Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1594
Gene name	Cytochrome P450 family 27 subfamily B member 1
Gene symbol	CYP27B1
Synonyms (NCBI Gene)	CP2BCYP1CYP1alphaCYP27BP450c1PDDRVDD1VDDRVDDRIVDR
Chromosome	12
Chromosome location	12q14.1
Summary	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. The protein encode

Show/Hide all (23)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28934604	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs28934605	C>T	Pathogenic	Missense variant, coding sequence variant
rs28934606	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs28934607	G>A	Pathogenic	Missense variant, coding sequence variant
rs118204007	G>C	Pathogenic	Coding sequence variant, missense variant
rs118204008	G>A	Pathogenic	Coding sequence variant, missense variant
rs118204009	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs118204010	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs118204011	G>A	Pathogenic	Coding sequence variant, missense variant
rs118204012	T>C	Pathogenic	Coding sequence variant, missense variant
rs387906258	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906259	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906260	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs555068245	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs568165874	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs759208930	C>T	Pathogenic	Missense variant, coding sequence variant
rs761780097	C>G,T	Pathogenic	Splice donor variant
rs763437121	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant
rs767480544	G>A	Pathogenic	Coding sequence variant, missense variant
rs770204470	C>T	Pathogenic	Splice donor variant
rs780950819	->GGGTGGG	Pathogenic	Frameshift variant, coding sequence variant
rs1057520815	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555202494	C>T	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all (68)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029947	hsa-miR-26b-5p	Microarray	19088304
MIRT051080	hsa-miR-16-5p	CLASH	23622248
MIRT049861	hsa-miR-31-5p	CLASH	23622248
MIRT711962	hsa-miR-1178-5p	HITS-CLIP	19536157
MIRT711961	hsa-miR-18a-3p	HITS-CLIP	19536157
MIRT711960	hsa-miR-5681a	HITS-CLIP	19536157
MIRT711959	hsa-miR-4290	HITS-CLIP	19536157
MIRT711958	hsa-miR-6882-3p	HITS-CLIP	19536157
MIRT711957	hsa-miR-1292-5p	HITS-CLIP	19536157
MIRT711956	hsa-miR-4471	HITS-CLIP	19536157
MIRT711955	hsa-miR-8059	HITS-CLIP	19536157
MIRT711954	hsa-miR-6894-3p	HITS-CLIP	19536157
MIRT711962	hsa-miR-1178-5p	HITS-CLIP	19536157
MIRT711961	hsa-miR-18a-3p	HITS-CLIP	19536157
MIRT711960	hsa-miR-5681a	HITS-CLIP	19536157
MIRT711959	hsa-miR-4290	HITS-CLIP	19536157
MIRT711958	hsa-miR-6882-3p	HITS-CLIP	19536157
MIRT711957	hsa-miR-1292-5p	HITS-CLIP	19536157
MIRT711956	hsa-miR-4471	HITS-CLIP	19536157
MIRT711955	hsa-miR-8059	HITS-CLIP	19536157
MIRT711954	hsa-miR-6894-3p	HITS-CLIP	19536157
MIRT711962	hsa-miR-1178-5p	HITS-CLIP	19536157
MIRT711961	hsa-miR-18a-3p	HITS-CLIP	19536157
MIRT711960	hsa-miR-5681a	HITS-CLIP	19536157
MIRT711959	hsa-miR-4290	HITS-CLIP	19536157
MIRT711958	hsa-miR-6882-3p	HITS-CLIP	19536157
MIRT711957	hsa-miR-1292-5p	HITS-CLIP	19536157
MIRT711956	hsa-miR-4471	HITS-CLIP	19536157
MIRT711955	hsa-miR-8059	HITS-CLIP	19536157
MIRT711954	hsa-miR-6894-3p	HITS-CLIP	19536157
MIRT711962	hsa-miR-1178-5p	HITS-CLIP	19536157
MIRT711961	hsa-miR-18a-3p	HITS-CLIP	19536157
MIRT711960	hsa-miR-5681a	HITS-CLIP	19536157
MIRT711959	hsa-miR-4290	HITS-CLIP	19536157
MIRT711958	hsa-miR-6882-3p	HITS-CLIP	19536157
MIRT711957	hsa-miR-1292-5p	HITS-CLIP	19536157
MIRT711956	hsa-miR-4471	HITS-CLIP	19536157
MIRT711955	hsa-miR-8059	HITS-CLIP	19536157
MIRT711954	hsa-miR-6894-3p	HITS-CLIP	19536157
MIRT921207	hsa-miR-133a	CLIP-seq
MIRT921208	hsa-miR-133b	CLIP-seq
MIRT921209	hsa-miR-146a	CLIP-seq
MIRT921210	hsa-miR-146b-5p	CLIP-seq
MIRT921211	hsa-miR-3675-5p	CLIP-seq
MIRT921212	hsa-miR-4251	CLIP-seq
MIRT921213	hsa-miR-4278	CLIP-seq
MIRT921214	hsa-miR-4324	CLIP-seq
MIRT921215	hsa-miR-486-3p	CLIP-seq
MIRT921216	hsa-miR-589	CLIP-seq
MIRT1972958	hsa-miR-1207-5p	CLIP-seq
MIRT1972959	hsa-miR-3144-3p	CLIP-seq
MIRT1972960	hsa-miR-3171	CLIP-seq
MIRT1972961	hsa-miR-3200-3p	CLIP-seq
MIRT1972962	hsa-miR-4763-3p	CLIP-seq
MIRT1972963	hsa-miR-875-5p	CLIP-seq
MIRT1972964	hsa-miR-935	CLIP-seq
MIRT2208551	hsa-miR-103a	CLIP-seq
MIRT2208552	hsa-miR-107	CLIP-seq
MIRT2208553	hsa-miR-15a	CLIP-seq
MIRT2208554	hsa-miR-15b	CLIP-seq
MIRT2208555	hsa-miR-16	CLIP-seq
MIRT2208556	hsa-miR-195	CLIP-seq
MIRT2208557	hsa-miR-424	CLIP-seq
MIRT2208558	hsa-miR-4530	CLIP-seq
MIRT2208559	hsa-miR-4662a-5p	CLIP-seq
MIRT2208560	hsa-miR-4676-5p	CLIP-seq
MIRT2208561	hsa-miR-497	CLIP-seq
MIRT2208562	hsa-miR-575	CLIP-seq

