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UniProtKB - Q15392 (DHC24_HUMAN)

Entry version 181 (18 Sep 2019)
Sequence version 2 (31 Jan 2002)
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Protein

Delta(24)-sterol reductase

Gene

DHCR24

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 reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis (PubMed:11519011, PubMed:21671375, PubMed:25637936, PubMed:22178193). In addition to its cholesterol-synthesizing activity, can protects cells from oxidative stress by reducing caspase 3 activity during apoptosis induced by oxidative stress (PubMed:11007892, PubMed:22010141). Also protects against amyloid-beta peptide-induced apoptosis (PubMed:11007892).6 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

FAD

<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: cholesterol biosynthesis

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

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi163 – 175FADSequence analysisAdd BLAST13

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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

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

Molecular functionOxidoreductase
Biological processCholesterol biosynthesis, Cholesterol metabolism, Lipid biosynthesis, Lipid metabolism, Steroid biosynthesis, Steroid metabolism, Sterol biosynthesis, Sterol metabolism
LigandFAD, Flavoprotein, NADP

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		1.3.1.72 2681

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-6807047 Cholesterol biosynthesis via desmosterol
R-HSA-6807062 Cholesterol biosynthesis via lathosterol

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q15392

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

More...UniPathwayi		UPA00063

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...SwissLipidsi		SLP:000001223

<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:
Delta(24)-sterol reductase (EC:1.3.1.722 Publications)
Alternative name(s):
24-dehydrocholesterol reductase
3-beta-hydroxysterol Delta-24-reductase
Diminuto/dwarf1 homolog
Seladin-11 Publication
<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:DHCR24
Synonyms:KIAA0018
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_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 1

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:2859 DHCR24

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		606418 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q15392

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

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 subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini23 – 31Lumenal1 Publication9
<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>Transmembranei32 – 52HelicalSequence analysisAdd BLAST21
Topological domaini53 – 516Cytoplasmic1 PublicationAdd BLAST464

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus, Membrane

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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Desmosterolosis (DESMOS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionRare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_08188994R → H in DESMOS; decreases production of cholesterol from desmosterol. 1 Publication1
Natural variantiVAR_012732191E → K in DESMOS; decreases production of cholesterol from desmosterol. 1 PublicationCorresponds to variant dbSNP:rs119475041EnsemblClinVar.1
Natural variantiVAR_012733294N → T in DESMOS; decreases production of cholesterol from desmosterol. 1 PublicationCorresponds to variant dbSNP:rs281797257EnsemblClinVar.1
Natural variantiVAR_012734306K → N in DESMOS; decreases production of cholesterol from desmosterol. 1 PublicationCorresponds to variant dbSNP:rs281797256EnsemblClinVar.1
Natural variantiVAR_012735471Y → S in DESMOS; complete loss of ability to convert desmosterol to cholesterol. 2 PublicationsCorresponds to variant dbSNP:rs28939092EnsemblClinVar.1
Natural variantiVAR_081890480E → K in DESMOS; decreases production of cholesterol from desmosterol. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		1718

MalaCards human disease database

More...MalaCardsi		DHCR24
MIMi602398 phenotype

Open Targets

More...OpenTargetsi		ENSG00000116133

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

More...Orphaneti		35107 Desmosterolosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA27320

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL2331059

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		DHCR24

Domain mapping of disease mutations (DMDM)

More...DMDMi		20141421

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 22Sequence analysisAdd BLAST22
<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_000000723023 – 516Delta(24)-sterol reductaseAdd BLAST494

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei122 – 123Cleavage; by caspaseSequence analysis2
Sitei383 – 384Cleavage; by caspaseSequence analysis2

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q15392

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q15392

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q15392

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q15392

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

More...PaxDbi		Q15392

PeptideAtlas

More...PeptideAtlasi		Q15392

PRoteomics IDEntifications database

More...PRIDEi		Q15392

ProteomicsDB human proteome resource

More...ProteomicsDBi		60562 [Q15392-1]
6916

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q15392

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

More...PhosphoSitePlusi		Q15392

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q15392

<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

Highly expressed in brain and adrenal gland with moderate expression in liver, lung, spleen, prostate and spinal cord. Low expression in heart, uterus and prostate. Undetectable in blood cells. In the brain, strongly expressed in cortical regions, substantia nigra, caudate nucleus, hippocampus, medulla oblongata and pons. In brains affected by Alzheimer disease, expression in the inferior temporal lobe is substantially lower than in the frontal cortex.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000116133 Expressed in 227 organ(s), highest expression level in adrenal gland

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q15392 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q15392 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB037247
HPA017981
HPA063005

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

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

Interacts with DHCR7; this interaction regulates DHCR7 activity.

