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Aliases for CYBRD1 Gene

Aliases for CYBRD1 Gene

  • Cytochrome B Reductase 1 2 3 5
  • Ferric-Chelate Reductase 3 2 3 4
  • Duodenal Cytochrome B 3 4
  • DCYTB 3 4
  • FRRS3 3 4
  • Cytochrome B561 Family, Member A2 3
  • Cytochrome B561 Family 2
  • EC 1.-.-.- 4
  • Member A2 2
  • CYB561A2 3

External Ids for CYBRD1 Gene

Previous GeneCards Identifiers for CYBRD1 Gene

  • GC02P172342
  • GC02P172581
  • GC02P172204
  • GC02P172087
  • GC02P172378
  • GC02P164264

Summaries for CYBRD1 Gene

Entrez Gene Summary for CYBRD1 Gene

  • This gene is a member of the cytochrome b(561) family that encodes an iron-regulated protein. It highly expressed in the duodenal brush border membrane. It has ferric reductase activity and is believed to play a physiological role in dietary iron absorption. [provided by RefSeq, Jul 2008]

GeneCards Summary for CYBRD1 Gene

CYBRD1 (Cytochrome B Reductase 1) is a Protein Coding gene. Diseases associated with CYBRD1 include hemochromatosis and porphyria cutanea tarda. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Insulin receptor recycling. GO annotations related to this gene include ferric-chelate reductase activity and oxidoreductase activity, oxidizing metal ions. An important paralog of this gene is CYB561A3.

UniProtKB/Swiss-Prot for CYBRD1 Gene

  • Ferric-chelate reductase that reduces Fe(3+) to Fe(2+). Present at the brush border of duodenal enterocytes where it probably reduces dietary Fe(3+) thereby facilitating its transport into the mucosal cells. Uses ascorbate as electron donor. May be involved in extracellular ascorbate recycling in erythrocyte membranes. May also act as a ferrireductase in airway epithelial cells.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYBRD1 Gene

Genomics for CYBRD1 Gene

Regulatory Elements for CYBRD1 Gene

Promoters for CYBRD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CYBRD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CYBRD1 Gene

Chromosome:
2
Start:
171,522,247 bp from pter
End:
171,558,133 bp from pter
Size:
35,887 bases
Orientation:
Plus strand

Genomic View for CYBRD1 Gene

Genes around CYBRD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYBRD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYBRD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYBRD1 Gene

Proteins for CYBRD1 Gene

  • Protein details for CYBRD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q53TN4-CYBR1_HUMAN
    Recommended name:
    Cytochrome b reductase 1
    Protein Accession:
    Q53TN4
    Secondary Accessions:
    • B2RE79
    • B4DWD7
    • Q6KC16
    • Q6KC17
    • Q6P147
    • Q6ZR51
    • Q9H0Q8
    • Q9H5G5

    Protein attributes for CYBRD1 Gene

    Size:
    286 amino acids
    Molecular mass:
    31641 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAG29366.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAG29367.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for CYBRD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CYBRD1 Gene

Proteomics data for CYBRD1 Gene at MOPED

Post-translational modifications for CYBRD1 Gene

  • Glycosylation at Asn 231
  • Modification sites at PhosphoSitePlus

Other Protein References for CYBRD1 Gene

Antibody Products

No data available for DME Specific Peptides for CYBRD1 Gene

Domains & Families for CYBRD1 Gene

Gene Families for CYBRD1 Gene

Protein Domains for CYBRD1 Gene

Graphical View of Domain Structure for InterPro Entry

Q53TN4

UniProtKB/Swiss-Prot:

CYBR1_HUMAN :
  • Contains 1 cytochrome b561 domain.
Domain:
  • Contains 1 cytochrome b561 domain.
genes like me logo Genes that share domains with CYBRD1: view

Function for CYBRD1 Gene

Molecular function for CYBRD1 Gene

UniProtKB/Swiss-Prot Function:
Ferric-chelate reductase that reduces Fe(3+) to Fe(2+). Present at the brush border of duodenal enterocytes where it probably reduces dietary Fe(3+) thereby facilitating its transport into the mucosal cells. Uses ascorbate as electron donor. May be involved in extracellular ascorbate recycling in erythrocyte membranes. May also act as a ferrireductase in airway epithelial cells.
UniProtKB/Swiss-Prot Induction:
By iron deficiency (at protein level).

Enzyme Numbers (IUBMB) for CYBRD1 Gene

Gene Ontology (GO) - Molecular Function for CYBRD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CYBRD1: view
genes like me logo Genes that share phenotypes with CYBRD1: view

Animal Models for CYBRD1 Gene

MGI Knock Outs for CYBRD1:

Animal Model Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CYBRD1 Gene

Localization for CYBRD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYBRD1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CYBRD1 Gene COMPARTMENTS Subcellular localization image for CYBRD1 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 3
golgi apparatus 2

No data available for Gene Ontology (GO) - Cellular Components for CYBRD1 Gene

Pathways & Interactions for CYBRD1 Gene

genes like me logo Genes that share pathways with CYBRD1: view

Pathways by source for CYBRD1 Gene

1 KEGG pathway for CYBRD1 Gene

Interacting Proteins for CYBRD1 Gene

Gene Ontology (GO) - Biological Process for CYBRD1 Gene

None

No data available for SIGNOR curated interactions for CYBRD1 Gene

Drugs & Compounds for CYBRD1 Gene

(3) Drugs for CYBRD1 Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
heme Pharma Agonist 0

(2) Additional Compounds for CYBRD1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
genes like me logo Genes that share compounds with CYBRD1: view

Transcripts for CYBRD1 Gene

Unigene Clusters for CYBRD1 Gene

Cytochrome b reductase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CYBRD1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d
SP1: - - -
SP2: - -
SP3: -
SP4: - - - -
SP5:

