Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



CYB5A Gene

protein-coding   GIFtS: 60
GCID: GC18M071920

Cytochrome B5 Type A (Microsomal)

(Previous names: cytochrome b-5, cytochrome b5 (microsomal))
(Previous symbol: CYB5)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Cytochrome B5 Type A (Microsomal)1 2     Cytochrome B5 (Microsomal)1
CYB51 2 3     Cytochrome B52
MCB52 3 5     Type 1 Cyt-B52
Cytochrome B-51     Microsomal Cytochrome B5 Type A3

External Ids:    HGNC: 25701   Entrez Gene: 15282   Ensembl: ENSG000001663477   OMIM: 6132185   UniProtKB: P001673   

Export aliases for CYB5A gene to outside databases

Previous GC identifers: GC18M070072 GC18M068652


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for CYB5A Gene:
The protein encoded by this gene is a membrane-bound cytochrome that reduces ferric hemoglobin (methemoglobin) to
ferrous hemoglobin, which is required for stearyl-CoA-desaturase activity. Defects in this gene are a cause of
type IV hereditary methemoglobinemia. Three transcript variants encoding different isoforms have been found for
this gene. (provided by RefSeq, Jun 2010)

GeneCards Summary for CYB5A Gene:
CYB5A (cytochrome b5 type A (microsomal)) is a protein-coding gene. Diseases associated with CYB5A include methemoglobinemia, type iv, and methemoglobinemia, type i. GO annotations related to this gene include cytochrome-c oxidase activity and enzyme binding. An important paralog of this gene is CYB5B.

UniProtKB/Swiss-Prot: CYB5_HUMAN, P00167
Function: Cytochrome b5 is a membrane bound hemoprotein which function as an electron carrier for several membrane
bound oxygenases

Gene Wiki entry for CYB5A (Cytochrome b5, type A) 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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000018.10  NC_018929.2  NT_010966.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the CYB5A gene promoter:
         STAT1   Bach2   NF-YA   CUTL1   NF-YB   CBF-B   CBF-A   CP1A   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCYB5A promoter sequence
   Search Chromatin IP Primers for CYB5A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CYB5A


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

Entrez Gene cytogenetic band: 18q23   Ensembl cytogenetic band:  18q22.3   HGNC cytogenetic band: 18q23

CYB5A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYB5A gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M071920:  view genomic region     (about GC identifiers)

Start:
71,920,527 bp from pter      End:
71,959,251 bp from pter
Size:
38,725 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: CYB5_HUMAN, P00167 (See protein sequence)
Recommended Name: Cytochrome b5  
Size: 134 amino acids; 15330 Da
Sequence caution: Sequence=AAA63169.1; Type=Erroneous gene model prediction;
1 PDB 3D structure from and Proteopedia for CYB5A:
2I96 (3D)    
Secondary accessions: A8MV91 F8WEU4 Q6IB14
Alternative splicing: 3 isoforms:  P00167-1   P00167-2   P00167-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CYB5A: NX_P00167

Explore proteomics data for CYB5A at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys10, Lys39
  • Modification sites at PhosphoSitePlus

  • See CYB5A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001177736.1  NP_001905.1  NP_683725.1  

    ENSEMBL proteins: 
     ENSP00000299438   ENSP00000341625   ENSP00000436461   ENSP00000381011  
    Reactome Protein details: P00167

    CYB5A Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for CYB5A
    OriGene Protein Over-expression Lysate for CYB5A
    OriGene MassSpec for CYB5A
    OriGene Custom Protein Services for CYB5A
    GenScript Custom Purified and Recombinant Proteins Services for CYB5A
    Novus Biologicals CYB5A Proteins
    Novus Biologicals CYB5A Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for CYB5A
    Cloud-Clone Corp. Proteins for CYB5A

