Aliases for CYP39A1 Gene
Aliases for CYP39A1 Gene
- Cytochrome P450 Family 39 Subfamily A Member 1 2 3 5
- Cytochrome P450, Subfamily XXXIX (Oxysterol 7 Alpha-Hydroxylase), Polypeptide 1 2 3
- Cytochrome P450, Family 39, Subfamily A, Polypeptide 1 2 3
- 24-Hydroxycholesterol 7-Alpha-Hydroxylase 3
- Oxysterol 7-Alpha-Hydroxylase 4
- Cytochrome P450 39A1 4
- EC 1.14.14.26 4
- HCYP39A1 4
External Ids for CYP39A1 Gene
- HGNC: 17449
- Entrez Gene: 51302
- Ensembl: ENSG00000146233
- OMIM: 605994
- UniProtKB: Q9NYL5
Previous GeneCards Identifiers for CYP39A1 Gene
- GC06M046519
- GC06M046564
- GC06M046625
- GC06M046240
Summaries 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 Member 1) is a Protein Coding gene. Among its related pathways are Cytochrome P450 - arranged by substrate type and Metabolism. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. 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.
Additional gene information for CYP39A1 Gene
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP39A1 Gene
Genomics for CYP39A1 Gene
GeneHancer (GH) Regulatory Elements for CYP39A1 Gene
Promoters and enhancers for CYP39A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around CYP39A1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CYP39A1 gene promoter:
-
- PPAR-alpha
- Sox5
- MIF-1
- CUTL1
- HOXA3
- LyF-1
- Cart-1
- STAT5A
- FAC1
- Pax-4a
Regulatory Element Products
Genomic Locations for CYP39A1 Gene
Genomic Locations for CYP39A1 Gene
- chr6:46,549,580-46,652,847
- (GRCh38/hg38)
- Size:
- 103,268 bases
- Orientation:
- Minus strand
- chr6:46,517,445-46,620,523
- (GRCh37/hg19)
- Size:
- 103,079 bases
- Orientation:
- Minus strand
Genomic View for CYP39A1 Gene
Genes around CYP39A1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p12.3 by Entrez Gene
- 6p12.3 by HGNC
- 6p12.3 by Ensembl
CYP39A1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CYP39A1 Gene
Proteins for CYP39A1 Gene
-
Protein details for CYP39A1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NYL5-CP39A_HUMAN
- Recommended name:
- 24-hydroxycholesterol 7-alpha-hydroxylase
- Protein Accession:
- Q9NYL5
- Q5VTT0
- Q96FW5
Protein attributes for CYP39A1 Gene
- Size:
- 469 amino acids
- Molecular mass:
- 54116 Da
- Cofactor:
- Name=heme; Xref=ChEBI:CHEBI:30413;
- Quaternary structure:
- No Data Available
Protein Expression for CYP39A1 Gene
Post-translational modifications for CYP39A1 Gene
Other Protein References for CYP39A1 Gene
Antibody Products
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-
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-
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Protein Products
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-
Abcam proteins for CYP39A1
Assay Products
No data available for DME Specific Peptides for CYP39A1 Gene
Domains & Families for CYP39A1 Gene
Gene Families for CYP39A1 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted membrane proteins
Protein Domains for CYP39A1 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for CYP39A1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9NYL5- Family:
-
- Belongs to the cytochrome P450 family.
Function for CYP39A1 Gene
Molecular function for CYP39A1 Gene
- 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.
- UniProtKB/Swiss-Prot CatalyticActivity:
- (24S)-cholest-5-ene-3-beta,24-diol + [reduced NADPH--hemoprotein reductase] + O(2) = (24S)-cholest-5-ene-3-beta,7-alpha,24-triol + [oxidized NADPH--hemoprotein reductase] + H(2)O.
