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

Gene ID: 1718, updated on 11-Sep-2019

Summary

Official Symbol
DHCR24provided by HGNC
Official Full Name
24-dehydrocholesterol reductaseprovided by HGNC
Primary source
HGNC:HGNC:2859
See related
Ensembl:ENSG00000116133 MIM:606418
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]
Expression
Biased expression in adrenal (RPKM 515.3), liver (RPKM 200.4) and 12 other tissues See more
Orthologs

Genomic context

See DHCR24 in Genome Data Viewer
Location:
1p32.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (54849627..54887195, 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 DHCR24 divergent transcript Neighboring gene transfer RNA lysine (anticodon CUU)

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0018

Gene Ontology Provided by GOA

Function Evidence Code Pubs
FAD binding IEA
Inferred from Electronic Annotation
more info
 
delta24(24-1) sterol reductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
protein 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
 
steroid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tissue development IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 HDA PubMed 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
delta(24)-sterol reductase
Names
3 beta-hydroxysterol delta 24-reductase
desmosterol-to-cholesterol enzyme
diminuto/dwarf1 homolog
seladin 1
selective AD indicator 1
NP_055577.1

NCBI Reference Sequences (RefSeq)

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
    5054..42622
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014762.4NP_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
    ENSP00000360316.3, ENST00000371269.9
    Conserved Domains (1) summary
    COG0277
    Location:114263
    GlcD; FAD/FMN-containing dehydrogenase [Energy production and conversion]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    54849627..54887195 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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