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    TERB1 telomere repeat binding bouquet formation protein 1 [ Homo sapiens (human) ]

    Gene ID: 283847, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TERB1provided by HGNC
    Official Full Name
    telomere repeat binding bouquet formation protein 1provided by HGNC
    Primary source
    HGNC:HGNC:26675
    See related
    Ensembl:ENSG00000249961 MIM:617332; AllianceGenome:HGNC:26675
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CCDC79; SPGF60
    Summary
    Predicted to be involved in homologous chromosome pairing at meiosis and meiotic attachment of telomere to nuclear envelope. Predicted to act upstream of or within double-strand break repair involved in meiotic recombination. Predicted to be located in nuclear inner membrane and shelterin complex. Implicated in spermatogenic failure 60. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Restricted expression toward testis (RPKM 3.3) See more
    Orthologs
    mouse all
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    Genomic context

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    See TERB1 in Genome Data Viewer
    Location:
    16q22.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (66754640..66802025, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (72548930..72596319, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (66788543..66835487, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7561 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7562 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:66642903-66643714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:66653785-66654286 Neighboring gene CKLF like MARVEL transmembrane domain containing 4 Neighboring gene CKLF like MARVEL transmembrane domain containing 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:66677635-66677813 Neighboring gene Sharpr-MPRA regulatory region 8452 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:66708833-66709036 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:66710611-66711112 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:66725551-66726230 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:66726231-66726910 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:66726911-66727590 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:66729849-66730688 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7565 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7566 Neighboring gene dynein cytoplasmic 1 light intermediate chain 2 Neighboring gene MPRA-validated peak2616 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:66785153-66785868 Neighboring gene DYNC1LI2 divergent transcript Neighboring gene MPRA-validated peak2617 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7568 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:66864603-66865103 Neighboring gene NEDD8 activating enzyme E1 subunit 1 Neighboring gene uncharacterized LOC124903699 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:66878245-66878746 Neighboring gene carbonic anhydrase 7

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. A report of two homozygous TERB1 protein-truncating variants in two unrelated women with primary infertility. Yalcin Z, et al. J Assist Reprod Genet, 2024 Mar. PMID 38277113,
    2. Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia. Salas-Huetos A, et al. Hum Genet, 2021 Jan. PMID 33211200, Free PMC Article
    3. Structural basis of meiotic telomere attachment to the nuclear envelope by MAJIN-TERB2-TERB1. Dunce JM, et al. Nat Commun, 2018 Dec 17. PMID 30559341, Free PMC Article
    4. Telomeric TERB1-TRF1 interaction is crucial for male meiosis. Long J, et al. Nat Struct Mol Biol, 2017 Dec. PMID 29083416, Free PMC Article
    5. The TRF1-binding protein TERB1 promotes chromosome movement and telomere rigidity in meiosis. Shibuya H, et al. Nat Cell Biol, 2014 Feb. PMID 24413433

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A report of two homozygous TERB1 protein-truncating variants in two unrelated women with primary infertility.
      Title: A report of two homozygous TERB1 protein-truncating variants in two unrelated women with primary infertility.
    2. Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia.
      Title: Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia.
    3. 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.
    4. complementary structured illumination microscopy studies and biochemical findings reveal a telomere attachment mechanism in which MAJIN-TERB2-TERB1 recruits telomere-bound TRF1, which is then displaced during pachytene, allowing MAJIN-TERB2-TERB1 to bind telomeric DNA and form a mature attachment plate.
      Title: Structural basis of meiotic telomere attachment to the nuclear envelope by MAJIN-TERB2-TERB1.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Spermatogenic failure 60
    MedGen: C5562035 OMIM: 619646 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ35894

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in double-strand break repair involved in meiotic recombination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in homologous chromosome pairing at meiosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in homologous chromosome pairing at meiosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in meiotic attachment of telomere to nuclear envelope IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in meiotic attachment of telomere to nuclear envelope ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in meiotic telomere clustering ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in chromosome, telomeric region ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nuclear inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of shelterin complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    telomere repeats-binding bouquet formation protein 1
    Names
    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_001136505.2 → NP_001129977.1  telomere repeats-binding bouquet formation protein 1

      See identical proteins and their annotated locations for NP_001129977.1

      Status: VALIDATED

      Source sequence(s)
      AC044802
      UniProtKB/Swiss-Prot
      A0AUW1, Q8NA31
      Related
      ENSP00000463762.1, ENST00000433154.6
      Conserved Domains (1) summary
      cd11658
      Location:674 → 718
      SANT_DMAP1_like; SANT/myb-like domain of Human Dna Methyltransferase 1 Associated Protein 1-like

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      66754640..66802025 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047433947.1 → XP_047289903.1  telomere repeats-binding bouquet formation protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A0AUW1, Q8NA31
      Conserved Domains (1) summary
      cd11658
      Location:674 → 718
      SANT_DMAP1_like; SANT/myb-like domain of Human Dna Methyltransferase 1 Associated Protein 1-like

    2. XM_011523009.3 → XP_011521311.1  telomere repeats-binding bouquet formation protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011521311.1

      UniProtKB/Swiss-Prot
      A0AUW1, Q8NA31
      Related
      ENSP00000462883.1, ENST00000558713.6
      Conserved Domains (1) summary
      cd11658
      Location:674 → 718
      SANT_DMAP1_like; SANT/myb-like domain of Human Dna Methyltransferase 1 Associated Protein 1-like

