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Aliases & Descriptions for DHCR24
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| EC 1.3.1.- 3 | | KIAA0018 1, 2, 3, 5 | | Nbla03646 2 | | OTTHUMP00000011685 2 | | SELADIN1 2 | | Seladin-1 3 | | seladin-1 1, 2 |
| | | Descriptions |
|---|
| 24-dehydrocholesterol reductase 2 | | 3 beta-hydroxysterol delta 24-reductase 2 | | 3-beta-hydroxysterol delta-24-reductase 3 | | Diminuto/dwarf1 homolog 2, 3 | | putative protein product of Nbla03646 2 | | selective AD indicator 1 2 |
|
| | Search outside databases for aliases for DHCR24 genePrevious GC identifers: GC01M055152 GC01M054217 GC01M054659 GC01M054685 |
Summaries for DHCR24(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for DHCR24: 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] UniProtKB/Swiss-Prot: DHC24_HUMAN, Q15392Function: 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 apoptosisGene Wiki entry for DHCR24 (24-dehydrocholesterol_reductase) |
Genomic Location for DHCR24
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the DHCR24 gene 
Entrez Gene cytogenetic band: 1p33-p31.1 Ensembl cytogenetic band: 1p32.3 HGNC cytogenetic band: 1p32.3DHCR24 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01M055027:
(about GC identifiers)
Start:
|
55,087,888 bp from pter |
End:
|
55,125,509 bp from pter |
Size:
|
37,622 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000001.9 NT_032977.8
| Proteins for DHCR24
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: DHC24_HUMAN, Q15392 (See
protein sequence)Recommended Name: 24-dehydrocholesterol reductase precursor Size: 516 amino acids; 60101 Da
Cofactor: FAD
Subcellular location: Endoplasmic reticulum membrane; Single-pass membrane protein. Golgi apparatus membrane; Single-pass membrane protein
Secondary accessions: Q9HBA8Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_055577.1
ENSEMBL proteins: ENSP00000360316
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
5/7 Gene Ontology (GO) cellular component terms (links to tree view) (see all 7
): About this table
Antibodies for DHCR24: Assays for DHCR24: | Protein
Domains/ Families for DHCR24(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q15392
ProtoNet protein and cluster: Q15392 UniProtKB/Swiss-Prot: DHC24_HUMAN, Q15392Similarity: Belongs to the FAD-binding oxidoreductase/transferase type 4 familySimilarity: Contains 1 FAD-binding PCMH-type domain | Gene Function for DHCR24
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_014762
Applied Biosystems Silencer® siRNAs for DHCR24
Sigma-Aldrich siRNA for DHCR24  Sigma-Aldrich shRNA for DHCR24  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_014762                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_014762                                  untagged cDNA clone in CMV expression vector: NM_014762 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_014762
UniProtKB/Swiss-Prot: DHC24_HUMAN, Q15392Function: 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 apoptosisEnzyme Number (IUBMB): EC 1.3.1.- 6 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Dhcr24):
5 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for DHCR24
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| 4 Sigma-Aldrich "Your Favorite Gene" Pathways for DHCR24 (Your Favorite Gene powered by Ingenuity) 
UniProtKB/Swiss-Prot: DHC24_HUMAN, Q15392Pathway: Steroid biosynthesis; cholesterol biosynthesis Gene Network CentralTM Interacting Genes and Proteins Network for DHCR24 
5/16 Interacting proteins for DHCR24 (ENSP000003603163) via UniProtKB, MINT, and/or STRING (see all 16
)About this table
5/15 Gene Ontology (GO) biological process terms (links to tree view) (see all 15
): About this table
|
Drugs & Compounds for DHCR24(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for DHCR24 4 Novoseek chemical compound relationships for DHCR24 gene
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| 3beta-hydroxysterol |
96.06 |
5 |
15688385 (1), 11519011 (1), 15001630 (1), 18768664 (1) |
| desmosterol |
94.62 |
14 |
12457401 (3), 17094431 (1), 16762343 (1), 15001630 (1) (see all 8) |
| cholesterol |
61.68 |
38 |
17984220 (3), 15688385 (2), 18394665 (2), 17510943 (2) (see all 17) |
| sterol |
56.95 |
5 |
17984220 (1), 11519011 (1), 12457401 (1), 19283968 (1) |
About this table
|
Transcripts for DHCR24(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_014762
Sigma-Aldrich siRNA for DHCR24  Sigma-Aldrich shRNA for DHCR24  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_014762 REFSEQ mRNAs for DHCR24 gene: NM_014762.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_014762               OriGene GFP tagged cDNA clone in CMV expression vector: NM_014762                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_014762                                  untagged cDNA clone in CMV expression vector: NM_014762  Additional cDNA sequence: AB073391.1 AF261758.1 AK298414.1 AK302774.1 AK304302.1 AK304421.1 AK304437.1 AK316419.1 AK316427.1 BC004375.1 BC011669.2 CR609488.1 D13643.3 24/45 DOTS entries (see all 45
