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Protein

Cholesterol 24-hydroxylase

Gene

CYP46A1

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

Involved in the turnover of cholesterol. It converts cholesterol into 24S-hydroxycholesterol and, to a lesser extent, 25-hydroxycholesterol. Has also activity with xenobiotic compounds, such as clotrimazole.2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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

heme3 Publications

<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=2.2 µM for 24(S)-hydroxycholesterol1 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Function’ 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 bindingi437Iron (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

    • cholesterol 24-hydroxylase activity Source: UniProtKB
    • heme binding Source: UniProtKB
    • iron ion binding Source: InterPro
    • steroid hydroxylase activity Source: ProtInc

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

    Enzyme and pathway databases

    BRENDA Comprehensive Enzyme Information System

    More...
    BRENDAi
    1.14.13.98 2681

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-193775 Synthesis of bile acids and bile salts via 24-hydroxycholesterol
    R-HSA-211976 Endogenous sterols

    SABIO-RK: Biochemical Reaction Kinetics Database

    More...
    SABIO-RKi
    Q9Y6A2

    Chemistry databases

    SwissLipids knowledge resource for lipid biology

    More...
    SwissLipidsi
    SLP:000001220 [Q9Y6A2-1]
    SLP:000001720

    <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_and_taxonomy_section">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:
    Cholesterol 24-hydroxylase (EC:1.14.14.251 Publication)
    Short name:
    CH24H
    Alternative name(s):
    Cytochrome P450 46A1
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:CYP46A1
    Synonyms:CYP46
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 14

    Organism-specific databases

    Eukaryotic Pathogen Database Resources

    More...
    EuPathDBi
    HostDB:ENSG00000036530.8

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:2641 CYP46A1

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    604087 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_Q9Y6A2

    <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; Source: COMPARTMENTS

    Topology

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei3 – 23HelicalSequence analysisAdd BLAST21

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane, Microsome

    <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

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    10858

    Open Targets

    More...
    OpenTargetsi
    ENSG00000036530

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA27117

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    CYP46A1

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    12585217

    <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 polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000519941 – 500Cholesterol 24-hydroxylaseAdd BLAST500

    Proteomic databases

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

    More...
    PaxDbi
    Q9Y6A2

    PeptideAtlas

    More...
    PeptideAtlasi
    Q9Y6A2

    PRoteomics IDEntifications database

    More...
    PRIDEi
    Q9Y6A2

    ProteomicsDB human proteome resource

    More...
    ProteomicsDBi
    86640

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    Q9Y6A2

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

    More...
    PhosphoSitePlusi
    Q9Y6A2

    <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 brain. The mRNA was broadly distributed with higher levels in gray matter zones and lower levels in regions rich in white matter. Not detected in fetal sample but its expression increases linearly with age.

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000036530 Expressed in 138 organ(s), highest expression level in caudate nucleus

    CleanEx database of gene expression profiles

    More...
    CleanExi
    HS_CYP46A1

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    Q9Y6A2 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    Q9Y6A2 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    HPA040702

    <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)

    More...
    BioGridi
    116069, 2 interactors

    Protein interaction database and analysis system

    More...
    IntActi
    Q9Y6A2, 1 interactor

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000261835

    <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

    Secondary structure

    1500
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    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
    2Q9FX-ray1.90A51-500[»]
    2Q9GX-ray2.40A51-500[»]
    3MDMX-ray1.60A51-500[»]
    3MDRX-ray2.00A/B51-500[»]
    3MDTX-ray2.30A/B51-500[»]
    3MDVX-ray2.40A/B51-500[»]
    4ENHX-ray2.50A51-500[»]
    4FIAX-ray2.10A51-500[»]
    4J14X-ray2.50A51-500[»]

    Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

    More...
    ProteinModelPortali
    Q9Y6A2

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

    More...
    SMRi
    Q9Y6A2

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...
    MobiDBi
    Search...

