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DHCR24

GENERAL INFORMATION

Gene name

 DHCR24

Gene description

 24-dehydrocholesterol reductase

Protein class

 Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

 Intracellular,Membrane

Number of transcripts

 3
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in a subset of tissues including hepatocytes, adrenal gland and Leydig cells.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data. Pending external verification.

Reliability score

 Approved based on 2 antibodies.
HPA063005 , CAB037247
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Adrenal gland

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 DHCR24 (HGNC Symbol)

Synonyms

 DCE, KIAA0018, seladin-1

Description

 24-dehydrocholesterol reductase (HGNC Symbol)

Entrez gene summary

 This gene encodes a flavin adenine dinucleotide (FAD)-dependent oxidoreductase which catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. The protein contains a leader sequence that directs it to the endoplasmic reticulum membrane. Missense mutations in this gene have been associated with desmosterolosis. Also, reduced expression of the gene occurs in the temporal cortex of Alzheimer disease patients and overexpression has been observed in adrenal gland cancer cells. [provided by RefSeq, Jul 2008]

Chromosome

 1

Cytoband

 p32.3

Chromosome location (bp)

 54849633 - 54887218

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000116133 (version 83.38)

Entrez gene

 1718

UniProt

 Q15392 (UniProt - Evidence at protein level)

neXtProt

 NX_Q15392

Antibodypedia

 DHCR24 antibodies

PROTEIN BROWSER
DHCR24-001
DHCR24-002
DHCR24-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
DHCR24-001
ENSP00000360316
ENST00000371269
Q15392 [Direct mapping]
Delta(24)-sterol reductase
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Enzymes
   ENZYME proteins
   Oxidoreductases
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   2TM proteins predicted by MDM
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000139 [Golgi membrane]
GO:0000246 [delta24(24-1) sterol reductase activity]
GO:0003824 [catalytic activity]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0006695 [cholesterol biosynthetic process]
GO:0006915 [apoptotic process]
GO:0006979 [response to oxidative stress]
GO:0007050 [cell cycle arrest]
GO:0007265 [Ras protein signal transduction]
GO:0008104 [protein localization]
GO:0008202 [steroid metabolic process]
GO:0008203 [cholesterol metabolic process]
GO:0008285 [negative regulation of cell proliferation]
GO:0009725 [response to hormone]
GO:0009888 [tissue development]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016125 [sterol metabolic process]
GO:0016491 [oxidoreductase activity]
GO:0016614 [oxidoreductase activity, acting on CH-OH group of donors]
GO:0016628 [oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor]
GO:0019899 [enzyme binding]
GO:0030539 [male genitalia development]
GO:0031639 [plasminogen activation]
GO:0042605 [peptide antigen binding]
GO:0042987 [amyloid precursor protein catabolic process]
GO:0043066 [negative regulation of apoptotic process]
GO:0043154 [negative regulation of cysteine-type endopeptidase activity involved in apoptotic process]
GO:0043588 [skin development]
GO:0044281 [small molecule metabolic process]
GO:0050614 [delta24-sterol reductase activity]
GO:0050660 [flavin adenine dinucleotide binding]
GO:0055114 [oxidation-reduction process]
GO:0061024 [membrane organization]
GO:1901214 [regulation of neuron death]
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 516 aa
60.1 kDa 		No 2
DHCR24-002
ENSP00000416585
ENST00000436604
H7C4B7 [Direct mapping]
Delta(24)-sterol reductase
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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GO:0005737 [cytoplasm]
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 154 aa
18.1 kDa 		No 0
DHCR24-201
ENSP00000440191
ENST00000535035
Q3LIE7 [Direct mapping]
Delta(24)-sterol reductase; Putative uncharacterized protein Nbla03646; cDNA FLJ55321, highly similar to 24-dehydrocholesterol reductase (EC 1.3.1.-); cDNA, FLJ79326, highly similar to 24-dehydrocholesterol reductase (EC 1.3.1.-)
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   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0005737 [cytoplasm]
GO:0016491 [oxidoreductase activity]
GO:0016614 [oxidoreductase activity, acting on CH-OH group of donors]
GO:0050660 [flavin adenine dinucleotide binding]
GO:0055114 [oxidation-reduction process]
Show all
 427 aa
49.4 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.