    CYB5A Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of CYB5A
    Browse R&D Systems for Antibodies
    OriGene Antibodies for CYB5A
    OriGene Custom Antibody Services for CYB5A
    Novus Biologicals CYB5A Antibodies
    Abcam antibodies for CYB5A
    Cloud-Clone Corp. Antibodies for CYB5A
    ThermoFisher Antibodies for CYB5A
    LSBio Antibodies in human, mouse, rat for CYB5A

    CYB5A Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CYB5A
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CYB5A
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CYB5A
    Cloud-Clone Corp. CLIAs for CYB5A


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    CYB: Cytochrome b genes

    2 InterPro protein domains:
     IPR018506 Cyt_B5_heme-BS
     IPR001199 Cyt_B5-like_heme/steroid-bd

    Graphical View of Domain Structure for InterPro Entry P00167

    ProtoNet protein and cluster: P00167

    1 Blocks protein domain: IPB001199 Cytochrome b5

    UniProtKB/Swiss-Prot: CYB5_HUMAN, P00167
    Similarity: Belongs to the cytochrome b5 family
    Similarity: Contains 1 cytochrome b5 heme-binding domain


    CYB5A for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CYB5_HUMAN, P00167
    Function: Cytochrome b5 is a membrane bound hemoprotein which function as an electron carrier for several membrane
    bound oxygenases

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004033aldo-keto reductase (NADP) activity TAS--
    GO:0004129cytochrome-c oxidase activity TAS1712589
    GO:0019899enzyme binding IPI15680923
    GO:0020037heme binding IEA--
    GO:0046872metal ion binding IEA--
         
    CYB5A for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cyb5):
     homeostasis/metabolism  liver/biliary system 

    CYB5A for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CYB5A
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CYB5A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CYB5A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CYB5A

    miRNA
    Products:
        
    miRTarBase miRNAs that target CYB5A:
    hsa-mir-124-3p (MIRT023043)

    Block miRNA regulation of human, mouse, rat CYB5A using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate CYB5A:
    hsa-miR-124 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidCYB5A 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CYB5A
    Predesigned siRNA for gene silencing in human, mouse, rat CYB5A

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CYB5A

    Clone
    Products:
         
    OriGene clones in human, mouse for CYB5A (see all 15)
    OriGene ORF clones in mouse, rat for CYB5A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): CYB5A (NM_001914)
    Sino Biological Human cDNA Clone for CYB5A
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CYB5A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CYB5A

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CYB5A
    Browse ESI BIO Cell Lines and PureStem Progenitors for CYB5A 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYB5A


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    CYB5_HUMAN, P00167: Isoform 1: Endoplasmic reticulum membrane; Single-pass membrane protein; Cytoplasmic side.
    Microsome membrane; Single-pass membrane protein; Cytoplasmic side
    CYB5_HUMAN, P00167: Isoform 2: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    mitochondrion4
    cytosol3
    nucleus2
    peroxisome2
    plasma membrane2
    golgi apparatus1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005741mitochondrial outer membrane TAS--
    GO:0005783endoplasmic reticulum ----
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016020membrane IDA--

    CYB5A for ontologies           About GeneDecksing


    (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).
    About This Section

    TryGeneCards Plus

    SuperPaths for CYB5A About    
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Defective BTD causes biotidinase deficiency
    Defective BTD causes biotidinase deficiency1.00
    Metabolism of vitamins and cofactors1.00
    Defective AMN causes hereditary megaloblastic anemia 11.00
    Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC1.00
    Defective MMAA causes methylmalonic aciduria type cblA1.00
    Defective MUT causes methylmalonic aciduria mut type1.00
    Defective CD320 causes methylmalonic aciduria1.00
    Defects in cobalamin (B12) metabolism1.00
    2Cytochrome P450 - arranged by substrate type
    cytochrome P4500.74
    3Metabolism
    Metabolism0.38
    4Methylene Blue Pathway, Pharmacodynamics
    Methylene Blue Pathway, Pharmacodynamics
    5Disease
    Disease

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for CYB5A
        cytochrome P450


