CYP26B1
Cytochrome P450 26B1
Also known as: CP26B_HUMAN, P450RAI-2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NR63
- Gene
- CYP26B1
- Ensembl
- ENSG00000003137
- Chromosome
- 2
- Canonical length
- 512 aa
- Protein class
- Disease related genes, Metabolic proteins, Predicted intracellular proteins
- Subcellular location
- Cytosol
OverviewNCBI Gene
This gene encodes a member of the cytochrome P450 superfamily. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein is localized to the endoplasmic reticulum, and functions as a critical regulator of all-trans retinoic acid levels by the specific inactivation of all-trans retinoic acid to hydroxylated forms. Mutations in this gene are associated with radiohumeral fusions and other skeletal and craniofacial anomalies, and increased levels of the encoded protein are associated with atherosclerotic lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
Canonical amino-acid sequenceUniProt
512 residues, UniProt reviewed canonical sequence.
>Q9NR63|CYP26B1
1 MLFEGLDLVS ALATLAACLV SVTLLLAVSQ QLWQLRWAAT RDKSCKLPIP KGSMGFPLIG
61 ETGHWLLQGS GFQSSRREKY GNVFKTHLLG RPLIRVTGAE NVRKILMGEH HLVSTEWPRS
121 TRMLLGPNTV SNSIGDIHRN KRKVFSKIFS HEALESYLPK IQLVIQDTLR AWSSHPEAIN
181 VYQEAQKLTF RMAIRVLLGF SIPEEDLGHL FEVYQQFVDN VFSLPVDLPF SGYRRGIQAR
241 QILQKGLEKA IREKLQCTQG KDYLDALDLL IESSKEHGKE MTMQELKDGT LELIFAAYAT
301 TASASTSLIM QLLKHPTVLE KLRDELRAHG ILHSGGCPCE GTLRLDTLSG LRYLDCVIKE
361 VMRLFTPISG GYRTVLQTFE LDGFQIPKGW SVMYSIRDTH DTAPVFKDVN VFDPDRFSQA
421 RSEDKDGRFH YLPFGGGVRT CLGKHLAKLF LKVLAVELAS TSRFELATRT FPRITLVPVL
481 HPVDGLSVKF FGLDSNQNEI LPETEAMLSA TVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CYP26B1 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
- 0
- Mean surface accessibility (rSASA)
- 0.26
- Highest tissue expression
- 35 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 35 nTPM
- skin: 30 nTPM
- adipose tissue: 24 nTPM
- thymus: 18 nTPM
- breast: 14 nTPM
- thyroid gland: 14 nTPM
Single-cell type
- peritubular myoid cells: 236 nCPM
- leydig cells: 111 nCPM
- adipocytes: 33 nCPM
- pericytes: 29 nCPM
- esophageal apical cells: 29 nCPM
- sertoli cells: 18 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
- pons: 111 nTPM
- medulla oblongata: 56 nTPM
- cerebellum: 33 nTPM
- amygdala: 33 nTPM
- midbrain: 31 nTPM
- cerebral cortex: 22 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CYP26B1.
Disease | AllUniProt
Conditions CYP26B1 is implicated in, by any mechanism.
- Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) MIM:614416
Disease | GeneticClinVar
6 pathogenic / likely-pathogenic of 177 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Lethal occipital encephalocele-skeletal dysplasia syndrome
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)
- 0.29
- gnomAD pLI
- 0.98
- gnomAD missense Z
- 1.05
- DepMap mean gene effect
- 0.04
- 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
- bone morphogenesis
- cell fate determination
- cellular response to retinoic acid
- central nervous system development
- cornification
- embryonic limb morphogenesis
- establishment of skin barrier
- establishment of T cell polarity
- inflammatory response
- kidney development
- male meiotic nuclear division
- negative regulation of retinoic acid receptor signaling pathway
- positive regulation of gene expression
- positive regulation of tongue muscle cell differentiation
- proximal/distal pattern formation
- regulation of T cell differentiation
- response to vitamin A
- retinoic acid catabolic process
- retinoic acid metabolic process
- retinoic acid receptor signaling pathway
- spermatogenesis
- tongue morphogenesis
- vitamin metabolic process
- xenobiotic metabolic process
Molecular functions
- all-trans retinoic acid 18-hydroxylase activity
- heme binding
- iron ion binding
- monooxygenase activity
- oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen
- retinoic acid 4-hydroxylase activity
- retinoic acid binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CYP26B1 as an antibody target. Whether an autoantibody or antibody against CYP26B1 could matter depends on whether native CYP26B1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CYP26B1 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 CYP26B1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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