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Q15392

- DHC24_HUMAN

UniProt

Q15392 - DHC24_HUMAN

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Protein
Delta(24)-sterol reductase
Gene
DHCR24, KIAA0018
Organism
Homo sapiens (Human)
Status
Reviewed - 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

FAD.

Pathwayi

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei122 – 1232Cleavage; by caspase Reviewed prediction
Sitei383 – 3842Cleavage; by caspase Reviewed prediction

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi163 – 17513FAD Reviewed prediction
Add
BLAST

GO - Molecular functioni

  1. UDP-N-acetylmuramate dehydrogenase activity Source: InterPro
  2. delta24-sterol reductase activity Source: UniProtKB-EC
  3. enzyme binding Source: UniProtKB
  4. flavin adenine dinucleotide binding Source: InterPro
  5. oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor Source: MGI
  6. peptide antigen binding Source: UniProtKB

GO - Biological processi

  1. Ras protein signal transduction Source: Ensembl
  2. amyloid precursor protein catabolic process Source: Ensembl
  3. apoptotic process Source: UniProtKB
  4. cell cycle arrest Source: UniProtKB
  5. cholesterol biosynthetic process Source: UniProtKB
  6. male genitalia development Source: Ensembl
  7. negative regulation of apoptotic process Source: UniProtKB
  8. negative regulation of cell proliferation Source: Ensembl
  9. negative regulation of cysteine-type endopeptidase activity involved in apoptotic process Source: UniProtKB
  10. plasminogen activation Source: Ensembl
  11. protein localization Source: Ensembl
  12. regulation of neuron death Source: UniProtKB
  13. response to hormone Source: Ensembl
  14. response to oxidative stress Source: UniProtKB
  15. skin development Source: UniProtKB
  16. small molecule metabolic process Source: Reactome
  17. 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

ReactomeiREACT_9405. Cholesterol biosynthesis.
UniPathwayiUPA00063.

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
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:2859. DHCR24.

Subcellular locationi

Endoplasmic reticulum membrane; Single-pass membrane protein. Golgi apparatus membrane; Single-pass membrane protein 2 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini23 – 319Lumenal Reviewed prediction
Transmembranei32 – 5221Helical; Reviewed prediction
Add
BLAST
Topological domaini53 – 516464Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. Golgi membrane Source: UniProtKB-SubCell
  2. cytoskeleton Source: Ensembl
  3. cytosol Source: Ensembl
  4. endoplasmic reticulum Source: UniProtKB
  5. endoplasmic reticulum membrane Source: UniProtKB
  6. integral component of membrane Source: UniProtKB-KW
  7. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Desmosterolosis (DESMOS) [MIM:602398]: Rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti191 – 1911E → K in DESMOS. 1 Publication
Corresponds to variant rs28939093 [ dbSNP | Ensembl ].
VAR_012732
Natural varianti294 – 2941N → T in DESMOS. 1 Publication
VAR_012733
Natural varianti306 – 3061K → N in DESMOS. 1 Publication
VAR_012734
Natural varianti471 – 4711Y → S in DESMOS. 1 Publication
Corresponds to variant rs28939092 [ dbSNP | Ensembl ].
VAR_012735

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi602398. phenotype.
Orphaneti35107. Desmosterolosis.
PharmGKBiPA27320.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2222 Reviewed prediction
Add
BLAST
Chaini23 – 516494Delta(24)-sterol reductase
PRO_0000007230Add
BLAST

Proteomic databases

MaxQBiQ15392.
PaxDbiQ15392.
PeptideAtlasiQ15392.
PRIDEiQ15392.

PTM databases

PhosphoSiteiQ15392.

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

ArrayExpressiQ15392.
BgeeiQ15392.
CleanExiHS_DHCR24.
GenevestigatoriQ15392.

Organism-specific databases

HPAiCAB037247.

Interactioni

Protein-protein interaction databases

BioGridi108064. 4 interactions.
IntActiQ15392. 2 interactions.
STRINGi9606.ENSP00000360316.

Structurei

3D structure databases

ProteinModelPortaliQ15392.
SMRiQ15392. Positions 115-272.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini58 – 234177FAD-binding PCMH-type
Add
BLAST

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0277.
HOGENOMiHOG000243421.
HOVERGENiHBG051349.
InParanoidiQ15392.
KOiK09828.
OMAiLPNNPGM.
OrthoDBiEOG7H7920.
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]

Sequencei

Sequence statusi: Complete.

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

Q15392-1 [UniParc]FASTAAdd to Basket

« Hide

MEPAVSLAVC ALLFLLWVRL KGLEFVLIHQ RWVFVCLFLL PLSLIFDIYY    50
YVRAWVVFKL SSAPRLHEQR VRDIQKQVRE WKEQGSKTFM CTGRPGWLTV 100
SLRVGKYKKT HKNIMINLMD ILEVDTKKQI VRVEPLVTMG QVTALLTSIG 150
WTLPVLPELD DLTVGGLIMG TGIESSSHKY GLFQHICTAY ELVLADGSFV 200
RCTPSENSDL FYAVPWSCGT LGFLVAAEIR IIPAKKYVKL RFEPVRGLEA 250
ICAKFTHESQ RQENHFVEGL LYSLDEAVIM TGVMTDEAEP SKLNSIGNYY 300
KPWFFKHVEN YLKTNREGLE YIPLRHYYHR HTRSIFWELQ DIIPFGNNPI 350
FRYLFGWMVP PKISLLKLTQ GETLRKLYEQ HHVVQDMLVP MKCLQQALHT 400
FQNDIHVYPI WLCPFILPSQ PGLVHPKGNE AELYIDIGAY GEPRVKHFEA 450
RSCMRQLEKF VRSVHGFQML YADCYMNREE FWEMFDGSLY HKLREKLGCQ 500
DAFPEVYDKI CKAARH 516
Length:516
Mass (Da):60,101
Last modified:January 31, 2002 - v2
Checksum:iF9A769446FE19E59
GO

