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UniProtKB - Q02318 (CP27A_HUMAN)

Entry version 201 (10 Feb 2021)
Sequence version 1 (01 Jul 1993)
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Protein

Sterol 26-hydroxylase, mitochondrial

Gene

CYP27A1

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

Cytochrome P450 monooxygenase that catalyzes regio- and stereospecific hydroxylation of cholesterol and its derivatives. Hydroxylates (with R stereochemistry) the terminal methyl group of cholesterol side-chain in a three step reaction to yield at first a C26 alcohol, then a C26 aldehyde and finally a C26 acid (PubMed:9660774, PubMed:12077124, PubMed:21411718, PubMed:28190002). Regulates cholesterol homeostasis by catalyzing the conversion of excess cholesterol to bile acids via both the 'neutral' (classic) and the 'acid' (alternative) pathways (PubMed:9660774, PubMed:1708392, PubMed:11412116, PubMed:2019602, PubMed:7915755, PubMed:9186905, PubMed:9790667). May also regulate cholesterol homeostasis via generation of active oxysterols, which act as ligands for NR1H2 and NR1H3 nuclear receptors, modulating the transcription of genes involved in lipid metabolism (PubMed:9660774, PubMed:12077124). Plays a role in cholestanol metabolism in the cerebellum. Similarly to cholesterol, hydroxylates cholestanol and may facilitate sterol diffusion through the blood-brain barrier to the systemic circulation for further degradation (PubMed:28190002). Also hydroxylates retinal 7-ketocholesterol, a noxious oxysterol with pro-inflammatory and pro-apoptotic effects, and may play a role in its elimination from the retinal pigment epithelium (PubMed:21411718). May play a redundant role in vitamin D biosynthesis. Catalyzes 25-hydroxylation of vitamin D3 that is required for its conversion to a functionally active form (PubMed:15465040).11 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 '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

kcat/KM=0.005 µmol/min for cholesterol and kcat/KM=0.018 µmol/min for (25R)-cholest-5-ene-3beta,26-diol.1 Publication
    1. Vmax=0.22 nmol/min/nmol enzyme toward cholesterol1 Publication
    2. Vmax=0.41 nmol/min/nmol enzyme toward 4beta-hydroxycholesterol1 Publication
    3. Vmax=0.20 mol/min/mol enzyme toward calciol1 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: cholecalciferol biosynthesis

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

    Pathwayi: cholesterol degradation

    This protein is involved in the pathway cholesterol degradation, which is part of Steroid metabolism.2 Publications
    View all proteins of this organism that are known to be involved in the pathway cholesterol degradation and in Steroid metabolism.

    Pathwayi: bile acid biosynthesis

    This protein is involved in the pathway bile acid biosynthesis, which is part of Lipid metabolism.1 Publication
    View all proteins of this organism that are known to be involved in the pathway bile acid biosynthesis and in Lipid metabolism.

    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 bindingi476Iron (heme axial ligand)1

    <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

    Complete GO annotation on QuickGO ...

    GO - Biological processi

    Complete GO annotation on QuickGO ...

    <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
    Biological processCholesterol metabolism, Lipid biosynthesis, Lipid metabolism, Steroid biosynthesis, Steroid metabolism, Sterol metabolism
    LigandHeme, Iron, Metal-binding

    Enzyme and pathway databases

    BRENDA Comprehensive Enzyme Information System

    More...    BRENDAi    		1.14.99.38, 2681

    Pathway Commons web resource for biological pathway data

    More...    PathwayCommonsi    		Q02318

    Reactome - a knowledgebase of biological pathways and processes

    More...    Reactomei    		R-HSA-193368, Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
    R-HSA-193775, Synthesis of bile acids and bile salts via 24-hydroxycholesterol
    R-HSA-193807, Synthesis of bile acids and bile salts via 27-hydroxycholesterol
    R-HSA-211976, Endogenous sterols
    R-HSA-5578996, Defective CYP27A1 causes Cerebrotendinous xanthomatosis (CTX)

    SIGNOR Signaling Network Open Resource

    More...    SIGNORi    		Q02318

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

    More...    UniPathwayi    		UPA00221
    UPA00955
    UPA01058

    Chemistry databases

    SwissLipids knowledge resource for lipid biology

    More...    SwissLipidsi    		SLP:000000142

    <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:
    Sterol 26-hydroxylase, mitochondrialBy similarity (EC:1.14.15.156 Publications)
    Alternative name(s):
    5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol 26-hydroxylase1 Publication
    Cytochrome P-450C27/25
    Cytochrome P450 27
    Sterol 27-hydroxylase1 Publication
    Vitamin D(3) 25-hydroxylase1 Publication
    <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:CYP27A11 PublicationImported
    Synonyms:CYP271 Publication
    <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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
    <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 2

