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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-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
  • flavin adenine dinucleotide binding Source: InterPro
  • oxidoreductase activity, acting on CH-OH group of donors 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
  • cell cycle arrest Source: UniProtKB
  • cholesterol biosynthetic process Source: UniProtKB
  • cholesterol biosynthetic process via desmosterol Source: Reactome
  • 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 proliferation Source: Ensembl
  • negative regulation of cysteine-type endopeptidase activity involved in apoptotic process Source: UniProtKB
  • oxidation-reduction process Source: UniProtKB
  • plasminogen activation Source: Ensembl
  • protein localization Source: Ensembl
  • Ras protein signal transduction Source: Ensembl
  • regulation of neuron death Source: UniProtKB
  • response to hormone Source: Ensembl
  • response to oxidative stress Source: UniProtKB
  • skin development Source: UniProtKB
  • tissue development Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Cholesterol biosynthesis, Cholesterol metabolism, Lipid biosynthesis, Lipid metabolism, Steroid biosynthesis, Steroid metabolism, Sterol biosynthesis, Sterol metabolism

Keywords - Ligandi

FAD, Flavoprotein, NADP

Enzyme and pathway databases

BioCyciZFISH:HS03985-MONOMER.
BRENDAi1.3.1.72. 2681.
ReactomeiR-HSA-6807047. Cholesterol biosynthesis via desmosterol.
R-HSA-6807062. Cholesterol biosynthesis via lathosterol.
UniPathwayiUPA00063.

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

HGNCiHGNC:2859. DHCR24.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini23 – 31LumenalSequence analysis9
Transmembranei32 – 52HelicalSequence analysisAdd BLAST21
Topological domaini53 – 516CytoplasmicSequence analysisAdd BLAST464

GO - Cellular componenti

  • cytoskeleton Source: Ensembl
  • cytosol Source: Ensembl
  • endoplasmic reticulum Source: UniProtKB
  • endoplasmic reticulum membrane Source: UniProtKB
  • Golgi membrane Source: UniProtKB-SubCell
  • integral component of membrane Source: UniProtKB-KW
  • membrane Source: UniProtKB
  • nucleus Source: UniProtKB
Complete GO annotation...

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 rs28939093dbSNPEnsembl.1
Natural variantiVAR_012733294N → T in DESMOS. 1 PublicationCorresponds to variant rs281797257dbSNPEnsembl.1
Natural variantiVAR_012734306K → N in DESMOS. 1 PublicationCorresponds to variant rs281797256dbSNPEnsembl.1
Natural variantiVAR_012735471Y → S in DESMOS. 1 PublicationCorresponds to variant rs28939092dbSNPEnsembl.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.

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.
CleanExiHS_DHCR24.
ExpressionAtlasiQ15392. baseline and differential.
GenevisibleiQ15392. HS.

Organism-specific databases

HPAiCAB037247.
HPA063005.

Interactioni

GO - Molecular functioni

  • enzyme binding Source: UniProtKB

Protein-protein interaction databases

BioGridi108064. 26 interactors.
IntActiQ15392. 16 interactors.
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

Contains 1 FAD-binding PCMH-type domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

Gene3Di3.30.465.10. 1 hit.
InterProiIPR016169. CO_DH_flavot_FAD-bd_sub2.
IPR016166. FAD-bd_2.
IPR006094. Oxid_FAD_bind_N.
[Graphical view]
PfamiPF01565. FAD_binding_4. 1 hit.
[Graphical view]
SUPFAMiSSF56176. SSF56176. 1 hit.
PROSITEiPS51387. FAD_PCMH. 1 hit.
[Graphical view]

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

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

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 rs28939093dbSNPEnsembl.1
Natural variantiVAR_012733294N → T in DESMOS. 1 PublicationCorresponds to variant rs281797257dbSNPEnsembl.1
Natural variantiVAR_012734306K → N in DESMOS. 1 PublicationCorresponds to variant rs281797256dbSNPEnsembl.1
Natural variantiVAR_012735471Y → S in DESMOS. 1 PublicationCorresponds to variant rs28939092dbSNPEnsembl.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

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. 26 interactors.
IntActiQ15392. 16 interactors.
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.

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.
GeneCardsiDHCR24.
HGNCiHGNC:2859. DHCR24.
HPAiCAB037247.
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.
OMAiVKKTYDP.
OrthoDBiEOG091G044Z.
PhylomeDBiQ15392.
TreeFamiTF313170.

Enzyme and pathway databases

UniPathwayiUPA00063.
BioCyciZFISH:HS03985-MONOMER.
BRENDAi1.3.1.72. 2681.
ReactomeiR-HSA-6807047. Cholesterol biosynthesis via desmosterol.
R-HSA-6807062. Cholesterol biosynthesis via lathosterol.

Miscellaneous databases

ChiTaRSiDHCR24. human.
GeneWikii24-dehydrocholesterol_reductase.
GenomeRNAii1718.
PROiQ15392.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000116133.
CleanExiHS_DHCR24.
ExpressionAtlasiQ15392. baseline and differential.
GenevisibleiQ15392. HS.

Family and domain databases

Gene3Di3.30.465.10. 1 hit.
InterProiIPR016169. CO_DH_flavot_FAD-bd_sub2.
IPR016166. FAD-bd_2.
IPR006094. Oxid_FAD_bind_N.
[Graphical view]
PfamiPF01565. FAD_binding_4. 1 hit.
[Graphical view]
SUPFAMiSSF56176. SSF56176. 1 hit.
PROSITEiPS51387. FAD_PCMH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDHC24_HUMAN
AccessioniPrimary (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: November 2, 2016
This is version 158 of the entry and version 2 of the sequence. [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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.