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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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