IHO1 (interactor of HORMAD1 1)

Gene

• Entrez ID: 339834
• Gene name: Interactor of HORMAD1 1
• Gene symbol: IHO1
• Synonyms (NCBI Gene): CCDC36, CT74, LELA1
• Chromosome: 3
• Chromosome location: 3p21.31

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000794	Component	Condensed nuclear chromosome	IBA
GO:0000794	Component	Condensed nuclear chromosome	IEA
GO:0000794	Component	Condensed nuclear chromosome	ISS
GO:0005515	Function	Protein binding	IPI	21516116, 24722188, 25416956, 25910212, 26871637, 27107012, 29892012, 31515488, 31704776, 32296183, 32814053
GO:0005694	Component	Chromosome	IEA
GO:0006310	Process	DNA recombination	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:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0042138	Process	Meiotic DNA double-strand break formation	IBA
GO:0042138	Process	Meiotic DNA double-strand break formation	IEA
GO:0042138	Process	Meiotic DNA double-strand break formation	ISS
GO:0048477	Process	Oogenesis	IEA
GO:0048477	Process	Oogenesis	ISS
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0060629	Process	Regulation of homologous chromosome segregation	IEA
GO:0060629	Process	Regulation of homologous chromosome segregation	ISS

Other IDs

• MIM: 619190
• HGNC: 27945
• e!Ensembl: ENSG00000173421

Protein

• UniProt ID: Q8IYA8
• Protein name: Interactor of HORMAD1 protein 1 (Cancer/testis antigen 74) (CT74) (Coiled-coil domain-containing protein 36)
• Protein function: Required for DNA double-strand breaks (DSBs) formation in unsynapsed regions during meiotic recombination. Probably acts by forming a complex with MEI4 and REC114, which activates DSBs formation in unsynapsed regions, an essential step to ensure
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15771	IHO1	19 → 591	Interactor of HORMAD1 protein 1	Family

• Sequence:

  MNFNVWNIKEMLSIPSGSGNKKSSNWNNNQNDYSSLSDSQFLFGSQFCPENSETLSAPLD
  FGAHLRHSKQSQQNYLEGEPSIFTKYQTKPQLFGGDIKDGGLFPPPLSVGKSKGLLEQFE
  EKKKRAKDKCDSETLYNFVSNVRESILRLQTSVEKSEDHLSSRSQSILDSLETVAKTLQE
  TIQAQNDLVFEAVQDKGNMEQAILEMKKRFEARQGEFIEMKSNLKHLEVLVAQQSQEFQQ
  LCEQLGQLNVPSVLAELKRLISVPPVKDSASQTSPPLAQSLNLTRQEKYTSEKPVLWQAQ
  ALPAAWNPGMGSLQPGEFDVWGEGAKNDDLQEEAALPAFGSHERNRHVKDKVVQTNCKNW
  AVTKTGAKNHGSSVPGHKIPSDRDLVSQGASQLTSLEINFSTSIKNACQKYQAQSMFLCD
  PREHLVIKQKDGTVEMRGKDKKQQPRKAHRAHRGRLIASKQKQIPIQTCKFNSKYQSPQP
  AISVPQSPFLGQQEPRAQPLHLQCPRSPRKPVCPILGGTVMPNKTVRAVQGRLLQLSRCS
  SQDNWLLSSSSQGDHQMSWFSDLNLGCSETPLCKEAGKNLLYDLGFDSSDDDGF

• Sequence length: 594

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations