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Aliases for CYB5R4 Gene

Aliases for CYB5R4 Gene

  • Cytochrome B5 Reductase 4 2 3
  • NCB5OR 3 4 6
  • N-Terminal Cytochrome B5 And Cytochrome B5 Oxidoreductase Domain-Containing Protein 3 4
  • NADPH Cytochrome B5 Oxidoreductase 2 3
  • Flavohemoprotein B5/B5R 3 4
  • EC 1.6.2.2 4 63
  • Cb5/Cb5R 3 4
  • Cytochrome B-Type NAD(P)H Oxidoreductase 3
  • Flavohemoprotein B5+B5R 3
  • DJ676J13.1 3
  • B5+B5R 4

External Ids for CYB5R4 Gene

Previous Symbols for CYB5R4 Gene

  • NCB5OR

Summaries for CYB5R4 Gene

Entrez Gene Summary for CYB5R4 Gene

  • NCB5OR is a flavohemoprotein that contains functional domains found in both cytochrome b5 (CYB5A; MIM 613218) and CYB5 reductase (CYB5R3; MIM 613213) (Zhu et al., 1999 [PubMed 10611283]).[supplied by OMIM, Jan 2010]

GeneCards Summary for CYB5R4 Gene

CYB5R4 (Cytochrome B5 Reductase 4) is a Protein Coding gene. Diseases associated with CYB5R4 include methemoglobinemia. Among its related pathways are PAK Pathway and Cytochrome P450 - arranged by substrate type. GO annotations related to this gene include heme binding and NAD(P)H oxidase activity. An important paralog of this gene is CYB5R1.

UniProtKB/Swiss-Prot for CYB5R4 Gene

  • NADH-cytochrome b5 reductase involved in endoplasmic reticulum stress response pathway. Plays a critical role in protecting pancreatic beta-cells against oxidant stress, possibly by protecting the cell from excess buildup of reactive oxygen species (ROS). Reduces a variety of substrates in vitro, such as cytochrome c, feericyanide and methemoglobin

Gene Wiki entry for CYB5R4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYB5R4 Gene

Genomics for CYB5R4 Gene

Genomic Location for CYB5R4 Gene

Start:
83,859,643 bp from pter
End:
83,967,424 bp from pter
Size:
107,782 bases
Orientation:
Plus strand

Genomic View for CYB5R4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CYB5R4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYB5R4 Gene

Regulatory Elements for CYB5R4 Gene

Proteins for CYB5R4 Gene

  • Protein details for CYB5R4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7L1T6-NB5R4_HUMAN
    Recommended name:
    Cytochrome b5 reductase 4
    Protein Accession:
    Q7L1T6
    Secondary Accessions:
    • B1AEM2
    • Q5TGI9
    • Q9NUE4
    • Q9UHI9

    Protein attributes for CYB5R4 Gene

    Size:
    521 amino acids
    Molecular mass:
    59474 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF04812.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI19905.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI22326.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CYB5R4 Gene

neXtProt entry for CYB5R4 Gene

Proteomics data for CYB5R4 Gene at MOPED

Selected DME Specific Peptides for CYB5R4 Gene

Post-translational modifications for CYB5R4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYB5R4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains for CYB5R4 Gene

Suggested Antigen Peptide Sequences for CYB5R4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7L1T6

UniProtKB/Swiss-Prot:

NB5R4_HUMAN
Domain:
  • Contains 1 CS domain.:
    • Q7L1T6
  • Contains 1 cytochrome b5 heme-binding domain.:
    • Q7L1T6
  • Contains 1 FAD-binding FR-type domain.:
    • Q7L1T6
Family:
  • Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.:
    • Q7L1T6
genes like me logo Genes that share domains with CYB5R4: view

