Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
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

Catalyzes the first step in the oxidation of the side chain of sterol intermediates; the 27-hydroxylation of 5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol. Has also a vitamin D3-25-hydroxylase activity.By similarity

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'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.
View all proteins of this organism that are known to be involved in the pathway cholecalciferol biosynthesis and in Hormone biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 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

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
1.14.99.38 2681

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
UPA00955

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_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:
Sterol 26-hydroxylase, mitochondrial (EC:1.14.15.15By similarity)
Alternative name(s):
5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol 27-hydroxylase
Cytochrome P-450C27/25
Cytochrome P450 27
Sterol 27-hydroxylase
Vitamin D(3) 25-hydroxylase
<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:CYP27A1
Synonyms:CYP27
<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 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000135929.8

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

<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

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

Cerebrotendinous xanthomatosis (CTX)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionRare sterol storage disorder characterized clinically by progressive neurologic dysfunction, premature atherosclerosis, and cataracts.
See also OMIM:213700
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. 1 PublicationCorresponds to variant dbSNP:rs121908096EnsemblClinVar.1
Natural variantiVAR_012285395R → S in CTX. 1 PublicationCorresponds to variant dbSNP:rs121908096EnsemblClinVar.1
Natural variantiVAR_012286405R → Q in CTX. 1 PublicationCorresponds to variant dbSNP:rs121908099EnsemblClinVar.1
Natural variantiVAR_012287474R → Q in CTX. 1 PublicationCorresponds to variant dbSNP:rs121908097EnsemblClinVar.1
Natural variantiVAR_012288474R → W in CTX. 1 PublicationCorresponds to variant dbSNP:rs121908098EnsemblClinVar.1
Natural variantiVAR_001304479R → C in CTX. 1 PublicationCorresponds to variant dbSNP:rs72551322EnsemblClinVar.1

Keywords - Diseasei

Cataract, Disease mutation

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

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

IUPHAR/BPS Guide to PHARMACOLOGY

More...
GuidetoPHARMACOLOGYi
1369

Polymorphism and mutation 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.<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

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 human 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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000135929 Expressed in 210 organ(s), highest expression level in right lobe of liver

CleanEx database of gene expression profiles

More...
CleanExi
HS_CYP27A1

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
HPA059155

<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
107965, 6 interactors

Protein interaction database and analysis system

More...
IntActi
Q02318, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000258415

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q02318

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q02318

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

More...
SMRi
Q02318

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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
COG2124 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000154727

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000253961

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG106909

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q02318

KEGG Orthology (KO)

More...
KOi
K00488

Identification of Orthologs from Complete Genome Data

More...
OMAi
VIDDFMT

Database of Orthologous Groups

More...
OrthoDBi
EOG091G0MI3

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_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>Sequence (1+)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.

<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 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
« Hide
        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. 1 PublicationCorresponds to variant dbSNP:rs121908096EnsemblClinVar.1
Natural variantiVAR_012285395R → S in CTX. 1 PublicationCorresponds to variant dbSNP:rs121908096EnsemblClinVar.1
Natural variantiVAR_012286405R → Q in CTX. 1 PublicationCorresponds to variant dbSNP:rs121908099EnsemblClinVar.1
Natural variantiVAR_012287474R → Q in CTX. 1 PublicationCorresponds to variant dbSNP:rs121908097EnsemblClinVar.1
Natural variantiVAR_012288474R → W in CTX. 1 PublicationCorresponds to variant dbSNP:rs121908098EnsemblClinVar.1
Natural variantiVAR_001304479R → C in CTX. 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

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.516700

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

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

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
UniGeneiHs.516700

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[»]
ProteinModelPortaliQ02318
SMRiQ02318
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107965, 6 interactors
IntActiQ02318, 1 interactor
STRINGi9606.ENSP00000258415

Chemistry databases

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

PTM databases

iPTMnetiQ02318
PhosphoSitePlusiQ02318

Polymorphism and mutation databases

BioMutaiCYP27A1
DMDMi399288

Proteomic databases

EPDiQ02318
MaxQBiQ02318
PaxDbiQ02318
PeptideAtlasiQ02318
PRIDEiQ02318
ProteomicsDBi58080

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
1593
DisGeNETi1593
EuPathDBiHostDB:ENSG00000135929.8

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CYP27A1
GeneReviewsiCYP27A1
HGNCiHGNC:2605 CYP27A1
HPAiHPA059155
MalaCardsiCYP27A1
MIMi213700 phenotype
606530 gene
neXtProtiNX_Q02318
OpenTargetsiENSG00000135929
Orphaneti909 Cerebrotendinous xanthomatosis
PharmGKBiPA135

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0159 Eukaryota
COG2124 LUCA
GeneTreeiENSGT00940000154727
HOGENOMiHOG000253961
HOVERGENiHBG106909
InParanoidiQ02318
KOiK00488
OMAiVIDDFMT
OrthoDBiEOG091G0MI3
PhylomeDBiQ02318
TreeFamiTF105094

Enzyme and pathway databases

UniPathwayi
UPA00955

BRENDAi1.14.99.38 2681
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

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

Protein Ontology

More...
PROi
PR:Q02318

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000135929 Expressed in 210 organ(s), highest expression level in right lobe of liver
CleanExiHS_CYP27A1
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...

<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_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: July 1, 1993
Last sequence update: July 1, 1993
Last modified: December 5, 2018
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

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  7. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again