Gene/Proteome Database (LMPD)

LMPD ID
LMP002230
Gene ID
1718
Species
Homo sapiens (Human)
Gene Name
24-dehydrocholesterol reductase
Gene Symbol
DHCR24
Synonyms
DCE; Nbla03646; SELADIN1; seladin-1
Alternate Names
delta(24)-sterol reductase; seladin 1; diminuto/dwarf1 homolog; selective AD indicator 1; desmosterol-to-cholesterol enzyme; 3 beta-hydroxysterol delta 24-reductase; 3-beta-hydroxysterol delta-24-reductase
Chromosome
1
Map Location
1p32.3
EC Number
1.3.1.72
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
View orthologs and multiple alignments for DHCR24

Proteins

delta(24)-sterol reductase precursor
Refseq ID NP_055577
Protein GI 13375618
UniProt ID Q15392
mRNA ID NM_014762
Length 516
RefSeq Status REVIEWED
MEPAVSLAVCALLFLLWVRLKGLEFVLIHQRWVFVCLFLLPLSLIFDIYYYVRAWVVFKLSSAPRLHEQRVRDIQKQVREWKEQGSKTFMCTGRPGWLTVSLRVGKYKKTHKNIMINLMDILEVDTKKQIVRVEPLVTMGQVTALLTSIGWTLPVLPELDDLTVGGLIMGTGIESSSHKYGLFQHICTAYELVLADGSFVRCTPSENSDLFYAVPWSCGTLGFLVAAEIRIIPAKKYVKLRFEPVRGLEAICAKFTHESQRQENHFVEGLLYSLDEAVIMTGVMTDEAEPSKLNSIGNYYKPWFFKHVENYLKTNREGLEYIPLRHYYHRHTRSIFWELQDIIPFGNNPIFRYLFGWMVPPKISLLKLTQGETLRKLYEQHHVVQDMLVPMKCLQQALHTFQNDIHVYPIWLCPFILPSQPGLVHPKGNEAELYIDIGAYGEPRVKHFEARSCMRQLEKFVRSVHGFQMLYADCYMNREEFWEMFDGSLYHKLREKLGCQDAFPEVYDKICKAARH
sig_peptide: 1..22 calculated_mol_wt: 2430 peptide sequence: MEPAVSLAVCALLFLLWVRLKG mat_peptide: 23..516 product: delta(24)-sterol reductase calculated_mol_wt: 57690 peptide sequence: LEFVLIHQRWVFVCLFLLPLSLIFDIYYYVRAWVVFKLSSAPRLHEQRVRDIQKQVREWKEQGSKTFMCTGRPGWLTVSLRVGKYKKTHKNIMINLMDILEVDTKKQIVRVEPLVTMGQVTALLTSIGWTLPVLPELDDLTVGGLIMGTGIESSSHKYGLFQHICTAYELVLADGSFVRCTPSENSDLFYAVPWSCGTLGFLVAAEIRIIPAKKYVKLRFEPVRGLEAICAKFTHESQRQENHFVEGLLYSLDEAVIMTGVMTDEAEPSKLNSIGNYYKPWFFKHVENYLKTNREGLEYIPLRHYYHRHTRSIFWELQDIIPFGNNPIFRYLFGWMVPPKISLLKLTQGETLRKLYEQHHVVQDMLVPMKCLQQALHTFQNDIHVYPIWLCPFILPSQPGLVHPKGNEAELYIDIGAYGEPRVKHFEARSCMRQLEKFVRSVHGFQMLYADCYMNREEFWEMFDGSLYHKLREKLGCQDAFPEVYDKICKAARH

