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Entry version 187 (12 Aug 2020)
Sequence version 1 (01 Jan 1998)
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Protein

25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial

Gene

CYP27B1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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:9486994, PubMed:22862690, PubMed:10566658, PubMed:12050193). 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).5 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

hemeBy similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Activated by cardiolipin and dioleoyl phosphatidylethanolamine (DOPE), phospholipids found in the inner mitochondrial membrane. Inhibited by high substrate concentration.1 Publication

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=2.7 µM for 25-hydroxyvitamin D31 Publication
  2. KM=1.1 µM for 24,25-dihydroxyvitamin D31 Publication
  3. KM=0.9 µM for 25-hydroxyvitamin D31 Publication
  1. Vmax=3.9 pmol/min/mg enzyme toward 25-hydroxyvitamin D31 Publication
  2. Vmax=3.2 pmol/min/mg enzyme toward 24,25-dihydroxyvitamin D31 Publication
  3. Vmax=1.3 nmol/min/mg enzyme toward 25-hydroxyvitamin D31 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: vitamin D biosynthesis

This protein is involved in the pathway vitamin D biosynthesis, which is part of Hormone biosynthesis.1 Publication
View all proteins of this organism that are known to be involved in the pathway vitamin D biosynthesis and in Hormone biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi455Iron (heme axial ligand)By similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionMonooxygenase, Oxidoreductase
LigandHeme, Iron, Metal-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
1.14.13.13, 2681

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
O15528

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-196791, Vitamin D (calciferol) metabolism
R-HSA-211916, Vitamins
R-HSA-5579014, Defective CYP27B1 causes Rickets vitamin D-dependent 1A (VDDR1A)

SIGNOR Signaling Network Open Resource

More...
SIGNORi
O15528

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00954

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000001478

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CYP27B1
Synonyms:CYP1ALPHA, CYP27B
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000111012.9

Human Gene Nomenclature Database

More...
HGNCi
HGNC:2606, CYP27B1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
609506, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O15528

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Membrane, Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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 PublicationCorresponds to variant dbSNP:rs1161799032Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
1594

MalaCards human disease database

More...
MalaCardsi
CYP27B1
MIMi264700, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000111012

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
289157, Hypocalcemic vitamin D-dependent rickets

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27099

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
O15528, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL5993

Drug and drug target database

More...
DrugBanki
DB01436, Alfacalcidol
DB00146, Calcifediol
DB01285, Corticotropin
DB00153, Ergocalciferol
DB11094, Vitamin D

DrugCentral

More...
DrugCentrali
O15528

IUPHAR/BPS Guide to PHARMACOLOGY

More...
GuidetoPHARMACOLOGYi
1370

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CYP27B1

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – ?MitochondrionSequence analysis
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_0000003622? – 50825-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O15528

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
O15528

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
O15528

PeptideAtlas

More...
PeptideAtlasi
O15528

PRoteomics IDEntifications database

More...
PRIDEi
O15528

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
48734

Consortium for Top Down Proteomics

More...
TopDownProteomicsi
O15528

PTM databases

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O15528

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Kidney.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000111012, Expressed in adult mammalian kidney and 121 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O15528, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O15528, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000111012, Tissue enriched (kidney)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
107966, 3 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000228606

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
O15528

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
O15528, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O15528

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the cytochrome P450 family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0159, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00950000182905

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_001570_28_3_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O15528

KEGG Orthology (KO)

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KOi
K07438

Identification of Orthologs from Complete Genome Data

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OMAi
MAMPQWL

Database of Orthologous Groups

More...
OrthoDBi
574756at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O15528

TreeFam database of animal gene trees

More...
TreeFami
TF105094

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.630.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001128, Cyt_P450
IPR017972, Cyt_P450_CS
IPR002401, Cyt_P450_E_grp-I
IPR036396, Cyt_P450_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00067, p450, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00463, EP450I
PR00385, P450

Superfamily database of structural and functional annotation

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SUPFAMi
SSF48264, SSF48264, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00086, CYTOCHROME_P450, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>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.Show allAlign 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i7F0611EFAD1B5C1C
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
V9GYP0V9GYP0_HUMAN
25-hydroxyvitamin D-1 alpha hydroxy...
CYP27B1
234Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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 PublicationCorresponds to variant dbSNP:rs1161799032Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS8954.1

Protein sequence database of the Protein Information Resource

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PIRi
JC5713

NCBI Reference Sequences

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RefSeqi
NP_000776.1, NM_000785.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000228606; ENSP00000228606; ENSG00000111012

Database of genes from NCBI RefSeq genomes

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GeneIDi
1594

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:1594

UCSC genome browser

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UCSCi
uc001spz.2, human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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

3D structure databases

SMRiO15528
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi107966, 3 interactors
STRINGi9606.ENSP00000228606

Chemistry databases

BindingDBiO15528
ChEMBLiCHEMBL5993
DrugBankiDB01436, Alfacalcidol
DB00146, Calcifediol
DB01285, Corticotropin
DB00153, Ergocalciferol
DB11094, Vitamin D
DrugCentraliO15528
GuidetoPHARMACOLOGYi1370
SwissLipidsiSLP:000001478

PTM databases

PhosphoSitePlusiO15528

Polymorphism and mutation databases

BioMutaiCYP27B1

Proteomic databases

EPDiO15528
MassIVEiO15528
PaxDbiO15528
PeptideAtlasiO15528
PRIDEiO15528
ProteomicsDBi48734
TopDownProteomicsiO15528

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
55993, 129 antibodies

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
1594
DisGeNETi1594
EuPathDBiHostDB:ENSG00000111012.9

GeneCards: human genes, protein and diseases

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GeneCardsi
CYP27B1
HGNCiHGNC:2606, CYP27B1
HPAiENSG00000111012, Tissue enriched (kidney)
MalaCardsiCYP27B1
MIMi264700, phenotype
609506, gene
neXtProtiNX_O15528
OpenTargetsiENSG00000111012
Orphaneti289157, Hypocalcemic vitamin D-dependent rickets
PharmGKBiPA27099

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG0159, Eukaryota
GeneTreeiENSGT00950000182905
HOGENOMiCLU_001570_28_3_1
InParanoidiO15528
KOiK07438
OMAiMAMPQWL
OrthoDBi574756at2759
PhylomeDBiO15528
TreeFamiTF105094

Enzyme and pathway databases

UniPathwayiUPA00954
BRENDAi1.14.13.13, 2681
PathwayCommonsiO15528
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

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
1594, 41 hits in 873 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
25-Hydroxyvitamin_D3_1-alpha-hydroxylase

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
1594
PharosiO15528, Tchem

Protein Ontology

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PROi
PR:O15528
RNActiO15528, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000111012, Expressed in adult mammalian kidney and 121 other tissues
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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCP27B_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O15528
Secondary accession number(s): B2RC61, Q548T3
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: January 1, 1998
Last modified: August 12, 2020
This is version 187 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families
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