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    CYBC1 cytochrome b-245 chaperone 1 [ Homo sapiens (human) ]

    Gene ID: 79415, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CYBC1provided by HGNC
    Official Full Name
    cytochrome b-245 chaperone 1provided by HGNC
    Primary source
    HGNC:HGNC:28672
    See related
    Ensembl:ENSG00000178927 MIM:618334; AllianceGenome:HGNC:28672
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CGD5; Eros; C17orf62
    Summary
    Involved in innate immune response and respiratory burst after phagocytosis. Located in endoplasmic reticulum. Implicated in autosomal recessive chronic granulomatous disease 5. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 26.0), lymph node (RPKM 25.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CYBC1 in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (82442586..82450752, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (83311510..83319676, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (80400462..80408628, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904090 Neighboring gene 2-oxoglutarate and iron dependent oxygenase domain containing 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:80357274-80357880 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13007 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9211 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:80381859-80382694 Neighboring gene uncharacterized LOC124904091 Neighboring gene hexosaminidase D Neighboring gene HEXD intronic transcript 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:80396877-80397376 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:80397599-80398386 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13008 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9212 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13009 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9213 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13010 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:80416539-80417371 Neighboring gene NARF antisense RNA 2 Neighboring gene nuclear prelamin A recognition factor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13011 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:80452439-80452776 Neighboring gene tRNA-iMet (anticodon CAT) 1-8

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. HSCT in two brothers with CGD arising from mutations in CYBC1 corrects the defect in neutrophil function. Perez-Heras I, et al. Clin Immunol, 2021 Aug. PMID 34280579
    2. A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease. Arnadottir GA, et al. Nat Commun, 2018 Oct 25. PMID 30361506, Free PMC Article
    3. Functional Expression of the P2X7 ATP Receptor Requires Eros. Ryoden Y, et al. J Immunol, 2020 Feb 1. PMID 31862710
    4. 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
    5. [Study on the mechanism of C17orf62 induced cell death]. Deng X, et al. Beijing Da Xue Xue Bao Yi Xue Ban, 2011 Apr 18. PMID 21503106

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. HSCT in two brothers with CGD arising from mutations in CYBC1 corrects the defect in neutrophil function.
      Title: HSCT in two brothers with CGD arising from mutations in CYBC1 corrects the defect in neutrophil function.
    2. these results indicated that Eros acts as a chaperone not only for NADPH oxidase, but also for P2X7, and contributes to the innate immune reaction
      Title: Functional Expression of the P2X7 ATP Receptor Requires Eros.
    3. this study shows that the function of EROS is fully conserved between human and mouse, and that homozygous mutations in EROS underlie a novel sixth cause of chronic granulomatous disease
      Title: EROS/CYBC1 mutations: Decreased NADPH oxidase function and chronic granulomatous disease.
    4. CYBC1 deficiency results in chronic granulomatous disease characterized by colitis and a distinct profile of infections indicative of macrophage dysfunction.
      Title: A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Granulomatous disease, chronic, autosomal recessive, 5
    MedGen: C5394542 OMIM: 618935 GeneReviews: Chronic Granulomatous Disease
    		not available

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies protein quantitative trait loci (pQTLs).
    EBI GWAS Catalog
    Genome-wide Association Study Identifies Five Susceptibility Loci for Follicular Lymphoma outside the HLA Region.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC4368, FLJ00406, FLJ90469

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in innate immune response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in innate immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in respiratory burst after phagocytosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in respiratory burst after phagocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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

    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_001033046.4 → NP_001028218.1  cytochrome b-245 chaperone 1 isoform a

      See identical proteins and their annotated locations for NP_001028218.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 4, 5, 6, and 7 all encode isoform a.
      Source sequence(s)
      BC004171, BU734211, DA342707
      Consensus CDS
      CCDS32776.1
      UniProtKB/Swiss-Prot
      E1B6X3, Q96NR1, Q9BQA9
      Related
      ENSP00000307765.5, ENST00000306645.10
      Conserved Domains (1) summary
      pfam15169
      Location:2 → 183
      DUF4564; Domain of unknown function (DUF4564)

    2. NM_001100407.3 → NP_001093877.1  cytochrome b-245 chaperone 1 isoform a

      See identical proteins and their annotated locations for NP_001093877.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest protein (isoform a). Variants 1, 4, 5, 6, and 7 all encode isoform a.
      Source sequence(s)
      BC004171, BM801484, BU734211
      Consensus CDS
      CCDS32776.1
      UniProtKB/Swiss-Prot
      E1B6X3, Q96NR1, Q9BQA9
      Related
      ENSP00000464080.1, ENST00000578919.6
      Conserved Domains (1) summary
      pfam15169
      Location:2 → 183
      DUF4564; Domain of unknown function (DUF4564)

    3. NM_001100408.3 → NP_001093878.1  cytochrome b-245 chaperone 1 isoform b

      See identical proteins and their annotated locations for NP_001093878.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon, compared to variant 1. The resulting protein (isoform b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AC132938, BU734211
      Consensus CDS
      CCDS45817.1
      UniProtKB/Swiss-Prot
      Q9BQA9
      Related
      ENSP00000401626.2, ENST00000434650.6
      Conserved Domains (1) summary
      pfam15169
      Location:2 → 169
      DUF4564; Domain of unknown function (DUF4564)

