CYBC1 (cytochrome b-245 chaperone 1)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79415
Gene name Gene Name - the full gene name approved by the HGNC.
Cytochrome b-245 chaperone 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CYBC1
Synonyms (NCBI Gene) Gene synonyms aliases
C17orf62, CGD5, Eros
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q25.3
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618334 28672 ENSG00000178927
Protein
Gene Gene ontology Other IDs Protein Associated diseases
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
Sequence length 187
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Follicular lymphoma Follicular lymphoma N/A N/A GWAS
Granulomatous disease granulomatous disease, chronic, autosomal recessive, 5 N/A N/A GenCC
Granulomatous Disease chronic granulomatous disease N/A N/A GenCC
Show/Hide Text Mining Associations (6)
Associations from Text Mining Disease 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