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Aliases for CYB5R1 Gene

Aliases for CYB5R1 Gene

  • Cytochrome B5 Reductase 1 2 3
  • NQO3A2 3 4 6
  • B5R.1 3 4 6
  • NAD(P)H:Quinone Oxidoreductase Type 3, Polypeptide A2 2 3
  • EC 1.6.2.2 4 63
  • Humb5R2 3 4
  • NAD(P)H:Quinone Oxidoreductase Type 3 Polypeptide A2 4
  • NADH-Cytochrome B5 Reductase 1 3
  • CYB5BR1 6
  • 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. Diseases associated with CYB5R1 include methemoglobinemia. Among its related pathways are PAK Pathway and Amino sugar and nucleotide sugar metabolism. GO annotations related to this gene include 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CYB5R1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for CYB5R1 Gene at MOPED

Post-translational modifications for CYB5R1 Gene

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

Other Protein References for CYB5R1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains 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 :
  • Q9UHQ9
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 IEA --
GO:0005515 protein binding IPI 25416956
GO:0016491 oxidoreductase activity --
genes like me logo Genes that share ontologies with CYB5R1: view

Phenotypes for CYB5R1 Gene

GenomeRNAi human phenotypes for CYB5R1:
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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CYB5R1

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targeting 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
endoplasmic reticulum 2
extracellular 2
mitochondrion 2
cytosol 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CYB5R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 20833797
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome IDA 19199708
genes like me logo Genes that share ontologies with CYB5R1: view

Pathways for CYB5R1 Gene

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

Pathways by source for CYB5R1 Gene

1 Qiagen pathway for CYB5R1 Gene
1 BioSystems pathway for CYB5R1 Gene
1 KEGG pathway for CYB5R1 Gene

Gene Ontology (GO) - Biological Process for CYB5R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0016126 sterol biosynthetic process IEA --
GO:0055114 oxidation-reduction process IEA --
GO:1903955 positive regulation of protein targeting to mitochondrion IMP 24270810
genes like me logo Genes that share ontologies with CYB5R1: view

Compounds for CYB5R1 Gene

(3) HMDB Compounds for CYB5R1 Gene

Compound Synonyms Cas Number PubMed IDs
FAD
  • 1H-Purin-6-amine flavin dinucleotide
146-14-5
NAD
  • 3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate
53-84-9
NADH
  • 1,4-Dihydronicotinamide adenine dinucleotide
58-68-4

(1) Drugbank Compounds for CYB5R1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Flavin-Adenine Dinucleotide
146-14-5 target

(1) PharmGKB related drug/compound annotations for CYB5R1 Gene

Drug/compound Annotation
metoclopramide
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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CYB5R1

Primer 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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Muscle - Skeletal (9.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CYB5R1 Gene

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 expressions with CYB5R1: view

In Situ Assay Products

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 36
  • 100 (a)
OneToOne
LOC740001 35
  • 99.44 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia CYB5R1 35
  • 88.85 (n)
  • 90.16 (a)
CYB5R1 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CYB5R1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cyb5r1 35
  • 89.4 (n)
  • 91.8 (a)
Cyb5r1 16
Cyb5r1 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CYB5R1 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYB5R1 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cyb5r1 35
  • 88.74 (n)
  • 91.15 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488016 35
  • 61.69 (n)
  • 60.34 (a)
zebrafish
(Danio rerio)
Actinopterygii cyb5r1 35
  • 63.05 (n)
  • 62.83 (a)
cyb5r1 36
  • 61 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5946 36
  • 51 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hpo-19 36
  • 51 (a)
ManyToMany
T05H4.4 36
  • 50 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AIM33 36
  • 29 (a)
ManyToMany
CBR1 36
  • 35 (a)
ManyToMany
PGA3 36
  • 31 (a)
ManyToMany
PGA3 38
soybean
(Glycine max)
eudicotyledons Gma.8416 35
wheat
(Triticum aestivum)
Liliopsida Ta.5633 35
bread mold
(Neurospora crassa)
Ascomycetes NCU08060 35
  • 55.09 (n)
  • 46.86 (a)
Species with no ortholog for CYB5R1:
  • 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

Selected 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 MAF
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 synonymous-codon, reference
rs1418445 -- 202,964,864(+) ATATA(C/G)TTGAG intron-variant
rs2232842 - 202,966,783(-) CCCCA(A/G)TGAAA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CYB5R1 Gene

Variant ID Type Subtype PubMed ID
nsv4121 CNV Loss 18451855

Relevant External Links for CYB5R1 Gene

HapMap Linkage Disequilibrium report
CYB5R1

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

Disorders for CYB5R1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for CYB5R1 Gene including...

Search for CYB5R1 Gene in MalaCards »

(1) University of Copenhagen DISEASES for CYB5R1 Gene

Relevant External Links for CYB5R1

Genetic Association Database (GAD)
CYB5R1
Human Genome Epidemiology (HuGE) Navigator
CYB5R1
genes like me logo Genes that share disorders with CYB5R1: view

No data available for UniProtKB/Swiss-Prot 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
  2. 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
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 2 4
  5. 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 48

Products for CYB5R1 Gene

Sources for CYB5R1 Gene

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