TERF1 telomeric repeat binding factor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TERF1provided by HGNC
Official Full Name: telomeric repeat binding factor 1provided by HGNC
Primary source: HGNC:HGNC:11728
See related: Ensembl:ENSG00000147601 MIM:600951; AllianceGenome:HGNC:11728
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TRF; PIN2; TRF1; TRBF1; t-TRF1; hTRF1-AS
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]
Expression: Ubiquitous expression in brain (RPKM 11.2), ovary (RPKM 9.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q21.11

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (73008864..73048123)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (73437901..73477172)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (73921099..73960358)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

In silico exploration and molecular dynamics of deleterious SNPs on the human TERF1 protein triggering male infertility.
Title: In silico exploration and molecular dynamics of deleterious SNPs on the human TERF1 protein triggering male infertility.
Structural basis of telomeric nucleosome recognition by shelterin factor TRF1.
Title: Structural basis of telomeric nucleosome recognition by shelterin factor TRF1.
In Vitro Characterization of the Physical Interactions between the Long Noncoding RNA TERRA and the Telomeric Proteins TRF1 and TRF2.
Title: In Vitro Characterization of the Physical Interactions between the Long Noncoding RNA TERRA and the Telomeric Proteins TRF1 and TRF2.
Compartmentalization of telomeres through DNA-scaffolded phase separation.
Title: Compartmentalization of telomeres through DNA-scaffolded phase separation.
Structure, dynamics, and regulation of TRF1-TIN2-mediated trans- and cis-interactions on telomeric DNA.
Title: Structure, dynamics, and regulation of TRF1-TIN2-mediated trans- and cis-interactions on telomeric DNA.
Prognostic value of TERF1 expression in prostate cancer.
Title: Prognostic value of TERF1 expression in prostate cancer.
Low frequency variants associated with leukocyte telomere length in the Singapore Chinese population.
Title: Low frequency variants associated with leukocyte telomere length in the Singapore Chinese population.
TERF1 downregulation promotes the migration and invasion of the PC3 prostate cancer cell line as a target of miR155.
Title: TERF1 downregulation promotes the migration and invasion of the PC3 prostate cancer cell line as a target of miR‑155.
Dynamics of TRF1 organizing a single human telomere.
Title: Dynamics of TRF1 organizing a single human telomere.
Association of Relative Leucocyte Telomere Length and Gene Single Nucleotide Polymorphisms (TERT, TRF1, TNKS2) in Laryngeal Squamous Cell Carcinoma.
Title: Association of Relative Leucocyte Telomere Length and Gene Single Nucleotide Polymorphisms (TERT, TRF1, TNKS2) in Laryngeal Squamous Cell Carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (109)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-15399 (e-PCR)
- UniSTS:56596

TERF1_1382 (e-PCR)
- UniSTS:277802

TERF1_v446 (e-PCR)
- UniSTS:277802

D8S2279 (e-PCR)
- UniSTS:473907

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	NAS Non-traceable Author Statement more info	PubMed
enables DNA binding, bending	IDA Inferred from Direct Assay more info	PubMed
enables G-rich strand telomeric DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables ankyrin repeat binding	IPI Inferred from Physical Interaction more info	PubMed
enables double-stranded telomeric DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables double-stranded telomeric DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables microtubule binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
contributes_to telomerase activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to telomerase activity	IDA Inferred from Direct Assay more info	PubMed
enables telomeric DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in meiotic telomere clustering	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA replication	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of establishment of RNA localization to telomere	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of establishment of protein localization to telomere	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of establishment of protein-containing complex localization to telomere	IC Inferred by Curator more info	PubMed
involved_in negative regulation of exonuclease activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of telomere maintenance via semi-conservative replication	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of telomere maintenance via telomerase	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of telomere maintenance via telomerase	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of telomere maintenance via telomere lengthening	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of telomeric D-loop disassembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of telomeric D-loop disassembly	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of shelterin complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of telomere maintenance	NAS Non-traceable Author Statement more info	PubMed
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in t-circle formation	TAS Traceable Author Statement more info	PubMed
involved_in telomere capping	IDA Inferred from Direct Assay more info	PubMed
involved_in telomere maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in telomere maintenance via telomerase	IBA Inferred from Biological aspect of Ancestor more info
involved_in telomere maintenance via telomerase	IDA Inferred from Direct Assay more info	PubMed
involved_in telomere maintenance via telomerase	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in telomeric D-loop disassembly	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in chromosome, telomeric region	HDA more info	PubMed
located_in chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in fibrillar center	IDA Inferred from Direct Assay more info
located_in nuclear body	IDA Inferred from Direct Assay more info
part_of nuclear telomere cap complex	IBA Inferred from Biological aspect of Ancestor more info
part_of nuclear telomere cap complex	IDA Inferred from Direct Assay more info	PubMed
part_of nuclear telomere cap complex	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed
part_of shelterin complex	IDA Inferred from Direct Assay more info	PubMed
part_of shelterin complex	IPI Inferred from Physical Interaction more info	PubMed
part_of shelterin complex	TAS Traceable Author Statement more info	PubMed
colocalizes_with spindle	IDA Inferred from Direct Assay more info	PubMed
located_in spindle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: telomeric repeat-binding factor 1

Names: NIMA-interacting protein 2; TTAGGG repeat-binding factor 1; telomeric protein Pin2/TRF1; telomeric repeat binding factor (NIMA-interacting) 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029121.1 RefSeqGene

Range

5003..44262

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001410928.1 → NP_001397857.1 telomeric repeat-binding factor 1 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).

