My NCBISign In

Display Settings:

Format

Send to:

Choose Destination

    CYB5A cytochrome b5 type A (microsomal) [ Homo sapiens ]

    Gene ID: 1528, updated on 11-May-2012
    Help top of page

    Summary

    Official Symbol
    CYB5Aprovided by HGNC
    Official Full Name
    cytochrome b5 type A (microsomal)provided by HGNC
    Primary source
    HGNC:2570
    See related
    Ensembl:ENSG00000166347; HPRD:08941; MIM:613218; Vega:OTTHUMG00000132843
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CYB5; MCB5
    Summary
    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]
    Help top of page

    Genomic context

    Location :
    18q23
    Sequence :
    Chromosome: 18; NC_000018.9 (71920527..71959251, complement)
    See CYB5A in Epigenomics, MapViewer

    Chromosome 18 - NC_000018.9Genomic Context describing neighboring genes Neighboring gene F-box protein 15 Neighboring gene translocase of inner mitochondrial membrane 21 homolog (yeast) Neighboring gene chromosome 18 open reading frame 63 Neighboring gene FBR-MuSV-associated ubiquitously expressed (fox derived) pseudogene 1

    Help top of page

    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
    Helptop of page

    Bibliography

    Related articles in PubMed

    1. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    2. The interaction between ubiquitin C-terminal hydrolase 37 and glucose-regulated protein 78 in hepatocellular carcinoma. Fang Y, et al. Mol Cell Biochem, 2012 Jan. PMID 21800051.
    3. Human adrenal cells that express both 3β-hydroxysteroid dehydrogenase type 2 (HSD3B2) and cytochrome b5 (CYB5A) contribute to adrenal androstenedione production. Nakamura Y, et al. J Steroid Biochem Mol Biol, 2011 Feb. PMID 21185375.
    4. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.
    5. Nitric-oxide dioxygenase function of human cytoglobin with cellular reductants and in rat hepatocytes. Gardner AM, et al. J Biol Chem, 2010 Jul 30. PMID 20511233.

    See all (47) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Human adrenal cells that express both 3beta-hydroxysteroid dehydrogenase type 2 (HSD3B2) and cytochrome b5 (CYB5A) contribute to adrenal androstenedione production
      Title: Human adrenal cells that express both 3β-hydroxysteroid dehydrogenase type 2 (HSD3B2) and cytochrome b5 (CYB5A) contribute to adrenal androstenedione production.
    2. Cygb has a nitric-oxide dioxygenase function and ascorbate and cytochrome b(5) have roles as reductants
      Title: Nitric-oxide dioxygenase function of human cytoglobin with cellular reductants and in rat hepatocytes.
    3. We demonstrated 17,20-lyase deficiency due to an aberrant CytB5.
      Title: Isolated 17,20-lyase deficiency due to the cytochrome b5 mutation W27X.
    4. novel cSNPs associated with significantly altered protein expression and/or hydroxylamine reduction activities, but only minimally impact overall observed phenotypic variability
      Title: Cytochrome b5 and NADH cytochrome b5 reductase: genotype-phenotype correlations for hydroxylamine reduction.
    5. Cytochrome b(5) rather than O(2)(*-) plays a major role in the activation of IDO in human cells.
      Title: Cytochrome b5, not superoxide anion radical, is a major reductant of indoleamine 2,3-dioxygenase in human cells.
    6. The recombinant fused enzymes CYP3A4-truncated (t)-P450 reductase-t-b5 (3RB) and CYP3A4-t-b5-t-P450 reductase (3BR) in yeast microsomes showed a higher specific activity in 6beta-hydroxylation of testosterone than did the reconstitution premixes.
      Title: Molecular characterization of specifically active recombinant fused enzymes consisting of CYP3A4, NADPH-cytochrome P450 oxidoreductase, and cytochrome b5.
    7. These data indicate that a naturally occurring variant in cyt b5, T60A, leads to modestly altered affinity for hydroxylamine substrates and dramatically reduced cyt b5 expression.
      Title: Discovery and characterization of a cytochrome b5 variant in humans with impaired hydroxylamine reduction capacity.
    8. CYP2E1-b(5) complex model was constructed, leading to improved insights into the protein interaction.
      Title: Identification of the interactions between cytochrome P450 2E1 and cytochrome b5 by mass spectrometry and site-directed mutagenesis.
    9. Data suggest that cytochrome b5 and phosphorylation enhance 17,20 lyase activity independently of each other, probably by increasing the interaction between P450c17 and NADPH-cytochrome P450 oxidoreductase.
      Title: Regulation of 17,20 lyase activity by cytochrome b5 and by serine phosphorylation of P450c17.
    10. Colocalization of CytB5 and P450c17 strongly supports the view that CytB5 plays an important role in the regulation of the androgen biosynthetic pathway in the fetal and adult human.
      Title: Colocalization of P450c17 and cytochrome b5 in androgen-synthesizing tissues of the human.
    Submit: New GeneRIF Correction See all (14)
    Help top of page

    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Methemoglobinemia, type IV

    Help top of page

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P00167 P00387 CYB5R3    HPRD  PubMed  
    P00167 P99999 CYCS    HPRD  PubMed  
    P00167 P05093 CYP17A1    HPRD  PubMed  
    P00167 P04798 CYP1A1    HPRD  PubMed  
    P00167 P16435 POR    HPRD  PubMed  
    P00167 O00767 SCD    HPRD  PubMed  
    BioGRID:107908 BioGRID:119922 CYCS    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107908 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107908 BioGRID:119509 UCHL5    BioGRID  PubMed Affinity Capture-MS 
    Help top of page