1 Publication

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		108064, 34 interactors

Protein interaction database and analysis system

More...IntActi		Q15392, 34 interactors

Molecular INTeraction database

More...MINTi		Q15392

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000360316

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini58 – 234FAD-binding PCMH-typePROSITE-ProRule annotationAdd BLAST177

<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 FAD-binding oxidoreductase/transferase type 4 family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1262 Eukaryota
COG0277 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000008338

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000243421

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q15392

KEGG Orthology (KO)

More...KOi		K09828

Identification of Orthologs from Complete Genome Data

More...OMAi		CPLRLRE

Database of Orthologous Groups

More...OrthoDBi		733611at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q15392

TreeFam database of animal gene trees

More...TreeFami		TF313170

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.30.465.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR040165 Diminuto-like
IPR016166 FAD-bd_PCMH
IPR036318 FAD-bd_PCMH-like_sf
IPR016169 FAD-bd_PCMH_sub2
IPR006094 Oxid_FAD_bind_N

The PANTHER Classification System

More...PANTHERi		PTHR10801 PTHR10801, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01565 FAD_binding_4, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF56176 SSF56176, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51387 FAD_PCMH, 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>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>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.

<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 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 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q15392-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MEPAVSLAVC ALLFLLWVRL KGLEFVLIHQ RWVFVCLFLL PLSLIFDIYY 
        60         70         80         90        100
YVRAWVVFKL SSAPRLHEQR VRDIQKQVRE WKEQGSKTFM CTGRPGWLTV 
       110        120        130        140        150
SLRVGKYKKT HKNIMINLMD ILEVDTKKQI VRVEPLVTMG QVTALLTSIG 
       160        170        180        190        200
WTLPVLPELD DLTVGGLIMG TGIESSSHKY GLFQHICTAY ELVLADGSFV 
       210        220        230        240        250
RCTPSENSDL FYAVPWSCGT LGFLVAAEIR IIPAKKYVKL RFEPVRGLEA 
       260        270        280        290        300
ICAKFTHESQ RQENHFVEGL LYSLDEAVIM TGVMTDEAEP SKLNSIGNYY 
       310        320        330        340        350
KPWFFKHVEN YLKTNREGLE YIPLRHYYHR HTRSIFWELQ DIIPFGNNPI 
       360        370        380        390        400
FRYLFGWMVP PKISLLKLTQ GETLRKLYEQ HHVVQDMLVP MKCLQQALHT 
       410        420        430        440        450
FQNDIHVYPI WLCPFILPSQ PGLVHPKGNE AELYIDIGAY GEPRVKHFEA 
       460        470        480        490        500
RSCMRQLEKF VRSVHGFQML YADCYMNREE FWEMFDGSLY HKLREKLGCQ 
       510 
DAFPEVYDKI CKAARH
Length:516
Mass (Da):60,101
Last modified:January 31, 2002 - v2
<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:iF9A769446FE19E59
GO
Isoform 2 (identifier: Q15392-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-76: MEPAVSLAVC...HEQRVRDIQK → MGAGEQNRQSAHCVQGICGYLEGDEEGEEGEVRST

Note: No experimental confirmation available.
Show »
Length:475
Mass (Da):54,750
Checksum:iC163378CA1E91FC8
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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MTI1A0A0A0MTI1_HUMAN
Delta(24)-sterol reductase
DHCR24
528Annotation 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>
A0A3B3ISR5A0A3B3ISR5_HUMAN
Delta(24)-sterol reductase
DHCR24
153Annotation 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>
A0A3B3IRV7A0A3B3IRV7_HUMAN
Delta(24)-sterol reductase
DHCR24
133Annotation 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>
A0A3B3IT58A0A3B3IT58_HUMAN
Delta(24)-sterol reductase
DHCR24
122Annotation 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>
A0A3B3ITT9A0A3B3ITT9_HUMAN
Delta(24)-sterol reductase
DHCR24
167Annotation 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>
H7C4B7H7C4B7_HUMAN
Delta(24)-sterol reductase
DHCR24
154Annotation 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 BAA02806 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08188994R → H in DESMOS; decreases production of cholesterol from desmosterol. 1 Publication1
Natural variantiVAR_012732191E → K in DESMOS; decreases production of cholesterol from desmosterol. 1 PublicationCorresponds to variant dbSNP:rs119475041EnsemblClinVar.1
Natural variantiVAR_012733294N → T in DESMOS; decreases production of cholesterol from desmosterol. 1 PublicationCorresponds to variant dbSNP:rs281797257EnsemblClinVar.1
Natural variantiVAR_012734306K → N in DESMOS; decreases production of cholesterol from desmosterol. 1 PublicationCorresponds to variant dbSNP:rs281797256EnsemblClinVar.1
Natural variantiVAR_012735471Y → S in DESMOS; complete loss of ability to convert desmosterol to cholesterol. 2 PublicationsCorresponds to variant dbSNP:rs28939092EnsemblClinVar.1
Natural variantiVAR_081890480E → K in DESMOS; decreases production of cholesterol from desmosterol. 1 Publication1

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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0564791 – 76MEPAV…RDIQK → MGAGEQNRQSAHCVQGICGY LEGDEEGEEGEVRST in isoform 2. 1 PublicationAdd BLAST76

