[»]
1IV6NMR-A371-439[»]
1W0TX-ray2.00A/B379-431[»]
3BQOX-ray2.00A58-268[»]
3L82X-ray2.40A58-268[»]
5HKPX-ray2.20C/D1-55[»]
5WIRX-ray2.10A/B62-265[»]
5XUPX-ray2.10A/B65-266[»]
SMRiP54274
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi112872, 317 interactors
ComplexPortaliCPX-152 Shelterin complex
CORUMiP54274
DIPiDIP-29412N
ELMiP54274
IntActiP54274, 218 interactors
MINTiP54274
STRINGi9606.ENSP00000276603

PTM databases

iPTMnetiP54274
PhosphoSitePlusiP54274

Polymorphism and mutation databases

BioMutaiTERF1
DMDMi206729904

Proteomic databases

EPDiP54274
jPOSTiP54274
MassIVEiP54274
MaxQBiP54274
PaxDbiP54274
PeptideAtlasiP54274
PRIDEiP54274
ProteomicsDBi56664 [P54274-1]
56665 [P54274-2]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		7013

Genome annotation databases

EnsembliENST00000276602; ENSP00000276602; ENSG00000147601 [P54274-2]
ENST00000276603; ENSP00000276603; ENSG00000147601 [P54274-1]
GeneIDi7013
KEGGihsa:7013
UCSCiuc003xzd.3 human [P54274-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		7013
DisGeNETi7013

GeneCards: human genes, protein and diseases

More...GeneCardsi		TERF1
HGNCiHGNC:11728 TERF1
HPAiHPA048379
MIMi600951 gene
neXtProtiNX_P54274
OpenTargetsiENSG00000147601
PharmGKBiPA36445

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IIKA Eukaryota
ENOG4111QH9 LUCA
GeneTreeiENSGT00940000155268
HOGENOMiHOG000132847
InParanoidiP54274
KOiK11110
OMAiLRYKFNN
OrthoDBi605826at2759
PhylomeDBiP54274
TreeFamiTF333209

Enzyme and pathway databases

ReactomeiR-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-2559586 DNA Damage/Telomere Stress Induced Senescence
SIGNORiP54274

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		TERF1 human
EvolutionaryTraceiP54274

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		TERF1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		7013
PharosiP54274

Protein Ontology

More...PROi		PR:P54274

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000147601 Expressed in 234 organ(s), highest expression level in frontal cortex
ExpressionAtlasiP54274 baseline and differential
GenevisibleiP54274 HS

Family and domain databases

Gene3Di1.25.40.210, 1 hit
InterProiView 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
PfamiView protein in Pfam
PF00249 Myb_DNA-binding, 1 hit
PF08558 TRF, 1 hit
PIRSFiPIRSF038016 Telomere_bd-1_Pin2, 1 hit
SMARTiView protein in SMART
SM00717 SANT, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
SSF63600 SSF63600, 1 hit
PROSITEiView protein in PROSITE
PS51294 HTH_MYB, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTERF1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P54274
Secondary accession number(s): A7XP29
, Q15553, Q8NHT6, Q93029
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: September 23, 2008
Last modified: November 13, 2019
This is version 219 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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