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

Gene ID: 79415, updated on 7-Apr-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 chronic granulomatous disease. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
17q25.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (82442586..82450752, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (83311510..83319676, complement)
105.20220307 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: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 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 (30) 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)

Genotypes

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_2023_10

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 info@ncbi.nlm.nih.gov 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

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