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Protein

25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial

Gene

CYP27B1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalyzes the conversion of 25-hydroxyvitamin D3 (25(OH)D3) to 1-alpha,25-dihydroxyvitamin D3 (1alpha,25(OH)2D3), and of 24,25-dihydroxyvitamin D3 (24,25(OH)2D3) to 1-alpha,24,25-trihydroxyvitamin D3 (1alpha,24,25(OH)3D3). Is also active with 25-hydroxy-24-oxo-vitamin D3. Plays an important role in normal bone growth, calcium metabolism, and tissue differentiation.1 Publication

Catalytic activityi

Calcidiol + 2 reduced adrenodoxin + 2 H+ + O2 = calcitriol + 2 oxidized adrenodoxin + H2O.1 Publication
Secalciferol + 2 reduced adrenodoxin + 2 H+ + O2 = calcitetrol + 2 oxidized adrenodoxin + H2O.1 Publication

Cofactori

hemeBy similarity

Kineticsi

  1. KM=2.7 µM for 25-hydroxyvitamin D31 Publication
  2. KM=1.1 µM for 24,25-dihydroxyvitamin D31 Publication
  1. Vmax=3.9 pmol/min/mg enzyme with 25-hydroxyvitamin D3 as substrate1 Publication
  2. Vmax=3.2 pmol/min/mg enzyme with 24,25-dihydroxyvitamin D3 as substrate1 Publication

Pathwayi: cholecalciferol biosynthesis

This protein is involved in the pathway cholecalciferol biosynthesis, which is part of Hormone biosynthesis.
View all proteins of this organism that are known to be involved in the pathway cholecalciferol biosynthesis and in Hormone biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi455Iron (heme axial ligand)By similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionMonooxygenase, Oxidoreductase
LigandHeme, Iron, Metal-binding

Enzyme and pathway databases

BRENDAi1.14.13.13 2681
ReactomeiR-HSA-196791 Vitamin D (calciferol) metabolism
R-HSA-211916 Vitamins
R-HSA-5579014 Defective CYP27B1 causes Rickets vitamin D-dependent 1A (VDDR1A)
SIGNORiO15528
UniPathwayi
UPA00955

Chemistry databases

SwissLipidsiSLP:000001478

Names & Taxonomyi

Protein namesi
Recommended name:
25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial (EC:1.14.15.181 Publication)
Alternative name(s):
25-OHD-1 alpha-hydroxylase
25-hydroxyvitamin D(3) 1-alpha-hydroxylase
Short name:
VD3 1A hydroxylase
Calcidiol 1-monooxygenase
Cytochrome P450 subfamily XXVIIB polypeptide 1
Cytochrome P450C1 alpha
Cytochrome P450VD1-alpha
Cytochrome p450 27B1
Gene namesi
Name:CYP27B1
Synonyms:CYP1ALPHA, CYP27B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000111012.9
HGNCiHGNC:2606 CYP27B1
MIMi609506 gene
neXtProtiNX_O15528

