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Aliases for CYB5R1 Gene

Aliases for CYB5R1 Gene

  • Cytochrome B5 Reductase 1 2 3 5
  • NAD(P)H:Quinone Oxidoreductase Type 3, Polypeptide A2 2 3
  • EC 1.6.2.2 4 61
  • Humb5R2 3 4
  • NQO3A2 3 4
  • B5R.1 3 4
  • NAD(P)H:Quinone Oxidoreductase Type 3 Polypeptide A2 4
  • NADH-Cytochrome B5 Reductase 1 3
  • 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

Summaries for CYB5R1 Gene

GeneCards Summary for CYB5R1 Gene

CYB5R1 (Cytochrome B5 Reductase 1) is a Protein Coding gene. Among its related pathways are Platelet activation, signaling and aggregation and Metabolism. 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 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 , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYB5R1 Gene

Genomics for CYB5R1 Gene

Regulatory Elements for CYB5R1 Gene

Enhancers for CYB5R1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around CYB5R1 on UCSC Golden Path with GeneCards custom track

Promoters for CYB5R1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for CYB5R1 Gene

Chromosome:
1
Start:
202,961,869 bp from pter
End:
202,967,280 bp from pter
Size:
5,412 bases
Orientation:
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:
    Q9UHQ9-NB5R1_HUMAN
    Recommended name:
    NADH-cytochrome b5 reductase 1
    Protein Accession:
    Q9UHQ9
    Secondary Accessions:
    • A0PK21
    • B2R8E0
    • O95329
    • Q53F73
    • Q8NCL5
    • Q9UHJ1

    Protein attributes for CYB5R1 Gene

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

neXtProt entry for CYB5R1 Gene

Post-translational modifications for CYB5R1 Gene

  • Ubiquitination at Lys 178, Lys 248, and Lys 254
  • Glycosylation at Asn 214
  • Modification sites at PhosphoSitePlus

Other Protein References for CYB5R1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for CYB5R1 Gene

Suggested Antigen Peptide Sequences for CYB5R1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UHQ9

UniProtKB/Swiss-Prot:

NB5R1_HUMAN :
  • Contains 1 FAD-binding FR-type domain.
  • Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.
Domain:
  • Contains 1 FAD-binding FR-type domain.
Family:
  • Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.
genes like me logo Genes that share domains with CYB5R1: view

No data available for Gene Families for CYB5R1 Gene

Function for CYB5R1 Gene

Molecular function for CYB5R1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
NADH + 2 ferricytochrome b5 = NAD(+) + H(+) + 2 ferrocytochrome b5.
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.

Enzyme Numbers (IUBMB) for CYB5R1 Gene

Gene Ontology (GO) - Molecular Function for CYB5R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0004128 cytochrome-b5 reductase activity, acting on NAD(P)H TAS --
GO:0005515 protein binding IPI 25416956
GO:0071949 FAD binding IBA --
genes like me logo Genes that share ontologies with CYB5R1: view

Phenotypes for CYB5R1 Gene

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

Animal Model Products

CRISPR Products

miRNA for CYB5R1 Gene

miRTarBase miRNAs that target CYB5R1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

COMPARTMENTS
Jensen Localization Image for CYB5R1 Gene COMPARTMENTS Subcellular localization image for CYB5R1 gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 2
endoplasmic reticulum 2
nucleus 2
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CYB5R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 20833797
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IDA 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

Gene Ontology (GO) - Biological Process for CYB5R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0008150 biological_process ND --
GO:0015701 bicarbonate transport TAS --
GO:0016126 sterol biosynthetic process IEA --
GO:0055114 oxidation-reduction process IEA --
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
Lidocaine Approved, Vet_approved Pharma Antagonist, Pore Blocker Anasthetic and class Ib antiarrhythmic agent 1168
Metoclopramide Approved, Investigational Pharma Dopamine receptor antagonist 107
Prilocaine Approved Pharma 77
Primaquine Approved Pharma 75

