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Protein

Lanosterol 14-alpha demethylase

Gene

CYP51A1

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 C14-demethylation of lanosterol; it transforms lanosterol into 4,4'-dimethyl cholesta-8,14,24-triene-3-beta-ol.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

heme1 Publication

<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: zymosterol biosynthesis

This protein is involved in step 1 of the subpathway that synthesizes zymosterol from lanosterol.1 Publication
Proteins known to be involved in the 6 steps of the subpathway in this organism are:
  1. Lanosterol 14-alpha demethylase (CYP51A1)
  2. no protein annotated in this organism
  3. Methylsterol monooxygenase 1 (MSMO1)
  4. Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating (NSDHL)
  5. 3-keto-steroid reductase (HSD17B7)
  6. no protein annotated in this organism
This subpathway is part of the pathway zymosterol biosynthesis, which is itself part of Steroid biosynthesis.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes zymosterol from lanosterol, the pathway zymosterol biosynthesis and in Steroid 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 bindingi449Iron (heme axial ligand)1 Publication1

<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

  • heme binding Source: UniProtKB
  • iron ion binding Source: InterPro
  • sterol 14-demethylase activity Source: UniProtKB

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 biosynthesis, Cholesterol metabolism, Lipid biosynthesis, Lipid metabolism, Steroid biosynthesis, Steroid metabolism, Sterol biosynthesis, Sterol metabolism
LigandHeme, Iron, Metal-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS00076-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
1.14.13.70 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-191273 Cholesterol biosynthesis
R-HSA-211976 Endogenous sterols
R-HSA-2426168 Activation of gene expression by SREBF (SREBP)

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

More...
UniPathwayi
UPA00770;UER00754

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000001162

<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:
Lanosterol 14-alpha demethylase (EC:1.14.14.1542 Publications)
Short name:
LDM
Alternative name(s):
CYPLI
Cytochrome P450 51A1
Cytochrome P450-14DM
Short name:
Cytochrome P45014DM
Cytochrome P450LI
Sterol 14-alpha demethylase
<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:CYP51A1
Synonyms:CYP51
<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 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000001630.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:2649 CYP51A1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
601637 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q16850

<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>Transmembranei24 – 44HelicalSequence 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
1595

Open Targets

More...
OpenTargetsi
ENSG00000001630

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27123

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3849

Drug and drug target database

More...
DrugBanki
DB01167 Itraconazole
DB01026 Ketoconazole
DB00916 Metronidazole
DB01045 Rifampicin
DB01153 Sertaconazole
DB01007 Tioconazole

IUPHAR/BPS Guide to PHARMACOLOGY

More...
GuidetoPHARMACOLOGYi
1374

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CYP51A1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
3915660

<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_00000519981 – 503Lanosterol 14-alpha demethylaseAdd BLAST503

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q16850

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q16850

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q16850

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

More...
PaxDbi
Q16850

PeptideAtlas

More...
PeptideAtlasi
Q16850

PRoteomics IDEntifications database

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PRIDEi
Q16850

ProteomicsDB human proteome resource

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ProteomicsDBi
61101
61102 [Q16850-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q16850

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

More...
PhosphoSitePlusi
Q16850

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q16850

<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

Ubiquitously expressed with highest levels in testis, ovary, adrenal, prostate, liver, kidney and lung.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000001630 Expressed in 98 organ(s), highest expression level in adrenal tissue

CleanEx database of gene expression profiles

More...
CleanExi
HS_CYP51A1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q16850 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q16850 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA041325
HPA043508

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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
107967, 41 interactors

Protein interaction database and analysis system

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IntActi
Q16850, 7 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000003100

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q16850

<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

1503
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3JUSX-ray2.90A/B54-502[»]
3JUVX-ray3.12A54-502[»]
3LD6X-ray2.80A/B54-502[»]
4UHIX-ray2.04A/B/C/D61-503[»]
4UHLX-ray2.50A/B/C/D/E/F/G/H61-503[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q16850

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

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SMRi
Q16850

Database of comparative protein structure models

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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
Q16850

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

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

Belongs to the cytochrome P450 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0684 Eukaryota
COG2124 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00930000151026

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG051102

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q16850

KEGG Orthology (KO)

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KOi
K05917

Database of Orthologous Groups

More...
OrthoDBi
559299at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q16850

