CYBC1 (cytochrome b-245 chaperone 1)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 79415
Gene name Cytochrome b-245 chaperone 1
Gene symbol CYBC1
Synonyms (NCBI Gene)
C17orf62CGD5Eros
Chromosome 17
Chromosome location 17q25.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (12)
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618334 28672 ENSG00000178927
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 187
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Granulomatous disease, chronic, autosomal recessive, 5 Pathogenic rs778180128 RCV001200060
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Likely benign rs370383989 RCV005930017
Show/Hide Text Mining Associations (6)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Colitis Associate 30361506
Granulomatous Disease Chronic Associate 30361506, 33746979
Immunologic Deficiency Syndromes Associate 30361506
Infections Associate 30361506
Inflammatory Bowel Diseases Associate 30361506
Macrophage Activation Syndrome Associate 30361506