Aliases for CYB561A3 Gene

Aliases for CYB561A3 Gene

  • Cytochrome B561 Family Member A3 2 3 4 5
  • Cytochrome B Ascorbate-Dependent Protein 3 3 4
  • Cytochrome B, Ascorbate Dependent 3 2 3
  • Lysosomal Cytochrome B 3 4
  • CYBASC3 3 4
  • LCYTB 3 4
  • Cytochrome B561 Family, Member A3 2
  • EC 1.-.-.- 4
  • LCytb 4

External Ids for CYB561A3 Gene

Previous HGNC Symbols for CYB561A3 Gene

  • CYBASC3

Previous GeneCards Identifiers for CYB561A3 Gene

  • GC11M061117

Summaries for CYB561A3 Gene

GeneCards Summary for CYB561A3 Gene

CYB561A3 (Cytochrome B561 Family Member A3) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity. An important paralog of this gene is CYBRD1.

UniProtKB/Swiss-Prot Summary for CYB561A3 Gene

  • Ferric-chelate reductase that reduces Fe(3+) to Fe(2+) before its transport from the endosome to the cytoplasm. Probably uses ascorbate as electron donor (By similarity).

Additional gene information for CYB561A3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CYB561A3 Gene

Genomics for CYB561A3 Gene

GeneHancer (GH) Regulatory Elements for CYB561A3 Gene

Promoters and enhancers for CYB561A3 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 CYB561A3 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CYB561A3 Gene

Genomic Locations for CYB561A3 Gene
chr11:61,348,745-61,362,299
(GRCh38/hg38)
Size:
13,555 bases
Orientation:
Minus strand
chr11:61,116,217-61,129,771
(GRCh37/hg19)
Size:
13,555 bases
Orientation:
Minus strand

Genomic View for CYB561A3 Gene

Genes around CYB561A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYB561A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYB561A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYB561A3 Gene

Proteins for CYB561A3 Gene

  • Protein details for CYB561A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NBI2-CYAC3_HUMAN
    Recommended name:
    Cytochrome b ascorbate-dependent protein 3
    Protein Accession:
    Q8NBI2
    Secondary Accessions:
    • B3KPU2
    • B4DLN9
    • J3KQH4
    • Q6PK96

    Protein attributes for CYB561A3 Gene

    Size:
    242 amino acids
    Molecular mass:
    27214 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CYB561A3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CYB561A3 Gene

Post-translational modifications for CYB561A3 Gene

No data available for DME Specific Peptides for CYB561A3 Gene

Domains & Families for CYB561A3 Gene

Gene Families for CYB561A3 Gene

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

Protein Domains for CYB561A3 Gene

Suggested Antigen Peptide Sequences for CYB561A3 Gene

GenScript: Design optimal peptide antigens:
  • Lysosomal cytochrome b (CYAC3_HUMAN)
genes like me logo Genes that share domains with CYB561A3: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CYB561A3 Gene

Function for CYB561A3 Gene

Molecular function for CYB561A3 Gene

UniProtKB/Swiss-Prot Function:
Ferric-chelate reductase that reduces Fe(3+) to Fe(2+) before its transport from the endosome to the cytoplasm. Probably uses ascorbate as electron donor (By similarity).

Enzyme Numbers (IUBMB) for CYB561A3 Gene

Phenotypes From GWAS Catalog for CYB561A3 Gene

Gene Ontology (GO) - Molecular Function for CYB561A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0016491 oxidoreductase activity IBA 21873635
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CYB561A3: view
genes like me logo Genes that share phenotypes with CYB561A3: view

Animal Models for CYB561A3 Gene

MGI Knock Outs for CYB561A3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYB561A3

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CYB561A3 Gene

Localization for CYB561A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYB561A3 Gene

Late endosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-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 CYB561A3 gene
Compartment Confidence
endosome 4
plasma membrane 2
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for CYB561A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IBA,ISS --
GO:0005768 endosome IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CYB561A3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CYB561A3 Gene

Pathways & Interactions for CYB561A3 Gene

PathCards logo

SuperPathways for CYB561A3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CYB561A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with CYB561A3: view

No data available for Pathways by source and SIGNOR curated interactions for CYB561A3 Gene

Drugs & Compounds for CYB561A3 Gene

No Compound Related Data Available

Transcripts for CYB561A3 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYB561A3

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYB561A3 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d ^ 10a · 10b · 10c ^ 11 ^ 12a ·
SP1: - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - -
SP4: - -
SP5: - - - - - - - - -
SP6: - - - -
SP7: - - - - -
SP8: - - -
SP9: - - - - - - -
SP10: - - - - - - - - -
SP11: - - -
SP12: -
SP13: - - - - - - - - -

ExUns: 12b · 12c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for CYB561A3 Gene

GeneLoc Exon Structure for
CYB561A3
ECgene alternative splicing isoforms for
CYB561A3

Expression for CYB561A3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CYB561A3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYB561A3 Gene

This gene is overexpressed in Adrenal Gland (x10.2).