TreeFam database of animal gene trees

More...
TreeFami
TF105091

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
IPR002403 Cyt_P450_E_grp-IV
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
PR00465 EP450IV
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 (2+)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 2 <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 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q16850-1) [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
MLLLGLLQAG GSVLGQAMEK VTGGNLLSML LIACAFTLSL VYLIRLAAGH
60 70 80 90 100
LVQLPAGVKS PPYIFSPIPF LGHAIAFGKS PIEFLENAYE KYGPVFSFTM
110 120 130 140 150
VGKTFTYLLG SDAAALLFNS KNEDLNAEDV YSRLTTPVFG KGVAYDVPNP
160 170 180 190 200
VFLEQKKMLK SGLNIAHFKQ HVSIIEKETK EYFESWGESG EKNVFEALSE
210 220 230 240 250
LIILTASHCL HGKEIRSQLN EKVAQLYADL DGGFSHAAWL LPGWLPLPSF
260 270 280 290 300
RRRDRAHREI KDIFYKAIQK RRQSQEKIDD ILQTLLDATY KDGRPLTDDE
310 320 330 340 350
VAGMLIGLLL AGQHTSSTTS AWMGFFLARD KTLQKKCYLE QKTVCGENLP
360 370 380 390 400
PLTYDQLKDL NLLDRCIKET LRLRPPIMIM MRMARTPQTV AGYTIPPGHQ
410 420 430 440 450
VCVSPTVNQR LKDSWVERLD FNPDRYLQDN PASGEKFAYV PFGAGRHRCI
460 470 480 490 500
GENFAYVQIK TIWSTMLRLY EFDLIDGYFP TVNYTTMIHT PENPVIRYKR

RSK
Length:503
Mass (Da):56,806
Last modified:December 15, 1998 - v3
<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:i4FCEC147FB4DED86
GO
Isoform 2 (identifier: Q16850-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-99: Missing.

Note: No experimental confirmation available.
Show »
Length:404
Mass (Da):46,312
Checksum:i2D5198C9B55ED478
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
A0A0C4DFL7A0A0C4DFL7_HUMAN
Lanosterol 14-alpha demethylase
CYP51A1
509Annotation score:

Annotation score:2 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>
H7C0D0H7C0D0_HUMAN
Lanosterol 14-alpha demethylase
CYP51A1
222Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAB39951 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAB46356 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAH32322 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAA09512 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAG36881 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence EAL24154 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence EAW76858 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

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 conflicti270K → E in BAG36881 (PubMed:14702039).Curated1
Sequence conflicti272R → T in AAC50951 (PubMed:8975714).Curated1
Sequence conflicti368K → R in AAC50951 (PubMed:8975714).Curated1
Sequence conflicti377I → V in AAH32322 (PubMed:15489334).Curated1

Natural variant

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_02347013V → A. Corresponds to variant dbSNP:rs2229188Ensembl.1

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_0374131 – 99Missing in isoform 2. 1 PublicationAdd BLAST99

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
U23942 mRNA Translation: AAB39951.1 Different initiation.
D55653 mRNA Translation: BAA09512.1 Different initiation.
U51692
, U51684, U51685, U51686, U51687, U51688, U51689, U51690, U51691 Genomic DNA Translation: AAC50951.1
AK314205 mRNA Translation: BAG36881.1 Different initiation.
AK295932 mRNA Translation: BAG58717.1
AC000120 Genomic DNA Translation: AAB46356.1 Different initiation.
CH236949 Genomic DNA Translation: EAL24154.1 Different initiation.
CH471091 Genomic DNA Translation: EAW76858.1 Different initiation.
CH471091 Genomic DNA Translation: EAW76859.1
BC032322 mRNA Translation: AAH32322.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS55123.1 [Q16850-2]

Protein sequence database of the Protein Information Resource

More...
PIRi
JC4759
S68855

NCBI Reference Sequences

More...
RefSeqi
NP_000777.1, NM_000786.3
NP_001139624.1, NM_001146152.1 [Q16850-2]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.417077

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000450723; ENSP00000406757; ENSG00000001630 [Q16850-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
1595

