CYBC1 (cytochrome b-245 chaperone 1)

Gene

• Entrez ID: 79415
• Gene name: Cytochrome b-245 chaperone 1
• Gene symbol: CYBC1
• Synonyms (NCBI Gene): C17orf62, CGD5, Eros
• Chromosome: 17
• Chromosome location: 17q25.3

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002376	Process	Immune system process	IEA
GO:0005515	Function	Protein binding	IPI	20195357, 25416956, 28351984, 32296183
GO:0005783	Component	Endoplasmic reticulum	IDA	28351984
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0045087	Process	Innate immune response	IMP	30361506
GO:0045087	Process	Innate immune response	ISS
GO:0045728	Process	Respiratory burst after phagocytosis	IEA
GO:0045728	Process	Respiratory burst after phagocytosis	IMP	30361506
GO:0045728	Process	Respiratory burst after phagocytosis	ISS

Other IDs

• MIM: 618334
• HGNC: 28672
• e!Ensembl: ENSG00000178927

Protein

• UniProt ID: Q9BQA9
• Protein name: Cytochrome b-245 chaperone 1 (Essential for reactive oxygen species protein) (Eros)
• Protein function: Functions as a chaperone necessary for a stable expression of the CYBA and CYBB subunits of the cytochrome b-245 heterodimer (PubMed:30361506). Controls the phagocyte respiratory burst and is essential for innate immunity (By similarity). {ECO:0
• PDB: 8KEI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15169	Cybc1_Eros	2 → 186	Cytochrome b-245 chaperone 1 / Eros	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in macrophages, neutrophils and monocytes. {ECO:0000269|PubMed:28351984}.
• Sequence:

  MYLQVETRTSSRLHLKRAPGIRSWSLLVGILSIGLAAAYYSGDSLGWKLFYVTGCLFVAV
  QNLEDWEEAIFDKSTGKVVLKTFSLYKKLLTLFRAGHDQVVVLLHDVRDVSVEEEKVRYF
  GKGYMVVLRLATGFSHPLTQSAVMGHRSDVEAIAKLITSFLELHCLESPTELSQSSDSEA
  GDPASQS

• Sequence length: 187

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
Granulomatous disease, chronic, autosomal recessive, 5	Pathogenic	rs778180128	RCV001200060	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CHRONIC GRANULOMATOUS DISEASE	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	29211967, 30575407		★☆☆☆☆ Found in Text Mining only
Chronic granulomatous disease	Granulomatous Disease	BEFREE	30361506		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic granulomatous disease	Granulomatous Disease	ORPHANET_DG	30361506		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic granulomatous disease	Granulomatous Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	30361506		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	30361506	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Granulomatous Disease Chronic	Granulomatous disease	Pubtator	30361506, 33746979	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory abnormality of the eye	Inflammatory abnormality of the eye	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	30361506	Associate	★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mature B-Cell Neoplasm	B-Cell Neoplasm	GWASCAT_DG	25279986		★☆☆☆☆ Found in Text Mining only
Mediastinal lymphadenopathy	Mediastinal lymphadenopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only