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DHCR24 24-dehydrocholesterol reductase [ Homo sapiens (human) ]

Gene ID: 1718, updated on 26-May-2016
Official Symbol
DHCR24provided by HGNC
Official Full Name
24-dehydrocholesterol reductaseprovided by HGNC
Primary source
HGNC:HGNC:2859
See related
Ensembl:ENSG00000116133 HPRD:05916; MIM:606418; Vega:OTTHUMG00000009989
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DCE; SELADIN1; Nbla03646; seladin-1
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]
Orthologs
Location:
1p32.3
Exon count:
9
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (54849627..54887248, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (55315300..55352921, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene tetratricopeptide repeat domain 22 Neighboring gene lymphocyte expansion molecule Neighboring gene transfer RNA lysine (anticodon CUU) Neighboring gene uncharacterized LOC105378736

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 is identified to have a physical interaction with 24-dehydrocholesterol reductase (DHCR24) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA0018

Gene Ontology Provided by GOA

Function Evidence Code Pubs
delta24(24-1) sterol reductase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
delta24-sterol reductase activity EXP
Inferred from Experiment
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
flavin adenine dinucleotide binding IEA
Inferred from Electronic Annotation
more info
 
oxidoreductase activity, acting on CH-OH group of donors IEA
Inferred from Electronic Annotation
more info
 
oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor IDA
Inferred from Direct Assay
more info
PubMed 
peptide antigen binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Ras protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
amyloid precursor protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
apoptotic process NAS
Non-traceable Author Statement
more info
PubMed 
cell cycle arrest NAS
Non-traceable Author Statement
more info
PubMed 
cholesterol biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
cholesterol biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
cholesterol biosynthetic process via desmosterol TAS
Traceable Author Statement
more info
 
cholesterol biosynthetic process via lathosterol TAS
Traceable Author Statement
more info
 
male genitalia development IEA
Inferred from Electronic Annotation
more info
 
membrane organization IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
oxidation-reduction process IMP
Inferred from Mutant Phenotype
more info
PubMed 
plasminogen activation IEA
Inferred from Electronic Annotation
more info
 
protein localization IEA
Inferred from Electronic Annotation
more info
 
regulation of neuron death NAS
Non-traceable Author Statement
more info
PubMed 
response to hormone IEA
Inferred from Electronic Annotation
more info
 
response to oxidative stress IEP
Inferred from Expression Pattern
more info
PubMed 
skin development ISS
Inferred from Sequence or Structural Similarity
more info
 
tissue development IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane NAS
Non-traceable Author Statement
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
delta(24)-sterol reductase
Names
3 beta-hydroxysterol delta 24-reductase
3-beta-hydroxysterol delta-24-reductase
desmosterol-to-cholesterol enzyme
diminuto/dwarf1 homolog
seladin 1
selective AD indicator 1
NP_055577.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008839.1 RefSeqGene

    Range
    5001..42622
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014762.3NP_055577.1  delta(24)-sterol reductase precursor

    See identical proteins and their annotated locations for NP_055577.1

    Status: REVIEWED

    Source sequence(s)
    AC096536, BC004375, BP200916
    Consensus CDS
    CCDS600.1
    UniProtKB/Swiss-Prot
    Q15392
    Related
    ENSP00000360316, OTTHUMP00000011685, ENST00000371269, OTTHUMT00000027680
    Conserved Domains (2) summary
    COG0277
    Location:114263
    GlcD; FAD/FMN-containing dehydrogenase [Energy production and conversion]
    pfam01565
    Location:114203
    FAD_binding_4; FAD binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    54849627..54887248 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    55431045..55468571 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)