Format

Send to:

Choose Destination

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

Gene ID: 79415, updated on 24-Nov-2020

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
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
Expression
Ubiquitous expression in spleen (RPKM 26.0), lymph node (RPKM 25.5) and 25 other tissues See more
Orthologs

Genomic context

See CYBC1 in Genome Data Viewer
Location:
17q25.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (82442586..82450821, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (80400462..80408707, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene 2-oxoglutarate and iron dependent oxygenase domain containing 3 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
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
GeneReviews: Not available
Autosomal recessive chronic granulomatous disease 5
MedGen: CN283260 OMIM: 618935 GeneReviews: Not available
not available
Genome-wide Association Study Identifies Five Susceptibility Loci for Follicular Lymphoma outside the HLA Region.
GeneReviews: Not available

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

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
    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
    Q9BQA9
    UniProtKB/TrEMBL
    A0A024R8W9
    Related
    ENSP00000464080.1, ENST00000578919.5
    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
    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
    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
    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
    Q9BQA9
    UniProtKB/TrEMBL
    A0A024R8W9
    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
  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
  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
    ENST00000585115.1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    82442586..82450821 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017025078.2XP_016880567.1  cytochrome b-245 chaperone 1 isoform X4

    UniProtKB/Swiss-Prot
    Q9BQA9
    Conserved Domains (1) summary
    pfam15169
    Location:2169
    DUF4564; Domain of unknown function (DUF4564)
  2. XM_017025074.2XP_016880563.1  cytochrome b-245 chaperone 1 isoform X3

    UniProtKB/Swiss-Prot
    Q9BQA9
    UniProtKB/TrEMBL
    A0A024R8W9
    Conserved Domains (1) summary
    pfam15169
    Location:2183
    DUF4564; Domain of unknown function (DUF4564)
  3. XM_017025076.1XP_016880565.1  cytochrome b-245 chaperone 1 isoform X3

    UniProtKB/Swiss-Prot
    Q9BQA9
    UniProtKB/TrEMBL
    A0A024R8W9
    Conserved Domains (1) summary
    pfam15169
    Location:2183
    DUF4564; Domain of unknown function (DUF4564)
  4. XM_017025077.1XP_016880566.1  cytochrome b-245 chaperone 1 isoform X3

    UniProtKB/Swiss-Prot
    Q9BQA9
    UniProtKB/TrEMBL
    A0A024R8W9
    Conserved Domains (1) summary
    pfam15169
    Location:2183
    DUF4564; Domain of unknown function (DUF4564)
  5. XM_017025073.2XP_016880562.1  cytochrome b-245 chaperone 1 isoform X2

    Conserved Domains (1) summary
    pfam15169
    Location:35202
    DUF4564; Domain of unknown function (DUF4564)
  6. XM_011523606.3XP_011521908.1  cytochrome b-245 chaperone 1 isoform X1

    Conserved Domains (1) summary
    pfam15169
    Location:35216
    DUF4564; Domain of unknown function (DUF4564)
  7. XM_006722293.3XP_006722356.1  cytochrome b-245 chaperone 1 isoform X4

    See identical proteins and their annotated locations for XP_006722356.1

    UniProtKB/Swiss-Prot
    Q9BQA9
    Related
    ENSP00000464633.1, ENST00000577436.5
    Conserved Domains (1) summary
    pfam15169
    Location:2169
    DUF4564; Domain of unknown function (DUF4564)
Support Center