Sequence cautioni

The sequence BAA02806.3 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti191 – 1911E → K in DESMOS. 1 Publication
Corresponds to variant rs28939093 [ dbSNP | Ensembl ].
VAR_012732
Natural varianti294 – 2941N → T in DESMOS. 1 Publication
VAR_012733
Natural varianti306 – 3061K → N in DESMOS. 1 Publication
VAR_012734
Natural varianti471 – 4711Y → S in DESMOS. 1 Publication
Corresponds to variant rs28939092 [ dbSNP | Ensembl ].
VAR_012735

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CH471059 Genomic DNA. Translation: EAX06663.1.
CH471059 Genomic DNA. Translation: EAX06664.1.
BC004375 mRNA. Translation: AAH04375.1.
BC011669 mRNA. Translation: AAH11669.1.
CCDSiCCDS600.1.
RefSeqiNP_055577.1. NM_014762.3.
UniGeneiHs.498727.

Genome annotation databases

EnsembliENST00000371269; ENSP00000360316; ENSG00000116133.
GeneIDi1718.
KEGGihsa:1718.
UCSCiuc001cyc.1. human.

Polymorphism databases

DMDMi20141421.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
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.
RefSeqi NP_055577.1. NM_014762.3.
UniGenei Hs.498727.

3D structure databases

ProteinModelPortali Q15392.
SMRi Q15392. Positions 115-272.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108064. 4 interactions.
IntActi Q15392. 2 interactions.
STRINGi 9606.ENSP00000360316.

PTM databases

PhosphoSitei Q15392.

Polymorphism databases

DMDMi 20141421.

Proteomic databases

MaxQBi Q15392.
PaxDbi Q15392.
PeptideAtlasi Q15392.
PRIDEi Q15392.

Protocols and materials databases

DNASUi 1718.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000371269 ; ENSP00000360316 ; ENSG00000116133 .
GeneIDi 1718.
KEGGi hsa:1718.
UCSCi uc001cyc.1. human.

Organism-specific databases

CTDi 1718.
GeneCardsi GC01M055315.
HGNCi HGNC:2859. DHCR24.
HPAi CAB037247.
MIMi 602398. phenotype.
606418. gene.
neXtProti NX_Q15392.
Orphaneti 35107. Desmosterolosis.
PharmGKBi PA27320.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0277.
HOGENOMi HOG000243421.
HOVERGENi HBG051349.
InParanoidi Q15392.
KOi K09828.
OMAi LPNNPGM.
OrthoDBi EOG7H7920.
PhylomeDBi Q15392.
TreeFami TF313170.

Enzyme and pathway databases

UniPathwayi UPA00063 .
Reactomei REACT_9405. Cholesterol biosynthesis.

Miscellaneous databases

ChiTaRSi DHCR24. human.
GeneWikii 24-dehydrocholesterol_reductase.
GenomeRNAii 1718.
NextBioi 6960.
PROi Q15392.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q15392.
Bgeei Q15392.
CleanExi HS_DHCR24.
Genevestigatori Q15392.

Family and domain databases

Gene3Di 3.30.465.10. 1 hit.
InterProi IPR016169. CO_DH_flavot_FAD-bd_sub2.
IPR016166. FAD-bd_2.
IPR006094. Oxid_FAD_bind_N.
[Graphical view ]
Pfami PF01565. FAD_binding_4. 1 hit.
[Graphical view ]
SUPFAMi SSF56176. SSF56176. 1 hit.
PROSITEi PS51387. FAD_PCMH. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The human DIMINUTO/DWARF1 homolog seladin-1 confers resistance to Alzheimer's disease-associated neurodegeneration and oxidative stress."
    Greeve I., Hermans-Borgmeyer I., Brellinger C., Kasper D., Gomez-Isla T., Behl C., Levkau B., Nitsch R.M.
    J. Neurosci. 20:7345-7352(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    Tissue: Brain.
  2. "Mutations in the 3beta-hydroxysterol delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis."
    Waterham H.R., Koster J., Romeijn G.J., Hennekam R.C.M., Vreken P., Andersson H.C., FitzPatrick D.R., Kelley R.I., Wanders R.J.A.
    Am. J. Hum. Genet. 69:685-694(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], FUNCTION, TISSUE SPECIFICITY, VARIANTS DESMOS LYS-191; THR-294; ASN-306 AND SER-471.
  3. "Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1."
    Nomura N., Miyajima N., Sazuka T., Tanaka A., Kawarabayasi Y., Sato S., Nagase T., Seki N., Ishikawa K., Tabata S.
    DNA Res. 1:27-35(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Bone marrow.
  4. Ohara O., Nagase T., Kikuno R., Nomura N.
    Submitted (JAN-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: SEQUENCE REVISION TO C-TERMINUS.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain and Placenta.
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. "The membrane topological analysis of 3 {beta}-hydroxysteroid-delta24 reductase (DHCR24) on endoplasmic reticulum."
    Lu X., Li Y., Liu J., Cao X., Wang X., Wang D., Seo H., Gao B.
    J. Mol. Endocrinol. 48:1-9(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, TOPOLOGY.

Entry informationi

Entry nameiDHC24_HUMAN
AccessioniPrimary (citable) accession number: Q15392
Secondary accession number(s): D3DQ51, Q9HBA8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: January 31, 2002
Last modified: September 3, 2014
This is version 134 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

External Data

Dasty 3

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