    General gene information

    Markers

    Genotypes

    Homology

    • Homologs of the CYB5A gene: The CYB5A gene is conserved in chimpanzee, , dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, A.thaliana, and rice.
    • Map Viewer (Mouse, Rat)

    Pathways from BioSystems

    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of vitamins and cofactors, organism-specific biosystem (from REACTOME)
      Metabolism of vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, required in small amounts in the diet. They have distinct biochemical roles, often as coenzymes, and are either not synthesized or synthesized only ...
    • Metabolism of water-soluble vitamins and cofactors, organism-specific biosystem (from REACTOME)
      Metabolism of water-soluble vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, required in small amounts in the diet. They have distinct biochemical roles, often as coenzymes, and are either not synthesized or synthesized only ...
    • Vitamin C (ascorbate) metabolism, organism-specific biosystem (from REACTOME)
      Vitamin C (ascorbate) metabolism, organism-specific biosystemVitamin C (ascorbate) is an antioxidant and a cofactor in reactions catalyzed by Cu+-dependent monooxygenases and Fe++-dependent dioxygenases. Many mammals can synthesize ascorbate de novo; humans an...
    • gamma-linolenate biosynthesis II (animals), organism-specific biosystem (from BIOCYC)
      gamma-linolenate biosynthesis II (animals), organism-specific biosystemGeneral Background : CPD-8117 (GLA) is a polyunsaturated (18:3) ω-6 fatty acid (the 6 refers to the position of the first double bond from the methyl end of the fatty acid). It is synthesized ...
    • gamma-linolenate biosynthesis II (animals), conserved biosystem (from BIOCYC)
      gamma-linolenate biosynthesis II (animals), conserved biosystemGeneral Background |FRAME: CPD-8117| (GLA) is a polyunsaturated (18:3) ω-6 fatty acid (the 6 refers to the position of the first double bond from the methyl end of the fatty acid). It is synth...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    aldo-keto reductase (NADP) activity TAS
    Traceable Author Statement
    more info
    		  
    cytochrome-c oxidase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    heme binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    L-ascorbic acid metabolic process TAS
    Traceable Author Statement
    more info
    		  
    electron transport chain IEA
    Inferred from Electronic Annotation
    more info
    		  
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
    		  
    transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    vitamin metabolic process TAS
    Traceable Author Statement
    more info
    		  
    water-soluble vitamin metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    microsome IEA
    Inferred from Electronic Annotation
    more info
    		  
    mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
    		  
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
    Help top of page

    General protein information

    Preferred Names
    cytochrome b5
    Names
    cytochrome b5
    type 1 cyt-b5
    Help top of page

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023211.1 RefSeqGene

      Range
      4971..43695
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001190807.2 → NP_001177736.1  cytochrome b5 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC090398, BG196223, CA771478, CB112646
      Consensus CDS
      CCDS54188.1
      UniProtKB/TrEMBL
      F8WEU4
      Related
      ENSP00000381011, ENST00000397914
      Conserved Domains (1) summary
      cl02041
      Location:12 – 85
      Blast Score: 262
      Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain

    2. NM_001914.3 → NP_001905.1  cytochrome b5 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an additional exon in the 3' coding region, which introduces a stop codon, as compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, as compared to isoform 1.
      Source sequence(s)
      AC090398, BG196223, CB112646, M60174
      Consensus CDS
      CCDS12005.1
      UniProtKB/Swiss-Prot
      P00167
      Related
      ENSP00000436461, OTTHUMP00000163745, ENST00000494131, OTTHUMT00000256317
      Conserved Domains (1) summary
      cl02041
      Location:12 – 85
      Blast Score: 263
      Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain

    3. NM_148923.3 → NP_683725.1  cytochrome b5 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      BC015182, BG196223, CB112646
      Consensus CDS
      CCDS12004.1
      UniProtKB/Swiss-Prot
      P00167
      Related
      ENSP00000341625, OTTHUMP00000163744, ENST00000340533, OTTHUMT00000256316
      Conserved Domains (1) summary
      cl02041
      Location:12 – 85
      Blast Score: 265
      Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000018.9 Reference GRCh37.p5 Primary Assembly

      Range
      71920527..71959251, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000150.1 Alternate HuRef

      Range
      68652932..68691654, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Help top of page

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC090398.12 (59555..98249) None
    genomic CH471117.1 EAW66544.1
      EAW66545.1
    genomic L39945.1 AAA63169.1
    mRNA AB209617.1 BAD92854.1
    mRNA AK026310.1 None
    mRNA BC015182.1 AAH15182.1
    mRNA BG196223.1 None
    mRNA CA771478.1 None
    mRNA CB112646.1 None
    mRNA CR456990.1 CAG33271.1
    mRNA M22865.1 AAA35729.1
    mRNA M22976.1 AAA52133.1
    mRNA M60174.1 AAA52165.1
    mRNA S76422.1 None
    other-genetic DQ891283.2 ABM82209.1
    other-genetic DQ894343.2 ABM85269.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P00167.2 GenPept UniProtKB/Swiss-Prot:P00167
    Q59F44 GenPept UniProtKB/TrEMBL:Q59F44
    Q9UML1 GenPept UniProtKB/TrEMBL:Q9UML1
    Help top of page

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Links

      Links to other resources

      General information

      Related sites

      Feedback

      Subscription

      Recent activity

      Clear Turn Off Turn On

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...