UniProtKB - Q15392 (DHC24_HUMAN)
Delta(24)-sterol reductase
DHCR24
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 protect 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 PublicationsCatalytic activityi
- EC:1.3.1.723 PublicationsThis reaction proceeds in the backward2 Publications direction.
- This reaction proceeds in the forward1 Publication direction.
- EC:1.3.1.72By similarityThis reaction proceeds in the backwardBy similarity direction.
Cofactori
: cholesterol biosynthesis Pathwayi
This protein is involved in the pathway cholesterol biosynthesis, which is part of Steroid biosynthesis.2 PublicationsView all proteins of this organism that are known to be involved in the pathway cholesterol biosynthesis and in Steroid biosynthesis.
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 163 – 175 | FADSequence analysisAdd BLAST | 13 |
GO - Molecular functioni
- delta24(24-1) sterol reductase activity Source: UniProtKB
- delta24-sterol reductase activity Source: Reactome
- enzyme binding Source: UniProtKB
- FAD binding Source: InterPro
- oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor Source: MGI
- peptide antigen binding Source: UniProtKB
GO - Biological processi
- amyloid precursor protein catabolic process Source: Ensembl
- apoptotic process Source: UniProtKB
- cholesterol biosynthetic process Source: MGI
- cholesterol biosynthetic process via desmosterol Source: UniProtKB
- cholesterol biosynthetic process via lathosterol Source: Reactome
- male genitalia development Source: Ensembl
- membrane organization Source: Ensembl
- negative regulation of apoptotic process Source: UniProtKB
- negative regulation of cell population proliferation Source: Ensembl
- negative regulation of cysteine-type endopeptidase activity involved in apoptotic process Source: UniProtKB
- plasminogen activation Source: Ensembl
- protein localization Source: Ensembl
- Ras protein signal transduction Source: Ensembl
- regulation of cell cycle Source: UniProtKB
- regulation of neuron death Source: UniProtKB
- response to hormone Source: Ensembl
- response to oxidative stress Source: UniProtKB
- skin development Source: UniProtKB
- steroid metabolic process Source: GO_Central
- tissue development Source: UniProtKB
Keywordsi
Molecular function | Oxidoreductase |
Biological process | Cholesterol biosynthesis, Cholesterol metabolism, Lipid biosynthesis, Lipid metabolism, Steroid biosynthesis, Steroid metabolism, Sterol biosynthesis, Sterol metabolism |
Ligand | FAD, Flavoprotein, NADP |
Enzyme and pathway databases
BRENDAi | 1.3.1.72, 2681 |
PathwayCommonsi | Q15392 |
Reactomei | R-HSA-6807047, Cholesterol biosynthesis via desmosterol R-HSA-6807062, Cholesterol biosynthesis via lathosterol |
SignaLinki | Q15392 |
SIGNORi | Q15392 |
UniPathwayi | UPA00063 |
Chemistry databases
SwissLipidsi | SLP:000001223 |
Names & Taxonomyi
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 |
Gene namesi | Name:DHCR24 Synonyms:KIAA0018 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:2859, DHCR24 |
MIMi | 606418, gene |
neXtProti | NX_Q15392 |
VEuPathDBi | HostDB:ENSG00000116133 |
Subcellular locationi
Golgi apparatus
- Golgi apparatus membrane 1 Publication; Single-pass membrane protein Sequence analysis
Endoplasmic reticulum
- Endoplasmic reticulum membrane 2 Publications; Single-pass membrane protein Sequence analysis
