CYBC1 (cytochrome b-245 chaperone 1)

Gene

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	20195357, 25416956, 28351984, 32296183
GO:0005783	Component	Endoplasmic reticulum	IDA	28351984
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0016021	Component	Integral component of membrane	IEA
GO:0045087	Process	Innate immune response	ISS
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

• Sequence:

  MYLQVETRTSSRLHLKRAPGIRSWSLLVGILSIGLAAAYYSGDSLGWKLFYVTGCLFVAV
  QNLEDWEEAIFDKSTGKVVLKTFSLYKKLLTLFRAGHDQVVVLLHDVRDVSVEEEKVRYF
  GKGYMVVLRLATGFSHPLTQSAVMGHRSDVEAIAKLITSFLELHCLESPTELSQSSDSEA
  GDPASQS

• Sequence length: 187

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Chronic obstructive pulmonary disease	Chronic Obstructive Airway Disease	rs2227956, rs1008438, rs1043618, rs562047, rs1061581, rs2763979, rs6457452, rs13147758, rs1828591, rs13118928
Granulomatous disease	Chronic granulomatous disease	rs796065030, rs374402066, rs796065031, rs796065032, rs119103276, rs796065033, rs119103274, rs4029402, rs1563003964, rs119103270, rs1307080411, rs119103271, rs119103272, rs119103273, rs104894513, rs104894514, rs104894515, rs1567609091, rs104894511, rs28941476, rs1907271302, rs119103269, rs137854585, rs137854588, rs137854590, rs137854591, rs137854596, rs2146821097, rs137854592, rs1602175016, rs137854593, rs137854594, rs387906485, rs2146810847, rs1569478551, rs387906486, rs151344498, rs151344497, rs876657377, rs387906808, rs193922445, rs193922446, rs193922448, rs193922449, rs179363892, rs179363894, rs151344484, rs151344470, rs151344473, rs151344454, rs151344481, rs151344491, rs151344482, rs151344462, rs151344466, rs151344467, rs137854508, rs193922450, rs869025585, rs886039335, rs886039337, rs886041194, rs886041192, rs990043411, rs1057517730, rs1064794299, rs1453468510, rs28445840, rs145360423, rs1131691828, rs1556473078, rs1556464554, rs1556470775, rs1556464116, rs1556473119, rs1556469197, rs1556471620, rs1558098982, rs1290169467, rs1558092897, rs777621636, rs1569479943, rs1569480333, rs1567608830, rs1567608853, rs1439134665, rs1569480031, rs1569479953, rs766745748, rs782800778, rs1584370623, rs779809359, rs1472146831, rs1572151178, rs1352931329, rs1597374562, rs1602183698, rs200129367, rs1602186299, rs771926427, rs1602173465, rs1200078508, rs1602184316, rs1602183244, rs535897564, rs151344455, rs180899069, rs1929244686, rs1929497736, rs1929531349, rs1352107832, rs1929527785, rs1929245964, rs1939893821, rs763678131	30361506

Unknown
Disease name	Disease term	dbSNP ID	References
B-cell neoplasm	Mature B-Cell Neoplasm		25279986
Eczema	Eczema
Gingivitis	Gingivitis
Inflammatory abnormality of the eye	Inflammatory abnormality of the eye
Malabsorption syndrome	Malabsorption Syndrome
Mediastinal lymphadenopathy	Mediastinal lymphadenopathy
Otitis media	Otitis Media	rs601338, rs1047781, rs1800028
Sinusitis	Sinusitis