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Protein

Delta(24)-sterol reductase

Gene

DHCR24

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalyzes the reduction of the Delta-24 double bond of sterol intermediates. Protects cells from oxidative stress by reducing caspase 3 activity during apoptosis induced by oxidative stress. Also protects against amyloid-beta peptide-induced apoptosis.3 Publications

Catalytic activityi

5-alpha-cholest-7-en-3-beta-ol + NADP+ = 5-alpha-cholesta-7,24-dien-3-beta-ol + NADPH.

Cofactori

Pathwayi: cholesterol biosynthesis

This protein is involved in the pathway cholesterol biosynthesis, which is part of Steroid biosynthesis.
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
Nucleotide bindingi163 – 175FADSequence analysisAdd BLAST13

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

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

BRENDAi1.3.1.72 2681
ReactomeiR-HSA-6807047 Cholesterol biosynthesis via desmosterol
R-HSA-6807062 Cholesterol biosynthesis via lathosterol
SIGNORiQ15392
UniPathwayi
UPA00063

Chemistry databases

SwissLipidsiSLP:000001223

Names & Taxonomyi

Protein namesi
Recommended name:
Delta(24)-sterol reductase (EC:1.3.1.72)
Alternative name(s):
24-dehydrocholesterol reductase
3-beta-hydroxysterol Delta-24-reductase
Diminuto/dwarf1 homolog
Seladin-1
Gene namesi
Name:DHCR24
Synonyms:KIAA0018
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000116133.11
HGNCiHGNC:2859 DHCR24
MIMi606418 gene
neXtProtiNX_Q15392

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
Topological domaini23 – 31LumenalSequence analysis9
Transmembranei32 – 52HelicalSequence analysisAdd BLAST21
Topological domaini53 – 516CytoplasmicSequence analysisAdd BLAST464

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Desmosterolosis (DESMOS)1 Publication
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.
See also OMIM:602398
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_012732191E → K in DESMOS. 1 PublicationCorresponds to variant dbSNP:rs119475041EnsemblClinVar.1
Natural variantiVAR_012733294N → T in DESMOS. 1 PublicationCorresponds to variant dbSNP:rs281797257EnsemblClinVar.1
Natural variantiVAR_012734306K → N in DESMOS. 1 PublicationCorresponds to variant dbSNP:rs281797256EnsemblClinVar.1
Natural variantiVAR_012735471Y → S in DESMOS. 1 PublicationCorresponds to variant dbSNP:rs28939092EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi1718
MalaCardsiDHCR24
MIMi602398 phenotype
OpenTargetsiENSG00000116133
Orphaneti35107 Desmosterolosis
PharmGKBiPA27320

Chemistry databases

ChEMBLiCHEMBL2331059

Polymorphism and mutation databases

BioMutaiDHCR24
DMDMi20141421

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 22Sequence analysisAdd BLAST22
ChainiPRO_000000723023 – 516Delta(24)-sterol reductaseAdd BLAST494

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei122 – 123Cleavage; by caspaseSequence analysis2
Sitei383 – 384Cleavage; by caspaseSequence analysis2

Proteomic databases

EPDiQ15392
MaxQBiQ15392
PaxDbiQ15392
PeptideAtlasiQ15392
PRIDEiQ15392
ProteomicsDBi60562

PTM databases

iPTMnetiQ15392
PhosphoSitePlusiQ15392
SwissPalmiQ15392

Expressioni

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

BgeeiENSG00000116133 Expressed in 227 organ(s), highest expression level in adrenal gland
CleanExiHS_DHCR24
ExpressionAtlasiQ15392 baseline and differential
GenevisibleiQ15392 HS

Organism-specific databases

HPAiCAB037247
HPA017981
HPA063005

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi108064, 28 interactors
IntActiQ15392, 21 interactors
MINTiQ15392
STRINGi9606.ENSP00000360316

Structurei

3D structure databases

ProteinModelPortaliQ15392
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini58 – 234FAD-binding PCMH-typePROSITE-ProRule annotationAdd BLAST177

