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

    Gene ID: 79415, updated on 12-Aug-2022

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CYBC1 in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (82442586..82450752, complement)
    110 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 uncharacterized LOC124904091 Neighboring gene hexosaminidase D Neighboring gene HEXD intronic transcript 1 Neighboring gene NARF antisense RNA 2 Neighboring gene nuclear prelamin A recognition factor Neighboring gene tRNA-iMet (anticodon CAT) 1-8

    Genomic regions, transcripts, and products

    Expression

    • 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

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
     
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001033046.4NP_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
      Q96NR1, Q9BQA9
      UniProtKB/TrEMBL
      A0A024R8W9
      Related
      ENSP00000307765.5, ENST00000306645.10
      Conserved Domains (1) summary
      pfam15169
      Location:2183
      DUF4564; Domain of unknown function (DUF4564)
    2. NM_001100407.3NP_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
      Q96NR1, Q9BQA9
      UniProtKB/TrEMBL
      A0A024R8W9
      Related
      ENSP00000464080.1, ENST00000578919.6
      Conserved Domains (1) summary
      pfam15169
      Location:2183
      DUF4564; Domain of unknown function (DUF4564)
    3. NM_001100408.3NP_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:2169
      DUF4564; Domain of unknown function (DUF4564)
    4. NM_001193653.2NP_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
      Q96NR1, Q9BQA9
      UniProtKB/TrEMBL
      A0A024R8W9
      Related
      ENSP00000388909.2, ENST00000437807.6
      Conserved Domains (1) summary
      pfam15169
      Location:2183
      DUF4564; Domain of unknown function (DUF4564)
    5. NM_001193654.2NP_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
      Q96NR1, Q9BQA9
      UniProtKB/TrEMBL
      A0A024R8W9
      Related
      ENSP00000463846.1, ENST00000585064.5
      Conserved Domains (1) summary
      pfam15169
      Location:2183
      DUF4564; Domain of unknown function (DUF4564)
    6. NM_001193655.2NP_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
      Q96NR1, Q9BQA9
      UniProtKB/TrEMBL
      A0A024R8W9
      Related
      ENSP00000463228.1, ENST00000577732.5
      Conserved Domains (1) summary
      pfam15169
      Location:2183
      DUF4564; Domain of unknown function (DUF4564)
    7. NM_001193657.2NP_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
      Q96NR1, Q9BQA9
      UniProtKB/TrEMBL
      A0A024R8W9
      Related
      ENSP00000463215.2, ENST00000577696.6
      Conserved Domains (1) summary
      pfam15169
      Location:2183
      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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

    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_047436742.1XP_047292698.1  cytochrome b-245 chaperone 1 isoform X2

      Related
      ENSP00000513956.1, ENST00000698820.1
    2. XM_047436741.1XP_047292697.1  cytochrome b-245 chaperone 1 isoform X2

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

      UniProtKB/Swiss-Prot
      Q96NR1
      UniProtKB/TrEMBL
      A0A024R8W9
      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)

    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.