Details for: DHCR7

Gene ID: 1717

Symbol: DHCR7

Ensembl ID: ENSG00000172893

Description: 7-dehydrocholesterol reductase

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 4.17
    Marker Score: 74102
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 2.41
    Marker Score: 7901
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.57
    Marker Score: 1689
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 1.53
    Marker Score: 2463
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.49
    Marker Score: 2605
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.14
    Marker Score: 2169
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 1.13
    Marker Score: 7334
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 1.11
    Marker Score: 1565
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.07
    Marker Score: 16723
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251744
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 1.02
    Marker Score: 2772
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71763
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47987
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30402
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.98
    Marker Score: 9864
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2406
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.94
    Marker Score: 487
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 441
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5283
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2720
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.9
    Marker Score: 2118
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 0.88
    Marker Score: 738
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.88
    Marker Score: 5231.5
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5295
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.87
    Marker Score: 928
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 310
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.85
    Marker Score: 5438
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.84
    Marker Score: 506
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1268
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.78
    Marker Score: 1117
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.77
    Marker Score: 379
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.77
    Marker Score: 247
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.76
    Marker Score: 583
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.74
    Marker Score: 25771
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.74
    Marker Score: 1543
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.74
    Marker Score: 406
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.74
    Marker Score: 1172
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.73
    Marker Score: 211
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.73
    Marker Score: 378
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.72
    Marker Score: 484
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.72
    Marker Score: 290
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.72
    Marker Score: 1057
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.71
    Marker Score: 457
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.71
    Marker Score: 223
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.7
    Marker Score: 1277
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 0.7
    Marker Score: 2194
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.7
    Marker Score: 1187
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.68
    Marker Score: 2858
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.68
    Marker Score: 620
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.66
    Marker Score: 170
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.66
    Marker Score: 5666
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.65
    Marker Score: 262
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.64
    Marker Score: 424
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.63
    Marker Score: 2420
  • Cell Name: pulmonary ionocyte (CL0017000)
    Fold Change: 0.62
    Marker Score: 383
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.62
    Marker Score: 1102
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 0.62
    Marker Score: 199
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.6
    Marker Score: 410
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.6
    Marker Score: 420
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.59
    Marker Score: 2547
  • Cell Name: mammary gland epithelial cell (CL0002327)
    Fold Change: 0.59
    Marker Score: 209
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.59
    Marker Score: 708
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.58
    Marker Score: 137
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.57
    Marker Score: 542
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.57
    Marker Score: 1370
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.57
    Marker Score: 272
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.56
    Marker Score: 634
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.56
    Marker Score: 1327
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 0.56
    Marker Score: 4357
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.56
    Marker Score: 2063
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.56
    Marker Score: 187
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 0.55
    Marker Score: 494
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.55
    Marker Score: 688
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 0.55
    Marker Score: 2117
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.54
    Marker Score: 430
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.52
    Marker Score: 101
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.51
    Marker Score: 511
  • Cell Name: club cell (CL0000158)
    Fold Change: 0.51
    Marker Score: 596
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.49
    Marker Score: 204
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.48
    Marker Score: 122
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.48
    Marker Score: 466
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.47
    Marker Score: 1932
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.47
    Marker Score: 1069
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.45
    Marker Score: 753
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.45
    Marker Score: 642
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.45
    Marker Score: 1771
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.45
    Marker Score: 1050
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.45
    Marker Score: 1194
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.44
    Marker Score: 110
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.44
    Marker Score: 2108
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.44
    Marker Score: 1107
  • Cell Name: activated CD4-positive, alpha-beta T cell (CL0000896)
    Fold Change: 0.44
    Marker Score: 317
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.44
    Marker Score: 4511
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.43
    Marker Score: 2822
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.43
    Marker Score: 130
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 0.43
    Marker Score: 2740
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.43
    Marker Score: 404
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.42
    Marker Score: 6818
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.42
    Marker Score: 203
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.42
    Marker Score: 287

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Other Information

**Key characteristics:** - DHCR7 is a protein that is involved in the cholesterol biosynthetic process. - It is a transmembrane protein that is expressed in the endoplasmic reticulum (ER). - DHCR7 is a key enzyme in the cholesterol biosynthetic pathway. **Pathways and functions:** - DHCR7 is involved in the regulation of cholesterol biosynthesis by the steroid hormone Srebp. - It is also involved in the regulation of the desmosterol/lathosterol pathway of cholesterol biosynthesis. - DHCR7 is a key enzyme in the production of cholesterol from cholesterol precursors. - It is also involved in the production of desmosterol and lathosterol, which are precursors to cholesterol. **Clinical significance:** - Mutations in DHCR7 have been linked to several human diseases, including hypercholesterolemia, which is a condition in which the blood contains too much cholesterol. - DHCR7 inhibitors are being investigated as a treatment for hypercholesterolemia.