No data available for Gene Families for CYB5R4 Gene

Function for CYB5R4 Gene

Molecular function for CYB5R4 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=25 mM for O(2); Redox potential: E(0) is -108 mV.;
UniProtKB/Swiss-Prot CatalyticActivity: NADH + 2 ferricytochrome b5 = NAD(+) + H(+) + 2 ferrocytochrome b5
UniProtKB/Swiss-Prot Function: NADH-cytochrome b5 reductase involved in endoplasmic reticulum stress response pathway. Plays a critical role in protecting pancreatic beta-cells against oxidant stress, possibly by protecting the cell from excess buildup of reactive oxygen species (ROS). Reduces a variety of substrates in vitro, such as cytochrome c, feericyanide and methemoglobin

Enzyme Numbers (IUBMB) for CYB5R4 Gene

Gene Ontology (GO) - Molecular Function for CYB5R4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003958 NADPH-hemoprotein reductase activity IEA --
GO:0004128 cytochrome-b5 reductase activity, acting on NAD(P)H IDA 10611283
GO:0005515 protein binding --
GO:0016174 NOT NAD(P)H oxidase activity IDA 15131110
GO:0016491 oxidoreductase activity --
genes like me logo Genes that share ontologies with CYB5R4: view
genes like me logo Genes that share phenotypes with CYB5R4: view

Animal Models for CYB5R4 Gene

MGI Knock Outs for CYB5R4:

miRNA for CYB5R4 Gene

miRTarBase miRNAs that target CYB5R4

No data available for Transcription Factor Targeting and HOMER Transcription for CYB5R4 Gene

Localization for CYB5R4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYB5R4 Gene

Endoplasmic reticulum. Note=Soluble protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CYB5R4 Gene COMPARTMENTS Subcellular localization image for CYB5R4 gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 2
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CYB5R4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 15131110
GO:0048471 perinuclear region of cytoplasm IDA 10611283
genes like me logo Genes that share ontologies with CYB5R4: view

Pathways for CYB5R4 Gene

genes like me logo Genes that share pathways with CYB5R4: view

Pathways by source for CYB5R4 Gene

1 Qiagen pathway for CYB5R4 Gene
1 BioSystems pathway for CYB5R4 Gene

Gene Ontology (GO) - Biological Process for CYB5R4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003032 detection of oxygen NAS 10611283
GO:0006091 generation of precursor metabolites and energy IDA 10611283
GO:0006739 NADP metabolic process IEA --
GO:0006801 superoxide metabolic process IDA 10611283
GO:0030073 insulin secretion ISS --
genes like me logo Genes that share ontologies with CYB5R4: view

Compounds for CYB5R4 Gene

(4) HMDB Compounds for CYB5R4 Gene

Compound Synonyms Cas Number PubMed IDs
FAD
  • 1H-Purin-6-amine flavin dinucleotide
146-14-5
Heme
  • (protoporphyrinato)iron
14875-96-8
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) PharmGKB related drug/compound annotations for CYB5R4 Gene

Drug/compound Annotation
metoclopramide
genes like me logo Genes that share compounds with CYB5R4: view

Transcripts for CYB5R4 Gene

mRNA/cDNA for CYB5R4 Gene

Unigene Clusters for CYB5R4 Gene

Cytochrome b5 reductase 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CYB5R4 Gene

No ASD Table

Relevant External Links for CYB5R4 Gene

GeneLoc Exon Structure for
CYB5R4
ECgene alternative splicing isoforms for
CYB5R4

Expression for CYB5R4 Gene

mRNA expression in normal human tissues for CYB5R4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYB5R4 Gene

This gene is overexpressed in Whole Blood (11.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CYB5R4 Gene

SOURCE GeneReport for Unigene cluster for CYB5R4 Gene Hs.5741

mRNA Expression by UniProt/SwissProt for CYB5R4 Gene

Q7L1T6-NB5R4_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expressions with CYB5R4: view

