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

Gene ID: 283847, updated on 2-Nov-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, Nov 2024]
Expression
Restricted expression toward testis (RPKM 3.3) See more
Orthologs
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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)

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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