Cytoskeleton
- cytoskeleton Source: Ensembl
Cytosol
- cytosol Source: Ensembl
Endoplasmic reticulum
- endoplasmic reticulum Source: UniProtKB
- endoplasmic reticulum membrane Source: Reactome
Golgi apparatus
- Golgi membrane Source: UniProtKB-SubCell
Nucleus
- nucleus Source: UniProtKB
Other locations
- cytoplasm Source: GO_Central
- integral component of membrane Source: UniProtKB-KW
- membrane Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 23 – 31 | Lumenal1 Publication | 9 | |
Transmembranei | 32 – 52 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 53 – 516 | Cytoplasmic1 PublicationAdd BLAST | 464 |
Keywords - Cellular componenti
Endoplasmic reticulum, Golgi apparatus, MembranePathology & Biotechi
Involvement in diseasei
Desmosterolosis (DESMOS)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081889 | 94 | R → H in DESMOS; decreases production of cholesterol from desmosterol. 1 PublicationCorresponds to variant dbSNP:rs387906939EnsemblClinVar. | 1 | |
Natural variantiVAR_012732 | 191 | E → K in DESMOS; decreases production of cholesterol from desmosterol. 1 PublicationCorresponds to variant dbSNP:rs119475041EnsemblClinVar. | 1 | |
Natural variantiVAR_012733 | 294 | N → T in DESMOS; decreases production of cholesterol from desmosterol. 1 PublicationCorresponds to variant dbSNP:rs281797257EnsemblClinVar. | 1 | |
Natural variantiVAR_012734 | 306 | K → N in DESMOS; decreases production of cholesterol from desmosterol. 1 PublicationCorresponds to variant dbSNP:rs281797256EnsemblClinVar. | 1 | |
Natural variantiVAR_012735 | 471 | Y → S in DESMOS; complete loss of ability to convert desmosterol to cholesterol. 2 PublicationsCorresponds to variant dbSNP:rs28939092EnsemblClinVar. | 1 | |
Natural variantiVAR_081890 | 480 | E → K in DESMOS; decreases production of cholesterol from desmosterol. 1 PublicationCorresponds to variant dbSNP:rs387906940EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 1718 |
MalaCardsi | DHCR24 |
MIMi | 602398, phenotype |
OpenTargetsi | ENSG00000116133 |
Orphaneti | 35107, Desmosterolosis |
PharmGKBi | PA27320 |
Miscellaneous databases
Pharosi | Q15392, Tbio |
Chemistry databases
ChEMBLi | CHEMBL2331059 |
Genetic variation databases
BioMutai | DHCR24 |
DMDMi | 20141421 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 22 | Sequence analysisAdd BLAST | 22 | |
ChainiPRO_0000007230 | 23 – 516 | Delta(24)-sterol reductaseAdd BLAST | 494 |
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 122 – 123 | Cleavage; by caspaseSequence analysis | 2 | |
Sitei | 383 – 384 | Cleavage; by caspaseSequence analysis | 2 |
Proteomic databases
EPDi | Q15392 |
jPOSTi | Q15392 |
MassIVEi | Q15392 |
MaxQBi | Q15392 |
PaxDbi | Q15392 |
PeptideAtlasi | Q15392 |
PRIDEi | Q15392 |
ProteomicsDBi | 60562 [Q15392-1] 6916 |
PTM databases
GlyGeni | Q15392, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q15392 |
MetOSitei | Q15392 |
PhosphoSitePlusi | Q15392 |
SwissPalmi | Q15392 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000116133, Expressed in adrenal tissue and 240 other tissues |
ExpressionAtlasi | Q15392, baseline and differential |
Genevisiblei | Q15392, HS |
Organism-specific databases
HPAi | ENSG00000116133, Tissue enhanced (adrenal gland, liver) |
Interactioni
Subunit structurei
Interacts with DHCR7; this interaction regulates DHCR7 activity.
