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CYB5R1 Gene

protein-coding   GIFtS: 67
GCID: GC01M202930

Cytochrome B5 Reductase 1

(Previous names: NAD(P)H:quinone oxidoreductase type 3, polypeptide A2)
(Previous symbol: NQO3A2)
  See CYB5R1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cytochrome B5 Reductase 11 2     humb5R22
NQO3A21 2 3 5     NADH-Cytochrome B5 Reductase 12
NAD(P)H:Quinone Oxidoreductase Type 3, Polypeptide A21 2     Humb5R23
EC 1.6.2.23 8     b5R.13
B5R.12 5     NAD(P)H:Quinone Oxidoreductase Type 3 Polypeptide A23
B5R12     CYB5BR15
B5R22     

External Ids:    HGNC: 133971   Entrez Gene: 517062   Ensembl: ENSG000001593487   OMIM: 6083415   UniProtKB: Q9UHQ93   

Export aliases for CYB5R1 gene to outside databases

Previous GC identifers: GC01M198360 GC01M199397 GC01M200219 GC01M199663 GC01M201197 GC01M174096


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for CYB5R1 Gene:
CYB5R1 (cytochrome b5 reductase 1) is a protein-coding gene. Diseases associated with CYB5R1 include methemoglobinemia. GO annotations related to this gene include cytochrome-b5 reductase activity, acting on NAD(P)H. An important paralog of this gene is ENSG00000256407.

UniProtKB/Swiss-Prot: NB5R1_HUMAN, Q9UHQ9
Function: NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol
biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction (By similarity)

Gene Wiki entry for CYB5R1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the CYB5R1 gene promoter:
         SREBP-1c   Lmo2   Nkx2-5   SREBP-1b   CREB   SREBP-1a   deltaCREB   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCYB5R1 promoter sequence
   Search Chromatin IP Primers for CYB5R1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CYB5R1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q32.1   Ensembl cytogenetic band:  1q32.1   HGNC cytogenetic band: 1q32.1

CYB5R1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYB5R1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M202930:  view genomic region     (about GC identifiers)

Start:
202,930,997 bp from pter      End:
202,936,408 bp from pter
Size:
5,412 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NB5R1_HUMAN, Q9UHQ9 (See protein sequence)
Recommended Name: NADH-cytochrome b5 reductase 1  
Size: 305 amino acids; 34095 Da
Cofactor: FAD (By similarity)
Sequence caution: Sequence=AAC72953.1; Type=Erroneous initiation; Sequence=AAI27946.1; Type=Erroneous initiation;
Secondary accessions: A0PK21 B2R8E0 O95329 Q53F73 Q8NCL5 Q9UHJ1

Explore the universe of human proteins at neXtProt for CYB5R1: NX_Q9UHQ9

Explore proteomics data for CYB5R1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys178, Lys248, Lys254
  • Glycosylation2 at Asn214
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CYB5R1 (Q9UHQ9) (see all 12)
     VIRPYTP  FNIQPNKK  GMIAGGTG  LLFANQTE 


    See CYB5R1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_057327.2  
    ENSEMBL proteins: 
     ENSP00000356218   ENSP00000396382  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR017927 Fd_Rdtase_FAD-bd
     IPR008333 OxRdtase_FAD-bd_dom
     IPR001433 OxRdtase_FAD/NAD-bd
     IPR001709 Flavoprot_Pyr_Nucl_cyt_Rdtase
     IPR001834 NADH-Cyt_B5_reductase

    Graphical View of Domain Structure for InterPro Entry Q9UHQ9

    ProtoNet protein and cluster: Q9UHQ9

    4 Blocks protein domains:
    IPB001433 Oxidoreductase FAD/NAD(P)-binding
    IPB001709 Flavoprotein pyridine nucleotide cytochrome reductase signature
    IPB001834 Cytochrome B5 reductase signature
    IPB008333 Oxidoreductase FAD-binding region


    UniProtKB/Swiss-Prot: NB5R1_HUMAN, Q9UHQ9
    Similarity: Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family
    Similarity: Contains 1 FAD-binding FR-type domain


    Find genes that share domains with CYB5R1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NB5R1_HUMAN, Q9UHQ9
    Function: NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol
    biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction (By similarity)
    Catalytic activity: NADH + 2 ferricytochrome b5 = NAD(+) + H(+) + 2 ferrocytochrome b5

         Enzyme Number (IUBMB): EC 1.6.2.21 2

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0004128cytochrome-b5 reductase activity, acting on NAD(P)H IEA--
    GO:0016491oxidoreductase activity ----
         
    Find genes that share ontologies with CYB5R1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CYB5R1:
     Lamellipodia cells 

