CYP27B1

Chr 12q14.1

cytochrome P450 family 27 subfamily B member 1

Aliases:: CYP1, P450c1
MANE:: ENST00000228606.9

OMIM: 609506 ↗NCBI: 1594 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CYP27B1 · O15528

v62025-08-01

Predicted Aligned Error matrix for CYP27B1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.8/ 100

Confident

508 residues

Confidence breakdown

Very high(≥ 90)69%
Confident(70–90)20%
Low(50–70)3%
Very low(< 50)8%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Hypophosphataemia or rickets
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

vitamin D-dependent rickets, type 1A
0.82
Hypocalcemic vitamin D-dependent rickets
0.77
vitamin D-dependent rickets, type 1
0.64
hereditary disease
0.42
rickets
0.38
Abnormality of the skeletal system
0.10
rheumatoid arthritis
0.09
pyknoachondrogenesis
0.09
X-linked osteoporosis with fractures
0.09
type 1 diabetes mellitus
0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial

A cytochrome P450 monooxygenase involved in vitamin D metabolism and in calcium and phosphorus homeostasis. Catalyzes the rate-limiting step in the activation of vitamin D in the kidney, namely the hydroxylation of 25-hydroxyvitamin D3/calcidiol at the C1alpha-position to form the hormonally active form of vitamin D3, 1alpha,25-dihydroxyvitamin D3/calcitriol that acts via the vitamin D receptor (VDR) (PubMed:10518789, PubMed:10566658, PubMed:12050193, PubMed:22862690, PubMed:9486994). Has 1alpha-hydroxylase activity on vitamin D intermediates of the CYP24A1-mediated inactivation pathway (PubMed:10518789, PubMed:22862690). Converts 24R,25-dihydroxyvitamin D3/secalciferol to 1-alpha,24,25-trihydroxyvitamin D3, an active ligand of VDR. Also active on 25-hydroxyvitamin D2 (PubMed:10518789). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via FDXR/adrenodoxin reductase and FDX1/adrenodoxin (PubMed:22862690)