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:1595

UCSC genome browser

More...
UCSCi
uc003ulm.5 human [Q16850-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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
U23942 mRNA Translation: AAB39951.1 Different initiation.
D55653 mRNA Translation: BAA09512.1 Different initiation.
U51692
, U51684, U51685, U51686, U51687, U51688, U51689, U51690, U51691 Genomic DNA Translation: AAC50951.1
AK314205 mRNA Translation: BAG36881.1 Different initiation.
AK295932 mRNA Translation: BAG58717.1
AC000120 Genomic DNA Translation: AAB46356.1 Different initiation.
CH236949 Genomic DNA Translation: EAL24154.1 Different initiation.
CH471091 Genomic DNA Translation: EAW76858.1 Different initiation.
CH471091 Genomic DNA Translation: EAW76859.1
BC032322 mRNA Translation: AAH32322.1 Different initiation.
CCDSiCCDS55123.1 [Q16850-2]
PIRiJC4759
S68855
RefSeqiNP_000777.1, NM_000786.3
NP_001139624.1, NM_001146152.1 [Q16850-2]
UniGeneiHs.417077

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3JUSX-ray2.90A/B54-502[»]
3JUVX-ray3.12A54-502[»]
3LD6X-ray2.80A/B54-502[»]
4UHIX-ray2.04A/B/C/D61-503[»]
4UHLX-ray2.50A/B/C/D/E/F/G/H61-503[»]
ProteinModelPortaliQ16850
SMRiQ16850
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107967, 41 interactors
IntActiQ16850, 7 interactors
STRINGi9606.ENSP00000003100

Chemistry databases

BindingDBiQ16850
ChEMBLiCHEMBL3849
DrugBankiDB01167 Itraconazole
DB01026 Ketoconazole
DB00916 Metronidazole
DB01045 Rifampicin
DB01153 Sertaconazole
DB01007 Tioconazole
GuidetoPHARMACOLOGYi1374
SwissLipidsiSLP:000001162

PTM databases

iPTMnetiQ16850
PhosphoSitePlusiQ16850
SwissPalmiQ16850

Polymorphism and mutation databases

BioMutaiCYP51A1
DMDMi3915660

Proteomic databases

EPDiQ16850
jPOSTiQ16850
MaxQBiQ16850
PaxDbiQ16850
PeptideAtlasiQ16850
PRIDEiQ16850
ProteomicsDBi61101
61102 [Q16850-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
1595
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000450723; ENSP00000406757; ENSG00000001630 [Q16850-2]
GeneIDi1595
KEGGihsa:1595
UCSCiuc003ulm.5 human [Q16850-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
1595
DisGeNETi1595
EuPathDBiHostDB:ENSG00000001630.15

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CYP51A1
HGNCiHGNC:2649 CYP51A1
HPAiHPA041325
HPA043508
MIMi601637 gene
neXtProtiNX_Q16850
OpenTargetsiENSG00000001630
PharmGKBiPA27123

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0684 Eukaryota
COG2124 LUCA
GeneTreeiENSGT00930000151026
HOVERGENiHBG051102
InParanoidiQ16850
KOiK05917
OrthoDBi559299at2759
PhylomeDBiQ16850
TreeFamiTF105091

Enzyme and pathway databases

UniPathwayi
UPA00770;UER00754

BioCyciMetaCyc:HS00076-MONOMER
BRENDAi1.14.13.70 2681
ReactomeiR-HSA-191273 Cholesterol biosynthesis
R-HSA-211976 Endogenous sterols
R-HSA-2426168 Activation of gene expression by SREBF (SREBP)

Miscellaneous databases

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

More...
ChiTaRSi
CYP51A1 human
EvolutionaryTraceiQ16850

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

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GenomeRNAii
1595

Protein Ontology

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PROi
PR:Q16850

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000001630 Expressed in 98 organ(s), highest expression level in adrenal tissue
CleanExiHS_CYP51A1
ExpressionAtlasiQ16850 baseline and differential
GenevisibleiQ16850 HS

Family and domain databases

Gene3Di1.10.630.10, 1 hit
InterProiView protein in InterPro
IPR001128 Cyt_P450
IPR017972 Cyt_P450_CS
IPR002403 Cyt_P450_E_grp-IV
IPR036396 Cyt_P450_sf
PfamiView protein in Pfam
PF00067 p450, 1 hit
PRINTSiPR00465 EP450IV
PR00385 P450
SUPFAMiSSF48264 SSF48264, 1 hit
PROSITEiView protein in PROSITE
PS00086 CYTOCHROME_P450, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<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 nameiCP51A_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: Q16850
Secondary accession number(s): A4D1F8
, B2RAI4, B4DJ55, O00770, O00772, Q16784, Q8N1A8, Q99868
<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: November 1, 1997
Last sequence update: December 15, 1998
Last modified: January 16, 2019
This is version 177 of the entry and version 3 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 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  7. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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