Enzyme Numbers (IUBMB) 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:0008395 | steroid hydroxylase activity | IBA | -- |
| GO:0008396 | oxysterol 7-alpha-hydroxylase activity | IEA,TAS | -- |
| GO:0016491 | oxidoreductase activity | IEA | -- |
Phenotypes for CYP39A1 Gene
- GenomeRNAi human phenotypes for CYP39A1:
Animal Model Products
-
Taconic Biosciences Mouse Models for CYP39A1
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-
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-
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miRNA for CYP39A1 Gene
- miRTarBase miRNAs that target CYP39A1
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Clone Products
- Sino Biological Human cDNA Clone for CYP39A1
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- Applied Biological Materials Clones for CYP39A1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for CYP39A1
No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| golgi apparatus | 2 |
| peroxisome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0031090 | organelle membrane | IEA | -- |
| GO:0043231 | intracellular membrane-bounded organelle | TAS | 10748047 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CYP39A1 Gene
Pathways & Interactions for CYP39A1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cytochrome P450 - arranged by substrate type | ||
| 2 | Synthesis of bile acids and bile salts | ||
| 3 | Metabolism |
.37
|
|
Pathways by source for CYP39A1 Gene
2 BioSystems pathways for CYP39A1 Gene
9 Reactome pathways for CYP39A1 Gene
1 KEGG pathway for CYP39A1 Gene
Interacting Proteins for CYP39A1 Gene
GPS-Prot Interaction Network for CYP39A1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006629 | lipid metabolic process | IEA | -- |
| GO:0006699 | bile acid biosynthetic process | TAS,IEA | -- |
| GO:0006707 | cholesterol catabolic process | IEA | -- |
| GO:0007586 | digestion | TAS | 10748047 |
| GO:0008202 | steroid metabolic process | IEA | -- |
No data available for SIGNOR curated interactions for CYP39A1 Gene
Drugs & Compounds for CYP39A1 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| (24R)-Cholest-5-ene-3-beta,24-diol |
|
|
||||
| (24R)-Cholest-5-ene-3-beta,7-alpha,24-triol |
|
|
||||
| NADP |
|
53-59-8 |
|
|||
| nadph |
|
53-57-6 |
|
Drug Products
Transcripts for CYP39A1 Gene
mRNA/cDNA for CYP39A1 Gene
- (12) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (81) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000619708 2269 bps (uc010jzd.2)
- ENST00000480804 403 bps (uc063oxh.1)
- ENST00000476076 277 bps (uc063oxg.1)
- ENST00000489657 506 bps (uc063oxf.1)
- ENST00000275016 2176 bps (uc003oyf.3)
Unigene Clusters for CYP39A1 Gene
CRISPR Products
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OriGene CRISPR knockouts for CYP39A1
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Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CYP39A1
- GenScript: Design CRISPR guide RNA sequences for CYP39A1
miRNA Products
Inhibitory RNA Products
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Clone Products
- Sino Biological Human cDNA Clone for CYP39A1
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- Applied Biological Materials Clones for CYP39A1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for CYP39A1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Liver (Hepatobiliary System)
- Periportal Hepatocytes Liver Lobule
- Neural Tube (Nervous System)
mRNA differential expression in normal tissues according to GTEx for CYP39A1 Gene
This gene is overexpressed in Liver (x9.0).
This gene is overexpressed in Kidney (60.5) and Heart (6.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CYP39A1 Gene
NURSA nuclear receptor signaling pathways regulating expression of CYP39A1 Gene:
CYP39A1SOURCE GeneReport for Unigene cluster for CYP39A1 Gene:
Hs.387367mRNA Expression by UniProt/SwissProt for CYP39A1 Gene:
Q9NYL5-CP39A_HUMAN
Tissue specificity:
Liver specific.
Evidence on tissue expression from TISSUES for CYP39A1 Gene
- Liver(4.5)
- Skin(4.2)
Primer Products
-
OriGene qPCR primer pairs for CYP39A1
-
OriGene qPCR primer pairs and template standards for CYP39A1
- genomics-online: primer clones - Search results for 114 available CYP39A1 gene related products
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Gene Expression Assay Products
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CYP39A1 Gene
Orthologs for CYP39A1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CYP39A1 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CYP39A1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | CYP39A1 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Cyp39a1 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Cyp39a1 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | CYP39A1 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | CYP39A1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CYP39A1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CYP39A1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100486848 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | cyp39a1 34 33 |
|
OneToOne | |
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.5434 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany |
- Species where no ortholog for CYP39A1 was found in the sources mined by GeneCards:
-
- 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
- ENSEMBL:
- Gene Tree for CYP39A1 (if available)
- TreeFam:
- Gene Tree for CYP39A1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CYP39A1: view image
Paralogs for CYP39A1 Gene
Variants for CYP39A1 Gene
| SNP ID | Clin | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000036463 | -- | 46,632,950(-) | T/C | intron_variant | |
| rs1000055341 | -- | 46,609,913(-) | T/C | intron_variant | |
| rs1000058560 | -- | 46,618,170(-) | T/A | intron_variant | |
| rs1000121095 | -- | 46,608,802(-) | C/T | intron_variant | |
| rs1000168292 | -- | 46,567,927(-) | G/A | genic_downstream_transcript_variant, intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2662881 | CNV | deletion | 23128226 |
| esv3608885 | CNV | loss | 21293372 |
| nsv1109774 | CNV | deletion | 24896259 |
| nsv348640 | CNV | deletion | 16902084 |
Residual Variation Intolerance Score:
68.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
8.32;
85.26% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CYP39A1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP39A1 Gene
Disorders for CYP39A1 Gene
Additional Disease Information for CYP39A1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No disorders were found for CYP39A1 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CYP39A1 Gene
Publications for CYP39A1 Gene
- Expression cloning of an oxysterol 7alpha-hydroxylase selective for 24-hydroxycholesterol. (PMID: 10748047) Li-Hawkins J … Russell DW (The Journal of biological chemistry 2000) 2 3 4 58
- A Large-scale genetic association study of esophageal adenocarcinoma risk. (PMID: 20453000) Liu CY … Christiani DC (Carcinogenesis 2010) 3 44 58
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
- Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
- CYP39A1 polymorphism is associated with toxicity during intensive induction chemotherapy in patients with advanced head and neck cancer. (PMID: 26475344) Melchardt T … Egle A (BMC cancer 2015) 3 58
Products for CYP39A1 Gene
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Sources for CYP39A1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
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