    3. XM_047433950.1 → XP_047289906.1  telomere repeats-binding bouquet formation protein 1 isoform X2

    4. XM_047433946.1 → XP_047289902.1  telomere repeats-binding bouquet formation protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A0AUW1, Q8NA31
      Conserved Domains (1) summary
      cd11658
      Location:674 → 718
      SANT_DMAP1_like; SANT/myb-like domain of Human Dna Methyltransferase 1 Associated Protein 1-like

    5. XM_047433948.1 → XP_047289904.1  telomere repeats-binding bouquet formation protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A0AUW1, Q8NA31
      Conserved Domains (1) summary
      cd11658
      Location:674 → 718
      SANT_DMAP1_like; SANT/myb-like domain of Human Dna Methyltransferase 1 Associated Protein 1-like

    6. XM_047433949.1 → XP_047289905.1  telomere repeats-binding bouquet formation protein 1 isoform X2

    7. XM_047433956.1 → XP_047289912.1  telomere repeats-binding bouquet formation protein 1 isoform X7

    8. XM_047433951.1 → XP_047289907.1  telomere repeats-binding bouquet formation protein 1 isoform X3

    9. XM_011523005.3 → XP_011521307.1  telomere repeats-binding bouquet formation protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011521307.1

      UniProtKB/Swiss-Prot
      A0AUW1, Q8NA31
      Conserved Domains (1) summary
      cd11658
      Location:674 → 718
      SANT_DMAP1_like; SANT/myb-like domain of Human Dna Methyltransferase 1 Associated Protein 1-like

    10. XM_011523008.3 → XP_011521310.1  telomere repeats-binding bouquet formation protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011521310.1

      UniProtKB/Swiss-Prot
      A0AUW1, Q8NA31
      Conserved Domains (1) summary
      cd11658
      Location:674 → 718
      SANT_DMAP1_like; SANT/myb-like domain of Human Dna Methyltransferase 1 Associated Protein 1-like

    11. XM_011523012.3 → XP_011521314.1  telomere repeats-binding bouquet formation protein 1 isoform X2

      See identical proteins and their annotated locations for XP_011521314.1

      Conserved Domains (2) summary
      smart00717
      Location:660 → 707
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      cd11658
      Location:663 → 707
      SANT_DMAP1_like; SANT/myb-like domain of Human Dna Methyltransferase 1 Associated Protein 1-like

    12. XM_047433953.1 → XP_047289909.1  telomere repeats-binding bouquet formation protein 1 isoform X5

    13. XM_047433952.1 → XP_047289908.1  telomere repeats-binding bouquet formation protein 1 isoform X4

    14. XM_047433955.1 → XP_047289911.1  telomere repeats-binding bouquet formation protein 1 isoform X6

      Related
      ENSP00000464579.1, ENST00000313294.7

    15. XM_047433957.1 → XP_047289913.1  telomere repeats-binding bouquet formation protein 1 isoform X8

      Related
      ENSP00000500999.1, ENST00000673664.1

    RNA

    1. XR_007064867.1 RNA Sequence

    2. XR_007064868.1 RNA Sequence

      Related
      ENST00000561333.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      72548930..72596319 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054380085.1 → XP_054236060.1  telomere repeats-binding bouquet formation protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A0AUW1, Q8NA31

    2. XM_054380083.1 → XP_054236058.1  telomere repeats-binding bouquet formation protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A0AUW1, Q8NA31

    3. XM_054380090.1 → XP_054236065.1  telomere repeats-binding bouquet formation protein 1 isoform X2

    4. XM_054380084.1 → XP_054236059.1  telomere repeats-binding bouquet formation protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A0AUW1, Q8NA31

    5. XM_054380087.1 → XP_054236062.1  telomere repeats-binding bouquet formation protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A0AUW1, Q8NA31

    6. XM_054380089.1 → XP_054236064.1  telomere repeats-binding bouquet formation protein 1 isoform X2

    7. XM_054380096.1 → XP_054236071.1  telomere repeats-binding bouquet formation protein 1 isoform X7

    8. XM_054380092.1 → XP_054236067.1  telomere repeats-binding bouquet formation protein 1 isoform X3

    9. XM_054380086.1 → XP_054236061.1  telomere repeats-binding bouquet formation protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A0AUW1, Q8NA31

    10. XM_054380088.1 → XP_054236063.1  telomere repeats-binding bouquet formation protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A0AUW1, Q8NA31

    11. XM_054380091.1 → XP_054236066.1  telomere repeats-binding bouquet formation protein 1 isoform X2

    12. XM_054380094.1 → XP_054236069.1  telomere repeats-binding bouquet formation protein 1 isoform X5

    13. XM_054380093.1 → XP_054236068.1  telomere repeats-binding bouquet formation protein 1 isoform X4

    14. XM_054380095.1 → XP_054236070.1  telomere repeats-binding bouquet formation protein 1 isoform X6

    15. XM_054380097.1 → XP_054236072.1  telomere repeats-binding bouquet formation protein 1 isoform X8

    RNA

    1. XR_008489075.1 RNA Sequence

    2. XR_008489076.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_173616.1: Suppressed sequence

      Description
      NM_173616.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NA31.3 GenPept UniProtKB/Swiss-Prot:Q8NA31

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