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

Gene ID: 320022, updated on 9-Dec-2024

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
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Genomic context

See Terb1 in Genome Data Viewer
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_000074.7Genomic Context describing neighboring genes Neighboring gene CKLF-like MARVEL transmembrane domain containing 4 Neighboring gene dynein, cytoplasmic 1 light intermediate chain 2 Neighboring gene STARR-positive B cell enhancer ABC_E11745 Neighboring gene predicted gene, 22148 Neighboring gene NEDD8 activating enzyme E1 subunit 1 Neighboring gene STARR-positive B cell enhancer ABC_E6676 Neighboring gene carbonic anhydrase 7

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2)  1 citation
  • Targeted (2) 

General gene information

Markers

Gene Ontology Provided by MGI

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

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)

  1. NM_180958.3NP_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:715760
    SANT_DMAP1_like; SANT/myb-like domain of Human Dna Methyltransferase 1 Associated Protein 1-like
    sd00043
    Location:5586
    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

  1. NC_000074.7 Reference GRCm39 C57BL/6J

    Range
    105173350..105236692 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    U6C3P6
    Conserved Domains (2) summary
    cd11658
    Location:714759
    SANT_DMAP1_like; SANT/myb-like domain of Human Dna Methyltransferase 1 Associated Protein 1-like
    sd00043
    Location:5586
    ARM; armadillo repeat [structural motif]
  2. XM_017312856.2XP_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:715760
    SANT_DMAP1_like; SANT/myb-like domain of Human Dna Methyltransferase 1 Associated Protein 1-like
    sd00043
    Location:5586
    ARM; armadillo repeat [structural motif]
  3. XM_011248404.3XP_011246706.1  telomere repeats-binding bouquet formation protein 1 isoform X4

    Conserved Domains (1) summary
    cd11658
    Location:672717
    SANT_DMAP1_like; SANT/myb-like domain of Human Dna Methyltransferase 1 Associated Protein 1-like
  4. XM_011248405.3XP_011246707.1  telomere repeats-binding bouquet formation protein 1 isoform X5

    Conserved Domains (2) summary
    cd11658
    Location:671716
    SANT_DMAP1_like; SANT/myb-like domain of Human Dna Methyltransferase 1 Associated Protein 1-like
    sd00043
    Location:5188
    ARM; armadillo repeat [structural motif]
  5. XM_006531094.4XP_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:715760
    SANT_DMAP1_like; SANT/myb-like domain of Human Dna Methyltransferase 1 Associated Protein 1-like
    sd00043
    Location:5586
    ARM; armadillo repeat [structural motif]
  6. XM_036154096.1XP_036009989.1  telomere repeats-binding bouquet formation protein 1 isoform X3

    Conserved Domains (2) summary
    cd11658
    Location:704749
    SANT_DMAP1_like; SANT/myb-like domain of Human Dna Methyltransferase 1 Associated Protein 1-like
    sd00043
    Location:4475
    ARM; armadillo repeat [structural motif]
  7. XM_030243609.1XP_030099469.1  telomere repeats-binding bouquet formation protein 1 isoform X9

    Conserved Domains (1) summary
    cd11658
    Location:342387
    SANT_DMAP1_like; SANT/myb-like domain of Human Dna Methyltransferase 1 Associated Protein 1-like
  8. XM_006531102.5XP_006531165.1  telomere repeats-binding bouquet formation protein 1 isoform X8

    Conserved Domains (1) summary
    cd11658
    Location:343388
    SANT_DMAP1_like; SANT/myb-like domain of Human Dna Methyltransferase 1 Associated Protein 1-like
  9. XM_036154097.1XP_036009990.1  telomere repeats-binding bouquet formation protein 1 isoform X6

    Conserved Domains (1) summary
    sd00043
    Location:5586
    ARM; armadillo repeat [structural motif]
  10. XM_036154098.1XP_036009991.1  telomere repeats-binding bouquet formation protein 1 isoform X7

    Conserved Domains (1) summary
    sd00043
    Location:5586
    ARM; armadillo repeat [structural motif]