    Miscellaneous databases

    Relative evolutionary importance of amino acids within a protein sequence

    More...
    EvolutionaryTracei
    Q9Y6A2

    <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

    Compositional bias

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi493 – 499Poly-Pro7

    <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

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG0157 Eukaryota
    COG2124 LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00940000156927

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    HOG000290190

    The HOVERGEN Database of Homologous Vertebrate Genes

    More...
    HOVERGENi
    HBG102502

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    Q9Y6A2

    KEGG Orthology (KO)

    More...
    KOi
    K07440

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    TMILAGH

    Database of Orthologous Groups

    More...
    OrthoDBi
    825914at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    Q9Y6A2

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF352037

    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
    IPR039983 CYP46A1
    IPR001128 Cyt_P450
    IPR017972 Cyt_P450_CS
    IPR002401 Cyt_P450_E_grp-I
    IPR036396 Cyt_P450_sf

    The PANTHER Classification System

    More...
    PANTHERi
    PTHR24293 PTHR24293, 1 hit

    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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

    This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

    This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 1 (identifier: Q9Y6A2-1) [UniParc]FASTAAdd to basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide
            10         20         30         40         50
    MSPGLLLLGS AVLLAFGLCC TFVHRARSRY EHIPGPPRPS FLLGHLPCFW
    60 70 80 90 100
    KKDEVGGRVL QDVFLDWAKK YGPVVRVNVF HKTSVIVTSP ESVKKFLMST
    110 120 130 140 150
    KYNKDSKMYR ALQTVFGERL FGQGLVSECN YERWHKQRRV IDLAFSRSSL
    160 170 180 190 200
    VSLMETFNEK AEQLVEILEA KADGQTPVSM QDMLTYTAMD ILAKAAFGME
    210 220 230 240 250
    TSMLLGAQKP LSQAVKLMLE GITASRNTLA KFLPGKRKQL REVRESIRFL
    260 270 280 290 300
    RQVGRDWVQR RREALKRGEE VPADILTQIL KAEEGAQDDE GLLDNFVTFF
    310 320 330 340 350
    IAGHETSANH LAFTVMELSR QPEIVARLQA EVDEVIGSKR YLDFEDLGRL
    360 370 380 390 400
    QYLSQVLKES LRLYPPAWGT FRLLEEETLI DGVRVPGNTP LLFSTYVMGR
    410 420 430 440 450
    MDTYFEDPLT FNPDRFGPGA PKPRFTYFPF SLGHRSCIGQ QFAQMEVKVV
    460 470 480 490 500
    MAKLLQRLEF RLVPGQRFGL QEQATLKPLD PVLCTLRPRG WQPAPPPPPC
    Length:500
    Mass (Da):56,821
    Last modified:November 1, 1999 - 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:iAB9307749D9E5FDA
    GO
    Isoform 2 (identifier: Q9Y6A2-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-97: Missing.

    Note: No experimental confirmation available.
    Show »
    Length:403
    Mass (Da):45,976
    Checksum:iE47E531F99EAA940
    GO
    Isoform 3 (identifier: Q9Y6A2-3) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-153: Missing.
         383-392: Missing.

    Note: No experimental confirmation available.
    Show »
    Length:337
    Mass (Da):38,315
    Checksum:i43E23CB22A230FD7
    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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    G3V366G3V366_HUMAN
    Cholesterol 24-hydroxylase
    CYP46A1
    96Annotation 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>
    H0YJI0H0YJI0_HUMAN
    Cholesterol 24-hydroxylase
    CYP46A1
    164Annotation 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>
    H0YJU5H0YJU5_HUMAN
    Cholesterol 24-hydroxylase
    CYP46A1
    51Annotation 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>

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0538581 – 153Missing in isoform 3. 1 PublicationAdd BLAST153
    Alternative sequenceiVSP_0538591 – 97Missing in isoform 2. 1 PublicationAdd BLAST97
    Alternative sequenceiVSP_053860383 – 392Missing in isoform 3. 1 Publication10

    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
    AF094480 mRNA Translation: AAD41244.1
    AK090886 mRNA Translation: BAC03539.1
    AK295216 mRNA Translation: BAG58210.1
    AL136000 Genomic DNA No translation available.
    AL160313 Genomic DNA No translation available.
    BC022539 mRNA Translation: AAH22539.1

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS9954.1 [Q9Y6A2-1]

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_006659.1, NM_006668.1 [Q9Y6A2-1]

    UniGene gene-oriented nucleotide sequence clusters

    More...
    UniGenei
    Hs.25121

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000261835; ENSP00000261835; ENSG00000036530 [Q9Y6A2-1]
    ENST00000380228; ENSP00000369577; ENSG00000036530 [Q9Y6A2-2]

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    10858

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:10858

    UCSC genome browser

    More...
    UCSCi
    uc001ygo.4 human [Q9Y6A2-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    <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
    AF094480 mRNA Translation: AAD41244.1
    AK090886 mRNA Translation: BAC03539.1
    AK295216 mRNA Translation: BAG58210.1
    AL136000 Genomic DNA No translation available.
    AL160313 Genomic DNA No translation available.
    BC022539 mRNA Translation: AAH22539.1
    CCDSiCCDS9954.1 [Q9Y6A2-1]
    RefSeqiNP_006659.1, NM_006668.1 [Q9Y6A2-1]
    UniGeneiHs.25121