    Organism-specific databases

    Human Gene Nomenclature Database

    More...    HGNCi    		HGNC:2605, CYP27A1

    Online Mendelian Inheritance in Man (OMIM)

    More...    MIMi    		606530, gene

    neXtProt; the human protein knowledge platform

    More...    neXtProti    		NX_Q02318

    Eukaryotic Pathogen, Vector and Host Database Resources

    More...    VEuPathDBi    		HostDB:ENSG00000135929.8

    <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, Mitochondrion inner membrane

    <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

    Cerebrotendinous xanthomatosis (CTX)5 Publications
    The disease is caused by variants affecting the gene represented in this entry.
    Disease descriptionRare sterol storage disorder characterized clinically by progressive neurologic dysfunction, premature atherosclerosis, and cataracts.
    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_016966145G → E in CTX. 1 PublicationCorresponds to variant dbSNP:rs72551313EnsemblClinVar.1
    Natural variantiVAR_001303395R → C in CTX; impairs sterol 26-hydroxylase activity. 1 PublicationCorresponds to variant dbSNP:rs121908096EnsemblClinVar.1
    Natural variantiVAR_012285395R → S in CTX; impairs sterol 26-hydroxylase activity. 1 PublicationCorresponds to variant dbSNP:rs121908096EnsemblClinVar.1
    Natural variantiVAR_012286405R → Q in CTX; impairs sterol 26-hydroxylase activity. 1 PublicationCorresponds to variant dbSNP:rs121908099EnsemblClinVar.1
    Natural variantiVAR_012287474R → Q in CTX; impairs sterol 26-hydroxylase activity. 1 PublicationCorresponds to variant dbSNP:rs121908097EnsemblClinVar.1
    Natural variantiVAR_012288474R → W in CTX; impairs sterol 26-hydroxylase activity. 1 PublicationCorresponds to variant dbSNP:rs121908098EnsemblClinVar.1
    Natural variantiVAR_001304479R → C in CTX; impairs sterol 26-hydroxylase activity. 1 PublicationCorresponds to variant dbSNP:rs72551322EnsemblClinVar.1

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi240F → A: Impairs sterol 26-hydroxylase activity; when associated with A-244 and A-248. 1 Publication1
    Mutagenesisi240F → K: Impairs sterol 26-hydroxylase activity. 1 Publication1
    Mutagenesisi244I → A: Impairs sterol 26-hydroxylase activity; when associated with A-240 and A-248. 1 Publication1
    Mutagenesisi244I → K: Impairs sterol 26-hydroxylase activity. 1 Publication1
    Mutagenesisi248F → A: Impairs sterol 26-hydroxylase activity; when associated with A-240 and A-244. 1 Publication1
    Mutagenesisi248F → K: Impairs sterol 26-hydroxylase activity; confers demethylase activity. 1 Publication1
    Mutagenesisi268W → A: Reduces sterol 26-hydroxylase activity. 1 Publication1
    Mutagenesisi271Y → A: Reduces sterol 26-hydroxylase activity. 1 Publication1

    Keywords - Diseasei

    Cataract, Disease variant

    Organism-specific databases

    DisGeNET

    More...    DisGeNETi    		1593

    GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

    More...    GeneReviewsi    		CYP27A1

    MalaCards human disease database

    More...    MalaCardsi    		CYP27A1
    MIMi213700, phenotype

    Open Targets

    More...    OpenTargetsi    		ENSG00000135929

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

    More...    Orphaneti    		909, Cerebrotendinous xanthomatosis

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...    PharmGKBi    		PA135

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...    Pharosi    		Q02318, Tchem

    Chemistry databases

    ChEMBL database of bioactive drug-like small molecules

    More...    ChEMBLi    		CHEMBL5992

    Drug and drug target database

    More...    DrugBanki    		DB06777, Chenodeoxycholic acid
    DB00169, Cholecalciferol
    DB06410, Doxercalciferol
    DB00153, Ergocalciferol
    DB00082, Pegvisomant

    DrugCentral

    More...    DrugCentrali    		Q02318

    IUPHAR/BPS Guide to PHARMACOLOGY

    More...    GuidetoPHARMACOLOGYi    		1369

    Genetic variation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...    BioMutai    		CYP27A1

    Domain mapping of disease mutations (DMDM)

    More...    DMDMi    		399288

    <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 – 33MitochondrionAdd BLAST33
    <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_000000361834 – 531Sterol 26-hydroxylase, mitochondrialAdd BLAST498