Gene Information

Entrez Gene ID
1718
Gene Name
24-dehydrocholesterol reductase
Gene Symbol
DHCR24
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005856 IEA:Ensembl C cytoskeleton
GO:0005829 IEA:Ensembl C cytosol
GO:0005783 IDA:UniProtKB C endoplasmic reticulum
GO:0005789 NAS:UniProtKB C endoplasmic reticulum membrane
GO:0005794 IEA:UniProtKB-KW C Golgi apparatus
GO:0016021 IEA:UniProtKB-KW C integral component of membrane
GO:0016020 IDA:UniProtKB C membrane
GO:0005634 IDA:UniProtKB C nucleus
GO:0000246 IMP:UniProtKB F delta24(24-1) sterol reductase activity
GO:0050614 IEA:UniProtKB-EC F delta24-sterol reductase activity
GO:0019899 IPI:UniProtKB F enzyme binding
GO:0050660 IEA:InterPro F flavin adenine dinucleotide binding
GO:0016628 IDA:MGI F oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor
GO:0042605 IPI:UniProtKB F peptide antigen binding
GO:0008762 IEA:InterPro F UDP-N-acetylmuramate dehydrogenase activity
GO:0042987 IEA:Ensembl P amyloid precursor protein catabolic process
GO:0006915 NAS:UniProtKB P apoptotic process
GO:0007050 NAS:UniProtKB P cell cycle arrest
GO:0006695 ISS:UniProtKB P cholesterol biosynthetic process
GO:0030539 IEA:Ensembl P male genitalia development
GO:0061024 IEA:Ensembl P membrane organization
GO:0043066 IDA:UniProtKB P negative regulation of apoptotic process
GO:0008285 IEA:Ensembl P negative regulation of cell proliferation
GO:0043154 IDA:UniProtKB P negative regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0055114 IMP:UniProtKB P oxidation-reduction process
GO:0031639 IEA:Ensembl P plasminogen activation
GO:0008104 IEA:Ensembl P protein localization
GO:0007265 IEA:Ensembl P Ras protein signal transduction
GO:1901214 NAS:UniProtKB P regulation of neuron death
GO:0009725 IEA:Ensembl P response to hormone
GO:0006979 IEP:UniProtKB P response to oxidative stress
GO:0043588 ISS:UniProtKB P skin development
GO:0044281 TAS:Reactome P small molecule metabolic process
GO:0009888 IMP:UniProtKB P tissue development

KEGG Pathway Links

KEGG Pathway ID Description
hsa00100 Steroid biosynthesis

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_9405 Cholesterol biosynthesis

Domain Information

InterPro Annotations

Accession Description
IPR016169 CO dehydrogenase flavoprotein-like, FAD-binding, subdomain 2
IPR016166 FAD-binding, type 2
IPR006094 FAD linked oxidase, N-terminal

UniProt Annotations

Entry Information

Gene Name
24-dehydrocholesterol reductase
Protein Entry
DHC24_HUMAN
UniProt ID
Q15392
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q15392-1; Sequence=Displayed; Name=2; IsoId=Q15392-2; Sequence=VSP_056479; Note=No experimental confirmation available.;
Catalytic Activity 5-alpha-cholest-7-en-3-beta-ol + NADP(+) = 5- alpha-cholesta-7,24-dien-3-beta-ol + NADPH.
Cofactor Name=FAD; Xref=ChEBI
Disease Desmosterolosis (DESMOS) [MIM
Function 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 apoptosis. {ECO
Pathway Steroid biosynthesis; cholesterol biosynthesis.
Sequence Caution Sequence=BAA02806.3; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence= ;
Similarity Belongs to the FAD-binding oxidoreductase/transferase type 4 family.
Similarity Contains 1 FAD-binding PCMH-type domain.
Subcellular Location Endoplasmic reticulum membrane; Single-pass membrane protein. Golgi apparatus membrane; Single-pass membrane protein.
Tissue 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. {ECO

Identical and Related Proteins

Unique RefSeq proteins for LMP002230 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
13375618 RefSeq NP_055577 516 delta(24)-sterol reductase precursor

Identical Sequences to LMP002230 proteins

Reference Database Accession Length Protein Name
GI:13375618 GenBank AEN35724.1 516 Sequence 1652 from patent US 7998689
GI:13375618 GenBank AFD52021.1 516 Sequence 83 from patent US 8133877
GI:13375618 GenBank AGA41943.1 516 Sequence 2 from patent US 8323906
GI:13375618 GenBank AGP17951.1 516 Sequence 26 from patent US 8461413
GI:13375618 GenBank AHD69445.1 516 Sequence 459 from patent US 8586006
GI:13375618 GenBank AIC48639.1 516 DHCR24, partial [synthetic construct]

Related Sequences to LMP002230 proteins

Reference Database Accession Length Protein Name
GI:13375618 DBBJ BAA02806.3 553 KIAA0018 protein, partial [Homo sapiens]
GI:13375618 GenBank AAP36155.1 517 Homo sapiens 24-dehydrocholesterol reductase, partial [synthetic construct]
GI:13375618 GenBank AAX29082.1 517 24-dehydrocholesterol reductase, partial [synthetic construct]
GI:13375618 GenBank ACW04115.1 528 Sequence 102 from patent US 7553492
GI:13375618 GenBank AFD52040.1 528 Sequence 102 from patent US 8133877
GI:13375618 GenBank JAA14578.1 516 24-dehydrocholesterol reductase [Pan troglodytes]