    3D structure databases

    Select the link destinations:
    PDBei
    RCSB PDBi
    PDBji
    Links Updated
    PDB entryMethodResolution (Å)ChainPositionsPDBsum
    2Q9FX-ray1.90A51-500[»]
    2Q9GX-ray2.40A51-500[»]
    3MDMX-ray1.60A51-500[»]
    3MDRX-ray2.00A/B51-500[»]
    3MDTX-ray2.30A/B51-500[»]
    3MDVX-ray2.40A/B51-500[»]
    4ENHX-ray2.50A51-500[»]
    4FIAX-ray2.10A51-500[»]
    4J14X-ray2.50A51-500[»]
    ProteinModelPortaliQ9Y6A2
    SMRiQ9Y6A2
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi116069, 2 interactors
    IntActiQ9Y6A2, 1 interactor
    STRINGi9606.ENSP00000261835

    Chemistry databases

    SwissLipidsiSLP:000001220 [Q9Y6A2-1]
    SLP:000001720

    PTM databases

    iPTMnetiQ9Y6A2
    PhosphoSitePlusiQ9Y6A2

    Polymorphism and mutation databases

    BioMutaiCYP46A1
    DMDMi12585217

    Proteomic databases

    PaxDbiQ9Y6A2
    PeptideAtlasiQ9Y6A2
    PRIDEiQ9Y6A2
    ProteomicsDBi86640

    Protocols and materials databases

    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000261835; ENSP00000261835; ENSG00000036530 [Q9Y6A2-1]
    ENST00000380228; ENSP00000369577; ENSG00000036530 [Q9Y6A2-2]
    GeneIDi10858
    KEGGihsa:10858
    UCSCiuc001ygo.4 human [Q9Y6A2-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    10858
    DisGeNETi10858
    EuPathDBiHostDB:ENSG00000036530.8

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    CYP46A1
    HGNCiHGNC:2641 CYP46A1
    HPAiHPA040702
    MIMi604087 gene
    neXtProtiNX_Q9Y6A2
    OpenTargetsiENSG00000036530
    PharmGKBiPA27117

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG0157 Eukaryota
    COG2124 LUCA
    GeneTreeiENSGT00940000156927
    HOGENOMiHOG000290190
    HOVERGENiHBG102502
    InParanoidiQ9Y6A2
    KOiK07440
    OMAiTMILAGH
    OrthoDBi825914at2759
    PhylomeDBiQ9Y6A2
    TreeFamiTF352037

    Enzyme and pathway databases

    BRENDAi1.14.13.98 2681
    ReactomeiR-HSA-193775 Synthesis of bile acids and bile salts via 24-hydroxycholesterol
    R-HSA-211976 Endogenous sterols
    SABIO-RKiQ9Y6A2

    Miscellaneous databases

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

    More...
    ChiTaRSi
    CYP46A1 human
    EvolutionaryTraceiQ9Y6A2

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    CYP46A1

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

    More...
    GenomeRNAii
    10858

    Protein Ontology

    More...
    PROi
    PR:Q9Y6A2

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000036530 Expressed in 138 organ(s), highest expression level in caudate nucleus
    CleanExiHS_CYP46A1
    ExpressionAtlasiQ9Y6A2 baseline and differential
    GenevisibleiQ9Y6A2 HS

    Family and domain databases

    Gene3Di1.10.630.10, 1 hit
    InterProiView protein in InterPro
    IPR039983 CYP46A1
    IPR001128 Cyt_P450
    IPR017972 Cyt_P450_CS
    IPR002401 Cyt_P450_E_grp-I
    IPR036396 Cyt_P450_sf
    PANTHERiPTHR24293 PTHR24293, 1 hit
    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...

    <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 nameiCP46A_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: Q9Y6A2
    Secondary accession number(s): B4DHP8, E7EQG9, Q8N2B0
    <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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 24, 2001
    Last sequence update: November 1, 1999
    Last modified: January 16, 2019
    This is version 167 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, Complete proteome, Reference proteome

    Documents

    1. SIMILARITY comments
      Index of protein domains and families
    2. Human chromosome 14
      Human chromosome 14: entries, gene names and cross-references to MIM
    3. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    4. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    UniProt is an ELIXIR core data resource
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