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    Cyb5a cytochrome b5 type A (microsomal) [ Mus musculus (house mouse) ]

    Gene ID: 109672, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Cyb5aprovided by MGI
    Official Full Name
    cytochrome b5 type A (microsomal)provided by MGI
    Primary source
    MGI:MGI:1926952
    See related
    Ensembl:ENSMUSG00000024646 AllianceGenome:MGI:1926952
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Cyb5; 0610009N12Rik
    Summary
    Predicted to enable enzyme binding activity and heme binding activity. Predicted to act upstream of or within fatty acid metabolic process. Located in endoplasmic reticulum. Is expressed in early conceptus. Human ortholog(s) of this gene implicated in methemoglobinemia and methemoglobinemia and ambiguous genitalia. Orthologous to human CYB5A (cytochrome b5 type A). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in liver adult (RPKM 359.3), liver E18 (RPKM 268.1) and 25 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    18 E4; 18 57.53 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (84869463..84897996)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (84851338..84879871)

    Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene divergent protein kinase domain 1C Neighboring gene predicted gene, 38576 Neighboring gene STARR-seq mESC enhancer starr_45257 Neighboring gene STARR-positive B cell enhancer ABC_E8728 Neighboring gene predicted gene, 17266 Neighboring gene CapStarr-seq enhancer MGSCv37_chr18:85043680-85043998 Neighboring gene STARR-seq mESC enhancer starr_45258 Neighboring gene predicted gene 16146 Neighboring gene STARR-positive B cell enhancer ABC_E11009 Neighboring gene STARR-seq mESC enhancer starr_45265 Neighboring gene STARR-seq mESC enhancer starr_45275 Neighboring gene F-box protein 15 Neighboring gene translocase of inner mitochondrial membrane 21 Neighboring gene STARR-seq mESC enhancer starr_45276 Neighboring gene STARR-seq mESC enhancer starr_45277 Neighboring gene STARR-seq mESC enhancer starr_45279 Neighboring gene predicted gene, 32291

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Cytochrome b5 null mouse: a new model for studying inherited skin disorders and the role of unsaturated fatty acids in normal homeostasis. Finn RD, et al. Transgenic Res, 2011 Jun. PMID 20676935, Free PMC Article
    2. In vitro membrane-inserted conformation of the cytochrome b(5) tail. Hanlon MR, et al. Biochem J, 2000 Nov 15. PMID 11062064, Free PMC Article
    3. Impaired 17,20-Lyase Activity in Male Mice Lacking Cytochrome b5 in Leydig Cells. Sondhi V, et al. Mol Endocrinol, 2016 Apr. PMID 26974035, Free PMC Article
    4. Cytochrome b5 and cytokeratin 17 are biomarkers in bronchoalveolar fluid signifying onset of acute lung injury. Ménoret A, et al. PLoS One, 2012. PMID 22792238, Free PMC Article
    5. Defining the in Vivo Role for cytochrome b5 in cytochrome P450 function through the conditional hepatic deletion of microsomal cytochrome b5. Finn RD, et al. J Biol Chem, 2008 Nov 14. PMID 18805792, Free PMC Article

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Demonstration of the physiologic importance of cytochrome b5 activating the 17,20-lyase reaction and the production of 19-carbon sex steroids from 21-carbon precursors in mice.
      Title: Impaired 17,20-Lyase Activity in Male Mice Lacking Cytochrome b5 in Leydig Cells.
    2. Cytochrome b5 and cytokeratin 17 are biomarkers in bronchoalveolar fluid signifying onset of acute lung injury.
      Title: Cytochrome b5 and cytokeratin 17 are biomarkers in bronchoalveolar fluid signifying onset of acute lung injury.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (1)  1 citation
    • Endonuclease-mediated (2) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables enzyme binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables heme binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables stearoyl-CoA 9-desaturase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within fatty acid metabolic process IC
    Inferred by Curator
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    is_active_in mitochondrial outer membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion HDA PubMed 

    General protein information

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    Preferred Names
    cytochrome b5

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001348159.1 → NP_001335088.1  cytochrome b5 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 3' coding region with an early stop codon, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AA051703, AC134545, AK132102, BY284726
      Consensus CDS
      CCDS89294.1
      UniProtKB/TrEMBL
      G5E850
      Related
      ENSMUSP00000025549.8, ENSMUST00000025549.14
      Conserved Domains (1) summary
      pfam00173
      Location:13 → 85
      Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain

    2. NM_025797.4 → NP_080073.1  cytochrome b5 isoform 1

      See identical proteins and their annotated locations for NP_080073.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC134545, AK132102, BY284726
      Consensus CDS
      CCDS29385.1
      UniProtKB/Swiss-Prot
      P56395
      UniProtKB/TrEMBL
      Q544Z9
      Related
      ENSMUSP00000124480.2, ENSMUST00000160180.9
      Conserved Domains (1) summary
      pfam00173
      Location:13 → 85
      Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000084.7 Reference GRCm39 C57BL/6J

      Range
      84869463..84897996
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P56395.2 GenPept UniProtKB/Swiss-Prot:P56395

    Gene LinkOut

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

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