         1 MGI phenotypic allele for Cyb5r1 (no phenotypes)

    Find genes that share phenotypes with CYB5R1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CYB5R1
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    miRNA
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    hsa-mir-16-5p (MIRT051215)

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    hsa-miR-1207-5p hsa-miR-1248
    SwitchGear 3'UTR luciferase reporter plasmidCYB5R1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NB5R1_HUMAN, Q9UHQ9: Membrane; Single-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum2
    extracellular2
    mitochondrion2
    cytosol1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0016021integral component of membrane IEA--
    GO:0070062extracellular vesicular exosome IDA19199708

    Find genes that share ontologies with CYB5R1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CYB5R1 About    
    See pathways by source

    SuperPathContained pathways About
    1Cytochrome P450 - arranged by substrate type
    cytochrome P4500.74
    2PAK Pathway
    Antioxidant Action of Vitamin-C0.56
    3Amino sugar and nucleotide sugar metabolism
    Amino sugar and nucleotide sugar metabolism


    Find genes that share SuperPaths with CYB5R1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for CYB5R1
        Antioxidant Action of Vitamin-C

    1 BioSystems Pathway for CYB5R1
        cytochrome P450



    1 Kegg Pathway  (Kegg details for CYB5R1):
        Amino sugar and nucleotide sugar metabolism

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CYB5R1
    Interactions:

        Search GeneGlobe Interaction Network for CYB5R1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for CYB5R1 (Q9UHQ92, 3 ENSP000003562184) via UniProtKB, MINT, STRING, and/or I2D (see all 77)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBQLN4Q9NRR52, 3, ENSP000003572924MINT-2873545 I2D: score=3 STRING: ENSP00000357292
    CYC1P085743, ENSP000003171594I2D: score=1 STRING: ENSP00000317159
    CYCSP999993, ENSP000003077864I2D: score=2 STRING: ENSP00000307786
    UBCP0CG483, ENSP000003448184I2D: score=2 STRING: ENSP00000344818
    ACTBP607093I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--
    GO:0016126sterol biosynthetic process IEA--
    GO:0055114oxidation-reduction process ----

    Find genes that share ontologies with CYB5R1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CYB5R1 (NB5R1)

    3 HMDB Compounds for CYB5R1    About this table
    CompoundSynonyms CAS #PubMed Ids
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--

    1 DrugBank Compound for CYB5R1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Flavin-Adenine Dinucleotide-- 146-14-5target--10592235

    1 PharmGKB related drug/compound annotation for CYB5R1 gene    About this table
    Drug/compound PharmGKB Annotation
    metoclopramide



    Find genes that share compounds with CYB5R1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CYB5R1 gene: 
    NM_016243.2  

    Unigene Cluster for CYB5R1:

    Cytochrome b5 reductase 1
    Hs.334832  [show with all ESTs]
    Unigene Representative Sequence: AK123705
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367249(uc001gyt.2 uc010pqe.1) ENST00000497655 ENST00000482572
    ENST00000483915 ENST00000446185 ENST00000473599 ENST00000478009
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate CYB5R1:
    hsa-miR-1207-5p hsa-miR-1248
    SwitchGear 3'UTR luciferase reporter plasmidCYB5R1 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat CYB5R1
      QuantiFast Probe-based Assays in human, mouse, rat CYB5R1

    Additional mRNA sequence: 

    AF087912.1 AF091084.1 AF093822.1 AF125533.1 AF169481.1 AK027319.1 AK074654.1 AK075304.1 
    AK123705.1 AK223416.1 AK295902.1 AK313333.1 AY359026.1 BC000034.2 BC018732.1 BC127945.1 

    14 DOTS entries:

    DT.419724  DT.101984650  DT.100865604  DT.100865606  DT.70103775  DT.121445824  DT.40132740  DT.92067235 
    DT.100809317  DT.100865612  DT.95208754  DT.97847442  DT.100735071  DT.100865608 

    Selected AceView cDNA sequences (see all 344):

    CR618130 BC000034 AI092605 AI741602 CA307420 AI333681 BU679679 BX444698 
    BQ069779 CB216495 AI991656 BX336552 CD369195 AA297201 CR620511 CR617411 
    CR596793 BG251513 BE792285 BG619068 BU727495 AI377228 BX360394 AA573334 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CYB5R1 (see all 10)    About this scheme

    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:                                                                                                                              


    ECgene alternative splicing isoforms for CYB5R1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CYB5R1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACGCTTGGT
    CYB5R1 Expression
    About this image


    CYB5R1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    CYB5R1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CYB5R1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.334832

    UniProtKB/Swiss-Prot: NB5R1_HUMAN, Q9UHQ9
    Tissue specificity: Widely expressed

