Aliases for CYBC1 Gene

Aliases for CYBC1 Gene

  • Cytochrome B-245 Chaperone 1 2 3 4 5
  • Essential For Reactive Oxygen Species Protein 3 4
  • C17orf62 3 4
  • Eros 3 4
  • Chromosome 17 Open Reading Frame 62 2
  • Uncharacterized Protein C17orf62 3
  • EROS 4

External Ids for CYBC1 Gene

Previous HGNC Symbols for CYBC1 Gene

  • C17orf62

Summaries for CYBC1 Gene

GeneCards Summary for CYBC1 Gene

CYBC1 (Cytochrome B-245 Chaperone 1) is a Protein Coding gene. Diseases associated with CYBC1 include Chronic Granulomatous Disease.

UniProtKB/Swiss-Prot Summary for CYBC1 Gene

  • Necessary for a stable expression of the CYBA and CYBB subunits of the cytochrome b-245 heterodimer. Controls the phagocyte respiratory burst and is essential for innate immunity.

Additional gene information for CYBC1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CYBC1 Gene

Genomics for CYBC1 Gene

GeneHancer (GH) Regulatory Elements for CYBC1 Gene

Promoters and enhancers for CYBC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CYBC1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CYBC1

Genomic Locations for CYBC1 Gene

Genomic Locations for CYBC1 Gene
chr17:82,442,586-82,450,831
(GRCh38/hg38)
Size:
8,246 bases
Orientation:
Minus strand
chr17:80,400,462-80,408,707
(GRCh37/hg19)
Size:
8,246 bases
Orientation:
Minus strand

Genomic View for CYBC1 Gene

Genes around CYBC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYBC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYBC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYBC1 Gene

Proteins for CYBC1 Gene

  • Protein details for CYBC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BQA9-CYBC1_HUMAN
    Recommended name:
    Cytochrome b-245 chaperone 1
    Protein Accession:
    Q9BQA9
    Secondary Accessions:
    • E1B6X3
    • Q96NR1

    Protein attributes for CYBC1 Gene

    Size:
    187 amino acids
    Molecular mass:
    20774 Da
    Quaternary structure:
    • Interacts with CYBB; CYBC1 may act as a chaperone stabilizing Cytochrome b-245 heterodimer.
    SequenceCaution:
    • Sequence=BAB70818.1; Type=Miscellaneous discrepancy; Note=Wrong choice of frame.; Evidence={ECO:0000305};

    Alternative splice isoforms for CYBC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CYBC1 Gene

Post-translational modifications for CYBC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CYBC1 Gene

Domains & Families for CYBC1 Gene

Gene Families for CYBC1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CYBC1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CYBC1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ31780 fis, clone NT2RI2008221, weakly similar to CORNIFIN B (Q969P4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BQA9

UniProtKB/Swiss-Prot:

CYBC1_HUMAN :
  • Belongs to the CYBC1 family.
Family:
  • Belongs to the CYBC1 family.
genes like me logo Genes that share domains with CYBC1: view

Function for CYBC1 Gene

Molecular function for CYBC1 Gene

UniProtKB/Swiss-Prot Function:
Necessary for a stable expression of the CYBA and CYBB subunits of the cytochrome b-245 heterodimer. Controls the phagocyte respiratory burst and is essential for innate immunity.
UniProtKB/Swiss-Prot Induction:
In macrophages, expression is induced after treatment with IFNG or a combination of IFNG and Salmonella Tiphimurium.

Phenotypes From GWAS Catalog for CYBC1 Gene

Gene Ontology (GO) - Molecular Function for CYBC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20195357
genes like me logo Genes that share ontologies with CYBC1: view
genes like me logo Genes that share phenotypes with CYBC1: view

Human Phenotype Ontology for CYBC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CYBC1 Gene

MGI Knock Outs for CYBC1:
  • Cybc1 Cybc1<tm1a(KOMP)Wtsi>

Clone Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for CYBC1 Gene

Localization for CYBC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYBC1 Gene

Endoplasmic reticulum membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYBC1 gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 3
plasma membrane 2
nucleus 1
golgi apparatus 1
cytosol 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CYBC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA,IDA 28351984
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CYBC1: view

Pathways & Interactions for CYBC1 Gene

PathCards logo

SuperPathways for CYBC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CYBC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045087 innate immune response ISS --
GO:0045728 respiratory burst after phagocytosis ISS --
genes like me logo Genes that share ontologies with CYBC1: view