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Membrane, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Rickets vitamin D-dependent 1A (VDDR1A)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder caused by a selective deficiency of the active form of vitamin D (1,25-dihydroxyvitamin D3) and resulting in defective bone mineralization and clinical features of rickets.
See also OMIM:264700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01696965Q → H in VDDR1A. 1 PublicationCorresponds to variant dbSNP:rs868704228Ensembl.1
Natural variantiVAR_016952107R → H in VDDR1A; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs28934604EnsemblClinVar.1
Natural variantiVAR_016953125G → E in VDDR1A; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs28934605EnsemblClinVar.1
Natural variantiVAR_016954189E → G in VDDR1A; 22% of wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs118204012EnsemblClinVar.1
Natural variantiVAR_016967189E → K in VDDR1A; 11% of wild-type activity. 1 Publication1
Natural variantiVAR_016955321T → R in VDDR1A; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs118204007EnsemblClinVar.1
Natural variantiVAR_016970323S → Y in VDDR1A. 1 Publication1
Natural variantiVAR_016956335R → P in VDDR1A; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs28934606EnsemblClinVar.1
Natural variantiVAR_016957343L → F in VDDR1A; 2.3% of wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs118204011EnsemblClinVar.1
Natural variantiVAR_016958382P → S in VDDR1A; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs28934607EnsemblClinVar.1
Natural variantiVAR_016968389R → C in VDDR1A; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs118204010EnsemblClinVar.1
Natural variantiVAR_016960389R → G in VDDR1A; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs118204010EnsemblClinVar.1
Natural variantiVAR_016959389R → H in VDDR1A; complete loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs118204009EnsemblClinVar.1
Natural variantiVAR_016961409T → I in VDDR1A. 2 PublicationsCorresponds to variant dbSNP:rs118204008EnsemblClinVar.1
Natural variantiVAR_016971429R → P in VDDR1A. 1 PublicationCorresponds to variant dbSNP:rs568165874EnsemblClinVar.1
Natural variantiVAR_016972453R → C in VDDR1A. 1 PublicationCorresponds to variant dbSNP:rs767480544Ensembl.1
Natural variantiVAR_016973478V → G in VDDR1A. 1 Publication1
Natural variantiVAR_016974497P → R in VDDR1A. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi1594
MalaCardsiCYP27B1
MIMi264700 phenotype
OpenTargetsiENSG00000111012
Orphaneti289157 Hypocalcemic vitamin D-dependent rickets
PharmGKBiPA27099

Chemistry databases

ChEMBLiCHEMBL5993
DrugBankiDB01436 Alfacalcidol
DB00146 Calcidiol
DB01285 Corticotropin
DB00153 Ergocalciferol
GuidetoPHARMACOLOGYi1370

Polymorphism and mutation databases

BioMutaiCYP27B1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_0000003622? – 50825-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial
Transit peptidei1 – ?MitochondrionSequence analysis

Proteomic databases

EPDiO15528
PaxDbiO15528
PeptideAtlasiO15528
PRIDEiO15528
ProteomicsDBi48734
TopDownProteomicsiO15528

PTM databases

PhosphoSitePlusiO15528

Expressioni

Tissue specificityi

Kidney.

Gene expression databases

BgeeiENSG00000111012 Expressed in 98 organ(s), highest expression level in adult mammalian kidney
CleanExiHS_CYP27B1
ExpressionAtlasiO15528 baseline and differential
GenevisibleiO15528 HS

Interactioni

Protein-protein interaction databases

BioGridi107966, 3 interactors
STRINGi9606.ENSP00000228606

Chemistry databases

BindingDBiO15528

Structurei

3D structure databases

ProteinModelPortaliO15528
SMRiO15528
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the cytochrome P450 family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG0159 Eukaryota
COG2124 LUCA
GeneTreeiENSGT00900000140779
HOGENOMiHOG000253961
HOVERGENiHBG106909
InParanoidiO15528
KOiK07438
OMAiNSWRFAP
OrthoDBiEOG091G0MI3
PhylomeDBiO15528
TreeFamiTF105094

Family and domain databases

Gene3Di1.10.630.10, 1 hit
InterProiView protein in InterPro
IPR001128 Cyt_P450
IPR017972 Cyt_P450_CS
IPR002401 Cyt_P450_E_grp-I
IPR036396 Cyt_P450_sf
PfamiView protein in Pfam
PF00067 p450, 1 hit
PRINTSiPR00463 EP450I
PR00385 P450
SUPFAMiSSF48264 SSF48264, 1 hit
PROSITEiView protein in PROSITE
PS00086 CYTOCHROME_P450, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.iShow all

O15528-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MTQTLKYASR VFHRVRWAPE LGASLGYREY HSARRSLADI PGPSTPSFLA
60 70 80 90 100
ELFCKGGLSR LHELQVQGAA HFGPVWLASF GTVRTVYVAA PALVEELLRQ
110 120 130 140 150
EGPRPERCSF SPWTEHRRCR QRACGLLTAE GEEWQRLRSL LAPLLLRPQA
160 170 180 190 200
AARYAGTLNN VVCDLVRRLR RQRGRGTGPP ALVRDVAGEF YKFGLEGIAA
210 220 230 240 250
VLLGSRLGCL EAQVPPDTET FIRAVGSVFV STLLTMAMPH WLRHLVPGPW
260 270 280 290 300
GRLCRDWDQM FAFAQRHVER REAEAAMRNG GQPEKDLESG AHLTHFLFRE
310 320 330 340 350
ELPAQSILGN VTELLLAGVD TVSNTLSWAL YELSRHPEVQ TALHSEITAA
360 370 380 390 400
LSPGSSAYPS ATVLSQLPLL KAVVKEVLRL YPVVPGNSRV PDKDIHVGDY
410 420 430 440 450
IIPKNTLVTL CHYATSRDPA QFPEPNSFRP ARWLGEGPTP HPFASLPFGF
460 470 480 490 500
GKRSCMGRRL AELELQMALA QILTHFEVQP EPGAAPVRPK TRTVLVPERS

