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Cybc1 cytochrome b 245 chaperone 1 [ Mus musculus (house mouse) ]

Gene ID: 217370, updated on 21-Apr-2024

Summary

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Official Symbol
Cybc1provided by MGI
Official Full Name
cytochrome b 245 chaperone 1provided by MGI
Primary source
MGI:MGI:2384959
See related
Ensembl:ENSMUSG00000039294 AllianceGenome:MGI:2384959
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
Involved in innate immune response and respiratory burst after phagocytosis. Predicted to be located in endoplasmic reticulum. Human ortholog(s) of this gene implicated in chronic granulomatous disease. Orthologous to human CYBC1 (cytochrome b-245 chaperone 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thymus adult (RPKM 22.7), spleen adult (RPKM 22.5) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
11 E2; 11 85.1 cM
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (121113414..121120135, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (121222588..121229309, complement)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene bromodomain containing 4 pseudogene Neighboring gene 2-oxoglutarate and iron-dependent oxygenase domain containing 3 Neighboring gene STARR-positive B cell enhancer ABC_E7117 Neighboring gene hexosaminidase D Neighboring gene STARR-positive B cell enhancer ABC_E5315 Neighboring gene STARR-seq mESC enhancer starr_31378 Neighboring gene STARR-positive B cell enhancer ABC_E8883 Neighboring gene nuclear prelamin A recognition factor Neighboring gene forkhead box K2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. EROS is a selective chaperone regulating the phagocyte NADPH oxidase and purinergic signalling. Randzavola LO, et al. Elife, 2022 Nov 24. PMID 36421765, Free PMC Article
  2. Functional Expression of the P2X7 ATP Receptor Requires Eros. Ryoden Y, et al. J Immunol, 2020 Feb 1. PMID 31862710
  3. EROS/CYBC1 mutations: Decreased NADPH oxidase function and chronic granulomatous disease. Thomas DC, et al. J Allergy Clin Immunol, 2019 Feb. PMID 30312704, Free PMC Article
  4. Eros is a novel transmembrane protein that controls the phagocyte respiratory burst and is essential for innate immunity. Thomas DC, et al. J Exp Med, 2017 Apr 3. PMID 28351984, Free PMC Article
  5. Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen. Liakath-Ali K, et al. Nat Commun, 2014 Apr 11. PMID 24721909, Free PMC Article

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (1) 
  • Endonuclease-mediated (2) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC28978, MGC37062, MGC37382

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within immune system process IEA
Inferred from Electronic Annotation
more info
  
involved_in innate immune response IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in innate immune response ISO
Inferred from Sequence Orthology
more info
  
involved_in respiratory burst after phagocytosis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in respiratory burst after phagocytosis ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
cytochrome b-245 chaperone 1
Names
eros
essential for reactive oxygen species protein
uncharacterized protein C17orf62 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001252548.1 → NP_001239477.1  cytochrome b-245 chaperone 1 isoform 1

    See identical proteins and their annotated locations for NP_001239477.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks a segment in the 5' UTR, compared to variant 1. Variants 1-3 encode the same isoform (1).
    Source sequence(s)
    BC017643, BU059230, BY202710
    Consensus CDS
    CCDS25771.1
    UniProtKB/Swiss-Prot
    A2AN24, A2AN25, Q3TYS2, Q8VD13
    UniProtKB/TrEMBL
    A0A0A0MQK0
    Conserved Domains (1) summary
    pfam15169
    Location:2 → 183
    DUF4564; Domain of unknown function (DUF4564)

  2. NM_001252549.1 → NP_001239478.1  cytochrome b-245 chaperone 1 isoform 1

    See identical proteins and their annotated locations for NP_001239478.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks a segment in the 5' UTR, compared to variant 1. Variants 1-3 encode the same isoform (1).
    Source sequence(s)
    BC017643, BY202710, BY244471
    Consensus CDS
    CCDS25771.1
    UniProtKB/Swiss-Prot
    A2AN24, A2AN25, Q3TYS2, Q8VD13
    UniProtKB/TrEMBL
    A0A0A0MQK0
    Related
    ENSMUSP00000101721.2, ENSMUST00000106115.8
    Conserved Domains (1) summary
    pfam15169
    Location:2 → 183
    DUF4564; Domain of unknown function (DUF4564)

  3. NM_001252550.1 → NP_001239479.1  cytochrome b-245 chaperone 1 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an exon in the coding region, which results in a frameshift, compared to variant 1. The resulting isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    BC017643, BY202710, CN716786
    UniProtKB/TrEMBL
    E9Q3W5
    Related
    ENSMUSP00000127260.2, ENSMUST00000169393.8
    Conserved Domains (1) summary
    pfam15169
    Location:2 → 42
    DUF4564; Domain of unknown function (DUF4564)

  4. NM_001254735.1 → NP_001241664.1  cytochrome b-245 chaperone 1 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and 5' coding region, and uses an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct and longer N-terminus, compared to isoform 1.
    Source sequence(s)
    BC017643, CD806773
    UniProtKB/Swiss-Prot
    Q3TYS2
    Conserved Domains (1) summary
    pfam15169
    Location:47 → 228
    DUF4564; Domain of unknown function (DUF4564)

  5. NM_144832.2 → NP_659081.1  cytochrome b-245 chaperone 1 isoform 1

    See identical proteins and their annotated locations for NP_659081.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1. Variants 1-3 encode the same isoform (1).
    Source sequence(s)
    BC017643, BY202710
    Consensus CDS
    CCDS25771.1
    UniProtKB/Swiss-Prot
    A2AN24, A2AN25, Q3TYS2, Q8VD13
    UniProtKB/TrEMBL
    A0A0A0MQK0
    Related
    ENSMUSP00000042277.8, ENSMUST00000038709.14
    Conserved Domains (1) summary
    pfam15169
    Location:2 → 183
    DUF4564; Domain of unknown function (DUF4564)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    121113414..121120135 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q3TYS2.2 GenPept UniProtKB/Swiss-Prot:Q3TYS2

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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