TERF1
Telomeric repeat-binding factor 1
Also known as: PIN2, TERF1_HUMAN, TRBF1, TRF, TRF1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P54274
- Gene
- TERF1
- Ensembl
- ENSG00000147601
- Chromosome
- 8
- Canonical length
- 439 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoli fibrillar center,Nuclear bodies
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
439 residues, UniProt reviewed canonical sequence.
>P54274|TERF1
1 MAEDVSSAAP SPRGCADGRD ADPTEEQMAE TERNDEEQFE CQELLECQVQ VGAPEEEEEE
61 EEDAGLVAEA EAVAAGWMLD FLCLSLCRAF RDGRSEDFRR TRNSAEAIIH GLSSLTACQL
121 RTIYICQFLT RIAAGKTLDA QFENDERITP LESALMIWGS IEKEHDKLHE EIQNLIKIQA
181 IAVCMENGNF KEAEEVFERI FGDPNSHMPF KSKLLMIISQ KDTFHSFFQH FSYNHMMEKI
241 KSYVNYVLSE KSSTFLMKAA AKVVESKRTR TITSQDKPSG NDVEMETEAN LDTRKSVSDK
301 QSAVTESSEG TVSLLRSHKN LFLSKLQHGT QQQDLNKKER RVGTPQSTKK KKESRRATES
361 RIPVSKSQPV TPEKHRARKR QAWLWEEDKN LRSGVRKYGE GNWSKILLHY KFNNRTSVML
421 KDRWRTMKKL KLISSDSEDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TERF1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.45
- Highest tissue expression
- 15 nTPM
Expression across tissuesHPA
Tissue
- ovary: 15 nTPM
- cerebral cortex: 15 nTPM
- kidney: 13 nTPM
- cerebellum: 13 nTPM
- prostate: 12 nTPM
- parathyroid gland: 12 nTPM
Single-cell type
- early primary spermatocytes: 181 nCPM
- differentiating spermatogonia: 139 nCPM
- oocytes: 134 nCPM
- ovarian stromal cells: 96 nCPM
- müller glia: 87 nCPM
- schwann cells: 86 nCPM
Immune cell
- naive CD8 T-cell: 13 nTPM
- naive CD4 T-cell: 12 nTPM
- memory B-cell: 12 nTPM
- basophil: 12 nTPM
- memory CD8 T-cell: 11 nTPM
- plasmacytoid DC: 11 nTPM
Brain region
- cerebellum: 20 nTPM
- cerebral cortex: 17 nTPM
- white matter: 16 nTPM
- spinal cord: 14 nTPM
- basal ganglia: 14 nTPM
- hippocampal formation: 13 nTPM
ReferencesPubMed · IEDB
Publications for TERF1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.
Reference: AutoantibodyPubMed
2 publications
- Telomere Length and Development of Systemic Lupus Erythematosus: A Mendelian Randomization Study.
2022 · Arthritis Rheumatol · RCR 2.7 · 34 citations - Autoantibodies targeting telomere-associated proteins in systemic sclerosis.
2021 · Ann Rheum Dis · RCR 2.3 · 35 citations
Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.37
- gnomAD pLI
- 0.91
- gnomAD missense Z
- 0.37
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 13% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell division
- meiotic telomere clustering
- negative regulation of DNA replication
- negative regulation of telomere maintenance via semi-conservative replication
- negative regulation of telomere maintenance via telomerase
- negative regulation of telomere maintenance via telomere lengthening
- negative regulation of telomeric D-loop disassembly
- positive regulation of telomere maintenance
- response to xenobiotic stimulus
- t-circle formation
- telomere capping
- telomere maintenance
- telomere maintenance via telomerase
- telomeric D-loop disassembly
- negative regulation of establishment of protein localization to telomere
- negative regulation of establishment of protein-containing complex localization to telomere
- negative regulation of establishment of RNA localization to telomere
- positive regulation of shelterin complex assembly
Molecular functions
- ankyrin repeat binding
- DNA binding
- DNA binding, bending
- double-stranded telomeric DNA binding
- G-rich strand telomeric DNA binding
- identical protein binding
- microtubule binding
- protein homodimerization activity
- telomeric DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- SANT/Myb domain
- Homedomain-like superfamily
- Telomere repeat-binding factor, dimerisation domain
- Telomeric repeat-binding factor 1/2
- Myb domain
- Telomere repeat-binding factor, dimerisation domain superfamily
- Myb-like DNA-binding domain
- Telomere repeat binding factor (TRF)
- Telomeric Repeat-Binding Domain-Containing Protein
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of TERF1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TERF1 as an antibody target. Whether an autoantibody or antibody against TERF1 could matter depends on whether native TERF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TERF1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label TERF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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