Details for: SC5D

Gene ID: 6309

Symbol: SC5D

Ensembl ID: ENSG00000109929

Description: sterol-C5-desaturase

Associated with

Cells (max top 100)

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

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 195.4415
    Cell Significance Index: -30.4000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 118.0003
    Cell Significance Index: -29.9300
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 67.4083
    Cell Significance Index: -31.8300
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 63.9402
    Cell Significance Index: -26.3400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 25.8322
    Cell Significance Index: -31.8500
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 11.4750
    Cell Significance Index: -30.7400
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 9.3181
    Cell Significance Index: -28.6200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 8.1727
    Cell Significance Index: -32.2500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 2.8220
    Cell Significance Index: 75.6200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 1.7891
    Cell Significance Index: 16.4800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.7101
    Cell Significance Index: 308.2800
  • Cell Name: DN3 thymocyte (CL0000807)
    Fold Change: 1.2985
    Cell Significance Index: 13.0200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.2716
    Cell Significance Index: 156.3600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.1066
    Cell Significance Index: 58.1000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.0597
    Cell Significance Index: 212.5700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.0374
    Cell Significance Index: 102.6200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.0300
    Cell Significance Index: 28.0400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.9361
    Cell Significance Index: 48.6300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.8795
    Cell Significance Index: 18.7300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.8337
    Cell Significance Index: 50.0500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6878
    Cell Significance Index: 621.0200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6875
    Cell Significance Index: 74.7800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.6640
    Cell Significance Index: 49.4900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.5933
    Cell Significance Index: 117.7500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.5526
    Cell Significance Index: 198.2200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4271
    Cell Significance Index: 69.4700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.3669
    Cell Significance Index: 200.3700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.2179
    Cell Significance Index: 10.2400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1937
    Cell Significance Index: 85.6300
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1893
    Cell Significance Index: 130.9000
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.1842
    Cell Significance Index: 2.2900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1604
    Cell Significance Index: 4.6200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1565
    Cell Significance Index: 3.3900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1439
    Cell Significance Index: 6.7100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1109
    Cell Significance Index: 14.2200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.1078
    Cell Significance Index: 7.2500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0991
    Cell Significance Index: 18.8500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0959
    Cell Significance Index: 6.6300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0923
    Cell Significance Index: 12.6800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0852
    Cell Significance Index: 4.7800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0803
    Cell Significance Index: 3.6400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0645
    Cell Significance Index: 4.0700
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.0603
    Cell Significance Index: 1.7200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0291
    Cell Significance Index: 18.4600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0282
    Cell Significance Index: 3.6500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0193
    Cell Significance Index: 36.2800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0190
    Cell Significance Index: 14.3800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0021
    Cell Significance Index: -0.2500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0048
    Cell Significance Index: -8.9000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0048
    Cell Significance Index: -7.3200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0128
    Cell Significance Index: -0.4500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0139
    Cell Significance Index: -0.3700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0150
    Cell Significance Index: -11.0200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0151
    Cell Significance Index: -0.9300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0175
    Cell Significance Index: -23.8000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0246
    Cell Significance Index: -18.1900
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.0271
    Cell Significance Index: -0.4400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0476
    Cell Significance Index: -21.5900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0496
    Cell Significance Index: -27.9900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0564
    Cell Significance Index: -35.2300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0665
    Cell Significance Index: -11.3600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0688
    Cell Significance Index: -7.0300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0789
    Cell Significance Index: -22.6900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0852
    Cell Significance Index: -9.9300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0880
    Cell Significance Index: -2.4600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1036
    Cell Significance Index: -3.6000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1100
    Cell Significance Index: -7.7800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1286
    Cell Significance Index: -18.6900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1556
    Cell Significance Index: -32.7800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1809
    Cell Significance Index: -20.7300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2038
    Cell Significance Index: -3.4100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2114
    Cell Significance Index: -13.6400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2350
    Cell Significance Index: -18.0300
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.2686
    Cell Significance Index: -2.7800
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: -0.2949
    Cell Significance Index: -1.8200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2989
    Cell Significance Index: -31.1200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.3008
    Cell Significance Index: -13.3100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.3306
    Cell Significance Index: -6.9200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3485
    Cell Significance Index: -27.6100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.3735
    Cell Significance Index: -10.9700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3762
    Cell Significance Index: -12.0500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.3919
    Cell Significance Index: -14.8400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.4024
    Cell Significance Index: -10.5800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.4114
    Cell Significance Index: -7.0500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4156
    Cell Significance Index: -25.4800
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.4216
    Cell Significance Index: -9.7400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.4938
    Cell Significance Index: -11.8400
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.5501
    Cell Significance Index: -6.8600
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.5511
    Cell Significance Index: -6.5700
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.5615
    Cell Significance Index: -7.8700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.5636
    Cell Significance Index: -17.9500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.5990
    Cell Significance Index: -19.6100
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: -0.6089
    Cell Significance Index: -6.4700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.6126
    Cell Significance Index: -17.5600
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.6195
    Cell Significance Index: -8.6900
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.6243
    Cell Significance Index: -16.7000
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.6260
    Cell Significance Index: -22.9800
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.6582
    Cell Significance Index: -13.9700
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.6631
    Cell Significance Index: -11.1700
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.6797
    Cell Significance Index: -23.8100