Show/Hide all (3)

Transcription factor	Regulation	Reference
GFI1	Repression	15947108;17207994
NFKB1	Unknown	19928584
RELA	Unknown	19928584

Show/Hide all (52)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004497	Function	Monooxygenase activity	IEA
GO:0004498	Function	Calcidiol 1-monooxygenase activity	IBA
GO:0004498	Function	Calcidiol 1-monooxygenase activity	IDA	9415400, 15795327, 16549446, 17023519, 22862690
GO:0004498	Function	Calcidiol 1-monooxygenase activity	IEA
GO:0004498	Function	Calcidiol 1-monooxygenase activity	TAS
GO:0005506	Function	Iron ion binding	IEA
GO:0005737	Component	Cytoplasm	IDA	15589699, 16720713
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005739	Component	Mitochondrion	TAS	9333115
GO:0005741	Component	Mitochondrial outer membrane	TAS
GO:0006066	Process	Alcohol metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006766	Process	Vitamin metabolic process	TAS
GO:0006816	Process	Calcium ion transport	IEA
GO:0006816	Process	Calcium ion transport	ISS
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	16549446
GO:0008610	Process	Lipid biosynthetic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016705	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA
GO:0020037	Function	Heme binding	IEA
GO:0030282	Process	Bone mineralization	IEP	17023519
GO:0030308	Process	Negative regulation of cell growth	IMP	12496369
GO:0030500	Process	Regulation of bone mineralization	IMP	9415400
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0032496	Process	Response to lipopolysaccharide	IDA	12855575
GO:0033280	Process	Response to vitamin D	IBA
GO:0033280	Process	Response to vitamin D	IDA	16549446
GO:0034341	Process	Response to type II interferon	IDA	9282826
GO:0036378	Process	Calcitriol biosynthetic process from calciol	IBA
GO:0036378	Process	Calcitriol biosynthetic process from calciol	IDA	9415400, 15795327, 16549446, 17023519, 22862690
GO:0036378	Process	Calcitriol biosynthetic process from calciol	IEA
GO:0042359	Process	Vitamin D metabolic process	IDA	9415400
GO:0042359	Process	Vitamin D metabolic process	IEA
GO:0042359	Process	Vitamin D metabolic process	TAS
GO:0042368	Process	Vitamin D biosynthetic process	IEA
GO:0042369	Process	Vitamin D catabolic process	IBA
GO:0042369	Process	Vitamin D catabolic process	IEA
GO:0043627	Process	Response to estrogen	IEP	15795327
GO:0044283	Process	Small molecule biosynthetic process	IEA
GO:0045618	Process	Positive regulation of keratinocyte differentiation	IMP	12496369
GO:0046697	Process	Decidualization	IEP	16720713
GO:0046872	Function	Metal ion binding	IEA
GO:0055074	Process	Calcium ion homeostasis	IMP	9415400
GO:0062185	Function	Secalciferol 1-monooxygenase activity	IDA	10518789
GO:0062185	Function	Secalciferol 1-monooxygenase activity	IEA
GO:0070314	Process	G1 to G0 transition	IMP	12496369
GO:0070564	Process	Positive regulation of vitamin D receptor signaling pathway	IDA	16549446
GO:0071305	Process	Cellular response to vitamin D	IEA

