Expression of DHCR24 in cancer - Summary

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 category

TCGA (cancer tissue):	Expressed in all
HPA (cell line):	Mixed
HPA (normal tissue):	Expressed in all

Protein evidence

Evidence at protein level

Protein expression
normal tissue

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

ANTIBODY IHC 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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PROGNOSTIC SUMMARY
Prognostic marker in endometrial cancer (unfavourable).
Endometrial cancer p<0.001 Show all

RNA EXPRESSION OVERVIEW
TCGA dataset RNA cancer category: Expressed in all

PROTEIN EXPRESSION

STAINING SUMMARY

HPA063005	CAB037247

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 Show all	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] Show all	516 aa 60.1 kDa	No	2
DHCR24-002 ENSP00000416585 ENST00000436604	H7C4B7 [Direct mapping] Delta(24)-sterol reductase Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005737 [cytoplasm] Show all	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.-) Show all	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