Relevant External Links for CYBRD1 Gene

GeneLoc Exon Structure for
CYBRD1
ECgene alternative splicing isoforms for
CYBRD1

Expression for CYBRD1 Gene

mRNA expression in normal human tissues for CYBRD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CYBRD1 Gene

This gene is overexpressed in Adipocyte (14.9) and Adrenal (14.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for CYBRD1 Gene



SOURCE GeneReport for Unigene cluster for CYBRD1 Gene Hs.221941

mRNA Expression by UniProt/SwissProt for CYBRD1 Gene

Q53TN4-CYBR1_HUMAN
Tissue specificity: Present in erythrocyte membranes (at protein level). Also expressed in respiratory epithelium.
genes like me logo Genes that share expression patterns with CYBRD1: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for CYBRD1 Gene

Orthologs for CYBRD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CYBRD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CYBRD1 36
  • 99 (a)
OneToOne
CYBRD1 35
  • 99.65 (n)
  • 98.95 (a)
cow
(Bos Taurus)
Mammalia CYBRD1 35
  • 86.43 (n)
  • 82.11 (a)
CYBRD1 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CYBRD1 36
  • 75 (a)
OneToOne
CYBRD1 35
  • 83.45 (n)
  • 76.79 (a)
mouse
(Mus musculus)
Mammalia Cybrd1 16
Cybrd1 36
  • 74 (a)
OneToOne
Cybrd1 35
  • 79.49 (n)
  • 75.52 (a)
oppossum
(Monodelphis domestica)
Mammalia CYBRD1 36
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cybrd1 35
  • 79.84 (n)
  • 75.52 (a)
chicken
(Gallus gallus)
Aves CYBRD1 35
  • 72.44 (n)
  • 68.9 (a)
CYBRD1 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CYBRD1 36
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cybrd1 35
  • 65.96 (n)
  • 65.72 (a)
zebrafish
(Danio rerio)
Actinopterygii cybrd1 36
  • 59 (a)
OneToOne
cybrd1 35
  • 61.2 (n)
  • 61.48 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005520 35
  • 54.83 (n)
  • 44.39 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1275 36
  • 28 (a)
ManyToMany
nemy 36
  • 24 (a)
ManyToMany
CG1275 35
  • 51.54 (n)
  • 44.44 (a)
worm
(Caenorhabditis elegans)
Secernentea F39G3.4 36
  • 18 (a)
ManyToMany
F39G3.5 36
  • 24 (a)
ManyToMany
F55H2.5 36
  • 26 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 34 (a)
OneToMany
Species with no ortholog for CYBRD1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CYBRD1 Gene

ENSEMBL:
Gene Tree for CYBRD1 (if available)
TreeFam:
Gene Tree for CYBRD1 (if available)

Paralogs for CYBRD1 Gene

Paralogs for CYBRD1 Gene

(2) SIMAP similar genes for CYBRD1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CYBRD1: view

Variants for CYBRD1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CYBRD1 Gene

Q53TN4-CYBR1_HUMAN
Genetic variations in CYBRD1 may act as modifier of iron overload expression and account for the variance observed in serum ferritin levels in patients with hereditary hemochromatosis.

Sequence variations from dbSNP and Humsavar for CYBRD1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs16859487 - 171,553,410(+) TCTCA(C/T)GCCCA reference, synonymous-codon, missense
rs62181680 - 171,554,643(+) GAAAC(A/G)TCCTA reference, synonymous-codon, missense
rs10455 - 171,554,763(+) AAACA(A/G)TGAAG reference, missense, utr-variant-3-prime
rs17554 -- 171,546,859(+) TTTGA(A/G)GAGTA intron-variant
rs1047255 -- 171,555,498(+) CAAAA(C/G)TGAAG utr-variant-3-prime

Variation tolerance for CYBRD1 Gene

Residual Variation Intolerance Score: 83.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.31; 26.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CYBRD1 Gene

HapMap Linkage Disequilibrium report
CYBRD1
Human Gene Mutation Database (HGMD)
CYBRD1

No data available for Structural Variations from Database of Genomic Variants (DGV) for CYBRD1 Gene

Disorders for CYBRD1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CYBRD1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hemochromatosis
  • hfe hemochromatosis, modifier of
porphyria cutanea tarda
  • porphyria, hepatoerythropoietic
deficiency anemia
  • anemia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CYBRD1

Genetic Association Database (GAD)
CYBRD1
Human Genome Epidemiology (HuGE) Navigator
CYBRD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CYBRD1
genes like me logo Genes that share disorders with CYBRD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CYBRD1 Gene

Publications for CYBRD1 Gene

  1. Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload. (PMID: 15338274) Zaahl M.G. … Robson K.J.H. (Hum. Genet. 2004) 3 4 23 48 67
  2. Functional characterization of human duodenal cytochrome b (Cybrd1): Redox properties in relation to iron and ascorbate metabolism. (PMID: 18194661) Oakhill J.S. … McKie A.T. (Biochim. Biophys. Acta 2008) 3 23
  3. Duodenal cytochrome B expression stimulates iron uptake by human intestinal epithelial cells. (PMID: 18492824) Latunde-Dada G.O. … McKie A.T. (J. Nutr. 2008) 3 23
  4. Duodenal cytochrome b and hephaestin expression in patients with iron deficiency and hemochromatosis. (PMID: 12949720) Zoller H. … Weiss G. (Gastroenterology 2003) 3 23
  5. An iron-regulated ferric reductase associated with the absorption of dietary iron. (PMID: 11230685) McKie A.T. … Simpson R.J. (Science 2001) 2 3

Products for CYBRD1 Gene

Sources for CYBRD1 Gene

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