): DT.95228106 DT.100885748 DT.100885752 DT.449037 DT.91882207 DT.100885762 DT.95344396 DT.121395022 DT.91773850 DT.95272537 DT.100885753 DT.100885751 DT.121395011 DT.121395026 DT.121394969 DT.100885756 DT.121394983 DT.121394986 DT.75119490 DT.91773843 DT.99976414 DT.100885733 DT.121394960 DT.121395028 24/894 AceView cDNA sequences (see all 894
):BU191126 BU859061 BQ925619 BU146312 BE747340 BU166631 BC011669 BM564549 BP338861 BI060615 BM561620 BU172322 BM753988 CF145147 AU131512 AU131997 BM745855 AL046697 AU132109 BU191046 BE745944 CR609488 BG248956 AA774904
highest scoring ESTs for DHCR24:D13643 AF261758 AL119964 AL559719 AL701503 AL701520 AU128814 AU130393 AU131476 AU131512 Unigene Cluster for DHCR24: 24-dehydrocholesterol reductase Hs.498727 [show with all ESTs]Unigene Representative Sequence: NM_014762
GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for DHCR24
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | |
| SP1: | |   | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | - |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for DHCR24
1 Ensembl transcript including schematic representation: ENST00000371269
|
Expression for DHCR24
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| DHCR24 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for DHCR24
1 / 2 / 3 4 probe-sets matching DHCR24 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: TCCCCGTGGC
SOURCE GeneReport for Unigene cluster: Hs.498727
Expression variation in blood from EXPOLDB for DHCR24 UniProtKB/Swiss-Prot: DHC24_HUMAN, Q15392Tissue specificity: 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 |
Orthologs for DHCR24
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for DHCR24 gene from 5/14 species (see all 14
)
About this table Species with no ortholog for DHCR24
ENSEMBL Gene Tree for DHCR24 | Paralogs for DHCR24(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| -- |
SNPs/Variants for DHCR24(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for DHCR24 (up to first 250kb)
|
Disorders & Mutations for DHCR24
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 606418 disorders: 602398 UniProtKB/Swiss-Prot: DHC24_HUMAN, Q15392
Defects in DHCR24 are the cause of desmosterolosis [MIM:602398]. It is a rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells4 Novoseek disease relationships for DHCR24 gene
About this table
Human Gene Mutation Database: DHCR24 Human Genome Epidemiology Navigator: DHCR24 (3 documents)
|
Medical News for DHCR24(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for DHCR24 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/41 PubMed articles for DHCR24 gene (see all 41
):- Mutations in the 3beta-hydroxysterol delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. (PubMed id 11519011)1, 2, 3, 4 Waterham H.R.... Wanders R.J.A. (2001)
- The human DIMINUTO/DWARF1 homolog seladin-1 confers resistance to Alzheimer's disease-associated neurodegeneration and oxidative stress. (PubMed id 11007892)1, 3, 4 Greeve I.... Nitsch R.M. (2000)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- 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. (PubMed id 7584026)3, 4 Nomura N....Tabata S. (1994)
- DHCR24 gene expression is upregulated in melanoma metastases and associated to resistance to oxidative stress-induced apoptosis. (PubMed id 15688385)1, 3 Di Stasi D....Rodolfo M. (2005)
- Prosurvival effect of DHCR24/Seladin-1 in acute and chronic responses to oxidative stress. (PubMed id 17984220)1, 3 Kuehnle K....Mohajeri M.H. (2008)
- Seladin-1 is a fundamental mediator of the neuroprotective effects of estrogen in human neuroblast long-term cell cultures. (PubMed id 18499757)1, 3 Luciani P....Peri A. (2008)
- Seladin-1 as a target of estrogen receptor activation in the brain: a new gene for a rather old story? (PubMed id 15954227)1, 3 Peri A....Serio M. (2005)
- Regulation of cellular response to oncogenic and oxidative stress by Seladin-1. (PubMed id 15577914)1, 3 Wu C....Galaktionov K. (2004)
- Neuronal differentiation of human mesenchymal stem cells: changes in the expression of the Alzheimer's disease-related gene seladin-1. (PubMed id 16762343)1, 3 Benvenuti S....Peri A. (2006)
|
Search for DHCR24
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing DHCR24
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing DHCR24
(According to HUGE)
About This Section
| |
Specialized Databases showing DHCR24(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| --
| Services for DHCR24(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for DHCR24:

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| Antibodies & Assays for DHCR24  (DHCR24/Seladin-1) |
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Incremental update: 13 Oct 2009
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