INLQFLDR
Length:508
Mass (Da):56,504
Last modified:January 1, 1998 - v1
Checksum:i7F0611EFAD1B5C1C
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8VWR7F8VWR7_HUMAN
25-hydroxyvitamin D-1 alpha hydroxy...
CYP27B1
157Annotation score:
V9GYP0V9GYP0_HUMAN
25-hydroxyvitamin D-1 alpha hydroxy...
CYP27B1
234Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti320D → N in BAG37458 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01696965Q → H in VDDR1A. 1 PublicationCorresponds to variant dbSNP:rs868704228Ensembl.1
Natural variantiVAR_016952107R → H in VDDR1A; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs28934604EnsemblClinVar.1
Natural variantiVAR_016953125G → E in VDDR1A; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs28934605EnsemblClinVar.1
Natural variantiVAR_018841166V → L1 PublicationCorresponds to variant dbSNP:rs8176344Ensembl.1
Natural variantiVAR_016954189E → G in VDDR1A; 22% of wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs118204012EnsemblClinVar.1
Natural variantiVAR_016967189E → K in VDDR1A; 11% of wild-type activity. 1 Publication1
Natural variantiVAR_016955321T → R in VDDR1A; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs118204007EnsemblClinVar.1
Natural variantiVAR_016970323S → Y in VDDR1A. 1 Publication1
Natural variantiVAR_016956335R → P in VDDR1A; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs28934606EnsemblClinVar.1
Natural variantiVAR_016957343L → F in VDDR1A; 2.3% of wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs118204011EnsemblClinVar.1
Natural variantiVAR_016958382P → S in VDDR1A; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs28934607EnsemblClinVar.1
Natural variantiVAR_016968389R → C in VDDR1A; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs118204010EnsemblClinVar.1
Natural variantiVAR_016960389R → G in VDDR1A; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs118204010EnsemblClinVar.1
Natural variantiVAR_016959389R → H in VDDR1A; complete loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs118204009EnsemblClinVar.1
Natural variantiVAR_016961409T → I in VDDR1A. 2 PublicationsCorresponds to variant dbSNP:rs118204008EnsemblClinVar.1
Natural variantiVAR_016971429R → P in VDDR1A. 1 PublicationCorresponds to variant dbSNP:rs568165874EnsemblClinVar.1
Natural variantiVAR_016972453R → C in VDDR1A. 1 PublicationCorresponds to variant dbSNP:rs767480544Ensembl.1
Natural variantiVAR_016973478V → G in VDDR1A. 1 Publication1
Natural variantiVAR_016974497P → R in VDDR1A. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF027152 Genomic DNA Translation: AAC51854.1
AB005038 mRNA Translation: BAA23416.1
AB005989 mRNA Translation: BAA22656.1
AB005990 Genomic DNA Translation: BAA22657.1
AB006987 Genomic DNA Translation: BAA23418.1
AF020192 mRNA Translation: AAC51853.1
AF256213 Genomic DNA Translation: AAG00416.1
AF246895 mRNA Translation: AAF64299.1
AY288916 Genomic DNA Translation: AAP31972.1
AK314953 mRNA Translation: BAG37458.1
CH471054 Genomic DNA Translation: EAW97067.1
BC136386 mRNA Translation: AAI36387.1
CCDSiCCDS8954.1
PIRiJC5713
RefSeqiNP_000776.1, NM_000785.3
UniGeneiHs.524528