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYB5R1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CYB5R1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cyb5r11 , 5 cytochrome b5 reductase 11, 5 89.4(n)1
    91.8(a)1
      1 (58.21 cM)5
    720171  NM_028057.21  NP_082333.11 
     1344057815 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004880161 NADH-cytochrome b5 reductase 1-like 61.69(n)
    60.34(a)
      100488016  XM_002939637.2  XP_002939683.2 
    zebrafish
    (Danio rerio)
    Actinopterygii cyb5r11 cytochrome b5 reductase 1 63.05(n)
    62.83(a)
      336553  NM_200189.2  NP_956483.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG59466
    --
    51(a)
    1 → many
    3L(11810083-11815375)
    worm
    (Caenorhabditis elegans)
    Secernentea hpo-196
    T05H4.46
    Protein T05H4.4 (T05H4.4) mRNA, complete cds
    51(a)
    50(a)
    many ↔ many
    many ↔ many
    V(6436608-6437884) WBGene00020268
    V(6438936-6440092) WBGene00020267
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PGA3(YML125C)4 Putative cytochrome b5 reductase, localized to the more   --   13(21699-20761) 854914  NP_013581.1 
    soybean
    (Glycine max)
    eudicotyledons Gma.84162 Glycine max nitrate reductase (BCNR-A) mRNA, partial more 72.27(n)    U13987.1 
    wheat
    (Triticum aestivum)
    Liliopsida Ta.56332 Triticum aestivum transcribed sequence with weak similarity more 68.64(n)    AL826294.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CYB5R1 gene
    ENSG000002564072  CYB5R32  CYB5R22  CYB5RL2  CYB5R42  
    2 SIMAP similar genes for CYB5R1 using alignment to 2 protein entries:     NB5R1_HUMAN (see all proteins):
    CYB5R3    CYB5R2

    Find genes that share paralogs with CYB5R1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CYB5R1 (see all 219)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1463392771,2
    --202930502(+) TACATA/GGCAGA 1 -- int10--------
    rs1814805121,2
    --202930762(+) AAAATG/TTCCCC 1 -- int10--------
    rs1861200161,2
    --202930774(+) CTAATC/GTGTGT 1 -- int10--------
    rs168508121,2
    C,F,H--202930803(+) AGAGCC/TTCCAG 1 -- int18Minor allele frequency- T:0.03NA NS EA WA 680
    rs1418357571,2
    --202930972(+) GATTTA/GGAAAC 1 -- int10--------
    rs1892665171,2
    --202931018(+) ACAGGA/GGCCTC 1 -- ut310--------
    rs413109091,2
    C,F--202931027(+) TCAGCC/TCCATT 1 -- ut311Minor allele frequency- T:0.02NA 120
    rs413139341,2
    C,F--202931121(+) AGAGAG/CACACA 1 -- ut311Minor allele frequency- C:0.06EA 120
    rs1506274921,2
    --202931153(+) ACTCCC/TTTGAG 1 -- ut310--------
    rs1813083631,2
    --202931181(+) CCTCCA/TTTCTT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for CYB5R1 (202930997 - 202936408 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CYB5R1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv4121CNV Loss18451855

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing CYB5R1
    DNA2.0 Custom Variant and Variant Library Synthesis for CYB5R1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608341    OMIM disorders: --

    1 disease for CYB5R1:    
    About MalaCards
    methemoglobinemia

    1 disease from the University of Copenhagen DISEASES database for CYB5R1:
    Methemoglobinemia

    Find genes that share disorders with CYB5R1           About GenesLikeMe

    Genetic Association Database (GAD): CYB5R1
    Human Genome Epidemiology (HuGE) Navigator: CYB5R1 (5 documents)

    Export disorders for CYB5R1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CYB5R1 gene, integrated from 10 sources (see all 26):
    (articles sorted by number of sources associating them with CYB5R1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a cytochrome b-type NAD(P)H oxidoreductase ubiquitously expressed in human cells. (PubMed id 10611283)1, 2, 3 Zhu H.... Bunn H.F. (Proc. Natl. Acad. Sci. U.S.A. 1999)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    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. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    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. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (DNA Res. 2005)
    6. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)2, 3 Clark H.F.... Gray A.M. (Genome Res. 2003)
    7. Landscape of the PARKIN-dependent ubiquitylome in response to mitochondrial depolarization. (PubMed id 23503661)1 Sarraf S.A....Harper J.W. (Nature 2013)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    9. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    10. Global landscape of HIV-human protein complexes. (PubMed id 22190034)1 JAoger S....Krogan N.J. (Nature 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 51706 HGNC: 13397 AceView: NQO3A2 Ensembl:ENSG00000159348 euGenes: HUgn51706
    ECgene: CYB5R1 Kegg: 51706 H-InvDB: CYB5R1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CYB5R1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for CYB5R1 gene:
    Search GeneIP for patents involving CYB5R1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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