Details for: DHCR24

Gene ID: 1718

Symbol: DHCR24

Ensembl ID: ENSG00000116133

Description: 24-dehydrocholesterol reductase

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 11.94
    Marker Score: 211,996
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 5.77
    Marker Score: 18,890
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 3.81
    Marker Score: 5,364
  • Cell Name: type I pneumocyte (CL0002062)
    Fold Change: 3.12
    Marker Score: 3,760
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 3.09
    Marker Score: 4,963
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 2.95
    Marker Score: 19,227
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 2.34
    Marker Score: 1,567
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 2.32
    Marker Score: 12,192
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 2.19
    Marker Score: 17,110
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 2.14
    Marker Score: 15,915
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 2.1
    Marker Score: 693
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 2.09
    Marker Score: 604
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 2.06
    Marker Score: 2,218
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 2.05
    Marker Score: 17,832
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 2.03
    Marker Score: 10,926
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 2.02
    Marker Score: 3,692
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.97
    Marker Score: 31,630
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 1.91
    Marker Score: 856
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.85
    Marker Score: 15,932
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 1.84
    Marker Score: 6,319
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 1.81
    Marker Score: 1,056
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.79
    Marker Score: 1,882
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.78
    Marker Score: 7,690
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 1.76
    Marker Score: 868
  • Cell Name: tracheobronchial goblet cell (CL0019003)
    Fold Change: 1.7
    Marker Score: 465
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 1.67
    Marker Score: 10,645
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 1.66
    Marker Score: 774
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.58
    Marker Score: 10,152
  • Cell Name: club cell (CL0000158)
    Fold Change: 1.46
    Marker Score: 1,709
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 1.45
    Marker Score: 8,584
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.41
    Marker Score: 2,858
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.4
    Marker Score: 48,471
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 1.39
    Marker Score: 1,492
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 1.38
    Marker Score: 958
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.37
    Marker Score: 13,746
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 1.36
    Marker Score: 2,582
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 1.32
    Marker Score: 337
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.3
    Marker Score: 5,025
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 1.3
    Marker Score: 886
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 1.3
    Marker Score: 1,158
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 1.3
    Marker Score: 2,939
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.28
    Marker Score: 2,271
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 1.27
    Marker Score: 2,016
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 1.23
    Marker Score: 3,849
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 1.18
    Marker Score: 495
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 1.17
    Marker Score: 3,178
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.16
    Marker Score: 2,730
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 1.16
    Marker Score: 636
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 1.11
    Marker Score: 758
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 1.1
    Marker Score: 520
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1.09
    Marker Score: 1,160
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.09
    Marker Score: 17,054
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 1.08
    Marker Score: 2,582
  • Cell Name: pulmonary ionocyte (CL0017000)
    Fold Change: 1.06
    Marker Score: 648
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251,743
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 1.02
    Marker Score: 381
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.01
    Marker Score: 1,269
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 1.01
    Marker Score: 4,204
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,764
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47,988
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.99
    Marker Score: 4,751
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.99
    Marker Score: 1,869
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,402
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 0.98
    Marker Score: 817
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.96
    Marker Score: 497
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 0.96
    Marker Score: 303
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.95
    Marker Score: 451
  • Cell Name: epithelial cell of stratum germinativum of esophagus (CL1000447)
    Fold Change: 0.95
    Marker Score: 230
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,409
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.95
    Marker Score: 9,772
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.93
    Marker Score: 3,806
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5,301
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.93
    Marker Score: 939
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.92
    Marker Score: 2,096
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.92
    Marker Score: 7,885
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.91
    Marker Score: 1,860
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.91
    Marker Score: 949
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.91
    Marker Score: 2,446
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2,727
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.9
    Marker Score: 742
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.89
    Marker Score: 204
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.88
    Marker Score: 318
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.88
    Marker Score: 437
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,296
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.87
    Marker Score: 1,344
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.87
    Marker Score: 328
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.87
    Marker Score: 325
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.87
    Marker Score: 958
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.87
    Marker Score: 214
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.86
    Marker Score: 3,369
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.86
    Marker Score: 1,231
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.85
    Marker Score: 852
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.85
    Marker Score: 52,156
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.84
    Marker Score: 775
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.83
    Marker Score: 832
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.82
    Marker Score: 934
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.82
    Marker Score: 624
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.79
    Marker Score: 315
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.79
    Marker Score: 769
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1,269