    1 Reactome Pathway for CYB5A
        Vitamin C (ascorbate) metabolism

    1 PharmGKB Pathway for CYB5A
        Methylene Blue Pathway, Pharmacodynamics


    CYB5A for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CYB5A
    Interactions:

        GeneGlobe Interaction Network for CYB5A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CYB5A (P001673 ENSP000003416254) via UniProtKB, MINT, STRING, and/or I2D (see all 53)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CYB5R3P003873, ENSP000003384614I2D: score=2 STRING: ENSP00000338461
    CYP17A1P050933, ENSP000003589034I2D: score=2 STRING: ENSP00000358903
    SCDO007673, ENSP000003593804I2D: score=1 STRING: ENSP00000359380
    CYCSP999993, ENSP000003077864I2D: score=3 STRING: ENSP00000307786
    CYP1A1P047983, ENSP000003690504I2D: score=1 STRING: ENSP00000369050
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0019852L-ascorbic acid metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--
    GO:0046686response to cadmium ion IEA--

    CYB5A for ontologies           About GeneDecksing



    (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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CYB5A (CYB5)

    1 HMDB Compound for CYB5A    About this table
    CompoundSynonyms CAS #PubMed Ids
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--

    2 DrugBank Compounds for CYB5A    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Dimethyl Propionate Ester Heme-- --target--17139284 17016423 10592235
    Heme-- --target--10592235

    Selected Novoseek inferred chemical compound relationships for CYB5A gene (see all 101)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    benzamidoxime 85.2 4 9351903 (1), 16118330 (1), 15302896 (1), 16973608 (1)
    benzphetamine 83.8 7 7559586 (2), 16182240 (2), 2241682 (1), 2005876 (1) (see all 5)
    17-hydroxypregnenolone 78.9 1 8948449 (1)
    sulfamethoxazole hydroxylamine 75.4 5 15302896 (2), 15862605 (1), 19997042 (1)
    guanoxabenz 71.9 1 9351903 (1)
    nadph 71.5 35 1312930 (4), 2121410 (2), 7926597 (1), 9145912 (1) (see all 26)
    ferric ammonium sulfate 71.3 3 8554320 (2), 8660685 (1)
    3beta-hydroxysteroid 69.7 9 19036885 (1), 11155097 (1), 9625451 (1), 10487714 (1) (see all 9)
    5,16-androstadien-3beta-ol 68.5 1 7578007 (1)
    dimethylnitrosamine 68.1 3 1685398 (1), 8694855 (1), 1444447 (1)



    CYB5A for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for CYB5A gene (3 alternative transcripts): 
    NM_001190807.2  NM_001914.3  NM_148923.3  

    Unigene Cluster for CYB5A:

    Cytochrome b5 type A (microsomal)
    Hs.465413  [show with all ESTs]
    Unigene Representative Sequence: AB209617
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000580678 ENST00000299438 ENST00000340533(uc002llh.3 uc002lli.3 uc021ull.1)
    ENST00000494131 ENST00000583418 ENST00000397914 ENST00000579064
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CYB5A using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate CYB5A:
    hsa-miR-124 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidCYB5A 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CYB5A
    Predesigned siRNA for gene silencing in human, mouse, rat CYB5A
    Clone
    Products:
         
    OriGene clones in human, mouse for CYB5A (see all 15)
    OriGene ORF clones in mouse, rat for CYB5A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): CYB5A (NM_001914)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CYB5A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CYB5A
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CYB5A
    OriGene qSTAR qPCR primer pairs in human, mouse for CYB5A
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CYB5A
      QuantiTect SYBR Green Assays in human, mouse, rat CYB5A
      QuantiFast Probe-based Assays in human, mouse, rat CYB5A

    Additional mRNA sequence: 

    AB209617.1 AK026310.1 BC015182.1 CR456990.1 M22865.1 M60174.1 S76422.1 

    12 DOTS entries:

    DT.456278  DT.100817242  DT.100817251  DT.100817240  DT.95146350  DT.92451482  DT.100739002  DT.120801034 
    DT.100781541  DT.75146295  DT.91943107  DT.92005836 

