• Gene id: 1718

Gene Summary

• Gene Symbol: DHCR24   Gene   UCSC   Ensembl
• Aliases: DCE, Nbla03646, SELADIN1, seladin-1
• Gene name: 24-dehydrocholesterol reductase
• Alternate names: delta(24)-sterol reductase, 3 beta-hydroxysterol delta 24-reductase, desmosterol-to-cholesterol enzyme, diminuto/dwarf1 homolog, seladin 1, selective AD indicator 1,
• Gene location: 1p32.3 (54887194: 54849626)     Exons: 9     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 606418

Protein Summary

• Protein general information: Q15392  
  • Name: Delta(24) sterol reductase (EC 1.3.1.72) (24 dehydrocholesterol reductase) (3 beta hydroxysterol Delta 24 reductase) (Diminuto/dwarf1 homolog) (Seladin 1)
  • Length: 516  
  • Mass: 60101
  • 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 corti
• Sequence:

  MEPAVSLAVCALLFLLWVRLKGLEFVLIHQRWVFVCLFLLPLSLIFDIYYYVRAWVVFKLSSAPRLHEQRVRDIQ
  KQVREWKEQGSKTFMCTGRPGWLTVSLRVGKYKKTHKNIMINLMDILEVDTKKQIVRVEPLVTMGQVTALLTSIG
  WTLPVLPELDDLTVGGLIMGTGIESSSHKYGLFQHICTAYELVLADGSFVRCTPSENSDLFYAVPWSCGTLGFLV
  AAEIRIIPAKKYVKLRFEPVRGLEAICAKFTHESQRQENHFVEGLLYSLDEAVIMTGVMTDEAEPSKLNSIGNYY
  KPWFFKHVENYLKTNREGLEYIPLRHYYHRHTRSIFWELQDIIPFGNNPIFRYLFGWMVPPKISLLKLTQGETLR
  KLYEQHHVVQDMLVPMKCLQQALHTFQNDIHVYPIWLCPFILPSQPGLVHPKGNEAELYIDIGAYGEPRVKHFEA
  RSCMRQLEKFVRSVHGFQMLYADCYMNREEFWEMFDGSLYHKLREKLGCQDAFPEVYDKICKAARH

• Structural information:
  • Protein Domains: (58..23-)
    (/note="FAD-binding-PCMH-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00718"-)
  • Interpro: IPR040165  IPR016166  IPR036318  IPR016169  IPR006094  
  • Prosite: PS51387
  • STRING: ENSP00000360316
• Other Databases: GeneCards:  DHCR24  Malacards:  DHCR24

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016020	membrane	IBA	cellular component
GO:0008202	steroid metabolic process	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0016628	oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	IBA	molecular function
GO:0000246	delta24(24-1) sterol reductase activity	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050660	flavin adenine dinucleotide binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0071949	FAD binding	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0006695	cholesterol biosynthetic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0008202	steroid metabolic process	IEA	biological process
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016126	sterol biosynthetic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0050614	delta24-sterol reductase activity	IEA	molecular function
GO:0016628	oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	IDA	molecular function
GO:0006695	cholesterol biosynthetic process	IMP	biological process
GO:0050614	delta24-sterol reductase activity	EXP	molecular function
GO:0033489	cholesterol biosynthetic process via desmosterol	TAS	biological process
GO:0033490	cholesterol biosynthetic process via lathosterol	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0008104	protein localization	IEA	biological process
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0009888	tissue development	IEA	biological process
GO:0016125	sterol metabolic process	IEA	biological process
GO:0043588	skin development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0008202	steroid metabolic process	IEA	biological process
GO:0009725	response to hormone	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0061024	membrane organization	IEA	biological process
GO:0006695	cholesterol biosynthetic process	IEA	biological process
GO:0030539	male genitalia development	IEA	biological process
GO:0031639	plasminogen activation	IEA	biological process
GO:0042987	amyloid precursor protein catabolic process	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0007265	Ras protein signal transduction	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0006695	cholesterol biosynthetic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0043154	negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0042605	peptide antigen binding	IPI	molecular function
GO:0006695	cholesterol biosynthetic process	ISS	biological process
GO:0055114	oxidation-reduction process	IMP	biological process
GO:1901214	regulation of neuron death	NAS	biological process
GO:0043588	skin development	ISS	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0009888	tissue development	IMP	biological process
GO:0007050	cell cycle arrest	NAS	biological process
GO:0005789	endoplasmic reticulum membrane	NAS	cellular component
GO:0000246	delta24(24-1) sterol reductase activity	IMP	molecular function
GO:0006979	response to oxidative stress	IEP	biological process
GO:0006915	apoptotic process	NAS	biological process
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00100	Steroid biosynthesis

Diseases

Associated diseases	References
Desmosterolosis	KEGG:H00617
Desmosterolosis	KEGG:H00617
Lipid metabolism disorder	PMID:11519011
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq