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Aliases for CYP39A1 Gene

Aliases for CYP39A1 Gene

  • Cytochrome P450, Family 39, Subfamily A, Polypeptide 1 2 3
  • Cytochrome P450, Subfamily XXXIX (Oxysterol 7 Alpha-Hydroxylase), Polypeptide 1 2
  • Oxysterol 7-Alpha-Hydroxylase 4
  • Cytochrome P450 39A1 4
  • EC 4
  • HCYP39A1 4

External Ids for CYP39A1 Gene

Previous GeneCards Identifiers for CYP39A1 Gene

  • GC06M046519
  • GC06M046564
  • GC06M046625
  • GC06M046240

Summaries for CYP39A1 Gene

Entrez Gene Summary for CYP39A1 Gene

  • This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein is involved in the conversion of cholesterol to bile acids. Its substrates include the oxysterols 25-hydroxycholesterol, 27-hydroxycholesterol and 24-hydroxycholesterol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

GeneCards Summary for CYP39A1 Gene

CYP39A1 (Cytochrome P450, Family 39, Subfamily A, Polypeptide 1) is a Protein Coding gene. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP8B1.

UniProtKB/Swiss-Prot for CYP39A1 Gene

  • Involved in the bile acid metabolism. Has a preference for 24-hydroxycholesterol, and converts it into a 7-alpha-hydroxylated product

Gene Wiki entry for CYP39A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP39A1 Gene

Genomics for CYP39A1 Gene

Regulatory Elements for CYP39A1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CYP39A1 Gene

46,549,580 bp from pter
46,652,830 bp from pter
103,251 bases
Minus strand

Genomic View for CYP39A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CYP39A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP39A1 Gene

Proteins for CYP39A1 Gene

  • Protein details for CYP39A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    24-hydroxycholesterol 7-alpha-hydroxylase
    Protein Accession:
    Secondary Accessions:
    • Q5VTT0
    • Q96FW5

    Protein attributes for CYP39A1 Gene

    469 amino acids
    Molecular mass:
    54116 Da
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

neXtProt entry for CYP39A1 Gene

Proteomics data for CYP39A1 Gene at MOPED

Post-translational modifications for CYP39A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP39A1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for CYP39A1 Gene

Domains for CYP39A1 Gene

Gene Families for CYP39A1 Gene

  • CYP :Cytochrome P450s

Protein Domains for CYP39A1 Gene

Suggested Antigen Peptide Sequences for CYP39A1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Q9NYL5
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP39A1: view

Function for CYP39A1 Gene

Molecular function for CYP39A1 Gene

UniProtKB/Swiss-Prot CatalyticActivity: (24R)-cholest-5-ene-3-beta,24-diol + NADPH + O(2) = (24R)-cholest-5-ene-3-beta,7-alpha,24-triol + NADP(+) + H(2)O
UniProtKB/Swiss-Prot Function: Involved in the bile acid metabolism. Has a preference for 24-hydroxycholesterol, and converts it into a 7-alpha-hydroxylated product

Enzyme Numbers (IUBMB) for CYP39A1 Gene

Gene Ontology (GO) - Molecular Function for CYP39A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005506 iron ion binding IEA --
GO:0008387 steroid 7-alpha-hydroxylase activity IEA --
GO:0008396 oxysterol 7-alpha-hydroxylase activity IDA 10748047
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen --
GO:0020037 heme binding IEA --
genes like me logo Genes that share ontologies with CYP39A1: view

Animal Model Products

CRISPR Products

miRNA for CYP39A1 Gene

miRTarBase miRNAs that target CYP39A1

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for CYP39A1 Gene

Localization for CYP39A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP39A1 Gene

Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.

Subcellular locations from

Jensen Localization Image for CYP39A1 Gene COMPARTMENTS Subcellular localization image for CYP39A1 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for CYP39A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0043231 intracellular membrane-bounded organelle TAS 10748047
genes like me logo Genes that share ontologies with CYP39A1: view

Pathways for CYP39A1 Gene

genes like me logo Genes that share pathways with CYP39A1: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Lipoprotein Signaling & Cholesterol Metabolism in human,mouse,rat

Interacting Proteins for CYP39A1 Gene

Gene Ontology (GO) - Biological Process for CYP39A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006699 bile acid biosynthetic process TAS --
GO:0006707 cholesterol catabolic process IEA --
GO:0006805 xenobiotic metabolic process TAS --
GO:0007586 digestion TAS 10748047
GO:0008206 bile acid metabolic process TAS --
genes like me logo Genes that share ontologies with CYP39A1: view