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei283N6-acetyllysineBy similarity1
    Modified residuei509N6-acetyllysineBy similarity1
    Modified residuei520N6-acetyllysineBy similarity1

    Keywords - PTMi

    Acetylation

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...    EPDi    		Q02318

    jPOST - Japan Proteome Standard Repository/Database

    More...    jPOSTi    		Q02318

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...    MassIVEi    		Q02318

    MaxQB - The MaxQuant DataBase

    More...    MaxQBi    		Q02318

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

    More...    PaxDbi    		Q02318

    PeptideAtlas

    More...    PeptideAtlasi    		Q02318

    PRoteomics IDEntifications database

    More...    PRIDEi    		Q02318

    ProteomicsDB: a multi-organism proteome resource

    More...    ProteomicsDBi    		58080

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...    iPTMneti    		Q02318

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

    More...    PhosphoSitePlusi    		Q02318

    <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

    Expressed in the neural retina and underlying retinal pigment epithelium (at protein level) (PubMed:21411718). Expressed in the gray and white matter of cerebellum (at protein level) (PubMed:28190002).2 Publications

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...    Bgeei    		ENSG00000135929, Expressed in right lobe of liver and 221 other tissues

    ExpressionAtlas, Differential and Baseline Expression

    More...    ExpressionAtlasi    		Q02318, baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...    Genevisiblei    		Q02318, HS

    Organism-specific databases

    Human Protein Atlas

    More...    HPAi    		ENSG00000135929, Tissue enhanced (liver)

    <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

    <p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

    Interacts with HSP70; this interaction is required for initial targeting to mitochondria.

    By similarity

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGRID)

    More...    BioGRIDi    		107965, 7 interactors

    Protein interaction database and analysis system

    More...    IntActi    		Q02318, 6 interactors

    STRING: functional protein association networks

    More...    STRINGi    		9606.ENSP00000258415

    Chemistry databases

    BindingDB database of measured binding affinities

    More...    BindingDBi    		Q02318

    Miscellaneous databases

    RNAct, Protein-RNA interaction predictions for model organisms.

    More...    RNActi    		Q02318, 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

    More...    SMRi    		Q02318

    Database of comparative protein structure models

    More...    ModBasei    		Search...

    Protein Data Bank in Europe - Knowledge Base

    More...    PDBe-KBi    		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

    Region

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni384 – 398Sterol-bindingSequence analysisAdd BLAST15

    <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

    More...    eggNOGi    		KOG0159, Eukaryota

    Ensembl GeneTree

    More...    GeneTreei    		ENSGT00950000182905

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...    HOGENOMi    		CLU_001570_28_3_1