MIM	HGNC	e!Ensembl
609506	2606	ENSG00000111012

O15528

Protein name

25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial (EC 1.14.15.18) (25-OHD-1 alpha-hydroxylase) (25-hydroxyvitamin D(3) 1-alpha-hydroxylase) (VD3 1A hydroxylase) (Calcidiol 1-monooxygenase) (Cytochrome P450 subfamily XXVIIB polypeptide 1) (Cytochrome

Protein function

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

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00067	p450	41 → 505	Cytochrome P450	Domain

Tissue specificity

TISSUE SPECIFICITY: Kidney. {ECO:0000269|PubMed:9428799, ECO:0000269|PubMed:9486994}.

Sequence

MTQTLKYASRVFHRVRWAPELGASLGYREYHSARRSLADIPGPSTPSFLAELFCKGGLSR
LHELQVQGAAHFGPVWLASFGTVRTVYVAAPALVEELLRQEGPRPERCSFSPWTEHRRCR
QRACGLLTAEGEEWQRLRSLLAPLLLRPQAAARYAGTLNNVVCDLVRRLRRQRGRGTGPP
ALVRDVAGEFYKFGLEGIAAVLLGSRLGCLEAQVPPDTETFIRAVGSVFVSTLLTMAMPH
WLRHLVPGPWGRLCRDWDQMFAFAQRHVERREAEAAMRNGGQPEKDLESGAHLTHFLFRE
ELPAQSILGNVTELLLAGVDTVSNTLSWALYELSRHPEVQTALHSEITAALSPGSSAYPS
ATVLSQLPLLKAVVKEVLRLYPVVPGNSRVPDKDIHVGDYIIPKNTLVTLCHYATSRDPA
QFPEPNSFRPARWLGEGPTPHPFASLPFGFGKRSCMGRRLAELELQMALAQILTHFEVQP
EPGAAPVRPKTRTVLVPERSINLQFLDR

Sequence length

508

Interactions

View interactions

	KEGG		Reactome
	Steroid biosynthesis Metabolic pathways Parathyroid hormone synthesis, secretion and action Tuberculosis		Vitamin D (calciferol) metabolism Vitamins Defective CYP27B1 causes Rickets vitamin D-dependent 1A (VDDR1A)

159

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
CYP27B1-related disorder	Pathogenic; Likely pathogenic	rs387906260, rs759208930, rs780950819	RCV004755698 RCV003417870 RCV004755835
Hepatocellular carcinoma	Pathogenic	rs761780097	RCV005887196
Multiple sclerosis, susceptibility to	Pathogenic; Likely pathogenic	rs568165874, rs767480544	RCV003987480 RCV004761850
Vitamin D-dependent rickets, type 1	Likely pathogenic; Pathogenic	rs2140397587, rs2140397019, rs2140396410, rs28934604, rs118204009, rs780950819, rs1057520815, rs555068245, rs767480544	RCV001843328 RCV001843329 RCV001843330 RCV000001725 RCV000001736 RCV001028038 RCV000723316 RCV000626155 RCV000988872
Vitamin D-dependent rickets, type 1A	Likely pathogenic; Pathogenic	rs1955335874, rs1222556174, rs1450111961, rs2140397164, rs2140397262, rs118204010, rs2140396112, rs2140397587, rs2140396224, rs376304260, rs28934604, rs28934605, rs28934606, rs387906258, rs387906259 View all (21 more)	RCV005624652 RCV005005229 RCV005635128 RCV001614475 RCV001780604 RCV005006048 RCV001780912 RCV005006081 RCV001843693 RCV005635378 RCV001195100 RCV000001726 RCV000001727 RCV000001729 RCV000001730 RCV000001731 RCV000001733 RCV000001734 RCV000001735 RCV001195099 RCV000001737 RCV000001738 RCV000001739 RCV000001740 RCV002249854 RCV002284044 RCV005406492 RCV001329404 RCV005008226 RCV001808725 RCV004801370 RCV005003688 RCV004783097 RCV004586045 RCV001843547 RCV002479154 RCV002479372 RCV005012643 RCV001823195

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Vitamin D-dependent rickets	Uncertain significance	rs886049722	RCV000269964

