Protein detail
CYBC1
Cytochrome b-245 chaperone 1 (Essential for reactive oxygen species protein) (Eros)
Protein symbol CYBC1 | UniProt ID | EVMP score 0.50 |
Frequency 2 | Transmembrane count 1 | Protein classification Disease related genesHuman disease related genesPredicted intracellular proteinsPredicted membrane proteins |
EVMP score: annotation confidence score.
Extremely high >= 0.85High >= 0.70Medium >= 0.55Low >= 0.40
Basic Information
Protein Names
Cytochrome b-245 chaperone 1 (Essential for reactive oxygen species protein) (Eros)
Protein Class
Disease related genesHuman disease related genesPredicted intracellular proteinsPredicted membrane proteins
Protein Function
- Human disease related genes:Immune system diseases:Primary immunodeficiency
- Disease related genes
- Predicted intracellular proteins
Transmembrane
20..42; Helical
Transmembrane Count
1
Ensembl
Entrez Gene Symbol
Gene Synonym
C17orf62ErosFLJ90469MGC4368
Gene Description
Cytochrome b-245 chaperone 1
Chromosome
17
Position
82440912-82450829
Frequency
2
EVMP Score
0.50
Fluorescence & Localization
Cell SpecificChoroid plexus epithelial cells
Function & Pathway
Protein Function
- Human disease related genes:Immune system diseases:Primary immunodeficiency
- Disease related genes
- Predicted intracellular proteins
Molecular Function
Biological Process
Mediation Categories
Other mediation
Relations & Evidence
Enzyme-Mediated Modification
0 records.
Ligand-Receptor Signaling
12 records.
| Category | Parent | Database | Transmitter | Receiver | Secreted | Plasma Membrane (Transmembrane) | Plasma Membrane (Peripheral) |
|---|---|---|---|---|---|---|---|
| intracellular | intracellular | GO_Intercell | No | No | No | No | No |
| intracellular | intracellular | UniProt_location | No | No | No | No | No |
| intracellular | intracellular | OmniPath | No | No | No | No | No |
| transmembrane | transmembrane | UniProt_location | No | No | No | No | No |
| transmembrane | transmembrane | UniProt_topology | No | No | No | No | No |
| transmembrane | transmembrane | UniProt_keyword | No | No | No | No | No |
| transmembrane_predicted | transmembrane | OmniPath | No | No | No | No | No |
| transmembrane | transmembrane | TopDB | No | No | No | No | No |
| transmembrane | transmembrane | Ramilowski_location | No | No | No | No | No |
| transmembrane | transmembrane | OmniPath | No | No | No | No | No |
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Regulatory Interaction Network
0 records.
Protein Complex Composition
0 records.
Sequence, Structure & Domains
Sequences
Length
187
Mass
20,774
Sequence
MYLQVETRTSSRLHLKRAPGIRSWSLLVGILSIGLAAAYYSGDSLGWKLFYVTGCLFVAVQNLEDWEEAIFDKSTGKVVLKTFSLYKKLLTLFRAGHDQVVVLLHDVRDVSVEEEKVRYFGKGYMVVLRLATGFSHPLTQSAVMGHRSDVEAIAKLITSFLELHCLESPTELSQSSDSEAGDPASQS
Alternative Products
Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BQA9-1; Sequence=Displayed; Name=2; IsoId=Q9BQA9-2; Sequence=VSP_046335
Alternative Sequence
29..42; Missing (in isoform 2)
3D Structural Models
3D Structure
Electron microscopy (1)
Domain & Motif Annotations
Protein Families
CYBC1 family
Sequence Similarities
Belongs to the CYBC1 family.
Clinical Relevance
Disease Involvement
Chronic granulomatous diseaseDisease variant
Antibody