Genome annotation databases

EnsembliENST00000228606; ENSP00000228606; ENSG00000111012
GeneIDi1594
KEGGihsa:1594
UCSCiuc001spz.2 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF027152 Genomic DNA Translation: AAC51854.1
AB005038 mRNA Translation: BAA23416.1
AB005989 mRNA Translation: BAA22656.1
AB005990 Genomic DNA Translation: BAA22657.1
AB006987 Genomic DNA Translation: BAA23418.1
AF020192 mRNA Translation: AAC51853.1
AF256213 Genomic DNA Translation: AAG00416.1
AF246895 mRNA Translation: AAF64299.1
AY288916 Genomic DNA Translation: AAP31972.1
AK314953 mRNA Translation: BAG37458.1
CH471054 Genomic DNA Translation: EAW97067.1
BC136386 mRNA Translation: AAI36387.1
CCDSiCCDS8954.1
PIRiJC5713
RefSeqiNP_000776.1, NM_000785.3
UniGeneiHs.524528

3D structure databases

ProteinModelPortaliO15528
SMRiO15528
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107966, 3 interactors
STRINGi9606.ENSP00000228606

Chemistry databases

BindingDBiO15528
ChEMBLiCHEMBL5993
DrugBankiDB01436 Alfacalcidol
DB00146 Calcidiol
DB01285 Corticotropin
DB00153 Ergocalciferol
GuidetoPHARMACOLOGYi1370
SwissLipidsiSLP:000001478

PTM databases

PhosphoSitePlusiO15528

Polymorphism and mutation databases

BioMutaiCYP27B1

Proteomic databases

EPDiO15528
PaxDbiO15528
PeptideAtlasiO15528
PRIDEiO15528
ProteomicsDBi48734
TopDownProteomicsiO15528

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000228606; ENSP00000228606; ENSG00000111012
GeneIDi1594
KEGGihsa:1594
UCSCiuc001spz.2 human

Organism-specific databases

CTDi1594
DisGeNETi1594
EuPathDBiHostDB:ENSG00000111012.9
GeneCardsiCYP27B1
H-InvDBiHIX0171662
HGNCiHGNC:2606 CYP27B1
MalaCardsiCYP27B1
MIMi264700 phenotype
609506 gene
neXtProtiNX_O15528
OpenTargetsiENSG00000111012
Orphaneti289157 Hypocalcemic vitamin D-dependent rickets
PharmGKBiPA27099
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0159 Eukaryota
COG2124 LUCA
GeneTreeiENSGT00900000140779
HOGENOMiHOG000253961
HOVERGENiHBG106909
InParanoidiO15528
KOiK07438
OMAiNSWRFAP
OrthoDBiEOG091G0MI3
PhylomeDBiO15528
TreeFamiTF105094

Enzyme and pathway databases

UniPathwayi
UPA00955

BRENDAi1.14.13.13 2681
ReactomeiR-HSA-196791 Vitamin D (calciferol) metabolism
R-HSA-211916 Vitamins
R-HSA-5579014 Defective CYP27B1 causes Rickets vitamin D-dependent 1A (VDDR1A)
SIGNORiO15528

Miscellaneous databases

GeneWikii25-Hydroxyvitamin_D3_1-alpha-hydroxylase
GenomeRNAii1594
PROiPR:O15528
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000111012 Expressed in 98 organ(s), highest expression level in adult mammalian kidney
CleanExiHS_CYP27B1
ExpressionAtlasiO15528 baseline and differential
GenevisibleiO15528 HS

Family and domain databases

Gene3Di1.10.630.10, 1 hit
InterProiView protein in InterPro
IPR001128 Cyt_P450
IPR017972 Cyt_P450_CS
IPR002401 Cyt_P450_E_grp-I
IPR036396 Cyt_P450_sf
PfamiView protein in Pfam
PF00067 p450, 1 hit
PRINTSiPR00463 EP450I
PR00385 P450
SUPFAMiSSF48264 SSF48264, 1 hit
PROSITEiView protein in PROSITE
PS00086 CYTOCHROME_P450, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCP27B_HUMAN
AccessioniPrimary (citable) accession number: O15528
Secondary accession number(s): B2RC61, Q548T3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: January 1, 1998
Last modified: September 12, 2018
This is version 175 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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