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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

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