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

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

Transcripts for CYB5R1 Gene

Unigene Clusters for CYB5R1 Gene

Cytochrome b5 reductase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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: - - - -
SP5:
SP6:
SP7:
SP8:
SP9: -
SP10:

Relevant External Links for CYB5R1 Gene

GeneLoc Exon Structure for
CYB5R1
ECgene alternative splicing isoforms for
CYB5R1

Expression for CYB5R1 Gene

mRNA expression in normal human tissues 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, PaxDb, MaxQB, and MOPED for CYB5R1 Gene



Protein tissue co-expression partners for CYB5R1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CYB5R1 Gene:

CYB5R1

SOURCE GeneReport for Unigene cluster for CYB5R1 Gene:

Hs.334832

mRNA Expression by UniProt/SwissProt for CYB5R1 Gene:

Q9UHQ9-NB5R1_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with CYB5R1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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
cow
(Bos Taurus)
Mammalia CYB5R1 34
  • 88.85 (n)
  • 90.16 (a)
CYB5R1 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cyb5r1 34
  • 89.4 (n)
  • 91.8 (a)
Cyb5r1 16
Cyb5r1 35
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LOC740001 34
  • 99.44 (n)
  • 100 (a)
CYB5R1 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cyb5r1 34
  • 88.74 (n)
  • 91.15 (a)
dog
(Canis familiaris)
Mammalia CYB5R1 35
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CYB5R1 35
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYB5R1 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488016 34
  • 61.69 (n)
  • 60.34 (a)
zebrafish
(Danio rerio)
Actinopterygii cyb5r1 34
  • 63.05 (n)
  • 62.83 (a)
cyb5r1 35
  • 61 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5946 35
  • 51 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hpo-19 35
  • 51 (a)
ManyToMany
T05H4.4 35
  • 50 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AIM33 35
  • 29 (a)
ManyToMany
CBR1 35
  • 35 (a)
ManyToMany
PGA3 35
  • 31 (a)
ManyToMany
PGA3 37
soybean
(Glycine max)
eudicotyledons Gma.8416 34
wheat
(Triticum aestivum)
Liliopsida Ta.5633 34
bread mold
(Neurospora crassa)
Ascomycetes NCU08060 34
  • 55.09 (n)
  • 46.86 (a)
Species where no ortholog for CYB5R1 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)
  • 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 squirt (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

ENSEMBL:
Gene Tree for CYB5R1 (if available)
TreeFam:
Gene Tree for CYB5R1 (if available)

Paralogs for CYB5R1 Gene

Paralogs for CYB5R1 Gene

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

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

Variants for CYB5R1 Gene

Sequence variations from dbSNP and Humsavar for CYB5R1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs2232842 - 202,966,783(-) CCCCA(A/G)TGAAA reference, missense
rs12973 -- 202,962,162(-) TGTGC(A/T)ATGGG utr-variant-3-prime
rs13107 -- 202,962,196(-) CACCT(C/G/T)CTTTG utr-variant-3-prime
rs1127217 -- 202,966,595(-) ACTGT(A/G)AGCCA reference, synonymous-codon
rs1418445 -- 202,964,864(+) ATATA(C/G)TTGAG intron-variant

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)

Relevant External Links for CYB5R1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYB5R1

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

Disorders for CYB5R1 Gene

Relevant External Links for CYB5R1

Genetic Association Database (GAD)
CYB5R1
Human Genome Epidemiology (HuGE) Navigator
CYB5R1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CYB5R1

No disorders were found for CYB5R1 Gene.

No data available for MalaCards , 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 H.F. (Proc. Natl. Acad. Sci. U.S.A. 1999) 2 3 4 65
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 65
  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 S.D. … Anand S. (Diabetes Care 2010) 3 46 65
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 65
  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 Res. 2005) 3 4 65

Products for CYB5R1 Gene

Sources for CYB5R1 Gene

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