Protein differential expression in normal tissues from HIPED for CYB561A3 Gene

This gene is overexpressed in Blymphocyte (32.4), Lymph node (28.6), and Monocytes (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CYB561A3 Gene



Protein tissue co-expression partners for CYB561A3 Gene

NURSA nuclear receptor signaling pathways regulating expression of CYB561A3 Gene:

CYB561A3

SOURCE GeneReport for Unigene cluster for CYB561A3 Gene:

Hs.22546

Evidence on tissue expression from TISSUES for CYB561A3 Gene

  • Nervous system(4.8)
  • Blood(4.6)
  • Pancreas(4.2)
  • Skin(3.3)
  • Lung(3)
  • Spleen(2.9)
  • Adrenal gland(2.1)
genes like me logo Genes that share expression patterns with CYB561A3: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CYB561A3 Gene

Orthologs for CYB561A3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CYB561A3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CYB561A3 33
  • 100 (a)
OneToOne
LOC451235 32
  • 99.74 (n)
mouse
(Mus musculus)
Mammalia Cyb561a3 17 33 32
  • 83.88 (n)
rat
(Rattus norvegicus)
Mammalia Cyb561a3 32
  • 83.26 (n)
cow
(Bos Taurus)
Mammalia CYB561A3 33 32
  • 82.23 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CYBASC3 32
  • 81.4 (n)
CYB561A3 33
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CYB561A3 33
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYB561A3 33
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves CYBASC3 33 32
  • 68.8 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CYB561A3 33
  • 49 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii cyb561a3a 33 32
  • 56.88 (n)
OneToMany
cyb561a3b 33
  • 49 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG1275 33
  • 26 (a)
ManyToMany
nemy 33
  • 24 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea F55H2.5 33
  • 27 (a)
ManyToMany
F39G3.5 33
  • 23 (a)
ManyToMany
F39G3.4 33
  • 17 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons CYB-1 32
  • 46.48 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 41 (a)
OneToMany
Species where no ortholog for CYB561A3 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)
  • 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 urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CYB561A3 Gene

ENSEMBL:
Gene Tree for CYB561A3 (if available)
TreeFam:
Gene Tree for CYB561A3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CYB561A3: view image

Paralogs for CYB561A3 Gene

Paralogs for CYB561A3 Gene

(2) SIMAP similar genes for CYB561A3 Gene using alignment to 12 proteins:

  • CYAC3_HUMAN
  • F5GWH8_HUMAN
  • F5GX87_HUMAN
  • F5H0P5_HUMAN
  • F5H121_HUMAN
  • F5H1Q2_HUMAN
  • F5H240_HUMAN
  • F5H466_HUMAN
  • F5H5L0_HUMAN
  • F5H5Y9_HUMAN
  • F5H684_HUMAN
  • F5H832_HUMAN
genes like me logo Genes that share paralogs with CYB561A3: view

Variants for CYB561A3 Gene

Sequence variations from dbSNP and Humsavar for CYB561A3 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs112115349 uncertain-significance, Joubert syndrome 61,362,305(-) C/T upstream_transcript_variant
rs146156958 uncertain-significance, Joubert syndrome 61,362,321(-) C/T upstream_transcript_variant
rs192845534 uncertain-significance, Joubert syndrome 61,362,081(-) A/C 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs369988724 uncertain-significance, Joubert syndrome 61,362,039(-) CTCC/C 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs530037192 uncertain-significance, Joubert syndrome 61,362,042(-) C/G/T 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for CYB561A3 Gene

Variant ID Type Subtype PubMed ID
nsv428259 CNV gain+loss 18775914
nsv832177 CNV loss 17160897

Variation tolerance for CYB561A3 Gene

Residual Variation Intolerance Score: 45.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.53; 29.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CYB561A3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYB561A3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYB561A3 Gene

Disorders for CYB561A3 Gene

Additional Disease Information for CYB561A3

No disorders were found for CYB561A3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CYB561A3 Gene

Publications for CYB561A3 Gene

  1. Cytochromes b561: ascorbate-mediated trans-membrane electron transport. (PMID: 23249217) Asard H … Bérczi A (Antioxidants & redox signaling 2013) 2 3 56
  2. Integral and associated lysosomal membrane proteins. (PMID: 17897319) Schröder B … Hasilik A (Traffic (Copenhagen, Denmark) 2007) 3 4 56
  3. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4 56
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 56

Products for CYB561A3 Gene

Sources for CYB561A3 Gene