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] See more...

Aliases for CYBRD1 Gene

Aliases for CYBRD1 Gene

  • Cytochrome B Reductase 1 2 3 4 5
  • Ferric-Chelate Reductase 3 2 3 4
  • DCYTB 2 3 4
  • FRRS3 2 3 4
  • Cytochrome B561 Family, Member A2 2 3
  • Duodenal Cytochrome B 3 4
  • CYB561A2 2 3
  • EC 1.-.-.- 4
  • FLJ23462 2
  • CYBRD1 5

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, Type 1 and Iron Metabolism Disease. 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. Gene Ontology (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 Summary 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 CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CYBRD1 Gene

Genomics for CYBRD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CYBRD1 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 CYBRD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CYBRD1

Top Transcription factor binding sites by QIAGEN in the CYBRD1 gene promoter:
  • Brachyury
  • CP2
  • E47
  • HSF1 (long)
  • HSF1short
  • p300
  • Pax-5
  • RelA
  • Tal-1

Genomic Locations for CYBRD1 Gene

Latest Assembly
chr2:171,522,233-171,558,129
(GRCh38/hg38)
Size:
35,897 bases
Orientation:
Plus strand

Previous Assembly
chr2:172,378,743-172,414,639
(GRCh37/hg19 by Entrez Gene)
Size:
35,897 bases
Orientation:
Plus strand

chr2:172,378,757-172,414,643
(GRCh37/hg19 by Ensembl)
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};

    Three dimensional structures from OCA and Proteopedia for CYBRD1 Gene

    Alternative splice isoforms for CYBRD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CYBRD1 Gene

Post-translational modifications for CYBRD1 Gene

  • Glycosylation at Asn231
  • Modification sites at PhosphoSitePlus

Other Protein References for CYBRD1 Gene

No data available for DME Specific Peptides for CYBRD1 Gene

Domains & Families for CYBRD1 Gene

Gene Families for CYBRD1 Gene

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

Protein Domains for CYBRD1 Gene

InterPro:
Blocks:
  • Cytochrome b561 / ferric reductase transmembrane

Suggested Antigen Peptide Sequences for CYBRD1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ56257, highly similar to Homo sapiens cytochrome b reductase 1 (CYBRD1), mRNA (B4DWD7_HUMAN)
  • Ferric-chelate reductase 3 (CYBR1_HUMAN)
  • cDNA FLJ46645 fis, clone TRACH3003872 (Q6ZR51_HUMAN)
genes like me logo Genes that share domains with CYBRD1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CYBRD1 Gene

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

Phenotypes From GWAS Catalog 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 IEA,IDA 14499595
GO:0005515 protein binding IPI 21516116
GO:0016491 oxidoreductase activity IEA,IBA 21873635
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:

miRNA for CYBRD1 Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYBRD1

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
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 CYBRD1 gene
Compartment Confidence
plasma membrane 5
extracellular 4
lysosome 4
cytosol 3
mitochondrion 2
endosome 2
golgi apparatus 2
cytoskeleton 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CYBRD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane IBA 21873635
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031526 brush border membrane IEA --
genes like me logo Genes that share ontologies with CYBRD1: view

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

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:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with CYBRD1: view

No data available for SIGNOR curated interactions for CYBRD1 Gene

Drugs & Compounds for CYBRD1 Gene

(6) Drugs for CYBRD1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ferrous sulfate anhydrous Approved Pharma Enzyme, substrate 0
Tetraferric tricitrate decahydrate Approved Pharma Enzyme, substrate 0
Fe2+ Experimental Pharma 0
heme Pharma 0

(1) Additional Compounds for CYBRD1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CYBRD1: view

Transcripts for CYBRD1 Gene

mRNA/cDNA for CYBRD1 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYBRD1

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

Expression for CYBRD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for CYBRD1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CYBRD1

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.

Evidence on tissue expression from TISSUES for CYBRD1 Gene

  • Nervous system(4.9)
  • Intestine(4.6)
  • Skin(4.5)
  • Heart(2.7)
  • Lung(2.6)
  • Stomach(2.5)
  • Liver(2.5)
  • Muscle(2.4)
  • Spleen(2.4)
  • Kidney(2.3)
  • Adrenal gland(2.3)
  • Blood(2.2)
  • Thyroid gland(2.2)
  • Bone marrow(2.1)
  • Gall bladder(2)
genes like me logo Genes that share expression patterns with CYBRD1: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 29 30
  • 99.65 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CYBRD1 29 30
  • 86.43 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CYBRD1 29 30
  • 83.45 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cybrd1 29
  • 79.84 (n)
Mouse
(Mus musculus)
Mammalia Cybrd1 29 16 30
  • 79.49 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CYBRD1 30
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CYBRD1 29 30
  • 72.44 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CYBRD1 30
  • 59 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cybrd1 29
  • 65.96 (n)
Zebrafish
(Danio rerio)
Actinopterygii cybrd1 29 30
  • 61.2 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005520 29
  • 54.83 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG1275 29 30
  • 51.54 (n)
ManyToMany
nemy 30
  • 24 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea F55H2.5 30
  • 26 (a)
ManyToMany
F39G3.5 30
  • 24 (a)
ManyToMany
F39G3.4 30
  • 18 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 34 (a)
OneToMany
Species where no ortholog for CYBRD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CYBRD1: view image
Alliance of Genome Resources:
Additional Orthologs for CYBRD1

Paralogs for CYBRD1 Gene

Paralogs for CYBRD1 Gene

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

  • CYBR1_HUMAN
  • C9JML1_HUMAN
genes like me logo Genes that share paralogs with CYBRD1: view

Variants for CYBRD1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CYBRD1 Gene

CYBR1_HUMAN-Q53TN4
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CYBRD1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs10455 -- p.Ser266Asn
rs16859487 -- p.Met156Thr
rs62181680 -- p.Arg226His

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CYBRD1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CYBRD1 Gene

Variant ID Type Subtype PubMed ID
nsv1160884 CNV duplication 26073780

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)

Additional Variant Information for CYBRD1 Gene

Human Gene Mutation Database (HGMD)
CYBRD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYBRD1
Leiden Open Variation Database (LOVD)
CYBRD1

SNP Genotyping and Copy Number Assays for research

Disorders for CYBRD1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for CYBRD1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
hemochromatosis, type 1
  • hfe1
iron metabolism disease
  • disorder of iron metabolism
porphyria cutanea tarda
  • pct
retinitis pigmentosa 50
  • rp50
porphyria
  • disorder of porphyrin and hem metabolism
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CYBRD1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 MG … Robson KJ (Human genetics 2004) 3 4 22 40
  2. A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis. (PMID: 19673882) Constantine CC … Gurrin LC (British journal of haematology 2009) 3 4 40
  3. Duodenal cytochrome b and hephaestin expression in patients with iron deficiency and hemochromatosis. (PMID: 12949720) Zoller H … Weiss G (Gastroenterology 2003) 3 4 22
  4. Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. (PMID: 20587610) Ucisik-Akkaya E … Dorak MT (Molecular human reproduction 2010) 3 40
  5. Gene variants associated with ischemic stroke: the cardiovascular health study. (PMID: 19023099) Luke MM … Psaty BM (Stroke 2009) 3 40

Products for CYBRD1 Gene

Sources for CYBRD1 Gene