    4. NM_001193653.2 → NP_001180582.1  cytochrome b-245 chaperone 1 isoform a

      See identical proteins and their annotated locations for NP_001180582.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses a different splice site in the 5' UTR, compared to variant 1. Variants 1, 4, 5, 6, and 7 all encode isoform a.
      Source sequence(s)
      AK074950, AK309201, BU734211
      Consensus CDS
      CCDS32776.1
      UniProtKB/Swiss-Prot
      E1B6X3, Q96NR1, Q9BQA9
      Related
      ENSP00000388909.2, ENST00000437807.6
      Conserved Domains (1) summary
      pfam15169
      Location:2 → 183
      DUF4564; Domain of unknown function (DUF4564)

    5. NM_001193654.2 → NP_001180583.1  cytochrome b-245 chaperone 1 isoform a

      See identical proteins and their annotated locations for NP_001180583.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses a different splice site and lacks an alternate segment in the 5' UTR, compared to variant 1. Variants 1, 4, 5, 6, and 7 all encode isoform a.
      Source sequence(s)
      AC132938, BG716477, BU734211
      Consensus CDS
      CCDS32776.1
      UniProtKB/Swiss-Prot
      E1B6X3, Q96NR1, Q9BQA9
      Related
      ENSP00000463846.1, ENST00000585064.5
      Conserved Domains (1) summary
      pfam15169
      Location:2 → 183
      DUF4564; Domain of unknown function (DUF4564)

    6. NM_001193655.2 → NP_001180584.1  cytochrome b-245 chaperone 1 isoform a

      See identical proteins and their annotated locations for NP_001180584.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) contains a different segment for its 5' UTR, compared to variant 1. Variants 1, 4, 5, 6, and 7 all encode isoform a.
      Source sequence(s)
      AC132938, BG338078, BU734211
      Consensus CDS
      CCDS32776.1
      UniProtKB/Swiss-Prot
      E1B6X3, Q96NR1, Q9BQA9
      Related
      ENSP00000463228.1, ENST00000577732.5
      Conserved Domains (1) summary
      pfam15169
      Location:2 → 183
      DUF4564; Domain of unknown function (DUF4564)

    7. NM_001193657.2 → NP_001180586.1  cytochrome b-245 chaperone 1 isoform a

      See identical proteins and their annotated locations for NP_001180586.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) uses a different splice site in the 5' UTR, compared to variant 1. Variants 1, 4, 5, 6, and 7 all encode isoform a.
      Source sequence(s)
      AC132938, BU734211, DA663677, DA969007
      Consensus CDS
      CCDS32776.1
      UniProtKB/Swiss-Prot
      E1B6X3, Q96NR1, Q9BQA9
      Related
      ENSP00000463215.2, ENST00000577696.6
      Conserved Domains (1) summary
      pfam15169
      Location:2 → 183
      DUF4564; Domain of unknown function (DUF4564)

    RNA

    1. NR_036514.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) lacks two alternate exons, compared to variant 1. This variant is represented as non-coding because the use of the translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC132938, AK056342, AK309201, BU734211
      Related
      ENST00000584024.5

    2. NR_036516.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) lacks two alternate exons, compared to variant 1. This variant is represented as non-coding because the translational start codon, as used in variant 1, is not present and uncertainty about the protein-coding capacity of the transcript exists.
      Source sequence(s)
      AC132938, BM147030, BU734211, CN260096, DB113745
      Related
      ENST00000584408.6

    3. NR_036517.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10) lacks three alternate exons, compared to variant 1. This variant is represented as non-coding because the translational start codon, as used in variant 1, is not present and uncertainty about the protein-coding capacity of the transcript exists.
      Source sequence(s)
      AC132938, BU734211, DA008508
      Related
      ENST00000581196.6

    4. NR_036518.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (11) lacks four alternate exons, compared to variant 1. This variant is represented as non-coding because the translational start codon, as used in variant 1, is not present and uncertainty about the protein-coding capacity of the transcript exists.
      Source sequence(s)
      AK027743, BU734211
      Related
      ENST00000342572.12

    5. NR_036519.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (12) contains only the first exon and a different 3' terminal exon, compared to variant 1. This variant is represented as non-coding because it lacks the coding region found in variant 1.
      Source sequence(s)
      BX451530, DA436899, DA453235
      Related
      ENST00000584791.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      82442586..82450752 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436742.1 → XP_047292698.1  cytochrome b-245 chaperone 1 isoform X2

      Related
      ENSP00000513956.1, ENST00000698820.1

    2. XM_047436741.1 → XP_047292697.1  cytochrome b-245 chaperone 1 isoform X2

    3. XM_011523606.4 → XP_011521908.2  cytochrome b-245 chaperone 1 isoform X1

      UniProtKB/Swiss-Prot
      E1B6X3, Q96NR1, Q9BQA9
      Related
      ENSP00000462529.1, ENST00000585080.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      83311510..83319676 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317207.1 → XP_054173182.1  cytochrome b-245 chaperone 1 isoform X2

    2. XM_054317206.1 → XP_054173181.1  cytochrome b-245 chaperone 1 isoform X2

    3. XM_054317205.1 → XP_054173180.1  cytochrome b-245 chaperone 1 isoform X1

      UniProtKB/Swiss-Prot
      E1B6X3, Q96NR1, Q9BQA9

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_024510.2: Suppressed sequence

      Description
      NM_024510.2: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BQA9.1 GenPept UniProtKB/Swiss-Prot:Q9BQA9

    Gene LinkOut

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

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