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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 56
  • 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 Response to elevated platelet cytosolic Ca2+ and Metabolism. 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 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

Additional gene information for CYB5R1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYB5R1 Gene

Genomics for CYB5R1 Gene

GeneHancer (GH) Regulatory Elements for CYB5R1 Gene

Promoters and enhancers for CYB5R1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I202963 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 570.5 +0.6 626 6.6 HDGF PKNOX1 CLOCK ARNT ARID4B SIN3A YBX1 ZBTB7B ZNF766 ZNF143 CYB5R1 BTG2 ZC3H11A KLHL12 LOC100506747 ADIPOR1 ELF3-AS1 PCAT6 KDM5B LOC148709
GH01I202157 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.4 +805.2 805167 8.9 HDGF PKNOX1 SMAD1 ARNT YBX1 YY1 POLR2B ZNF766 CBX5 E2F8 PTPN7 RNPEP KDM5B ENSG00000273478 IPO9 HNRNPA1P59 ELF3-AS1 RPS27P8 IPO9-AS1 CYB5R1
GH01I202956 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.1 +7.6 7597 6.8 HDGF PKNOX1 ARNT SIN3A ZNF2 ZNF213 E2F8 ZNF207 FOS KLF13 ADIPOR1 KLHL12 CYB5R1 LOC100506747 PTPRVP PCAT6 KDM5B LOC148709 GC01M202941
GH01I203860 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.4 -894.3 -894275 2.9 CLOCK ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 SNRPE GC01P203862 GC01P203865 ZC3H11A MDM4 HNRNPA1P59 PPP1R15B ZBED6 PRELP ENSG00000240219
GH01I203005 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.2 -39.7 -39730 3.2 CLOCK ZFP64 DMAP1 IRF4 YY1 E2F8 SP3 NFYC MEF2D GLIS1 LOC100506747 TMEM183A KDM5B ZC3H11A ELF3-AS1 KLHL12 CYB5R1 HNRNPA1P59 PCAT6 RPS27P8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CYB5R1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CYB5R1 gene promoter:

Genomic Locations for CYB5R1 Gene

Genomic Locations for CYB5R1 Gene
chr1:202,961,869-202,967,280
(GRCh38/hg38)
Size:
5,412 bases
Orientation:
Minus strand
chr1:202,930,997-202,936,408
(GRCh37/hg19)

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

Selected DME Specific Peptides for CYB5R1 Gene

Q9UHQ9:
  • LLCGPPPM
  • PNLDKLGY
  • LLFANQTE
  • MIAGGTGITPM
  • EFRGPSGLL
  • GGKMSQYL
  • SPVLLASLGVGL
  • FNIQPNKK
  • GMIAGGTG
  • VIRPYTP
  • DQGYVDLV
  • AGGTGITPMLQ

Post-translational modifications for CYB5R1 Gene

  • Ubiquitination at Lys178, Lys248, and posLast=254254
  • Glycosylation at posLast=214214

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

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 :
  • Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.
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 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:0004128 cytochrome-b5 reductase activity, acting on NAD(P)H TAS --
GO:0005515 protein binding IPI 25416956
GO:0016491 oxidoreductase activity IBA,IEA --
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

miRNA for CYB5R1 Gene

miRTarBase miRNAs that target CYB5R1

Inhibitory RNA Products

No data available for Phenotypes From GWAS Catalog , 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
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
extracellular 5
mitochondrion 5
endoplasmic reticulum 5
plasma membrane 4
nucleus 2
cytosol 2
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Mitochondria (1)
  • Nucleoli (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CYB5R1 Gene

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

(10) 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 62
Isosorbide Mononitrate Approved Pharma 0
Metoclopramide Approved, Investigational Pharma Dopamine receptor antagonist 126
Primaquine Approved Pharma 80

(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

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 from GTEx, Illumina, BioGPS, and CGAP 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, 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.

Evidence on tissue expression from TISSUES for CYB5R1 Gene

  • Lung(4.5)
  • Adrenal gland(4.3)
  • Blood(4.3)
  • Intestine(4.2)
  • Nervous system(3.4)
  • Muscle(2.9)
  • Liver(2.2)
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 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
chimpanzee
(Pan troglodytes)
Mammalia CYB5R1 34
  • 100 (a)
OneToOne
LOC740001 33
  • 99.44 (n)
dog
(Canis familiaris)
Mammalia CYB5R1 34
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cyb5r1 33 16 34
  • 89.4 (n)
cow
(Bos Taurus)
Mammalia CYB5R1 33 34
  • 88.85 (n)
rat
(Rattus norvegicus)
Mammalia Cyb5r1 33
  • 88.74 (n)
oppossum
(Monodelphis domestica)
Mammalia CYB5R1 34
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYB5R1 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488016 33
  • 61.69 (n)
zebrafish
(Danio rerio)
Actinopterygii cyb5r1 33 34
  • 63.05 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5946 34
  • 51 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hpo-19 34
  • 51 (a)
ManyToMany
T05H4.4 34
  • 50 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CBR1 34
  • 35 (a)
ManyToMany
PGA3 34 36
  • 31 (a)
ManyToMany
AIM33 34
  • 29 (a)
ManyToMany
soybean
(Glycine max)
eudicotyledons Gma.8416 33
wheat
(Triticum aestivum)
Liliopsida Ta.5633 33
bread mold
(Neurospora crassa)
Ascomycetes NCU08060 33
  • 55.09 (n)
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 Variation AA Info Type
rs1000341901 -- 202,969,045(-) C/G/T upstream_transcript_variant
rs1000758907 -- 202,968,774(-) A/T upstream_transcript_variant
rs1000826521 -- 202,967,018(-) G/A intron_variant
rs1001107105 -- 202,962,214(-) T/C 3_prime_UTR_variant
rs1003531737 -- 202,966,954(-) G/A 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)

Additional Variant Information 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

Additional Disease Information for CYB5R1

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

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 HF (Proceedings of the National Academy of Sciences of the United States of America 1999) 2 3 4 58
  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 44 58
  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 44 58
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  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 58

Products for CYB5R1 Gene

Sources for CYB5R1 Gene

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