Aliases for TERB1 Gene

Aliases for TERB1 Gene

  • Telomere Repeat Binding Bouquet Formation Protein 1 2 3 5
  • Telomere Repeats-Binding Bouquet Formation Protein 1 3 4
  • Coiled-Coil Domain-Containing Protein 79 3 4
  • CCDC79 3 4
  • Coiled-Coil Domain Containing 79 2

External Ids for TERB1 Gene

Previous HGNC Symbols for TERB1 Gene

  • CCDC79

Summaries for TERB1 Gene

GeneCards Summary for TERB1 Gene

TERB1 (Telomere Repeat Binding Bouquet Formation Protein 1) is a Protein Coding gene.

UniProtKB/Swiss-Prot Summary for TERB1 Gene

  • Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis. Component of the MAJIN-TERB1-TERB2 complex, which promotes telomere cap exchange by mediating attachment of telomeric DNA to the inner nuclear membrane and replacement of the protective cap of telomeric chromosomes: in early meiosis, the MAJIN-TERB1-TERB2 complex associates with telomeric DNA and the shelterin/telosome complex. During prophase, the complex matures and promotes release of the shelterin/telosome complex from telomeric DNA. In the MAJIN-TERB1-TERB2 complex, TERB1 probably mediates association with the shelterin/telosome complex via interaction with TERF1, promoting priming telomeric DNA attachment'. Promotes telomere association with the nuclear envelope and deposition of the SUN-KASH/LINC complex. Also recruits cohesin to telomeres to develop structural rigidity.

Additional gene information for TERB1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TERB1 Gene

Genomics for TERB1 Gene

GeneHancer (GH) Regulatory Elements for TERB1 Gene

Promoters and enhancers for TERB1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TERB1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TERB1

Genomic Locations for TERB1 Gene

Genomic Locations for TERB1 Gene
chr16:66,754,411-66,801,620
(GRCh38/hg38)
Size:
47,210 bases
Orientation:
Minus strand
chr16:66,788,879-66,835,523
(GRCh37/hg19)
Size:
46,645 bases
Orientation:
Minus strand

Genomic View for TERB1 Gene

Genes around TERB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TERB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TERB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TERB1 Gene

Proteins for TERB1 Gene

  • Protein details for TERB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NA31-TERB1_HUMAN
    Recommended name:
    Telomere repeats-binding bouquet formation protein 1
    Protein Accession:
    Q8NA31
    Secondary Accessions:
    • A0AUW1

    Protein attributes for TERB1 Gene

    Size:
    727 amino acids
    Molecular mass:
    83064 Da
    Quaternary structure:
    • Component of the MAJIN-TERB1-TERB2 complex, composed of MAJIN, TERB1 and TERB2. Interacts with TERF1, STAG3 and SUN1. Interacts (via Myb-like domain) with the cohesin complex; probably mediated via interaction with STAG3.

    Three dimensional structures from OCA and Proteopedia for TERB1 Gene

    Alternative splice isoforms for TERB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TERB1 Gene

Post-translational modifications for TERB1 Gene

  • Phosphorylated by CDK. Phosphorylation by CDK takes place in late prophase when the cap exchange is prominent. is important for the stabilization of telomere attachment but dispenable for the cap exchange.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TERB1 Gene

Domains & Families for TERB1 Gene

Gene Families for TERB1 Gene

Protein Domains for TERB1 Gene

Suggested Antigen Peptide Sequences for TERB1 Gene

GenScript: Design optimal peptide antigens:
  • Coiled-coil domain-containing protein 79 (CCD79_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NA31

UniProtKB/Swiss-Prot:

TERB1_HUMAN :
  • Belongs to the TERB1 family.
Family:
  • Belongs to the TERB1 family.
genes like me logo Genes that share domains with TERB1: view

Function for TERB1 Gene

Molecular function for TERB1 Gene

UniProtKB/Swiss-Prot Function:
Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis. Component of the MAJIN-TERB1-TERB2 complex, which promotes telomere cap exchange by mediating attachment of telomeric DNA to the inner nuclear membrane and replacement of the protective cap of telomeric chromosomes: in early meiosis, the MAJIN-TERB1-TERB2 complex associates with telomeric DNA and the shelterin/telosome complex. During prophase, the complex matures and promotes release of the shelterin/telosome complex from telomeric DNA. In the MAJIN-TERB1-TERB2 complex, TERB1 probably mediates association with the shelterin/telosome complex via interaction with TERF1, promoting priming telomeric DNA attachment'. Promotes telomere association with the nuclear envelope and deposition of the SUN-KASH/LINC complex. Also recruits cohesin to telomeres to develop structural rigidity.