    Selected AceView cDNA sequences (see all 279):

    CA771471 N40804 BU685608 AL598994 AI361362 N69979 BM712706 BU168315 
    CB161829 AI149500 S76422 N23234 BM978328 AI720791 AA345464 AI360059 
    BI826190 BX503982 NM_148923 AA424178 BG209172 BP343725 AA740779 BM975097 

    GeneLoc Exon Structure


    (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)
    About This Section

    TryGeneCards Plus

    CYB5A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATCTTTTAAA
    CYB5A Expression
    About this image


    CYB5A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 14) fully expand
     
     Lung (Respiratory System)
             Alveolar type II cells
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Colon (Gastrointestinal Tract)
     
     Kidney (Urinary System)
    CYB5A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CYB5A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.465413
        Custom PCR Arrays for CYB5A
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for CYB5A
    OriGene qSTAR qPCR primer pairs in human, mouse for CYB5A
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CYB5A
    QuantiTect SYBR Green Assays in human, mouse, rat CYB5A
    QuantiFast Probe-based Assays in human, mouse, rat CYB5A
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYB5A

    (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)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CYB5A gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cyb51 , 5 cytochrome b-51, 5 86.32(n)1
    87.31(a)1
      18 (57.53 cM)5
    1096721  NM_025797.31  NP_080073.11 
     848513385 
    chicken
    (Gallus gallus)
    Aves CYB5A1 cytochrome b5 type A (microsomal) 76.61(n)
    79.03(a)
      414798  NM_001001748.2  NP_001001748.1 
    lizard
    (Anolis carolinensis)
    Reptilia CYB5A6
    cytochrome b5 type A (microsomal)
    68(a)
    1 ↔ 1
    4(49035787-49056168)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia 1377133182   -- 75.36(n)    137713318 
    zebrafish
    (Danio rerio)
    Actinopterygii CD283941.12   -- 71.54(n)    CD283941.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cyt-b51 Cytochrome b5 54.69(n)
    47.66(a)
      35688  NM_136450.4  NP_610294.1 
    worm
    (Caenorhabditis elegans)
    Secernentea cytb-5.11 cytb-5.1 53.49(n)
    50(a)
      181510  NM_077934.6  NP_510335.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CYB56
    Cytochrome b5, involved in the sterol and lipid bi...
    30(a)
    1 → many
    XIV(416940-417302) YNL111C
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CB5-E1 CB5-E 54.02(n)
    44.83(a)
      835438  NM_124736.3  NP_200168.1 
    rice
    (Oryza sativa)
    Liliopsida Os10g05182001 Os10g0518200 58.44(n)
    50.62(a)
      4349127  NM_001071608.2  NP_001065073.2 


    ENSEMBL Gene Tree for CYB5A (if available)
    TreeFam Gene Tree for CYB5A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for CYB5A gene
    CYB5B2  
    7 SIMAP similar genes for CYB5A using alignment to 2 protein entries:     CYB5_HUMAN (see all proteins):
    CYB5    DKFZp686M0619    CYB5B    CYB5R4    FA2H    FADS1
    FADS2P1

    CYB5A for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for CYB5A
    PGOHUM00000248114 PGOHUM00000262895 PGOHUM00000256891 PGOHUM00000241014


