Aliases for CYB5R1 Gene

Aliases for CYB5R1 Gene

  • Cytochrome B5 Reductase 1 2 3 5
  • Humb5R2 2 3 4
  • NAD(P)H:Quinone Oxidoreductase Type 3, Polypeptide A2 2 3
  • NADH-Cytochrome B5 Reductase 1 3 4
  • EC 4 50
  • NQO3A2 3 4
  • B5R.1 3 4
  • NAD(P)H:Quinone Oxidoreductase Type 3 Polypeptide A2 4
  • CYB5R1 5
  • B5R1 3
  • B5R2 3

External Ids for CYB5R1 Gene

Previous HGNC Symbols for CYB5R1 Gene

  • NQO3A2

Previous GeneCards Identifiers for CYB5R1 Gene

  • GC01M198360
  • GC01M199397
  • GC01M200219
  • GC01M199663
  • GC01M201197
  • GC01M202930
  • GC01M174096
  • GC01M202963

Summaries for CYB5R1 Gene

GeneCards Summary for CYB5R1 Gene

CYB5R1 (Cytochrome B5 Reductase 1) is a Protein Coding gene. Diseases associated with CYB5R1 include Pentosuria and Methemoglobinemia. Among its related pathways are Metabolism and PAK Pathway. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and cytochrome-b5 reductase activity, acting on NAD(P)H. An important paralog of this gene is CYB5R3.

UniProtKB/Swiss-Prot Summary for CYB5R1 Gene

  • NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction.

Gene Wiki entry for CYB5R1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CYB5R1 Gene

Genomics for CYB5R1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CYB5R1 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 CYB5R1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CYB5R1

Top Transcription factor binding sites by QIAGEN in the CYB5R1 gene promoter:
  • CREB
  • deltaCREB
  • Ik-1
  • Lmo2
  • Nkx2-5
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for CYB5R1 Gene

Latest Assembly
5,403 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
5,385 bases
Minus strand

(GRCh37/hg19 by Ensembl)
5,412 bases
Minus strand

Genomic View for CYB5R1 Gene

Genes around CYB5R1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYB5R1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYB5R1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYB5R1 Gene

Proteins for CYB5R1 Gene

  • Protein details for CYB5R1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    NADH-cytochrome b5 reductase 1
    Protein Accession:
    Secondary Accessions:
    • A0PK21
    • B2R8E0
    • O95329
    • Q53F73
    • Q8NCL5
    • Q9UHJ1

    Protein attributes for CYB5R1 Gene

    305 amino acids
    Molecular mass:
    34095 Da
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    No Data Available
    • Sequence=AAC72953.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAI27946.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for CYB5R1 Gene

Selected DME Specific Peptides for CYB5R1 Gene


Post-translational modifications for CYB5R1 Gene

  • Glycosylation at Asn214
  • Ubiquitination at Lys178, Lys248, and Lys254
  • Modification sites at PhosphoSitePlus

Other Protein References for CYB5R1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for CYB5R1 Gene

Gene Families for CYB5R1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for CYB5R1 Gene

  • Oxidoreductase FAD/NAD(P)-binding
  • Flavoprotein pyridine nucleotide cytochrome reductase signature
  • Cytochrome B5 reductase signature
  • Oxidoreductase FAD-binding region

Suggested Antigen Peptide Sequences for CYB5R1 Gene

GenScript: Design optimal peptide antigens:
  • NAD(P)H:quinone oxidoreductase type 3 polypeptide A2 (NB5R1_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.
  • Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.
genes like me logo Genes that share domains with CYB5R1: view

Function for CYB5R1 Gene

Molecular function for CYB5R1 Gene

UniProtKB/Swiss-Prot Function:
NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 [Fe(III)-cytochrome b5] + NADH = 2 [Fe(II)-cytochrome b5] + H(+) + NAD(+); Xref=Rhea:RHEA:46680, Rhea:RHEA-COMP:10438, Rhea:RHEA-COMP:10439, ChEBI:CHEBI:15378, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=;.

Enzyme Numbers (IUBMB) for CYB5R1 Gene

Phenotypes From GWAS Catalog for CYB5R1 Gene

Gene Ontology (GO) - Molecular Function for CYB5R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004128 cytochrome-b5 reductase activity, acting on NAD(P)H IEA --
GO:0005515 protein binding IPI 25416956
GO:0016491 oxidoreductase activity IEA --
GO:0071949 FAD binding IBA 21873635
genes like me logo Genes that share ontologies with CYB5R1: view
genes like me logo Genes that share phenotypes with CYB5R1: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYB5R1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CYB5R1 Gene

Localization for CYB5R1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYB5R1 Gene

Membrane. Single-pass membrane protein.