Source sequence(s)

AC022893

Consensus CDS

CCDS94314.1

UniProtKB/TrEMBL

A0A7I2YQE7

Related

ENSP00000503453.1, ENST00000678860.1
NM_001413364.1 → NP_001400293.1 telomeric repeat-binding factor 1 isoform 4

Status: REVIEWED

Source sequence(s)

AC022893
NM_001413365.1 → NP_001400294.1 telomeric repeat-binding factor 1 isoform 5

Status: REVIEWED

Source sequence(s)

AC022893
NM_001413366.1 → NP_001400295.1 telomeric repeat-binding factor 1 isoform 6

Status: REVIEWED

Source sequence(s)

AC022893
NM_001413367.1 → NP_001400296.1 telomeric repeat-binding factor 1 isoform 7

Status: REVIEWED

Source sequence(s)

AC022893
NM_001413368.1 → NP_001400297.1 telomeric repeat-binding factor 1 isoform 8

Status: REVIEWED

Source sequence(s)

AC022893
NM_001413369.1 → NP_001400298.1 telomeric repeat-binding factor 1 isoform 9

Status: REVIEWED

Source sequence(s)

AC022893
NM_001413370.1 → NP_001400299.1 telomeric repeat-binding factor 1 isoform 10

Status: REVIEWED

Source sequence(s)

AC022893
NM_001413371.1 → NP_001400300.1 telomeric repeat-binding factor 1 isoform 11

Status: REVIEWED

Source sequence(s)

AC022893

UniProtKB/TrEMBL

A0A7I2V5T5

Related

ENSP00000504760.1, ENST00000679115.1
NM_001413372.1 → NP_001400301.1 telomeric repeat-binding factor 1 isoform 12

Status: REVIEWED

Source sequence(s)

AC022893
NM_001413373.1 → NP_001400302.1 telomeric repeat-binding factor 1 isoform 13

Status: REVIEWED

Source sequence(s)

AC022893
NM_001413374.1 → NP_001400303.1 telomeric repeat-binding factor 1 isoform 14

Status: REVIEWED

Source sequence(s)

AC022893
NM_003218.4 → NP_003209.2 telomeric repeat-binding factor 1 isoform 2

See identical proteins and their annotated locations for NP_003209.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.

Source sequence(s)

AC022893, AI218408, BC029378, BF056993, CX788828, DA658766

Consensus CDS

CCDS6210.1

UniProtKB/TrEMBL

A8K914

Related

ENSP00000276602.6, ENST00000276602.10

Conserved Domains (2) summary

cd11660
Location:361 → 409

SANT_TRF; Telomere repeat binding factor-like DNA-binding domains of the SANT/myb-like family

cd00280
Location:76 → 264

TRFH; Telomeric Repeat binding Factor or TTAGGG Repeat binding Factor, central (dimerization) domain Homology; TRFH. Telomeres are protein/DNA complexes that make up the physical ends of eukaryotic linear chromosomes and are essential for chromosome stability, ...
NM_017489.3 → NP_059523.2 telomeric repeat-binding factor 1 isoform 1

See identical proteins and their annotated locations for NP_059523.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform 1.

Source sequence(s)

AC022893, AI218408, BF056993, CX788828, DA658766, U40705

Consensus CDS

CCDS6211.1

UniProtKB/Swiss-Prot

A7XP29, P54274, Q15553, Q8NHT6, Q93029

UniProtKB/TrEMBL

A8K914

Related

ENSP00000276603.5, ENST00000276603.10

Conserved Domains (3) summary

smart00717
Location:380 → 429

SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains

cd11660
Location:381 → 429

SANT_TRF; Telomere repeat binding factor-like DNA-binding domains of the SANT/myb-like family

cd00280
Location:76 → 264

TRFH; Telomeric Repeat binding Factor or TTAGGG Repeat binding Factor, central (dimerization) domain Homology; TRFH. Telomeres are protein/DNA complexes that make up the physical ends of eukaryotic linear chromosomes and are essential for chromosome stability, ...

RNA

NR_182138.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC022893

Related

ENST00000676483.1
NR_182139.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC022893
NR_182140.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC022893

Related

ENST00000678997.1
NR_182141.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC022893