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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: 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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: 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. **Enzymatic Activity:** SC5D is a desaturase enzyme that catalyzes the conversion of C5- sterols (e.g., desmosterol and lathosterol) into C6- sterols (e.g., ergosterol and cholesterol). This reaction is a crucial step in the biosynthesis of cholesterol. 2. **Regulation by SREBP:** SC5D is activated by SREBP, a transcription factor that regulates cholesterol biosynthesis. SREBP binding to SC5D enhances its enzymatic activity, thereby promoting cholesterol production. 3. **Expression in Various Cell Types:** SC5D is expressed in a wide range of cell types, including DN3 thymocytes, keratinocytes, pulmonary interstitial fibroblasts, and GABAergic neurons. This expression pattern suggests that SC5D plays a role in maintaining cellular homeostasis and regulating immune responses. 4. **Protein Structure:** The SC5D protein is a membrane-bound enzyme with a characteristic desaturase domain. This domain is responsible for the catalytic activity of the enzyme. **Pathways and Functions:** 1. **Cholesterol Biosynthesis:** SC5D is a key player in the biosynthesis of cholesterol, which is essential for cellular membrane structure and function. 2. **Regulation of Cholesterol Biosynthesis:** SC5D's activity is tightly regulated by SREBP, ensuring that cholesterol biosynthesis is tightly controlled in response to cellular needs. 3. **Endoplasmic Reticulum Membrane:** SC5D is embedded in the endoplasmic reticulum membrane, where it interacts with other enzymes and proteins involved in lipid metabolism. 4. **Iron Ion Binding:** SC5D has been shown to bind iron ions, which may play a role in its catalytic activity or regulation by SREBP. **Clinical Significance:** 1. **Cholesterol Metabolism Disorders:** Dysregulation of SC5D has been implicated in various cholesterol metabolism disorders, including atherosclerosis and hypercholesterolemia. 2. **Immune System Dysregulation:** SC5D's expression in immune cells suggests that dysregulation of this enzyme may contribute to immune system dysfunction, including autoimmune diseases. 3. **Neurological Disorders:** SC5D's expression in GABAergic neurons raises the possibility that dysregulation of this enzyme may contribute to neurological disorders, such as epilepsy and Alzheimer's disease. 4. **Cancer:** SC5D's expression in various cell types, including cancer cells, suggests that this enzyme may play a role in cancer development and progression. In conclusion, SC5D is a critical enzyme involved in cholesterol biosynthesis and regulation. Its dysregulation has been implicated in various diseases, including cholesterol metabolism disorders, immune system dysregulation, and neurological disorders. Further research is needed to fully understand the role of SC5D in human health and disease.

Genular Protein ID: 66775150

Symbol: SC5D_HUMAN

Name: C-5 sterol desaturase

UniProtKB Accession Codes:

O75845 O00119 Q6GTM5 Q9UK15

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEBI 22 ChEMBL 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EC 2 EMBL 10 Ensembl 2 ExpressionAtlas 1 GO 8 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRO 1 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 12 STRING 1 SignaLink 1 SwissLipids 1 SwissPalm 1 TopDownProteomics 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8976377

Title: Molecular cloning and mapping of a human cDNA(SC5DL) encoding a protein homologous to fungal sterol-C5-desaturase.

PubMed ID: 8976377

DOI: 10.1159/000134427

PubMed ID: 10344195

Title: Delta7-sterol-C5-desaturase: molecular characterization and functional expression of wild-type and mutant alleles.

PubMed ID: 10344195

DOI: 10.1023/a:1006113919172

PubMed ID: 10786622

Title: cDNA cloning of the mammalian sterol C5-desaturase and the expression in yeast mutant.

PubMed ID: 10786622

DOI: 10.1016/s0167-4781(99)00248-1

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: 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: 38297129

Title: 7-Dehydrocholesterol is an endogenous suppressor of ferroptosis.

PubMed ID: 38297129

DOI: 10.1038/s41586-023-06878-9

PubMed ID: 38297130

Title: 7-Dehydrocholesterol dictates ferroptosis sensitivity.

PubMed ID: 38297130

DOI: 10.1038/s41586-023-06983-9

PubMed ID: 12189593

Title: Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase.

PubMed ID: 12189593

DOI: 10.1086/342668

PubMed ID: 12812989

Title: Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency.

PubMed ID: 12812989

DOI: 10.1093/hmg/ddg172

Sequence Information:

  • Length: 299
  • Mass: 35301
  • Checksum: 9EF8B20D522FAA56
  • Sequence:
    • MDLVLRVADY YFFTPYVYPA TWPEDDIFRQ AISLLIVTNV GAYILYFFCA TLSYYFVFDH 
ALMKHPQFLK NQVRREIKFT VQALPWISIL TVALFLLEIR GYSKLHDDLG EFPYGLFELV 
VSIISFLFFT DMFIYWIHRG LHHRLVYKRL HKPHHIWKIP TPFASHAFHP IDGFLQSLPY 
HIYPFIFPLH KVVYLSLYIL VNIWTISIHD GDFRVPQILQ PFINGSAHHT DHHMFFDYNY 
GQYFTLWDRI GGSFKNPSSF EGKGPLSYVK EMTEGKRSSH SGNGCKNEKL FNGEFTKTE

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.