Show/Hide Text Mining Associations (82)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abortion Habitual	Inhibit	28033387
Addison Disease	Associate	24614117
Adenoma	Stimulate	22511602
Adenoma Islet Cell	Associate	23979957
Arthritis Rheumatoid	Associate	34925313
Asthma	Associate	36839181
Autism Spectrum Disorder	Associate	26073892
Autoimmune Diseases	Associate	23614044, 25060765
Bipolar Disorder	Associate	35279108
Bone Diseases Metabolic	Associate	30887870
Breast Neoplasms	Associate	16280049, 17878529, 26632252, 31041852
Breast Neoplasms	Inhibit	19331145
Carcinogenesis	Associate	28821819
Carcinoma Basal Cell	Associate	15077124
Carcinoma Non Small Cell Lung	Associate	25544771, 34836039, 36364930
Carcinoma Squamous Cell	Associate	27765924
Cardiovascular Diseases	Inhibit	40237935
Chronic Kidney Disease Mineral and Bone Disorder	Associate	33211721
Colonic Neoplasms	Associate	12899539, 17257827
Colorectal Neoplasms	Associate	19706847, 21084270, 23423976, 28009432, 28665452, 28821819, 31434255, 32260235, 33058307
Coronary Artery Disease	Associate	24736319
COVID 19	Associate	34147082, 36833234
Crohn Disease	Stimulate	30429108
Cytomegalovirus Infections	Associate	34578991
Diabetes Gestational	Associate	32407388
Diabetes Mellitus	Associate	40237935
Diabetes Mellitus Type 1	Associate	17606874, 21441443, 25060765, 37170809
Diabetes Mellitus Type 2	Associate	32542627
Drug Related Side Effects and Adverse Reactions	Associate	35752163
Fasciculation	Associate	26253396
Fat Necrosis	Associate	18811689
Glioblastoma	Associate	16886678
Heart Failure	Associate	19891555
Hepatitis B Chronic	Associate	25060765
Hereditary Breast and Ovarian Cancer Syndrome	Associate	16886688
HIV Infections	Associate	23877860
Hyperbilirubinemia Neonatal	Associate	37259065
Hypercalcemia	Associate	26253396, 30290590, 35965075
Hyperparathyroidism Secondary	Associate	23186957
Hypertension	Associate	19891555, 28827564, 36983047
Hypocalcemia	Associate	27353739
Inflammation	Associate	26253396
Inflammatory Bowel Diseases	Associate	30429108
Lupus Erythematosus Systemic	Associate	33594806
Lupus Erythematosus Systemic	Inhibit	36326421
Lupus Nephritis	Associate	36326421
Lymphoma Large B Cell Diffuse	Associate	35965075
Malacoplakia	Associate	30290590
Melanoma	Associate	17172823, 22576141, 22995334, 25334067, 31235702
Multiple Sclerosis	Associate	20648053, 21431378, 23160276, 24308945, 25526461, 32518073, 32540991, 33484325, 34855907, 34977256
Myopathies Structural Congenital	Associate	39333342
N syndrome	Associate	22992568
Neoplasm Invasiveness	Inhibit	20831823
Neoplasm Metastasis	Associate	22511602, 26632252
Neoplasm Metastasis	Inhibit	22995334
Neoplasms	Associate	16886678, 19331145, 25501638, 25544771, 26241700, 26501255, 35488273, 39333342
Nephritis	Associate	36326421
Nephrocalcinosis	Associate	27353739, 33004071
Obesity	Associate	28787727, 35712242
Obesity	Inhibit	31652924
Osteosarcoma	Associate	40148931
Ovarian Neoplasms	Associate	19667158, 25501638
Parkinson Disease	Associate	35166042
Prostatic Neoplasms	Associate	18649741, 20687218, 21358824, 25488826, 32102946
Psoriasis	Associate	23995795
Pulmonary Disease Chronic Obstructive	Associate	39583968
Rickets	Associate	22855339, 25371233, 33004071
Seminoma	Associate	37242266
Spasm	Associate	27353739
Thyroid Carcinoma Anaplastic	Associate	22511602
Thyroid Neoplasms	Stimulate	22511602
Thyroid Neoplasms	Associate	22690899
Turner Syndrome	Associate	30887870
Urinary Tract Infections	Associate	34578991
Urologic Diseases	Associate	31235702
Uveal melanoma	Associate	31235702
Uveitis	Associate	23614044
Uveomeningoencephalitic Syndrome	Associate	27716192
Vitamin D Deficiency	Associate	22855339, 23877860, 30993743, 34578991, 35256680, 37259065
Vitamin D Dependent Rickets Type 2A	Associate	11737215, 33004071
Vitamin D Hydroxylation Deficient Rickets Type 1A	Associate	10320521, 1971995, 23444327, 25371233, 26132292, 27353739, 35600579, 35663328, 9486994
Xanthomatosis Cerebrotendinous	Associate	11737215

CYP27B1 (cytochrome P450 family 27 subfamily B member 1)