    InParanoid: Eukaryotic Ortholog Groups

    More...    InParanoidi    		Q02318

    Identification of Orthologs from Complete Genome Data

    More...    OMAi    		SNTMTWA

    Database of Orthologous Groups

    More...    OrthoDBi    		871849at2759

    Database for complete collections of gene phylogenies

    More...    PhylomeDBi    		Q02318

    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

    More...    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

    Q02318-1 [UniParc]FASTAAdd to basket
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            10         20         30         40         50
    MAALGCARLR WALRGAGRGL CPHGARAKAA IPAALPSDKA TGAPGAGPGV 
            60         70         80         90        100
    RRRQRSLEEI PRLGQLRFFF QLFVQGYALQ LHQLQVLYKA KYGPMWMSYL 
           110        120        130        140        150
    GPQMHVNLAS APLLEQVMRQ EGKYPVRNDM ELWKEHRDQH DLTYGPFTTE 
           160        170        180        190        200
    GHHWYQLRQA LNQRLLKPAE AALYTDAFNE VIDDFMTRLD QLRAESASGN 
           210        220        230        240        250
    QVSDMAQLFY YFALEAICYI LFEKRIGCLQ RSIPEDTVTF VRSIGLMFQN 
           260        270        280        290        300
    SLYATFLPKW TRPVLPFWKR YLDGWNAIFS FGKKLIDEKL EDMEAQLQAA 
           310        320        330        340        350
    GPDGIQVSGY LHFLLASGQL SPREAMGSLP ELLMAGVDTT SNTLTWALYH 
           360        370        380        390        400
    LSKDPEIQEA LHEEVVGVVP AGQVPQHKDF AHMPLLKAVL KETLRLYPVV 
           410        420        430        440        450
    PTNSRIIEKE IEVDGFLFPK NTQFVFCHYV VSRDPTAFSE PESFQPHRWL 
           460        470        480        490        500
    RNSQPATPRI QHPFGSVPFG YGVRACLGRR IAELEMQLLL ARLIQKYKVV 
           510        520        530 
    LAPETGELKS VARIVLVPNK KVGLQFLQRQ C
    Length:531
    Mass (Da):60,235
    Last modified:July 1, 1993 - 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:i62025EB670DBD8E9
    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
    C9J1K5C9J1K5_HUMAN
    Sterol 26-hydroxylase, mitochondria...
    CYP27A1
    		221Annotation 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>
    F8WD90F8WD90_HUMAN
    Sterol 26-hydroxylase, mitochondria...
    CYP27A1
    		115Annotation 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 conflicti20 – 25LCPHGA → SAPTG in CAA42481 (PubMed:7690968).Curated6
    Sequence conflicti171A → R in CAA42481 (PubMed:7690968).Curated1
    Sequence conflicti359E → K in AAO21126 (Ref. 3) Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_016966145G → E in CTX. 1 PublicationCorresponds to variant dbSNP:rs72551313EnsemblClinVar.1
    Natural variantiVAR_061046169A → V. Corresponds to variant dbSNP:rs59443548EnsemblClinVar.1
    Natural variantiVAR_048467175T → M. Corresponds to variant dbSNP:rs2229381EnsemblClinVar.1
    Natural variantiVAR_001303395R → C in CTX; impairs sterol 26-hydroxylase activity. 1 PublicationCorresponds to variant dbSNP:rs121908096EnsemblClinVar.1
    Natural variantiVAR_012285395R → S in CTX; impairs sterol 26-hydroxylase activity. 1 PublicationCorresponds to variant dbSNP:rs121908096EnsemblClinVar.1
    Natural variantiVAR_012286405R → Q in CTX; impairs sterol 26-hydroxylase activity. 1 PublicationCorresponds to variant dbSNP:rs121908099EnsemblClinVar.1
    Natural variantiVAR_012287474R → Q in CTX; impairs sterol 26-hydroxylase activity. 1 PublicationCorresponds to variant dbSNP:rs121908097EnsemblClinVar.1
    Natural variantiVAR_012288474R → W in CTX; impairs sterol 26-hydroxylase activity. 1 PublicationCorresponds to variant dbSNP:rs121908098EnsemblClinVar.1
    Natural variantiVAR_001304479R → C in CTX; impairs sterol 26-hydroxylase activity. 1 PublicationCorresponds to variant dbSNP:rs72551322EnsemblClinVar.1

    Sequence databases

    Select the link destinations:

    EMBL nucleotide sequence database

    More...    EMBLi

    GenBank nucleotide sequence database

    More...    GenBanki

    DNA Data Bank of Japan; a nucleotide sequence database

    More...    DDBJi
    Links Updated
    		M62401 mRNA Translation: AAA52142.1
    X59812 mRNA Translation: CAA42481.1
    AY178622 mRNA Translation: AAO21126.1
    AK290418 mRNA Translation: BAF83107.1
    CH471063 Genomic DNA Translation: EAW70654.1
    BC040430 mRNA Translation: AAH40430.1
    BC051851 mRNA Translation: AAH51851.1
    S62709 Genomic DNA Translation: AAB27199.1

    The Consensus CDS (CCDS) project

    More...    CCDSi    		CCDS2423.1

    Protein sequence database of the Protein Information Resource

    More...    PIRi    		A39740

    NCBI Reference Sequences

    More...    RefSeqi    		NP_000775.1, NM_000784.3

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...    Ensembli    		ENST00000258415; ENSP00000258415; ENSG00000135929

    Database of genes from NCBI RefSeq genomes

    More...    GeneIDi    		1593

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...    KEGGi    		hsa:1593

    UCSC genome browser

    More...    UCSCi    		uc002viz.5, human

    <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

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    		M62401 mRNA Translation: AAA52142.1
    X59812 mRNA Translation: CAA42481.1
    AY178622 mRNA Translation: AAO21126.1
    AK290418 mRNA Translation: BAF83107.1
    CH471063 Genomic DNA Translation: EAW70654.1
    BC040430 mRNA Translation: AAH40430.1
    BC051851 mRNA Translation: AAH51851.1
    S62709 Genomic DNA Translation: AAB27199.1
    CCDSiCCDS2423.1
    PIRiA39740
    RefSeqiNP_000775.1, NM_000784.3

    3D structure databases

    Select the link destinations:

    Protein Data Bank Europe

    More...    PDBei

    Protein Data Bank RCSB

    More...    RCSB PDBi

    Protein Data Bank Japan

    More...    PDBji
    Links Updated
    		PDB entryMethodResolution (Å)ChainPositionsPDBsum
    1MFXmodel-A34-531[»]
    SMRiQ02318
    ModBaseiSearch...
    PDBe-KBiSearch...