Genular Protein ID: 2234775403

Symbol: DHCR7_HUMAN

Name: Sterol Delta(7)-reductase

UniProtKB Accession Codes:

Q9UBM7 B2R6Z2 O60492 O60717

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CPTAC 2 CTD 1 ChEBI 18 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 DrugCentral 1 EC 1 EMBL 7 EPD 1 Ensembl 4 ExpressionAtlas 1 GO 11 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 3 RefSeq 2 Rhea 4 SABIO-RK 1 SAM 1 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 SwissLipids 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9683613

Title: Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.

PubMed ID: 9683613

DOI: 10.1086/301982

PubMed ID: 9465114

Title: Molecular cloning and expression of the human delta7-sterol reductase.

PubMed ID: 9465114

DOI: 10.1073/pnas.95.4.1899

PubMed ID: 9878250

Title: The human lamin B receptor/sterol reductase multigene family.

PubMed ID: 9878250

DOI: 10.1006/geno.1998.5615

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 9634533

Title: Mutations in the human sterol delta 7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

PubMed ID: 9634533

DOI: 10.1086/301936

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 19369195

Title: Large-scale proteomics analysis of the human kinome.

PubMed ID: 19369195

DOI: 10.1074/mcp.m800588-mcp200

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

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

PubMed ID: 32694168

Title: TMEM147 interacts with lamin B receptor, regulates its localization and levels, and affects cholesterol homeostasis.

PubMed ID: 32694168

DOI: 10.1242/jcs.245357

PubMed ID: 9653161

Title: Mutations in the delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome.

PubMed ID: 9653161

DOI: 10.1073/pnas.95.14.8181

PubMed ID: 10677299

Title: Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.

PubMed ID: 10677299

DOI: 10.1086/302760

PubMed ID: 10995508

Title: Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping.

PubMed ID: 10995508

DOI: 10.1002/1096-8628(20000918)94:3<214::aid-ajmg7>3.3.co;2-i

PubMed ID: 11427181

Title: Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith-Lemli-Opitz syndrome.

PubMed ID: 11427181

DOI: 10.1017/s0003480001008600

PubMed ID: 11175299

Title: Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.

PubMed ID: 11175299

DOI: 10.1038/sj.ejhg.5200579

PubMed ID: 12949967

Title: Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome.

PubMed ID: 12949967

DOI: 10.1002/ajmg.a.20207

PubMed ID: 15954111

Title: Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS).

PubMed ID: 15954111

DOI: 10.1002/humu.9346

PubMed ID: 25787250

Title: Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas.

PubMed ID: 25787250

DOI: 10.1073/pnas.1503696112

Sequence Information:

  • Length: 475
  • Mass: 54489
  • Checksum: 7D726443834C4EEB
  • Sequence:
    • MAAKSQPNIP KAKSLDGVTN DRTASQGQWG RAWEVDWFSL ASVIFLLLFA PFIVYYFIMA 
CDQYSCALTG PVVDIVTGHA RLSDIWAKTP PITRKAAQLY TLWVTFQVLL YTSLPDFCHK 
FLPGYVGGIQ EGAVTPAGVV NKYQINGLQA WLLTHLLWFA NAHLLSWFSP TIIFDNWIPL 
LWCANILGYA VSTFAMVKGY FFPTSARDCK FTGNFFYNYM MGIEFNPRIG KWFDFKLFFN 
GRPGIVAWTL INLSFAAKQR ELHSHVTNAM VLVNVLQAIY VIDFFWNETW YLKTIDICHD 
HFGWYLGWGD CVWLPYLYTL QGLYLVYHPV QLSTPHAVGV LLLGLVGYYI FRVANHQKDL 
FRRTDGRCLI WGRKPKVIEC SYTSADGQRH HSKLLVSGFW GVARHFNYVG DLMGSLAYCL 
ACGGGHLLPY FYIIYMAILL THRCLRDEHR CASKYGRDWE RYTAAVPYRL LPGIF

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. For the full schema, download it here.