Terb1 telomere repeat binding bouquet formation protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Terb1provided by MGI
Official Full Name: telomere repeat binding bouquet formation protein 1provided by MGI
Primary source: MGI:MGI:2443187
See related: Ensembl:ENSMUSG00000052616 AllianceGenome:MGI:2443187
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Ccdc79; 4930532D21Rik
Summary: Involved in homologous chromosome pairing at meiosis and meiotic attachment of telomere to nuclear envelope. Acts upstream of or within double-strand break repair involved in meiotic recombination. Located in chromosome, telomeric region and nuclear inner membrane. Part of shelterin complex. Is expressed in several structures, including ileum; metanephros; and reproductive system. Human ortholog(s) of this gene implicated in spermatogenic failure 60. Orthologous to human TERB1 (telomere repeat binding bouquet formation protein 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in testis adult (RPKM 1.7), cortex adult (RPKM 0.2) and 6 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 D3; 8 53.04 cM

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (105173350..105236692, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (104446718..104509887, complement)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The TERB1-TERB2-MAJIN complex of mouse meiotic telomeres dates back to the common ancestor of metazoans.
Title: The TERB1-TERB2-MAJIN complex of mouse meiotic telomeres dates back to the common ancestor of metazoans.
The meiotic TERB1-TERB2-MAJIN complex tethers telomeres to the nuclear envelope
Title: The meiotic TERB1-TERB2-MAJIN complex tethers telomeres to the nuclear envelope.
T2B domain in TERB1 is essential for telomere and nuclear envelope attachment.
Title: Distinct TERB1 Domains Regulate Different Protein Interactions in Meiotic Telomere Movement.
loss of telomere structure mediated by the TERB1-TRF1 interaction significantly affects homologous pairing of the telomere-adjacent pseudoautosomal region (PAR) of the X and Y chromosomes in mouse spermatocytes.
Title: Telomeric TERB1-TRF1 interaction is crucial for male meiosis.
The coiled-coil-domain containing protein 79 (CCDC79) is a meiosis specific telomere-associated protein in mice.
Title: Mouse CCDC79 (TERB1) is a meiosis-specific telomere associated protein.
Transcripts highly enriched in ovary; gene identified as candidate female fertility factor.
Title: Genomewide discovery and classification of candidate ovarian fertility genes in the mouse.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2) 1 citation
Targeted (2)

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within double-strand break repair involved in meiotic recombination	IGI Inferred from Genetic Interaction more info	PubMed
involved_in homologous chromosome pairing at meiosis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within homologous chromosome pairing at meiosis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in homologous chromosome pairing at meiosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in meiotic attachment of telomere to nuclear envelope	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within meiotic attachment of telomere to nuclear envelope	IGI Inferred from Genetic Interaction more info	PubMed
involved_in meiotic attachment of telomere to nuclear envelope	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in meiotic attachment of telomere to nuclear envelope	TAS Traceable Author Statement more info	PubMed
involved_in meiotic telomere clustering	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear inner membrane	IDA Inferred from Direct Assay more info	PubMed
part_of shelterin complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: telomere repeats-binding bouquet formation protein 1

Names: coiled-coil domain containing 79; coiled-coil domain-containing protein 79

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.

mRNA and Protein(s)

NM_180958.3 → NP_851289.2 telomere repeats-binding bouquet formation protein 1

See identical proteins and their annotated locations for NP_851289.2

Status: VALIDATED

Source sequence(s)

AC130543, AK029754

Consensus CDS

CCDS22580.1

UniProtKB/Swiss-Prot

A1L2Z9, E9QPF2, Q14CI1, Q8C0N5, Q8C0V1

Related

ENSMUSP00000067324.2, ENSMUST00000064576.8

Conserved Domains (2) summary

cd11658
Location:715 → 760

SANT_DMAP1_like; SANT/myb-like domain of Human Dna Methyltransferase 1 Associated Protein 1-like

sd00043
Location:55 → 86

ARM; armadillo repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000074.7 Reference GRCm39 C57BL/6J

Range

105173350..105236692 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036154095.1 → XP_036009988.1 telomere repeats-binding bouquet formation protein 1 isoform X2

UniProtKB/TrEMBL

U6C3P6

Conserved Domains (2) summary

cd11658
Location:714 → 759

SANT_DMAP1_like; SANT/myb-like domain of Human Dna Methyltransferase 1 Associated Protein 1-like

sd00043
Location:55 → 86

ARM; armadillo repeat [structural motif]
XM_017312856.2 → XP_017168345.1 telomere repeats-binding bouquet formation protein 1 isoform X1

UniProtKB/Swiss-Prot

A1L2Z9, E9QPF2, Q14CI1, Q8C0N5, Q8C0V1

Conserved Domains (2) summary

cd11658
Location:715 → 760

SANT_DMAP1_like; SANT/myb-like domain of Human Dna Methyltransferase 1 Associated Protein 1-like

sd00043
Location:55 → 86

ARM; armadillo repeat [structural motif]
XM_011248404.3 → XP_011246706.1 telomere repeats-binding bouquet formation protein 1 isoform X4

Conserved Domains (1) summary

cd11658
Location:672 → 717

SANT_DMAP1_like; SANT/myb-like domain of Human Dna Methyltransferase 1 Associated Protein 1-like
XM_011248405.3 → XP_011246707.1 telomere repeats-binding bouquet formation protein 1 isoform X5

Conserved Domains (2) summary

cd11658
Location:671 → 716

SANT_DMAP1_like; SANT/myb-like domain of Human Dna Methyltransferase 1 Associated Protein 1-like

sd00043
Location:51 → 88

ARM; armadillo repeat [structural motif]
XM_006531094.4 → XP_006531157.1 telomere repeats-binding bouquet formation protein 1 isoform X1

See identical proteins and their annotated locations for XP_006531157.1

UniProtKB/Swiss-Prot

A1L2Z9, E9QPF2, Q14CI1, Q8C0N5, Q8C0V1

Conserved Domains (2) summary

cd11658
Location:715 → 760

SANT_DMAP1_like; SANT/myb-like domain of Human Dna Methyltransferase 1 Associated Protein 1-like

sd00043
Location:55 → 86

ARM; armadillo repeat [structural motif]
XM_036154096.1 → XP_036009989.1 telomere repeats-binding bouquet formation protein 1 isoform X3

Conserved Domains (2) summary

cd11658
Location:704 → 749

SANT_DMAP1_like; SANT/myb-like domain of Human Dna Methyltransferase 1 Associated Protein 1-like

sd00043
Location:44 → 75

ARM; armadillo repeat [structural motif]
XM_030243609.1 → XP_030099469.1 telomere repeats-binding bouquet formation protein 1 isoform X9

Conserved Domains (1) summary

cd11658
Location:342 → 387

SANT_DMAP1_like; SANT/myb-like domain of Human Dna Methyltransferase 1 Associated Protein 1-like
XM_006531102.5 → XP_006531165.1 telomere repeats-binding bouquet formation protein 1 isoform X8

Conserved Domains (1) summary

cd11658
Location:343 → 388

SANT_DMAP1_like; SANT/myb-like domain of Human Dna Methyltransferase 1 Associated Protein 1-like
XM_036154097.1 → XP_036009990.1 telomere repeats-binding bouquet formation protein 1 isoform X6

Conserved Domains (1) summary

sd00043
Location:55 → 86

ARM; armadillo repeat [structural motif]
XM_036154098.1 → XP_036009991.1 telomere repeats-binding bouquet formation protein 1 isoform X7

Conserved Domains (1) summary

sd00043
Location:55 → 86

ARM; armadillo repeat [structural motif]