Subcellular locations from

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 CYB5R1 gene
Compartment Confidence
mitochondrion 5
plasma membrane 4
extracellular 4
nucleus 2
endoplasmic reticulum 2
cytosol 2
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CYB5R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion HDA 20833797
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CYB5R1: view

Pathways & Interactions for CYB5R1 Gene

genes like me logo Genes that share pathways with CYB5R1: view

Pathways by source for CYB5R1 Gene

1 KEGG pathway for CYB5R1 Gene
1 Qiagen pathway for CYB5R1 Gene
  • Antioxidant Action of Vitamin-C

Gene Ontology (GO) - Biological Process for CYB5R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process IEA --
GO:0008202 steroid metabolic process IEA --
GO:0015701 bicarbonate transport TAS --
genes like me logo Genes that share ontologies with CYB5R1: view

No data available for SIGNOR curated interactions for CYB5R1 Gene

Drugs & Compounds for CYB5R1 Gene

(8) Drugs for CYB5R1 Gene - From: DrugBank, PharmGKB, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma Target 0
Isosorbide Dinitrate Approved, Investigational Pharma 92
Isosorbide Mononitrate Approved Pharma 0
Metoclopramide Approved, Investigational Pharma Dopamine receptor antagonist 161
Primaquine Approved Pharma 102

(1) Additional Compounds for CYB5R1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hydrogen Ion
  • H+
  • H(+)
  • Hydron
  • Hydrogen cation
  • Proton
genes like me logo Genes that share compounds with CYB5R1: view

Transcripts for CYB5R1 Gene

mRNA/cDNA for CYB5R1 Gene

15 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 CYB5R1

Alternative Splicing Database (ASD) splice patterns (SP) for CYB5R1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c · 5d ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b
SP1: - - - - - -
SP2: - - - -
SP3: - - -
SP4: - - - -
SP9: -

Relevant External Links for CYB5R1 Gene

GeneLoc Exon Structure for

Expression for CYB5R1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CYB5R1 Gene

mRNA differential expression in normal tissues according to GTEx for CYB5R1 Gene

This gene is overexpressed in Muscle - Skeletal (x9.4).

Protein differential expression in normal tissues from HIPED for CYB5R1 Gene

This gene is overexpressed in Nasal epithelium (23.1) and Placenta (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CYB5R1 Gene

Protein tissue co-expression partners for CYB5R1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CYB5R1

SOURCE GeneReport for Unigene cluster for CYB5R1 Gene:


mRNA Expression by UniProt/SwissProt for CYB5R1 Gene:

Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for CYB5R1 Gene

  • Lung(4.5)
  • Blood(4.3)
  • Adrenal gland(4.3)
  • Intestine(4.2)
  • Nervous system(3.6)
  • Muscle(2.9)
  • Heart(2.5)
  • Skin(2.4)
  • Liver(2.1)
genes like me logo Genes that share expression patterns with CYB5R1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for CYB5R1 Gene

Orthologs for CYB5R1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CYB5R1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CYB5R1 30
  • 100 (a)
LOC740001 29
  • 99.44 (n)
(Canis familiaris)
Mammalia CYB5R1 30
  • 91 (a)
(Mus musculus)
Mammalia Cyb5r1 29 16 30
  • 89.4 (n)
(Bos Taurus)
Mammalia CYB5R1 29 30
  • 88.85 (n)
(Rattus norvegicus)
Mammalia Cyb5r1 29
  • 88.74 (n)
(Monodelphis domestica)
Mammalia CYB5R1 30
  • 86 (a)
(Ornithorhynchus anatinus)
Mammalia CYB5R1 30
  • 83 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100488016 29
  • 61.69 (n)
(Danio rerio)
Actinopterygii cyb5r1 29 30
  • 63.05 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG5946 30
  • 51 (a)
(Caenorhabditis elegans)
Secernentea hpo-19 30
  • 51 (a)
T05H4.4 30
  • 50 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CBR1 30
  • 35 (a)
PGA3 30 32
  • 31 (a)
AIM33 30
  • 29 (a)
(Glycine max)
eudicotyledons Gma.8416 29
(Triticum aestivum)
Liliopsida Ta.5633 29
Bread mold
(Neurospora crassa)
Ascomycetes NCU08060 29
  • 55.09 (n)
Species where no ortholog for CYB5R1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chicken (Gallus gallus)
  • 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)
  • Lizard (Anolis carolinensis)
  • 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 Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for CYB5R1 Gene

Gene Tree for CYB5R1 (if available)
Gene Tree for CYB5R1 (if available)
Evolutionary constrained regions (ECRs) for CYB5R1: view image
Alliance of Genome Resources:
Additional Orthologs for CYB5R1

Paralogs for CYB5R1 Gene

Paralogs for CYB5R1 Gene

(2) SIMAP similar genes for CYB5R1 Gene using alignment to 2 proteins:

  • H7C0R7_HUMAN
genes like me logo Genes that share paralogs with CYB5R1: view

Variants for CYB5R1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CYB5R1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs2232842 -- p.Asn44Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CYB5R1 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 CYB5R1 Gene

Variant ID Type Subtype PubMed ID
nsv4121 CNV deletion 18451855

Variation tolerance for CYB5R1 Gene

Residual Variation Intolerance Score: 27.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.20; 80.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CYB5R1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYB5R1 Gene

Disorders for CYB5R1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CYB5R1 Gene - From: COP

Disorder Aliases PubMed IDs
  • pntsu
  • hemoglobinopathies
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CYB5R1

Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CYB5R1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CYB5R1 Gene

Publications for CYB5R1 Gene

  1. Identification of a cytochrome b-type NAD(P)H oxidoreductase ubiquitously expressed in human cells. (PMID: 10611283) Zhu H … Bunn HF (Proceedings of the National Academy of Sciences of the United States of America 1999) 2 3 4
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 40
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 40
  5. 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

Products for CYB5R1 Gene

Sources for CYB5R1 Gene