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Aliases for CYBRD1 Gene

Aliases for CYBRD1 Gene

  • Cytochrome B Reductase 1 2 3
  • 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

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. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Mineral absorption. 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

Genomic Location for CYBRD1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CYBRD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYBRD1 Gene

Regulatory Elements 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; Note=Binds 2 heme groups non-covalently.;
    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

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn231

Other Protein References for CYBRD1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for CYBRD1 Gene

Domains for CYBRD1 Gene

Gene Families for CYBRD1 Gene

HGNC:
  • CYB :Cytochrome b genes

Protein Domains for CYBRD1 Gene

Graphical View of Domain Structure for InterPro Entry

Q53TN4

UniProtKB/Swiss-Prot:

CYBR1_HUMAN
Domain:
  • Contains 1 cytochrome b561 domain.:
    • Q53TN4
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:0000293 ferric-chelate reductase activity IDA 14499595
GO:0005515 protein binding IPI 21516116
GO:0016722 oxidoreductase activity, oxidizing metal ions TAS --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CYBRD1: view

Phenotypes for CYBRD1 Gene

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

Animal Models for CYBRD1 Gene

MGI Knock Outs for CYBRD1:

miRNA for CYBRD1 Gene

No data available for Transcription Factor Targeting 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
plasma membrane 4
cytosol 1
extracellular 1
golgi apparatus 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CYBRD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016021 integral component of membrane IEA --
GO:0031526 brush border membrane IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with CYBRD1: view

Pathways 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

GO ID Qualified GO term Evidence PubMed IDs
GO:0006879 cellular iron ion homeostasis TAS --
GO:0010039 response to iron ion IEA --
GO:0055085 transmembrane transport TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with CYBRD1: view

Compounds for CYBRD1 Gene

(2) HMDB Compounds for CYBRD1 Gene

Compound Synonyms Cas Number PubMed IDs
Heme
  • (protoporphyrinato)iron
14875-96-8
Iron
  • Armco iron
7439-89-6

(3) Novoseek inferred chemical compound relationships for CYBRD1 Gene

Compound -log(P) Hits PubMed IDs
iron 62.3 28
fe3+ 53.1 1
ascorbic acid 51 4
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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, 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 expressions with CYBRD1: view

No data available for mRNA differential expression in normal tissues 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 35
  • 99.65 (n)
  • 98.95 (a)
CYBRD1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CYBRD1 35
  • 86.43 (n)
  • 82.11 (a)
CYBRD1 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CYBRD1 35
  • 83.45 (n)
  • 76.79 (a)
CYBRD1 36
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cybrd1 35
  • 79.49 (n)
  • 75.52 (a)
Cybrd1 16
Cybrd1 36
  • 74 (a)
OneToOne
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 35
  • 61.2 (n)
  • 61.48 (a)
cybrd1 36
  • 59 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005520 35
  • 54.83 (n)
  • 44.39 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1275 35
  • 51.54 (n)
  • 44.44 (a)
CG1275 36
  • 28 (a)
ManyToMany
nemy 36
  • 24 (a)
ManyToMany
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

Selected 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 MAF
rs525 -- 171,558,018(-) AATGC(A/G)CTAAG utr-variant-3-prime
rs528 -- 171,557,952(-) AAGAA(A/C/T)AATAA utr-variant-3-prime
rs3049 -- 171,530,336(-) CTTTG(G/T)GCTTC intron-variant
rs10455 - 171,554,763(+) AAACA(A/G)TGAAG utr-variant-3-prime, missense, reference
rs17554 -- 171,546,859(+) TTTGA(A/G)GAGTA intron-variant

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

(1) University of Copenhagen DISEASES for CYBRD1 Gene

(4) Novoseek inferred disease relationships for CYBRD1 Gene

Disease -log(P) Hits PubMed IDs
hereditary hemochromatosis 80.7 1
iron deficiency 68.5 8
iron overload 60.1 3
hemochromatosis 57.3 3

Relevant External Links for CYBRD1

Genetic Association Database (GAD)
CYBRD1
Human Genome Epidemiology (HuGE) Navigator
CYBRD1
genes like me logo Genes that share disorders with CYBRD1: view

No data available for UniProtKB/Swiss-Prot 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
  2. Duodenal cytochrome b and hephaestin expression in patients with iron deficiency and hemochromatosis. (PMID: 12949720) Zoller H. … Weiss G. (Gastroenterology 2003) 3 4 23
  3. A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis. (PMID: 19673882) Constantine C.C. … Gurrin L.C. (Br. J. Haematol. 2009) 3 4 48
  4. Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. (PMID: 20587610) Ucisik-Akkaya E. … Dorak M.T. (Mol. Hum. Reprod. 2010) 3 48
  5. Immunolocalization of duodenal cytochrome B: a relationship with circulating markers of iron status. (PMID: 17087784) Li A.C.Y. … Powell J.J. (Eur. J. Clin. Invest. 2006) 4 23

Products for CYBRD1 Gene

Sources for CYBRD1 Gene

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