Cyp27b1 Gene Summary [Mouse]
Enables calcidiol 1-monooxygenase activity. Involved in calcitriol biosynthetic process from calciol; response to vitamin D; and vitamin D catabolic process. Acts upstream of or within calcium ion transport. Located in mitochondrion. Is expressed in several structures, including extraembryonic component; lower jaw molar; metanephros; and reproductive system. Used to study rickets. Human ortholog(s) of this gene implicated in hepatitis B; obesity; rickets; type 1 diabetes mellitus; and vitamin D-dependent rickets type 1A. Orthologous to human CYP27B1 (cytochrome P450 family 27 subfamily B member 1). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Cyp27b1 |
| Official Name | cytochrome P450, family 27, subfamily b, polypeptide 1 [Source:MGI Symbol;Acc:MGI:1098274] |
| Ensembl ID | ENSMUSG00000006724 |
| Bio databases IDs | |
| Aliases | cytochrome P450, family 27, subfamily b, polypeptide 1 |
| Synonyms | 1Alpha-Hydroxylase, 1-Hydroxylase, 25-Hydroxyvitamin D-1-α-Hydroxylase, 25 Hydroxyvitamin D3 1Alpha Hydroxylase, CP2B, CYP1, CYP1alpha, CYP27B, Cyp40, cytochrome P450 family 27 subfamily B member 1, cytochrome P450, family 27, subfamily b, polypeptide 1, LOC100909462, P450c1, P450c1 alpha, P450c1 α, PDDR, VDD1, VDDR, VDDRI, VDR, Vitamin D1 alpha-hydroxylase, Vitamin D 1-Hydroxylase, Vitamin D1 α-hydroxylase |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Cyp27b1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- cytochrome P450 (CYP) superfamily
- Cytochrome P450
- monooxygenase
- enzyme
- calcidiol 1-monooxygenase
Pathways
Biological processes and signaling networks where the Cyp27b1 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hypoplasia
- vitamin D-dependent rickets type 1A
- vitamin d-dependent rickets, type 1
- hereditary disorder
- weight gain
- breast hyperplasia
- growth failure
- hypophosphatemia
- parathyroid cancer
- diabetic nephropathy
role in cell
- growth
- expression in
- apoptosis
- number
- proliferation
- quantity
- differentiation
- ossification by
- suppression in
- mineralization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- cytosol
- mitochondrial outer membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Cyp27b1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of keratinocyte differentiation
- response to estrogen stimulus
- calcium ion homeostasis
- response to vitamin D
- bone mineralization
- response to interferon-gamma
- negative regulation of cell proliferation
- decidualization
- vitamin metabolic process
- vitamin D catabolic process
- vitamin D metabolic process
- negative regulation of calcidiol 1-monooxygenase activity
- negative regulation of cell growth
- calcium ion transport
- G1 to G0 transition
- positive regulation of vitamin D receptor signaling pathway
- response to lipopolysaccharide
- positive regulation of vitamin D 24-hydroxylase activity
- regulation of bone mineralization
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- mitochondrion
- mitochondrial outer membrane
Molecular Function
What the gene product does at the molecular level
- iron ion binding
- calcidiol 1-monooxygenase activity
- heme binding