    Protein-protein interaction databases

    BioGRIDi107965, 7 interactors
    IntActiQ02318, 6 interactors
    STRINGi9606.ENSP00000258415

    Chemistry databases

    BindingDBiQ02318
    ChEMBLiCHEMBL5992
    DrugBankiDB06777, Chenodeoxycholic acid
    DB00169, Cholecalciferol
    DB06410, Doxercalciferol
    DB00153, Ergocalciferol
    DB00082, Pegvisomant
    DrugCentraliQ02318
    GuidetoPHARMACOLOGYi1369
    SwissLipidsiSLP:000000142

    PTM databases

    iPTMnetiQ02318
    PhosphoSitePlusiQ02318

    Genetic variation databases

    BioMutaiCYP27A1
    DMDMi399288

    Proteomic databases

    EPDiQ02318
    jPOSTiQ02318
    MassIVEiQ02318
    MaxQBiQ02318
    PaxDbiQ02318
    PeptideAtlasiQ02318
    PRIDEiQ02318
    ProteomicsDBi58080

    Protocols and materials databases

    Antibodypedia a portal for validated antibodies

    More...    Antibodypediai    		34289, 273 antibodies

    Genome annotation databases

    EnsembliENST00000258415; ENSP00000258415; ENSG00000135929
    GeneIDi1593
    KEGGihsa:1593
    UCSCiuc002viz.5, human

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...    CTDi    		1593
    DisGeNETi1593

    GeneCards: human genes, protein and diseases

    More...    GeneCardsi    		CYP27A1
    GeneReviewsiCYP27A1
    HGNCiHGNC:2605, CYP27A1
    HPAiENSG00000135929, Tissue enhanced (liver)
    MalaCardsiCYP27A1
    MIMi213700, phenotype
    606530, gene
    neXtProtiNX_Q02318
    OpenTargetsiENSG00000135929
    Orphaneti909, Cerebrotendinous xanthomatosis
    PharmGKBiPA135
    VEuPathDBiHostDB:ENSG00000135929.8

    GenAtlas: human gene database

    More...    GenAtlasi    		Search...

    Phylogenomic databases

    eggNOGiKOG0159, Eukaryota
    GeneTreeiENSGT00950000182905
    HOGENOMiCLU_001570_28_3_1
    InParanoidiQ02318
    OMAiSNTMTWA
    OrthoDBi871849at2759
    PhylomeDBiQ02318
    TreeFamiTF105094

    Enzyme and pathway databases

    UniPathwayiUPA00221
    UPA00955
    UPA01058
    BRENDAi1.14.99.38, 2681
    PathwayCommonsiQ02318
    ReactomeiR-HSA-193368, Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
    R-HSA-193775, Synthesis of bile acids and bile salts via 24-hydroxycholesterol
    R-HSA-193807, Synthesis of bile acids and bile salts via 27-hydroxycholesterol
    R-HSA-211976, Endogenous sterols
    R-HSA-5578996, Defective CYP27A1 causes Cerebrotendinous xanthomatosis (CTX)
    SIGNORiQ02318

    Miscellaneous databases

    BioGRID ORCS database of CRISPR phenotype screens

    More...    BioGRID-ORCSi    		1593, 2 hits in 875 CRISPR screens

    ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

    More...    ChiTaRSi    		CYP27A1, human

    The Gene Wiki collection of pages on human genes and proteins

    More...    GeneWikii    		CYP27A1

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

    More...    GenomeRNAii    		1593
    PharosiQ02318, Tchem

    Protein Ontology

    More...    PROi    		PR:Q02318
    RNActiQ02318, protein

    The Stanford Online Universal Resource for Clones and ESTs

    More...    SOURCEi    		Search...

    Gene expression databases

    BgeeiENSG00000135929, Expressed in right lobe of liver and 221 other tissues
    ExpressionAtlasiQ02318, baseline and differential
    GenevisibleiQ02318, 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

    More...    ProtoNeti    		Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...    MobiDBi    		Search...

    <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 nameiCP27A_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: Q02318
    Secondary accession number(s): A8K303, Q6LDB4, Q86YQ6
    <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 1, 1993
    Last sequence update: July 1, 1993
    Last modified: February 10, 2021
    This is version 201 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

    3D-structure, Reference proteome

    Documents

    1. Human entries with genetic variants
      List of human entries with genetic variants
    2. Human variants curated from literature reports
      Index of human variants curated from literature reports
    3. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    4. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families
    7. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
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