CYP39A1
24-hydroxycholesterol 7-alpha-hydroxylase
Also known as: CP39A_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NYL5
- Gene
- CYP39A1
- Ensembl
- ENSG00000146233
- Chromosome
- 6
- Canonical length
- 469 aa
- Protein class
- Enzymes, Metabolic proteins, Predicted membrane proteins
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
469 residues, UniProt reviewed canonical sequence.
>Q9NYL5|CYP39A1
1 MELISPTVII ILGCLALFLL LQRKNLRRPP CIKGWIPWIG VGFEFGKAPL EFIEKARIKY
61 GPIFTVFAMG NRMTFVTEEE GINVFLKSKK VDFELAVQNI VYRTASIPKN VFLALHEKLY
121 IMLKGKMGTV NLHQFTGQLT EELHEQLENL GTHGTMDLNN LVRHLLYPVT VNMLFNKSLF
181 STNKKKIKEF HQYFQVYDED FEYGSQLPEC LLRNWSKSKK WFLELFEKNI PDIKACKSAK
241 DNSMTLLQAT LDIVETETSK ENSPNYGLLL LWASLSNAVP VAFWTLAYVL SHPDIHKAIM
301 EGISSVFGKA GKDKIKVSED DLENLLLIKW CVLETIRLKA PGVITRKVVK PVEILNYIIP
361 SGDLLMLSPF WLHRNPKYFP EPELFKPERW KKANLEKHSF LDCFMAFGSG KFQCPARWFA
421 LLEVQMCIIL ILYKYDCSLL DPLPKQSYLH LVGVPQPEGQ CRIEYKQRILocalizationUniProt · AlphaFold · HPA
Whether an antibody against CYP39A1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 3
- Mean surface accessibility (rSASA)
- 0.25
- Highest tissue expression
- 93 nTPM
Expression across tissuesHPA
Tissue
- liver: 93 nTPM
- salivary gland: 22 nTPM
- epididymis: 20 nTPM
- skin: 15 nTPM
- parathyroid gland: 14 nTPM
- prostate: 14 nTPM
Single-cell type
- hepatocytes: 145 nCPM
- sertoli cells: 93 nCPM
- prostatic glandular cells: 87 nCPM
- thyrotrophs: 69 nCPM
- epididymal principal cells: 66 nCPM
- salivary acinar cells: 54 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- choroid plexus: 8.6 nTPM
- cerebellum: 4.9 nTPM
- white matter: 3.3 nTPM
- basal ganglia: 3.1 nTPM
- spinal cord: 2.7 nTPM
- thalamus: 2.7 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.38
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.06
- DepMap mean gene effect
- 0.04
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- bile acid biosynthetic process
- cholesterol catabolic process
- cholesterol homeostasis
- digestion
- sterol metabolic process
Molecular functions
- 24S-hydroxycholesterol 7-alpha-hydroxylase activity
- heme binding
- iron ion binding
- oxysterol 7-alpha-hydroxylase activity
- steroid hydroxylase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CYP39A1 as an antibody target. Whether an autoantibody or antibody against CYP39A1 could matter depends on whether native CYP39A1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CYP39A1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CYP39A1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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