CYP8B1
7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase
Also known as: CP8B1_HUMAN, CYP12
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UNU6
- Gene
- CYP8B1
- Ensembl
- ENSG00000180432
- Chromosome
- 3
- Canonical length
- 501 aa
- Protein class
- Enzymes, Metabolic proteins, Predicted intracellular 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 membrane protein catalyzes the conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these two steroids determines the relative amounts of cholic acid and chenodeoxycholic acid both of which are secreted in the bile and affect the solubility of cholesterol. This gene is unique among the cytochrome P450 genes in that it is intronless. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
501 residues, UniProt reviewed canonical sequence.
>Q9UNU6|CYP8B1
1 MVLWGPVLGA LLVVIAGYLC LPGMLRQRRP WEPPLDKGTV PWLGHAMAFR KNMFEFLKRM
61 RTKHGDVFTV QLGGQYFTFV MDPLSFGSIL KDTQRKLDFG QYAKKLVLKV FGYRSVQGDH
121 EMIHSASTKH LRGDGLKDLN ETMLDSLSFV MLTSKGWSLD ASCWHEDSLF RFCYYILFTA
181 GYLSLFGYTK DKEQDLLQAG ELFMEFRKFD LLFPRFVYSL LWPREWLEVG RLQRLFHKML
241 SVSHSQEKEG ISNWLGNMLQ FLREQGVPSA MQDKFNFMML WASQGNTGPT SFWALLYLLK
301 HPEAIRAVRE EATQVLGEAR LETKQSFAFK LGALQHTPVL DSVVEETLRL RAAPTLLRLV
361 HEDYTLKMSS GQEYLFRHGD ILALFPYLSV HMDPDIHPEP TVFKYDRFLN PNGSRKVDFF
421 KTGKKIHHYT MPWGSGVSIC PGRFFALSEV KLFILLMVTH FDLELVDPDT PLPHVDPQRW
481 GFGTMQPSHD VRFRYRLHPT ELocalizationUniProt · AlphaFold · HPA
Whether an antibody against CYP8B1 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
- 1
- Mean surface accessibility (rSASA)
- 0.24
- Highest tissue expression
- 378 nTPM
Expression across tissuesHPA
Tissue
- liver: 378 nTPM
- kidney: 14 nTPM
- epididymis: 0.8 nTPM
- gallbladder: 0.5 nTPM
- placenta: 0.4 nTPM
- skin: 0.4 nTPM
Single-cell type
- hepatocytes: 1,054 nCPM
- extravillous trophoblasts: 65 nCPM
- lymphatic endothelial cells: 32 nCPM
- syncytiotrophoblasts: 29 nCPM
- migrating cytotrophoblasts: 24 nCPM
- epicardial cells: 14 nCPM
Immune cell
- basophil: 0.2 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- hippocampal formation: 1.4 nTPM
- amygdala: 1.3 nTPM
- thalamus: 1.3 nTPM
- basal ganglia: 1.2 nTPM
- cerebral cortex: 1.2 nTPM
- hypothalamus: 1.2 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)
- 1.19
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.07
- DepMap mean gene effect
- -0.08
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- bile acid biosynthetic process
- positive regulation of intestinal cholesterol absorption
- response to cholesterol
- response to nutrient levels
- steroid biosynthetic process
- sterol metabolic process
Molecular functions
- heme binding
- iron ion binding
- oxygen binding
- sterol 12-alpha-hydroxylase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CYP8B1 as an antibody target. Whether an autoantibody or antibody against CYP8B1 could matter depends on whether native CYP8B1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CYP8B1 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 CYP8B1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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