    (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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for CYB5A (see all 1014)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs99606651,2
    C,A,H--71773666(+) GTAGCT/CGGGAT 3 -- ds50017Minor allele frequency- C:0.07NA WA 14
    rs1919789161,2
    --71773669(+) GCCGGA/GATTAC 3 -- ds50010--------
    rs17908691,2
    C,A,H--71773690(+) CACTAT/CGCCCT 3 -- ds50018Minor allele frequency- C:0.07NA WA CSA 15
    rs1418876701,2
    --71773832(+) CCAGCC/TGCTAC 3 -- ds50010--------
    rs17885681,2
    C,F,A--71773865(-) ATTGTT/CCTACT 3 -- ds500110Minor allele frequency- C:0.07WA NA CSA EA 372
    rs1818518751,2
    --71773891(+) AACTAC/TAATTT 3 -- ds50010--------
    rs747315801,2
    C--71773948(+) ATACAA/GTACAT 3 -- ds50010--------
    rs17908701,2
    C,F,O,H--71773964(+) CTCAAT/CGAGAT 3 -- ds500131Minor allele frequency- C:0.12MN EA NA NS WA 3466
    rs178041591,2
    C,F,H--71774008(+) TCCCGC/AACCTC 3 -- ds500128Minor allele frequency- A:0.13NA NS EA CSA WA 3326
    rs1506433331,2
    C--71774102(+) TTATAC/TACCAA 3 -- ds50010--------

    HapMap Linkage Disequilibrium report for CYB5A (71920527 - 71959251 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for CYB5A:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2717341CNV Deletion23290073
    nsv2356CNV Insertion18451855
    nsv519101CNV Loss19592680
    nsv909911CNV Gain21882294

    Human Gene Mutation Database (HGMD): CYB5A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CYB5A
    DNA2.0 Custom Variant and Variant Library Synthesis for CYB5A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 613218   
    OMIM disorders: 250790  
    UniProtKB/Swiss-Prot: CYB5_HUMAN, P00167
  • Methemoglobinemia CYB5A-related (METHB-CYB5A) [MIM:250790]: A form of methemoglobinemia, a hematologic
    disease characterized by the presence of excessive amounts of methemoglobin in blood cells, resulting in
    decreased oxygen carrying capacity of the blood, cyanosis and hypoxia. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • Selected diseases for CYB5A (see all 26):    
    About MalaCards
    methemoglobinemia, type iv    methemoglobinemia, type i    methemoglobinemia    46xy sex reversal 8
    ariboflavinosis    congenital methemoglobinemia    antley-bixler syndrome    cushing's syndrome
    neuronal ceroid lipofuscinosis    vaccinia    intellectual disability    adenoma
    intrahepatic cholangiocarcinoma    cholangiocarcinoma    obesity    cerebritis
    hepatocellular carcinoma    hypoxia    neuronitis    alzheimer's disease

    1 disease from the University of Copenhagen DISEASES database for CYB5A:
    Methemoglobinemia

    CYB5A for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for CYB5A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    methemoglobinemia hereditary 75.8 1 10855391 (1)
    adenoma adrenocortical 45 6 9625451 (3), 8496319 (2), 8137519 (1)
    cushing syndrome 21.9 7 8496319 (3), 9625451 (3), 8137519 (1)
    tumors 3.37 4 8496319 (1), 9212475 (1), 16645950 (1)
    shock 0 2 17644064 (1), 19161326 (1)
    adenoma 0 10 8496319 (2), 9625451 (2), 8137519 (1)


    Export disorders for CYB5A 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)
    About This Section