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
AF261758 mRNA Translation: AAG17288.1
AF398342
, AF398336, AF398337, AF398338, AF398339, AF398340, AF398341 Genomic DNA Translation: AAL15644.1
D13643 mRNA Translation: BAA02806.3 Different initiation.
AK302774 mRNA Translation: BAH13803.1
AC096536 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX06663.1
CH471059 Genomic DNA Translation: EAX06664.1
BC004375 mRNA Translation: AAH04375.1
BC011669 mRNA Translation: AAH11669.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS600.1 [Q15392-1]

NCBI Reference Sequences

More...RefSeqi		NP_055577.1, NM_014762.3 [Q15392-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000371269; ENSP00000360316; ENSG00000116133 [Q15392-1]
ENST00000436604; ENSP00000416585; ENSG00000116133 [Q15392-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1718

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1718

UCSC genome browser

More...UCSCi		uc001cyc.2 human [Q15392-1]

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
AF261758 mRNA Translation: AAG17288.1
AF398342
, AF398336, AF398337, AF398338, AF398339, AF398340, AF398341 Genomic DNA Translation: AAL15644.1
D13643 mRNA Translation: BAA02806.3 Different initiation.
AK302774 mRNA Translation: BAH13803.1
AC096536 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX06663.1
CH471059 Genomic DNA Translation: EAX06664.1
BC004375 mRNA Translation: AAH04375.1
BC011669 mRNA Translation: AAH11669.1
CCDSiCCDS600.1 [Q15392-1]
RefSeqiNP_055577.1, NM_014762.3 [Q15392-1]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGridi108064, 34 interactors
IntActiQ15392, 34 interactors
MINTiQ15392
STRINGi9606.ENSP00000360316

Chemistry databases

ChEMBLiCHEMBL2331059
SwissLipidsiSLP:000001223

PTM databases

iPTMnetiQ15392
PhosphoSitePlusiQ15392
SwissPalmiQ15392

Polymorphism and mutation databases

BioMutaiDHCR24
DMDMi20141421

Proteomic databases

EPDiQ15392
jPOSTiQ15392
MassIVEiQ15392
MaxQBiQ15392
PaxDbiQ15392
PeptideAtlasiQ15392
PRIDEiQ15392
ProteomicsDBi60562 [Q15392-1]
6916

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		1718
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000371269; ENSP00000360316; ENSG00000116133 [Q15392-1]
ENST00000436604; ENSP00000416585; ENSG00000116133 [Q15392-1]
GeneIDi1718
KEGGihsa:1718
UCSCiuc001cyc.2 human [Q15392-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		1718
DisGeNETi1718

GeneCards: human genes, protein and diseases

More...GeneCardsi		DHCR24
HGNCiHGNC:2859 DHCR24
HPAiCAB037247
HPA017981
HPA063005
MalaCardsiDHCR24
MIMi602398 phenotype
606418 gene
neXtProtiNX_Q15392
OpenTargetsiENSG00000116133
Orphaneti35107 Desmosterolosis
PharmGKBiPA27320

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1262 Eukaryota
COG0277 LUCA
GeneTreeiENSGT00390000008338
HOGENOMiHOG000243421
InParanoidiQ15392
KOiK09828
OMAiCPLRLRE
OrthoDBi733611at2759
PhylomeDBiQ15392
TreeFamiTF313170

Enzyme and pathway databases

UniPathwayiUPA00063
BRENDAi1.3.1.72 2681
ReactomeiR-HSA-6807047 Cholesterol biosynthesis via desmosterol
R-HSA-6807062 Cholesterol biosynthesis via lathosterol
SIGNORiQ15392

Miscellaneous databases

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

More...ChiTaRSi		DHCR24 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		24-dehydrocholesterol_reductase

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

More...GenomeRNAii		1718

Pharos

More...Pharosi		Q15392

Protein Ontology

More...PROi		PR:Q15392

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000116133 Expressed in 227 organ(s), highest expression level in adrenal gland
ExpressionAtlasiQ15392 baseline and differential
GenevisibleiQ15392 HS

Family and domain databases

Gene3Di3.30.465.10, 1 hit
InterProiView protein in InterPro
IPR040165 Diminuto-like
IPR016166 FAD-bd_PCMH
IPR036318 FAD-bd_PCMH-like_sf
IPR016169 FAD-bd_PCMH_sub2
IPR006094 Oxid_FAD_bind_N
PANTHERiPTHR10801 PTHR10801, 1 hit
PfamiView protein in Pfam
PF01565 FAD_binding_4, 1 hit
SUPFAMiSSF56176 SSF56176, 1 hit
PROSITEiView protein in PROSITE
PS51387 FAD_PCMH, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

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

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDHC24_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: Q15392
Secondary accession number(s): B7Z817, D3DQ51, Q9HBA8
<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 15, 1998
Last sequence update: January 31, 2002
Last modified: September 18, 2019
This is version 181 of the entry and version 2 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

Complete proteome, Reference proteome

Documents

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