Compounds for CYP39A1 Gene

(5) HMDB Compounds for CYP39A1 Gene

Compound Synonyms Cas Number PubMed IDs
  • Cholest-5-ene-3,24-diol
Not Available
  • 5a-cholesta-7,24-dien-3-b-ol
Not Available
  • (protoporphyrinato)iron
  • Adenine-nicotinamide dinucleotide phosphate
  • 2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
genes like me logo Genes that share compounds with CYP39A1: view

Transcripts for CYP39A1 Gene

Unigene Clusters for CYP39A1 Gene

Cytochrome P450, family 39, subfamily A, polypeptide 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CYP39A1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYP39A1 Gene

No ASD Table

Relevant External Links for CYP39A1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CYP39A1 Gene

mRNA expression in normal human tissues for CYP39A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYP39A1 Gene

This gene is overexpressed in Liver (9.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CYP39A1 Gene

SOURCE GeneReport for Unigene cluster for CYP39A1 Gene Hs.387367

mRNA Expression by UniProt/SwissProt for CYP39A1 Gene

Tissue specificity: Liver specific
genes like me logo Genes that share expressions with CYP39A1: view

In Situ Assay Products

Orthologs for CYP39A1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CYP39A1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CYP39A1 35
  • 99.64 (n)
  • 99.15 (a)
CYP39A1 36
  • 99 (a)
(Bos Taurus)
Mammalia CYP39A1 35
  • 85.61 (n)
  • 79.7 (a)
CYP39A1 36
  • 80 (a)
(Canis familiaris)
Mammalia CYP39A1 35
  • 88.89 (n)
  • 85.04 (a)
CYP39A1 36
  • 84 (a)
(Mus musculus)
Mammalia Cyp39a1 35
  • 80.69 (n)
  • 75.75 (a)
Cyp39a1 16
Cyp39a1 36
  • 75 (a)
(Monodelphis domestica)
Mammalia CYP39A1 36
  • 57 (a)
(Ornithorhynchus anatinus)
Mammalia CYP39A1 36
  • 69 (a)
(Rattus norvegicus)
Mammalia Cyp39a1 35
  • 78.75 (n)
  • 74.67 (a)
(Gallus gallus)
Aves CYP39A1 35
  • 63.69 (n)
  • 58.12 (a)
CYP39A1 36
  • 55 (a)
(Anolis carolinensis)
Reptilia CYP39A1 36
  • 53 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486848 35
  • 59.71 (n)
  • 53.9 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5434 35
(Danio rerio)
Actinopterygii cyp39a1 35
  • 58.56 (n)
  • 51.61 (a)
cyp39a1 36
  • 49 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 21 (a)
-- 36
  • 19 (a)
Species with no ortholog for CYP39A1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CYP39A1 Gene

Gene Tree for CYP39A1 (if available)
Gene Tree for CYP39A1 (if available)

Paralogs for CYP39A1 Gene

Paralogs for CYP39A1 Gene

Selected SIMAP similar genes for CYP39A1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CYP39A1: view

Variants for CYP39A1 Gene

Sequence variations from dbSNP and Humsavar for CYP39A1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs9958 -- 46,550,080(+) AGTTA(C/T)GCATG utr-variant-3-prime
rs639434 -- 46,638,591(-) GAGGA(A/G)ATTAT intron-variant
rs666240 -- 46,639,971(-) CAGCC(A/G)GCTAA intron-variant
rs667078 -- 46,640,152(+) GAGAT(A/G)ATGGA intron-variant
rs681513 -- 46,641,029(-) ACATA(C/G)AGAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CYP39A1 Gene

Variant ID Type Subtype PubMed ID
nsv885868 CNV Gain 21882294
esv2662881 CNV Deletion 23128226
nsv348640 CNV Loss 16902084

Relevant External Links for CYP39A1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP39A1 Gene

Disorders for CYP39A1 Gene

Relevant External Links for CYP39A1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with CYP39A1: view

No data available for UniProtKB/Swiss-Prot for CYP39A1 Gene

Publications for CYP39A1 Gene

  1. Expression cloning of an oxysterol 7alpha-hydroxylase selective for 24-hydroxycholesterol. (PMID: 10748047) Li-Hawkins J. … Russell D.W. (J. Biol. Chem. 2000) 2 3 4
  2. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PMID: 20453000) Liu C.Y. … Christiani D.C. (Carcinogenesis 2010) 3 48
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Primary open-angle glaucoma: association with cholesterol 24S-hydroxylase (CYP46A1) gene polymorphism and plasma 24-hydroxycholesterol levels. (PMID: 19553612) Fourgeux C. … Bretillon L. (Invest. Ophthalmol. Vis. Sci. 2009) 3
  5. Oxysterol 7alpha-hydroxylase (CYP39A1) in the ciliary nonpigmented epithelium of bovine eye. (PMID: 12649335) Ikeda H. … Honda Y. (Lab. Invest. 2003) 23

Products for CYP39A1 Gene

Sources for CYP39A1 Gene

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