Phenotypes From GWAS Catalog for TERB1 Gene

Gene Ontology (GO) - Molecular Function for TERB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with TERB1: view
genes like me logo Genes that share phenotypes with TERB1: view

Animal Models for TERB1 Gene

MGI Knock Outs for TERB1:
  • Terb1 Terb1<tm1b(KOMP)Mbp>
  • Terb1 Terb1<tm1a(KOMP)Mbp>

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for TERB1 Gene

Localization for TERB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TERB1 Gene

Chromosome, telomere. Nucleus inner membrane. Note=Localizes to telomeres during meiotic prophase. In leptotene spermatocytes, localizes to telomeres that localize to the nucleus inner membrane. {ECO:0000250 UniProtKB:Q8C0V1}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TERB1 gene
Compartment Confidence
nucleus 5
cytoskeleton 1
cytosol 1

Gene Ontology (GO) - Cellular Components for TERB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region ISS --
GO:0000784 nuclear chromosome, telomeric region IEA,ISS --
GO:0005623 cell IEA --
GO:0005634 nucleus IEA --
GO:0005637 nuclear inner membrane ISS --
genes like me logo Genes that share ontologies with TERB1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TERB1 Gene

Pathways & Interactions for TERB1 Gene

PathCards logo

SuperPathways for TERB1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TERB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007129 synapsis IEA,ISS --
GO:0045141 meiotic telomere clustering IEA,ISS --
GO:0051321 meiotic cell cycle IEA --
GO:0070197 meiotic attachment of telomere to nuclear envelope ISS --
genes like me logo Genes that share ontologies with TERB1: view

No data available for Pathways by source and SIGNOR curated interactions for TERB1 Gene

Drugs & Compounds for TERB1 Gene

No Compound Related Data Available

Transcripts for TERB1 Gene

mRNA/cDNA for TERB1 Gene

2 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TERB1 Gene

No ASD Table

Relevant External Links for TERB1 Gene

GeneLoc Exon Structure for
TERB1

Expression for TERB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TERB1

genes like me logo Genes that share expression patterns with TERB1: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for TERB1 Gene

Orthologs for TERB1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TERB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC79 31 30
  • 99.4 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CCDC79 31 30
  • 90.71 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC79 31 30
  • 90.66 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc79 31 30
  • 82.8 (n)
OneToOne
Terb1 17
rat
(Rattus norvegicus)
Mammalia Ccdc79 30
  • 81.9 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC79 31
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 50 (a)
OneToMany
-- 31
  • 48 (a)
OneToMany
-- 31
  • 47 (a)
OneToMany
-- 31
  • 47 (a)
OneToMany
-- 31
  • 47 (a)
OneToMany
-- 31
  • 46 (a)
OneToMany
-- 31
  • 46 (a)
OneToMany
-- 31
  • 45 (a)
OneToMany
-- 31
  • 44 (a)
OneToMany
-- 31
  • 43 (a)
OneToMany
-- 31
  • 42 (a)
OneToMany
-- 31
  • 42 (a)
OneToMany
-- 31
  • 39 (a)
OneToMany
-- 31
  • 39 (a)
OneToMany
-- 31
  • 37 (a)
OneToMany
-- 31
  • 31 (a)
OneToMany
chicken
(Gallus gallus)
Aves CCDC79 31 30
  • 65.44 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC79 31
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc79 30
  • 57.74 (n)
zebrafish
(Danio rerio)
Actinopterygii ccdc79 31 30
  • 51.48 (n)
OneToOne
Species where no ortholog for TERB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TERB1 Gene

ENSEMBL:
Gene Tree for TERB1 (if available)
TreeFam:
Gene Tree for TERB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TERB1: view image

Paralogs for TERB1 Gene

No data available for Paralogs for TERB1 Gene

Variants for TERB1 Gene

Additional dbSNP identifiers (rs#s) for TERB1 Gene

Structural Variations from Database of Genomic Variants (DGV) for TERB1 Gene

Variant ID Type Subtype PubMed ID
esv1025546 CNV deletion 17803354
esv1727322 CNV deletion 17803354
esv1974003 CNV deletion 18987734
esv2579855 CNV deletion 19546169
esv2714645 CNV deletion 23290073
esv3553594 CNV deletion 23714750
esv3571387 CNV gain 25503493
esv3571398 CNV gain 25503493
esv8216 CNV loss 19470904
nsv103310 CNV deletion 16902084
nsv1116154 CNV deletion 24896259
nsv1123061 CNV deletion 24896259
nsv1134559 CNV deletion 24896259
nsv958839 CNV deletion 24416366

Variation tolerance for TERB1 Gene

Gene Damage Index Score: 7.44; 81.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TERB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TERB1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TERB1 Gene

Disorders for TERB1 Gene

Additional Disease Information for TERB1

No disorders were found for TERB1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TERB1 Gene

Publications for TERB1 Gene

  1. The TRF1-binding protein TERB1 promotes chromosome movement and telomere rigidity in meiosis. (PMID: 24413433) Shibuya H … Watanabe Y (Nature cell biology 2014) 2 3 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. The meiotic TERB1-TERB2-MAJIN complex tethers telomeres to the nuclear envelope. (PMID: 30718482) Wang Y … Lei M (Nature communications 2019) 3 54
  4. Structural basis of meiotic telomere attachment to the nuclear envelope by MAJIN-TERB2-TERB1. (PMID: 30559341) Dunce JM … Davies OR (Nature communications 2018) 3 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 54

Products for TERB1 Gene

Sources for TERB1 Gene