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Aliases for CYBC1 Gene

Aliases for CYBC1 Gene

  • Cytochrome B-245 Chaperone 1 2 3
  • Chromosome 17 Open Reading Frame 62 2 5
  • C17orf62 3 5
  • Uncharacterized Protein C17orf62 3
  • Eros 3

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.

Additional gene information for CYBC1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYBC1 Gene

Genomics for CYBC1 Gene

GeneHancer (GH) Regulatory Elements for CYBC1 Gene

Promoters and enhancers for CYBC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J082448 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 663.8 +0.5 499 3.2 HDGF SMAD1 MLX ARID4B SIN3A IRF4 SLC30A9 POLR2B ZNF766 E2F8 CYBC1 OGFOD3 NARF ENSG00000262663 ENSG00000262652 NARF-IT1 ARL2BPP9 ENSG00000260563 FAAP100 TBCD
GH17J082291 Promoter/Enhancer 2.4 FANTOM5 Ensembl ENCODE dbSUPER 13.1 +152.2 152198 14.7 CLOCK MLX ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 CSNK1D ENSG00000260563 NARF-IT1 HGS ENSG00000262652 ARL2BPP9 ALYREF FAAP100 TEX19 DUS1L
GH17J082417 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 12.2 +31.7 31712 2.7 ARNT ARID4B SIN3A YY1 ZNF207 ZNF143 KLF13 SP3 CEBPZ SP5 HEXDC OGFOD3 ENSG00000201239 ALYREF NPLOC4 LOC105371942 CYBC1 FOXK2 TEX19 UTS2R
GH17J082456 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.3 -7.3 -7320 3.4 HDGF PKNOX1 FOXA2 SMAD1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 NARF LOC105371941 HGS LOC105371942 TBCD ALYREF FOXK2 GPS1 CYBC1 CCDC57
GH17J082518 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.1 -70.1 -70125 4.7 HDGF PKNOX1 CLOCK MLX ARNT ARID4B NEUROD1 SIN3A DMAP1 ZNF2 FOXK2 HGS ALYREF LOC105371942 DUS1L ENSG00000262652 ENSG00000260563 HEXDC FAAP100 ARL2BPP9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CYBC1 on UCSC Golden Path with GeneCards custom track

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)

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-CQ062_HUMAN
    Recommended name:
    Uncharacterized protein C17orf62
    Protein Accession:
    Q9BQA9
    Secondary Accessions:
    • E1B6X3
    • Q96NR1

    Protein attributes for CYBC1 Gene

    Size:
    187 amino acids
    Molecular mass:
    20774 Da
    Quaternary structure:
    No Data Available
    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

Graphical View of Domain Structure for InterPro Entry

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

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

Function for CYBC1 Gene

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

Animal Models for CYBC1 Gene

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

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CYBC1 Gene

Localization for CYBC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYBC1 Gene

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
plasma membrane 3
mitochondrion 3
golgi apparatus 2
nucleus 1
endoplasmic reticulum 1
cytosol 1

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: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

SuperPathways for CYBC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CYBC1 Gene

None

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

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
ECgene alternative splicing isoforms for
CYBC1

Expression for CYBC1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CYBC1 Gene:

CYBC1

Evidence on tissue expression from TISSUES for CYBC1 Gene

  • Nervous system(4.9)
  • Liver(4.2)
  • Lung(2.8)
  • Lymph node(2)
No Expression Related Data Available

Primer Products

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 , mRNA Expression by UniProt/SwissProt 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 33
  • 100 (n)
cow
(Bos Taurus)
Mammalia C17orf62 34
  • 91 (a)
OneToOne
C19H17orf62 33
  • 87.7 (n)
dog
(Canis familiaris)
Mammalia C17orf62 34
  • 88 (a)
OneToOne
LOC608239 33
  • 87.52 (n)
mouse
(Mus musculus)
Mammalia BC017643 34 33
  • 86.99 (n)
OneToOne
Cybc1 16
rat
(Rattus norvegicus)
Mammalia LOC619574 33
  • 86.45 (n)
oppossum
(Monodelphis domestica)
Mammalia C17orf62 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C17orf62 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves C18H17ORF62 33
  • 71.09 (n)
C17orf62 34
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C17orf62 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c17orf62 33
  • 67.77 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:91940 33
  • 62.04 (n)
C12H17orf62 (1 of 2) 34
  • 54 (a)
OneToMany
C12H17orf62 (2 of 2) 34
  • 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 from dbSNP and Humsavar for CYBC1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000002347 -- 82,445,773(-) G/A genic_downstream_transcript_variant, intron_variant
rs1000279644 -- 82,450,773(-) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, upstream_transcript_variant
rs1000799250 -- 82,451,669(-) G/C upstream_transcript_variant
rs1000962013 -- 82,451,747(-) A/C upstream_transcript_variant
rs1001074144 -- 82,446,543(-) C/T genic_downstream_transcript_variant, intron_variant

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

Additional Disease Information for CYBC1

No disorders were found for CYBC1 Gene.

No data available for MalaCards , 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 58
  2. [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 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for CYBC1 Gene

Sources for CYBC1 Gene

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