No data available for Pathways by source and SIGNOR curated interactions for CYBC1 Gene

Drugs & Compounds for CYBC1 Gene

No Compound Related Data Available

Transcripts for CYBC1 Gene

mRNA/cDNA for CYBC1 Gene

7 REFSEQ mRNAs :
28 NCBI additional mRNA sequence :
40 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYBC1 Gene

No ASD Table

Relevant External Links for CYBC1 Gene

GeneLoc Exon Structure for
CYBC1

Expression for CYBC1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CYBC1

mRNA Expression by UniProt/SwissProt for CYBC1 Gene:

Q9BQA9-CYBC1_HUMAN
Tissue specificity: Highly expressed in macrophages, neutrophils and monocytes.

Evidence on tissue expression from TISSUES for CYBC1 Gene

  • Nervous system(4.9)
  • Liver(4.2)
  • Lung(2.8)
  • Lymph node(2)

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CYBC1 Gene

Orthologs for CYBC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CYBC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C17H17orf62 30
  • 100 (n)
cow
(Bos Taurus)
Mammalia C17orf62 31
  • 91 (a)
OneToOne
C19H17orf62 30
  • 87.7 (n)
dog
(Canis familiaris)
Mammalia C17orf62 31
  • 88 (a)
OneToOne
LOC608239 30
  • 87.52 (n)
mouse
(Mus musculus)
Mammalia BC017643 31 30
  • 86.99 (n)
OneToOne
Cybc1 17
rat
(Rattus norvegicus)
Mammalia LOC619574 30
  • 86.45 (n)
oppossum
(Monodelphis domestica)
Mammalia C17orf62 31
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C17orf62 31
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves C18H17ORF62 30
  • 71.09 (n)
C17orf62 31
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C17orf62 31
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c17orf62 30
  • 67.77 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:91940 30
  • 62.04 (n)
C12H17orf62 (1 of 2) 31
  • 54 (a)
OneToMany
C12H17orf62 (2 of 2) 31
  • 53 (a)
OneToMany
Species where no ortholog for CYBC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CYBC1 Gene

ENSEMBL:
Gene Tree for CYBC1 (if available)
TreeFam:
Gene Tree for CYBC1 (if available)

Paralogs for CYBC1 Gene

No data available for Paralogs for CYBC1 Gene

Variants for CYBC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CYBC1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs1555621634 Uncertain Significance: not provided 82,444,516(-) A/ATG FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for CYBC1 Gene

Structural Variations from Database of Genomic Variants (DGV) for CYBC1 Gene

Variant ID Type Subtype PubMed ID
esv21913 CNV gain+loss 19812545
esv2716503 CNV deletion 23290073
esv2762577 CNV gain+loss 21179565
esv3641424 CNV gain 21293372
esv3641425 CNV loss 21293372
nsv1062980 CNV gain 25217958
nsv1067160 CNV loss 25217958
nsv1067194 CNV gain 25217958
nsv1160502 CNV deletion 26073780
nsv428351 CNV gain 18775914
nsv469561 CNV loss 16826518
nsv833574 CNV gain 17160897

Variation tolerance for CYBC1 Gene

Residual Variation Intolerance Score: 87.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.81; 47.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CYBC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYBC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYBC1 Gene

Disorders for CYBC1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CYBC1 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
chronic granulomatous disease
  • granulomatous disease, chronic, x-linked
- elite association - COSMIC cancer census association via MalaCards
Search CYBC1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CYBC1

genes like me logo Genes that share disorders with CYBC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CYBC1 Gene

Publications for CYBC1 Gene

  1. Eros is a novel transmembrane protein that controls the phagocyte respiratory burst and is essential for innate immunity. (PMID: 28351984) Thomas DC … Smith KG (The Journal of experimental medicine 2017) 2 3 4 54
  2. EROS/CYBC1 mutations: Decreased NADPH oxidase function and chronic granulomatous disease. (PMID: 30312704) Thomas DC … Smith KGC (The Journal of allergy and clinical immunology 2019) 2 3 54
  3. A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease. (PMID: 30361506) Arnadottir GA … Stefansson K (Nature communications 2018) 2 3 54
  4. [Study on the mechanism of C17orf62 induced cell death]. (PMID: 21503106) Deng X … Shi TP (Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 2011) 2 3 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for CYBC1 Gene

Sources for CYBC1 Gene