TERB1 (telomere repeat binding bouquet formation protein 1)

Gene

• Entrez ID: 283847
• Gene name: Telomere repeat binding bouquet formation protein 1
• Gene symbol: TERB1
• Synonyms (NCBI Gene): CCDC79, SPGF60
• Chromosome: 16
• Chromosome location: 16q22.1

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000781	Component	Chromosome, telomeric region	IEA
GO:0000781	Component	Chromosome, telomeric region	ISS
GO:0005515	Function	Protein binding	IPI	29083416
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IEA
GO:0005637	Component	Nuclear inner membrane	IEA
GO:0005637	Component	Nuclear inner membrane	ISS
GO:0005694	Component	Chromosome	IEA
GO:0007129	Process	Homologous chromosome pairing at meiosis	IBA
GO:0007129	Process	Homologous chromosome pairing at meiosis	IEA
GO:0007129	Process	Homologous chromosome pairing at meiosis	ISS
GO:0016020	Component	Membrane	IEA
GO:0045141	Process	Meiotic telomere clustering	IEA
GO:0045141	Process	Meiotic telomere clustering	ISS
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0070187	Component	Shelterin complex	IEA
GO:0070187	Component	Shelterin complex	ISS
GO:0070197	Process	Meiotic attachment of telomere to nuclear envelope	IBA
GO:0070197	Process	Meiotic attachment of telomere to nuclear envelope	IEA
GO:0070197	Process	Meiotic attachment of telomere to nuclear envelope	ISS
GO:1990918	Process	Double-strand break repair involved in meiotic recombination	IEA

Other IDs

• MIM: 617332
• HGNC: 26675
• e!Ensembl: ENSG00000249961

Protein

• UniProt ID: Q8NA31
• Protein name: Telomere repeats-binding bouquet formation protein 1 (Coiled-coil domain-containing protein 79)
• Protein function: Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis. Component of the MAJIN-TERB1-TERB2 complex, which promotes telomere cap excha
• PDB: 5WIR, 5XUP, 6J07
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00249	Myb_DNA-binding	671 → 719	Myb-like DNA-binding domain	Domain

• Sequence:

  MESEDTKKTQEMKTDLNLLLECLKYQMDNAFSQKEALVTIHSICQQNSNASVYFREIGGL
  MFVKNLAKSSEHSMVKEAALYTLGAIAEKNVYCQQTLCTSELFEDLTWFLSNDSNINLKR
  MSVYVILVLVSNNRTGQTLVRETGCITVLSRLFRTVISKHELDLSDKNVFQSYQLWSSVC
  STLCVCVNNPQNDENQMFCCSLFPHANEWLKNCTTPEIIRPICSFIGLTLANNTYVQKYF
  VSVGGLDVLSQVLMQLESDSHETLSSAKLAVVVTKTVDACIADNPTFGIVLSKYHIVSKL
  LALLLHESLDSGEKFSIMLTLGHCTEDCEENQYDLFKNNGLPLMIQALTESQNEELNKAA
  TFVLHNCKKITEKLSLSLGEYPFDENETQQLKDISVKENNLEEHWRKAKEILHRIEQLER
  EGNEEEIQRENYQDNISSMNISIQNTWKHLHADRIGRGSKAEDEDKSHSRQLQSYKSHGV
  MSKACTNDDQMKTPLKSANPVHACYRESEQNKTLYKAKSSCNQNLHEETTFEKNFVSQSS
  DHVFKHPVHIAKNIKQQLPVTDPFTLCSDIINKEVVSFLATPSCSEMLTYRCSGCIAVEK
  SLNSRNFSKLLHSCPYQCDRHKVIVEAEDRYKSELRKSLICNKKILLTPRRRQRLSNEST
  TPGGIKKRRIRKNFTEEEVNYLFNGVKKMGNHWNSILWSFPFQQGRKAVDLAHKYHKLTK
  HPTCAAS

• Sequence length: 727

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Azoospermia	Pathogenic	rs766256171	RCV001797580	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-obstructive azoospermia	Pathogenic	rs2145104416	RCV001648500	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spermatogenic failure 60	Pathogenic	rs2145104416, rs1308550551, rs963945421	RCV001788672 RCV001788842 RCV001788843	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR AZOOSPERMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Azoospermia	Azoospermia	Pubtator	33211200, 35172124	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Infertility	Infertility	Pubtator	38277113	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	38277113	Associate	★☆☆☆☆ Found in Text Mining only