Orthologs for CYB5R4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CYB5R4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CYB5R4 35
  • 99.94 (n)
  • 100 (a)
CYB5R4 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CYB5R4 35
  • 90.96 (n)
  • 87.69 (a)
CYB5R4 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CYB5R4 35
  • 91.97 (n)
  • 89.98 (a)
CYB5R4 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cyb5r4 35
  • 84.42 (n)
  • 81.15 (a)
Cyb5r4 16
Cyb5r4 36
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CYB5R4 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYB5R4 36
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cyb5r4 35
  • 85.71 (n)
  • 83.65 (a)
chicken
(Gallus gallus)
Aves CYB5R4 35
  • 70.46 (n)
  • 66.86 (a)
CYB5R4 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CYB5R4 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cyb5r4 35
  • 65.22 (n)
  • 56.31 (a)
zebrafish
(Danio rerio)
Actinopterygii cyb5r4 35
  • 56.9 (n)
  • 52.79 (a)
cyb5r4 36
  • 51 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011314 35
  • 44.07 (n)
  • 37.58 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11257 35
  • 44.98 (n)
  • 34.53 (a)
CG11257 36
  • 31 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_Y52B11A.3 35
  • 46.21 (n)
  • 35.24 (a)
Y52B11A.3 36
  • 30 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AIM33 36
  • 21 (a)
ManyToMany
CBR1 36
  • 27 (a)
ManyToMany
IRC21 38
PGA3 36
  • 21 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
OneToOne
Species with no ortholog for CYB5R4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 CYB5R4 Gene

ENSEMBL:
Gene Tree for CYB5R4 (if available)
TreeFam:
Gene Tree for CYB5R4 (if available)

Paralogs for CYB5R4 Gene

Paralogs for CYB5R4 Gene

Selected SIMAP similar genes for CYB5R4 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CYB5R4: view

Variants for CYB5R4 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CYB5R4 Gene

Q7L1T6-NB5R4_HUMAN
Variants Arg-187 and Arg-223 do not influence the pathogenesis of non-autoimmune diabetes

Sequence variations from dbSNP and Humsavar for CYB5R4 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs188579 -- 83,932,432(+) ATCCA(A/G)AAGGT intron-variant
rs215963 -- 83,932,403(-) CATTT(C/G)CTAGA intron-variant
rs215964 -- 83,945,910(+) aagtt(C/G)tgaaa intron-variant
rs215965 -- 83,955,133(-) AAAAA(C/T)GTATA intron-variant
rs965208 -- 83,940,645(-) ACTAC(A/C)CAGGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CYB5R4 Gene

Variant ID Type Subtype PubMed ID
nsv886330 CNV Gain 21882294
nsv830718 CNV Gain+Loss 17160897
esv2669183 CNV Deletion 23128226
nsv830719 CNV Gain 17160897
nsv886331 CNV Gain 21882294

Relevant External Links for CYB5R4 Gene

HapMap Linkage Disequilibrium report
CYB5R4
Human Gene Mutation Database (HGMD)
CYB5R4

Disorders for CYB5R4 Gene

(1) MalaCards Diseases for CYB5R4 Gene

Search for CYB5R4 Gene in MalaCards »

(1) University of Copenhagen DISEASES for CYB5R4 Gene

Relevant External Links for CYB5R4

Genetic Association Database (GAD)
CYB5R4
Human Genome Epidemiology (HuGE) Navigator
CYB5R4
genes like me logo Genes that share disorders with CYB5R4: view

No data available for UniProtKB/Swiss-Prot for CYB5R4 Gene

Publications for CYB5R4 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 23
  2. NCB5OR is a novel soluble NAD(P)H reductase localized in the endoplasmic reticulum. (PMID: 15131110) Zhu H. … Bunn H.F. (J. Biol. Chem. 2004) 3 4 23
  3. Variation in NCB5OR: studies of relationships to type 2 diabetes, maturity-onset diabetes of the young, and gestational diabetes mellitus. (PMID: 15504981) Andersen G. … Pedersen O. (Diabetes 2004) 3 4 48
  4. 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 48
  5. Study of the individual cytochrome b5 and cytochrome b5 reductase domains of Ncb5or reveals a unique heme pocket and a possible role of the CS domain. (PMID: 20630863) Deng B. … Zhu H. (J. Biol. Chem. 2010) 3 4

Products for CYB5R4 Gene

Sources for CYB5R4 Gene

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