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** 1. **Function**: 24-dehydrocholesterol reductase is a cytochrome P450 enzyme that catalyzes the reduction of 24-dehydrocholesterol to cholesterol in the endoplasmic reticulum. 2. **Expression**: The DHCR24 gene is highly expressed in cells of the adrenal gland, liver, lung, and skin, indicating its widespread importance in various tissues. 3. **Disease Association**: Mutations in the DHCR24 gene have been linked to X-linked ichthyosis and congenital ichthyosis, highlighting its critical role in maintaining skin health and function. 4. **Metabolic Pathway**: The DHCR24 enzyme is involved in the cholesterol biosynthesis pathway, specifically in the conversion of 24-dehydrocholesterol to cholesterol. **Pathways and Functions** 1. **Cholesterol Biosynthesis**: The DHCR24 enzyme is a key component in the cholesterol biosynthesis pathway, converting 24-dehydrocholesterol to cholesterol. 2. **Desmosterol and Lathosterol Biosynthesis**: The DHCR24 enzyme is also involved in the biosynthesis of desmosterol and lathosterol, two important intermediates in the cholesterol biosynthesis pathway. 3. **Steroid Metabolic Process**: The DHCR24 enzyme plays a role in the metabolic process of steroids, including cholesterol and its derivatives. 4. **Metabolism of Lipids and Steroids**: The DHCR24 enzyme is involved in the metabolism of lipids and steroids, highlighting its importance in maintaining lipid and steroid homeostasis. **Clinical Significance** 1. **X-linked Ichthyosis**: Mutations in the DHCR24 gene have been identified as the primary cause of X-linked ichthyosis, a genetic disorder characterized by dry, scaly skin. 2. **Congenital Ichthyosis**: Congenital ichthyosis, a group of genetic disorders affecting skin development, has also been linked to mutations in the DHCR24 gene. 3. **Cholesterol Biosynthesis**: The DHCR24 enzyme plays a critical role in maintaining cholesterol homeostasis, and alterations in its function or expression can lead to cholesterol biosynthesis defects. 4. **Skin Development and Function**: The DHCR24 enzyme is essential for maintaining skin health and function, and its dysregulation can lead to skin disorders and developmental abnormalities. In conclusion, the DHCR24 gene plays a crucial role in maintaining cholesterol homeostasis and skin health, and its dysregulation can lead to various diseases, including X-linked ichthyosis and congenital ichthyosis. Further research is necessary to fully understand the mechanisms underlying DHCR24 function and its role in human disease.

Genular Protein ID: 446735536

Symbol: DHC24_HUMAN

Name: Delta(24)-sterol reductase

UniProtKB Accession Codes:

Q15392 B7Z817 D3DQ51 Q9HBA8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEBI 17 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 2 EMBL 15 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 26 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 3 RefSeq 1 Rhea 6 SIGNOR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 11007892

Title: The human DIMINUTO/DWARF1 homolog seladin-1 confers resistance to Alzheimer's disease-associated neurodegeneration and oxidative stress.

PubMed ID: 11007892

DOI: 10.1523/jneurosci.20-19-07345.2000

PubMed ID: 11519011

Title: Mutations in the 3beta-hydroxysterol delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.

PubMed ID: 11519011

DOI: 10.1086/323473

PubMed ID: 7584026

Title: 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

DOI: 10.1093/dnares/1.1.27

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 21671375

Title: Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.

PubMed ID: 21671375

DOI: 10.1002/ajmg.a.34040

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22178193

Title: The endogenous regulator 24(S),25-epoxycholesterol inhibits cholesterol synthesis at DHCR24 (Seladin-1).

PubMed ID: 22178193

DOI: 10.1016/j.bbalip.2011.11.009

PubMed ID: 22010141

Title: The membrane topological analysis of 3 {beta}-hydroxysteroid-delta24 reductase (DHCR24) on endoplasmic reticulum.

PubMed ID: 22010141

DOI: 10.1530/jme-11-0132

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25637936

Title: The terminal enzymes of cholesterol synthesis, DHCR24 and DHCR7, interact physically and functionally.

PubMed ID: 25637936

DOI: 10.1194/jlr.m056986

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

Sequence Information:

  • Length: 516
  • Mass: 60101
  • Checksum: F9A769446FE19E59
  • Sequence:
    • MEPAVSLAVC ALLFLLWVRL KGLEFVLIHQ RWVFVCLFLL PLSLIFDIYY YVRAWVVFKL 
SSAPRLHEQR VRDIQKQVRE WKEQGSKTFM CTGRPGWLTV SLRVGKYKKT HKNIMINLMD 
ILEVDTKKQI VRVEPLVTMG QVTALLTSIG WTLPVLPELD DLTVGGLIMG TGIESSSHKY 
GLFQHICTAY ELVLADGSFV RCTPSENSDL FYAVPWSCGT LGFLVAAEIR IIPAKKYVKL 
RFEPVRGLEA ICAKFTHESQ RQENHFVEGL LYSLDEAVIM TGVMTDEAEP SKLNSIGNYY 
KPWFFKHVEN YLKTNREGLE YIPLRHYYHR HTRSIFWELQ DIIPFGNNPI FRYLFGWMVP 
PKISLLKLTQ GETLRKLYEQ HHVVQDMLVP MKCLQQALHT FQNDIHVYPI WLCPFILPSQ 
PGLVHPKGNE AELYIDIGAY GEPRVKHFEA RSCMRQLEKF VRSVHGFQML YADCYMNREE 
FWEMFDGSLY HKLREKLGCQ DAFPEVYDKI CKAARH

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.