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

Gene ID: 283847, updated on 17-Jun-2024

Summary

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 be located in chromosome, telomeric region and nuclear inner membrane. Predicted to colocalize with shelterin complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 3.3) See more
Orthologs
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Try the new Transcript table

Genomic context

See TERB1 in Genome Data Viewer
Location:
16q22.1
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (66754640..66802025, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (72548930..72596319, complement)
105.20220307 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

Expression

  • Project title: 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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_001136505.2NP_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:674718
    SANT_DMAP1_like; SANT/myb-like domain of Human Dna Methyltransferase 1 Associated Protein 1-like

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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_047433947.1XP_047289903.1  telomere repeats-binding bouquet formation protein 1 isoform X1

    UniProtKB/Swiss-Prot
    A0AUW1, Q8NA31
    Conserved Domains (1) summary
    cd11658
    Location:674718
    SANT_DMAP1_like; SANT/myb-like domain of Human Dna Methyltransferase 1 Associated Protein 1-like
  2. XM_011523009.3XP_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:674718
    SANT_DMAP1_like; SANT/myb-like domain of Human Dna Methyltransferase 1 Associated Protein 1-like
  3. XM_047433950.1XP_047289906.1  telomere repeats-binding bouquet formation protein 1 isoform X2

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

    UniProtKB/Swiss-Prot
    A0AUW1, Q8NA31
    Conserved Domains (1) summary
    cd11658
    Location:674718
    SANT_DMAP1_like; SANT/myb-like domain of Human Dna Methyltransferase 1 Associated Protein 1-like
  5. XM_047433948.1XP_047289904.1  telomere repeats-binding bouquet formation protein 1 isoform X1

    UniProtKB/Swiss-Prot
    A0AUW1, Q8NA31
    Conserved Domains (1) summary
    cd11658
    Location:674718
    SANT_DMAP1_like; SANT/myb-like domain of Human Dna Methyltransferase 1 Associated Protein 1-like
  6. XM_047433949.1XP_047289905.1  telomere repeats-binding bouquet formation protein 1 isoform X2

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

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

  9. XM_011523005.3XP_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:674718
    SANT_DMAP1_like; SANT/myb-like domain of Human Dna Methyltransferase 1 Associated Protein 1-like
  10. XM_011523008.3XP_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:674718
    SANT_DMAP1_like; SANT/myb-like domain of Human Dna Methyltransferase 1 Associated Protein 1-like
  11. XM_011523012.3XP_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:660707
    SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
    cd11658
    Location:663707
    SANT_DMAP1_like; SANT/myb-like domain of Human Dna Methyltransferase 1 Associated Protein 1-like
  12. XM_047433953.1XP_047289909.1  telomere repeats-binding bouquet formation protein 1 isoform X5

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

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

    Related
    ENSP00000464579.1, ENST00000313294.7
  15. XM_047433957.1XP_047289913.1  telomere repeats-binding bouquet formation protein 1 isoform X8

    UniProtKB/TrEMBL
    A0A669KAY0
    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_054380085.1XP_054236060.1  telomere repeats-binding bouquet formation protein 1 isoform X1

    UniProtKB/Swiss-Prot
    A0AUW1, Q8NA31
  2. XM_054380083.1XP_054236058.1  telomere repeats-binding bouquet formation protein 1 isoform X1

    UniProtKB/Swiss-Prot
    A0AUW1, Q8NA31
  3. XM_054380090.1XP_054236065.1  telomere repeats-binding bouquet formation protein 1 isoform X2

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

    UniProtKB/Swiss-Prot
    A0AUW1, Q8NA31
  5. XM_054380087.1XP_054236062.1  telomere repeats-binding bouquet formation protein 1 isoform X1

    UniProtKB/Swiss-Prot
    A0AUW1, Q8NA31
  6. XM_054380089.1XP_054236064.1  telomere repeats-binding bouquet formation protein 1 isoform X2

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

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

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

    UniProtKB/Swiss-Prot
    A0AUW1, Q8NA31
  10. XM_054380088.1XP_054236063.1  telomere repeats-binding bouquet formation protein 1 isoform X1

    UniProtKB/Swiss-Prot
    A0AUW1, Q8NA31
  11. XM_054380091.1XP_054236066.1  telomere repeats-binding bouquet formation protein 1 isoform X2

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

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

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

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

    UniProtKB/TrEMBL
    A0A669KAY0

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.