    TryGeneCards Plus

    PubMed articles for CYB5A gene, integrated from 10 sources (see all 366):
    (articles sorted by number of sources associating them with CYB5A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    2. The isolation and characterization of the human cytochrome b5 gene. (PubMed id 7733981)1, 2 Li X.R.... Steggles A.W. (Biochem. Biophys. Res. Commun. 1995)
    3. The human liver and reticulocyte cytochrome b5 mRNAs are products from a single gene. (PubMed id 1712589)1, 2 Giordano S.J. and Steggles A.W. (Biochem. Biophys. Res. Commun. 1991)
    4. Chromosomal localization of a cytochrome b5 gene to human chromosome 18 and a cytochrome b5 pseudogene to the X chromosome. (PubMed id 1840560)1, 3 Shephard E.A....Phillips I.R. (Genomics 1991)
    5. Structure of cytochrome b5 and its topology in the microsomal membrane. (PubMed id 2752049)1, 2 Ozols J. (Biochim. Biophys. Acta 1989)
    6. The complete nucleotide sequence of human liver cytochrome b5 mRNA. (PubMed id 3178851)1, 2 Yoo M. and Steggles A.W. (Biochem. Biophys. Res. Commun. 1988)
    7. Amino acid sequences of cytochrome b5 from human, porcine, and bovine erythrocytes and comparison with liver microsomal cytochrome b5. (PubMed id 4030743)1, 2 Abe K.... Sugita Y. (J. Biochem. 1985)
    8. Structural studies of cytochrome b5. 3. Sequential studies on human liver cytochrome b5. (PubMed id 4770377)1, 2 Rashid M.A.... Tsugita A. (J. Biochem. 1973)
    9. Cytochrome b5 from a normal human liver. Isolation and the partial amino acid sequence. (PubMed id 5062820)1, 2 Ozols J. (J. Biol. Chem. 1972)
    10. Amino acid sequences of tryptic peptides of cytochromes b5 from microsomes of human, monkey, porcine, and chicken liver. (PubMed id 4993957)1, 2 Nobrega F.G. and Ozols J. (J. Biol. Chem. 1971)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    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)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 1528 HGNC: 2570 AceView: CYB5 Ensembl:ENSG00000166347 euGenes: HUgn1528
    ECgene: CYB5A H-InvDB: CYB5A

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (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

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for CYB5A Pharmacogenomics, SNPs, Pathways

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

    TryGeneCards Plus
    Patent Information for CYB5A gene:
    Search GeneIP for patents involving CYB5A

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     EMD Millipore Mono- and Polyclonal Antibodies for the study of CYB5A
     Browse Small Molecules at EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for CYB5A   OriGene RNAi products in human, mouse, rat for CYB5A  
     OriGene qPCR primer pairs and template standards for CYB5A   OriGene Protein Over-expression Lysate for CYB5A  
     OriGene MassSpec something-or-other for CYB5A   OriGene clones in human, mouse for CYB5A  
     OriGene qSTAR qPCR primer pairs in human, mouse for CYB5A   OriGene Purified Protein for CYB5A  
     OriGene ORF clones in mouse, rat for CYB5A   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for CYB5A   OriGene Custom Protein Services for CYB5A  

     
     
     Block miRNA regulation of human, mouse, rat CYB5A using miScript Target Protectors SeqTarget long-range PCR primers for resequencing CYB5A
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CYB5A Predesigned siRNA for gene silencing in human, mouse, rat CYB5A
     QuantiFast Probe-based Assays in human, mouse, rat CYB5A QuantiTect SYBR Green Assays in human, mouse, rat CYB5A
     Custom PCR Arrays for CYB5A Search Chromatin IP Primers for CYB5A
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CYB5A  GeneGlobe Interaction Network for CYB5A
     Regulatory tfbs in CYB5A promoter
     GenScript Custom Purified and Recombinant Proteins Services for CYB5A GenScript cDNA clones with any tag delivered in your preferred vector for CYB5A
     GenScript Custom Assay Services for CYB5A GenScript Custom overexpressing Cell Line Services for CYB5A
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for CYB5A (CYB5)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for CYB5A
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     CYB5A antibodies
     CYB5A proteins
     CYB5A lysates
     Antibodies for CYB5A
     See all of Abcam's Antibodies, Kits and Proteins for CYB5A
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for CYB5A
     Proteins for CYB5A
     Antibodies for CYB5A
     ELISAs for CYB5A
     CLIAs for CYB5A



     Browse ESI BIO Cell Lines and PureStem Progenitors for CYB5A
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYB5A
     SwitchGear 3'UTR luciferase reporter plasmids for CYB5A
     SwitchGear Promoter luciferase reporter plasmids for CYB5A
     ThermoFisher Antibodies for CYB5A
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CYB5A
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CYB5A
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CYB5A
     LSBio Antibodies in human, mouse, rat for CYB5A
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      CYB5A gene at Home site.
    Version: 3.12.166 28 Aug 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4