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1262 Eukaryota
COG0277 LUCA
GeneTreeiENSGT00390000008338
HOGENOMiHOG000243421
HOVERGENiHBG051349
InParanoidiQ15392
KOiK09828
OMAiCPLRLRE
OrthoDBiEOG091G044Z
PhylomeDBiQ15392
TreeFamiTF313170

Family and domain databases

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

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 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: Q15392-1) [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
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
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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q3LIE7Q3LIE7_HUMAN
Delta(24)-sterol reductase
DHCR24 Nbla03646
427Annotation score:
H7C4B7H7C4B7_HUMAN
Delta(24)-sterol reductase
DHCR24
154Annotation score:

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_012732191E → K in DESMOS. 1 PublicationCorresponds to variant dbSNP:rs119475041EnsemblClinVar.1
Natural variantiVAR_012733294N → T in DESMOS. 1 PublicationCorresponds to variant dbSNP:rs281797257EnsemblClinVar.1
Natural variantiVAR_012734306K → N in DESMOS. 1 PublicationCorresponds to variant dbSNP:rs281797256EnsemblClinVar.1
Natural variantiVAR_012735471Y → S in DESMOS. 1 PublicationCorresponds to variant dbSNP:rs28939092EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0564791 – 76MEPAV…RDIQK → MGAGEQNRQSAHCVQGICGY LEGDEEGEEGEVRST in isoform 2. 1 PublicationAdd BLAST76

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]
UniGeneiHs.498727

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing

Similar 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
CCDSiCCDS600.1 [Q15392-1]
RefSeqiNP_055577.1, NM_014762.3 [Q15392-1]
UniGeneiHs.498727

3D structure databases

ProteinModelPortaliQ15392
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108064, 28 interactors
IntActiQ15392, 21 interactors
MINTiQ15392
STRINGi9606.ENSP00000360316

Chemistry databases

ChEMBLiCHEMBL2331059
SwissLipidsiSLP:000001223

PTM databases

iPTMnetiQ15392
PhosphoSitePlusiQ15392
SwissPalmiQ15392

Polymorphism and mutation databases

BioMutaiDHCR24
DMDMi20141421

Proteomic databases

EPDiQ15392
MaxQBiQ15392
PaxDbiQ15392
PeptideAtlasiQ15392
PRIDEiQ15392
ProteomicsDBi60562

Protocols and materials databases

DNASUi1718
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi1718
DisGeNETi1718
EuPathDBiHostDB:ENSG00000116133.11
GeneCardsiDHCR24
HGNCiHGNC:2859 DHCR24
HPAiCAB037247
HPA017981
HPA063005
MalaCardsiDHCR24
MIMi602398 phenotype
606418 gene
neXtProtiNX_Q15392
OpenTargetsiENSG00000116133
Orphaneti35107 Desmosterolosis
PharmGKBiPA27320
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1262 Eukaryota
COG0277 LUCA
GeneTreeiENSGT00390000008338
HOGENOMiHOG000243421
HOVERGENiHBG051349
InParanoidiQ15392
KOiK09828
OMAiCPLRLRE
OrthoDBiEOG091G044Z
PhylomeDBiQ15392
TreeFamiTF313170

Enzyme and pathway databases

UniPathwayi
UPA00063

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

Miscellaneous databases

ChiTaRSiDHCR24 human
GeneWikii24-dehydrocholesterol_reductase
GenomeRNAii1718
PROiPR:Q15392
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000116133 Expressed in 227 organ(s), highest expression level in adrenal gland
CleanExiHS_DHCR24
ExpressionAtlasiQ15392 baseline and differential
GenevisibleiQ15392 HS

Family and domain databases

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

Entry informationi

Entry nameiDHC24_HUMAN
AccessioniPrimary (citable) accession number: Q15392
Secondary accession number(s): B7Z817, D3DQ51, Q9HBA8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: January 31, 2002
Last modified: November 7, 2018
This is version 173 of the entry and version 2 of the sequence. See complete history.
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.

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 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
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Main funding by: National Institutes of Health

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