1 PublicationGO - Molecular functioni
- enzyme binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 108064, 127 interactors |
IntActi | Q15392, 55 interactors |
MINTi | Q15392 |
STRINGi | 9606.ENSP00000360316 |
Chemistry databases
BindingDBi | Q15392 |
Miscellaneous databases
RNActi | Q15392, protein |
Structurei
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 58 – 234 | FAD-binding PCMH-typePROSITE-ProRule annotationAdd BLAST | 177 |
Sequence similaritiesi
Keywords - Domaini
Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG1262, Eukaryota |
GeneTreei | ENSGT00390000008338 |
InParanoidi | Q15392 |
OrthoDBi | 733611at2759 |
PhylomeDBi | Q15392 |
TreeFami | TF313170 |
Family and domain databases
Gene3Di | 3.30.465.10, 1 hit |
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 |
PANTHERi | PTHR10801, PTHR10801, 1 hit |
Pfami | View protein in Pfam PF01565, FAD_binding_4, 1 hit |
SUPFAMi | SSF56176, SSF56176, 1 hit |
PROSITEi | View protein in PROSITE PS51387, FAD_PCMH, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A0A0MTI1 | A0A0A0MTI1_HUMAN | Delta(24)-sterol reductase | DHCR24 | 528 | Annotation score: | ||
A0A3B3IT58 | A0A3B3IT58_HUMAN | Delta(24)-sterol reductase | DHCR24 | 122 | Annotation score: | ||
A0A3B3ITT9 | A0A3B3ITT9_HUMAN | Delta(24)-sterol reductase | DHCR24 | 167 | Annotation score: | ||
A0A3B3ISR5 | A0A3B3ISR5_HUMAN | Delta(24)-sterol reductase | DHCR24 | 153 | Annotation score: | ||
A0A3B3IRV7 | A0A3B3IRV7_HUMAN | Delta(24)-sterol reductase | DHCR24 | 133 | Annotation score: |
Sequence cautioni
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081889 | 94 | R → H in DESMOS; decreases production of cholesterol from desmosterol. 1 PublicationCorresponds to variant dbSNP:rs387906939EnsemblClinVar. | 1 | |
Natural variantiVAR_012732 | 191 | E → K in DESMOS; decreases production of cholesterol from desmosterol. 1 PublicationCorresponds to variant dbSNP:rs119475041EnsemblClinVar. | 1 | |
Natural variantiVAR_012733 | 294 | N → T in DESMOS; decreases production of cholesterol from desmosterol. 1 PublicationCorresponds to variant dbSNP:rs281797257EnsemblClinVar. | 1 | |
Natural variantiVAR_012734 | 306 | K → N in DESMOS; decreases production of cholesterol from desmosterol. 1 PublicationCorresponds to variant dbSNP:rs281797256EnsemblClinVar. | 1 | |
Natural variantiVAR_012735 | 471 | Y → S in DESMOS; complete loss of ability to convert desmosterol to cholesterol. 2 PublicationsCorresponds to variant dbSNP:rs28939092EnsemblClinVar. | 1 | |
Natural variantiVAR_081890 | 480 | E → K in DESMOS; decreases production of cholesterol from desmosterol. 1 PublicationCorresponds to variant dbSNP:rs387906940EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_056479 | 1 – 76 | MEPAV…RDIQK → MGAGEQNRQSAHCVQGICGY LEGDEEGEEGEVRST in isoform 2. 1 PublicationAdd BLAST | 76 |
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 |
CCDSi | CCDS600.1 [Q15392-1] |
RefSeqi | NP_055577.1, NM_014762.3 [Q15392-1] |
Genome annotation databases
Ensembli | ENST00000371269; ENSP00000360316; ENSG00000116133 ENST00000436604; ENSP00000416585; ENSG00000116133 |
GeneIDi | 1718 |
KEGGi | hsa:1718 |
MANE-Selecti | ENST00000371269.9; ENSP00000360316.3; NM_014762.4; NP_055577.1 |
UCSCi | uc001cyc.2, human [Q15392-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 |
