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    Cyp39a1 cytochrome P450, family 39, subfamily a, polypeptide 1 [ Mus musculus (house mouse) ]

    Gene ID: 56050, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Cyp39a1provided by MGI
    Official Full Name
    cytochrome P450, family 39, subfamily a, polypeptide 1provided by MGI
    Primary source
    MGI:MGI:1927096
    See related
    Ensembl:ENSMUSG00000023963 AllianceGenome:MGI:1927096
    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
    mCYP39A1
    Summary
    Enables oxysterol 7-alpha-hydroxylase activity and steroid 7-alpha-hydroxylase activity. Involved in bile acid biosynthetic process. Acts upstream of or within cholesterol catabolic process. Predicted to be located in intracellular membrane-bounded organelle. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and sensory organ. Orthologous to human CYP39A1 (cytochrome P450 family 39 subfamily A member 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in liver E18 (RPKM 16.7), bladder adult (RPKM 3.0) and 13 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    17 B3; 17 19.75 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (43978263..44062322)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (43667372..43751431)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:43782177-43782395 Neighboring gene tudor domain containing 6 Neighboring gene solute carrier family 25, member 27 Neighboring gene STARR-positive B cell enhancer mm9_chr17:43837943-43838243 Neighboring gene STARR-seq mESC enhancer starr_42600 Neighboring gene STARR-seq mESC enhancer starr_42601 Neighboring gene predicted gene, 25783 Neighboring gene predicted gene, 41581 Neighboring gene predicted gene, 34773 Neighboring gene regulator of calcineurin 2 Neighboring gene STARR-seq mESC enhancer starr_42606 Neighboring gene STARR-seq mESC enhancer starr_42607

    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. Expression cloning of an oxysterol 7alpha-hydroxylase selective for 24-hydroxycholesterol. Li-Hawkins J, et al. J Biol Chem, 2000 Jun 2. PMID 10748047
    2. Zinc Fingers and Homeoboxes 2 (Zhx2) Regulates Sexually Dimorphic Cyp Gene Expression in the Adult Mouse Liver. Creasy KT, et al. Gene Expr, 2016. PMID 27197076, Free PMC Article
    3. Comparative expression profiling of 40 mouse cytochrome P450 genes in embryonic and adult tissues. Choudhary D, et al. Arch Biochem Biophys, 2003 Jun 1. PMID 12745259
    4. Cell-type-specific consequences of Reelin deficiency in the mouse neocortex, hippocampus, and amygdala. Boyle MP, et al. J Comp Neurol, 2011 Aug 1. PMID 21491433
    5. In vivo and in vitro investigations of heterozygous nebulin knock-out mice disclose a mild skeletal muscle phenotype. Gineste C, et al. Neuromuscul Disord, 2013 Apr. PMID 23375831

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1) 
    • Endonuclease-mediated (4) 

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 24-hydroxycholesterol 7alpha-hydroxylase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables heme binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables iron ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables monooxygenase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oxysterol 7-alpha-hydroxylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables oxysterol 7-alpha-hydroxylase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables oxysterol 7-alpha-hydroxylase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables steroid 7-alpha-hydroxylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables steroid 7-alpha-hydroxylase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in bile acid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in bile acid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in bile acid biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within bile acid catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within cholesterol catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cholesterol homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in digestion TAS
    Traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of_or_within lipid catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within steroid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intracellular membrane-bounded organelle TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    24-hydroxycholesterol 7-alpha-hydroxylase
    Names
    cytochrome P450, 39a1 (oxysterol 7alpha-hydroxylase)
    oxysterol 7-alpha-hydroxylase
    NP_001272876.1
    NP_001272877.1
    NP_061375.1

    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_001285947.1 → NP_001272876.1  24-hydroxycholesterol 7-alpha-hydroxylase isoform 2

      See identical proteins and their annotated locations for NP_001272876.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding region compared to variant 1. The encoded protein (isoform 2) is shorter than isoform 1.
      Source sequence(s)
      AC154204, AC154647, AK031733, BE648427
      Consensus CDS
      CCDS89101.1
      UniProtKB/TrEMBL
      A0A3B2WCK5, Q8CFY8
      Related
      ENSMUSP00000156567.2, ENSMUST00000233437.2
      Conserved Domains (1) summary
      cl12078
      Location:32 → 409
      p450; Cytochrome P450

    2. NM_001285948.1 → NP_001272877.1  24-hydroxycholesterol 7-alpha-hydroxylase isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 3' coding region resulting in a frameshift compared to variant 1. The encoded protein (isoform 3) has a distinct C-terminus and is shorter compared to isoform 1.
      Source sequence(s)
      AC154204, AC154647, AK031733, BE648427
      Consensus CDS
      CCDS89100.1
      UniProtKB/TrEMBL
      A0A3B2W4C8, Q05CS3
      Related
      ENSMUSP00000156870.2, ENSMUST00000233627.2
      Conserved Domains (1) summary
      cl12078
      Location:32 → 388
      p450; Cytochrome P450

    3. NM_018887.4 → NP_061375.1  24-hydroxycholesterol 7-alpha-hydroxylase isoform 1

      See identical proteins and their annotated locations for NP_061375.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC154647, AK031733, BE648427
      Consensus CDS
      CCDS28799.1
      UniProtKB/Swiss-Prot
      Q9JKJ9
      UniProtKB/TrEMBL
      Q544S6, Q8CFY8
      Related
      ENSMUSP00000130073.2, ENSMUST00000170988.2
      Conserved Domains (1) summary
      cl12078
      Location:32 → 459
      p450; Cytochrome P450

    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_000083.7 Reference GRCm39 C57BL/6J

      Range
      43978263..44062322
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9JKJ9.1 GenPept UniProtKB/Swiss-Prot:Q9JKJ9

    Gene LinkOut

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

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