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Aliases for CYB5R4 Gene

Aliases for CYB5R4 Gene

  • Cytochrome B5 Reductase 4 2 3 5
  • 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
  • NCB5OR 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 HGNC Symbols for CYB5R4 Gene

  • NCB5OR

Previous GeneCards Identifiers for CYB5R4 Gene

  • GC06P084627
  • GC06P084569
  • GC06P081798

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 and maturity-onset diabetes of the young. Among its related pathways are Metabolism and PAK Pathway. GO annotations related to this gene include oxidoreductase activity and flavin adenine dinucleotide binding. An important paralog of this gene is CYB5R3.

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

Regulatory Elements for CYB5R4 Gene

Promoters for CYB5R4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CYB5R4 on UCSC Golden Path with GeneCards custom track

Genomic Location for CYB5R4 Gene

Chromosome:
6
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

Genes around CYB5R4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYB5R4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYB5R4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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:

Antibody Products

Domains & Families 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 :
  • Contains 1 CS domain.
  • Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.
Domain:
  • Contains 1 CS domain.
  • Contains 1 cytochrome b5 heme-binding 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 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:0016491 oxidoreductase activity IEA --
GO:0016653 oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor IDA 15131110
GO:0020037 heme binding IEA --
GO:0050660 flavin adenine dinucleotide binding IEA --
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:

Animal Model Products

No data available for Human Phenotype Ontology , Transcription Factor Targets 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 3
cytosol 2
lysosome 1
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for CYB5R4 Gene

Pathways & Interactions for CYB5R4 Gene

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

Pathways by source for CYB5R4 Gene

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

Gene Ontology (GO) - Biological Process for CYB5R4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006801 superoxide metabolic process IDA 10611283
GO:0042593 glucose homeostasis IEA,ISS --
GO:0046677 response to antibiotic IEA,ISS --
genes like me logo Genes that share ontologies with CYB5R4: view

No data available for SIGNOR curated interactions for CYB5R4 Gene

Drugs & Compounds for CYB5R4 Gene

(7) Drugs for CYB5R4 Gene - From: HMDB and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Metoclopramide Approved, Investigational Pharma Dopamine receptor antagonist 102
Primaquine Approved Pharma 64
Rasburicase Approved, Investigational Pharma 25
FAD Approved Pharma 0
heme Pharma Agonist 0

(1) Additional Compounds for CYB5R4 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 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 (x11.4).

Protein differential expression in normal tissues from HIPED for CYB5R4 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (20.8), Platelet (10.4), Tlymphocyte (9.5), Lymph node (9.3), and Monocytes (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with CYB5R4: view

Protein tissue co-expression partners for CYB5R4 Gene

Primer Products

In Situ Assay Products

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 36
  • 84 (a)
OneToOne
CYB5R4 35
  • 90.96 (n)
  • 87.69 (a)
dog
(Canis familiaris)
Mammalia CYB5R4 35
  • 91.97 (n)
  • 89.98 (a)
CYB5R4 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cyb5r4 16
Cyb5r4 36
  • 80 (a)
OneToOne
Cyb5r4 35
  • 84.42 (n)
  • 81.15 (a)
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 36
  • 64 (a)
OneToOne
CYB5R4 35
  • 70.46 (n)
  • 66.86 (a)
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 36
  • 51 (a)
OneToOne
cyb5r4 35
  • 56.9 (n)
  • 52.79 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011314 35
  • 44.07 (n)
  • 37.58 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11257 36
  • 31 (a)
OneToOne
CG11257 35
  • 44.98 (n)
  • 34.53 (a)
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
PGA3 36
  • 21 (a)
ManyToMany
IRC21 38
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

(3) 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
VAR_032323 -
rs141290525 - 83,922,447(+) AAGCC(A/G)TGAGG reference, missense
rs10080628 -, - 83,934,726(+) AGCTA(C/T)CTATT reference, missense
VAR_036240 A breast cancer sample
VAR_036241 A breast cancer sample

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

Variation tolerance for CYB5R4 Gene

Residual Variation Intolerance Score: 46% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.98; 49.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CYB5R4 Gene

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

Disorders for CYB5R4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CYB5R4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
methemoglobinemia
maturity-onset diabetes of the young
  • mason-type diabetes
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CYB5R4

Genetic Association Database (GAD)
CYB5R4
Human Genome Epidemiology (HuGE) Navigator
CYB5R4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CYB5R4
genes like me logo Genes that share disorders with CYB5R4: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 67
  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 23
  3. Natural mutations lead to enhanced proteasomal degradation of human Ncb5or, a novel flavoheme reductase. (PMID: 23523930) KA!lmA!n F.S. … Kereszturi E. (Biochimie 2013) 3
  4. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PMID: 22990118) Woods N.T. … Monteiro A.N. (Sci Signal 2012) 3
  5. Methemoglobin reductase deficiency: novel mutation is associated with a disease phenotype of intermediate severity. (PMID: 22627575) Percy M.J. … Lappin T.R. (J. Pediatr. Hematol. Oncol. 2012) 3

Products for CYB5R4 Gene

Sources for CYB5R4 Gene

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