CCDSi | CCDS600.1 [Q15392-1] |
RefSeqi | NP_055577.1, NM_014762.3 [Q15392-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 108064, 127 interactors |
IntActi | Q15392, 55 interactors |
MINTi | Q15392 |
STRINGi | 9606.ENSP00000360316 |
Chemistry databases
BindingDBi | Q15392 |
ChEMBLi | CHEMBL2331059 |
SwissLipidsi | SLP:000001223 |
PTM databases
GlyGeni | Q15392, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q15392 |
MetOSitei | Q15392 |
PhosphoSitePlusi | Q15392 |
SwissPalmi | Q15392 |
Genetic variation databases
BioMutai | DHCR24 |
DMDMi | 20141421 |
Proteomic databases
EPDi | Q15392 |
jPOSTi | Q15392 |
MassIVEi | Q15392 |
MaxQBi | Q15392 |
PaxDbi | Q15392 |
PeptideAtlasi | Q15392 |
PRIDEi | Q15392 |
ProteomicsDBi | 60562 [Q15392-1] 6916 |
Protocols and materials databases
Antibodypediai | 33226, 253 antibodies from 30 providers |
DNASUi | 1718 |
Genome annotation databases
Ensembli | ENST00000371269; ENSP00000360316; ENSG00000116133 ENST00000436604; ENSP00000416585; ENSG00000116133 |
GeneIDi | 1718 |
KEGGi | hsa:1718 |
MANE-Selecti | ENST00000371269.9; ENSP00000360316.3; NM_014762.4; NP_055577.1 |
UCSCi | uc001cyc.2, human [Q15392-1] |
Organism-specific databases
CTDi | 1718 |
DisGeNETi | 1718 |
GeneCardsi | DHCR24 |
HGNCi | HGNC:2859, DHCR24 |
HPAi | ENSG00000116133, Tissue enhanced (adrenal gland, liver) |
MalaCardsi | DHCR24 |
MIMi | 602398, phenotype 606418, gene |
neXtProti | NX_Q15392 |
OpenTargetsi | ENSG00000116133 |
Orphaneti | 35107, Desmosterolosis |
PharmGKBi | PA27320 |
VEuPathDBi | HostDB:ENSG00000116133 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1262, Eukaryota |
GeneTreei | ENSGT00390000008338 |
InParanoidi | Q15392 |
OrthoDBi | 733611at2759 |
PhylomeDBi | Q15392 |
TreeFami | TF313170 |
Enzyme and pathway databases
UniPathwayi | UPA00063 |
BRENDAi | 1.3.1.72, 2681 |
PathwayCommonsi | Q15392 |
Reactomei | R-HSA-6807047, Cholesterol biosynthesis via desmosterol R-HSA-6807062, Cholesterol biosynthesis via lathosterol |
SignaLinki | Q15392 |
SIGNORi | Q15392 |
Miscellaneous databases
BioGRID-ORCSi | 1718, 15 hits in 1053 CRISPR screens |
ChiTaRSi | DHCR24, human |
GeneWikii | 24-dehydrocholesterol_reductase |
GenomeRNAii | 1718 |
Pharosi | Q15392, Tbio |
PROi | PR:Q15392 |
RNActi | Q15392, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000116133, Expressed in adrenal tissue and 240 other tissues |
ExpressionAtlasi | Q15392, baseline and differential |
Genevisiblei | Q15392, HS |
Family and domain databases
Gene3Di | 3.30.465.10, 1 hit |
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 |
PANTHERi | PTHR10801, PTHR10801, 1 hit |
Pfami | View protein in Pfam PF01565, FAD_binding_4, 1 hit |
SUPFAMi | SSF56176, SSF56176, 1 hit |
PROSITEi | View protein in PROSITE PS51387, FAD_PCMH, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | DHC24_HUMAN | |
Accessioni | Q15392Primary (citable) accession number: Q15392 Secondary accession number(s): B7Z817, D3DQ51, Q9HBA8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 15, 1998 |
Last sequence update: | January 31, 2002 | |
Last modified: | February 23, 2022 | |
This is version 195 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - SIMILARITY comments
Index of protein domains and families