Details for: DEGS1

Gene ID: 8560

Symbol: DEGS1

Ensembl ID: ENSG00000143753

Description: delta 4-desaturase, sphingolipid 1

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: 233.3083
    Cell Significance Index: -36.2900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 151.7485
    Cell Significance Index: -38.4900
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 90.3615
    Cell Significance Index: -36.7100
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 89.8601
    Cell Significance Index: -42.4300
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 81.6120
    Cell Significance Index: -41.9800
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 39.3614
    Cell Significance Index: -37.5800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 33.3426
    Cell Significance Index: -41.1100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 10.5751
    Cell Significance Index: -41.7300
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 8.1901
    Cell Significance Index: -21.9400
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 8.1492
    Cell Significance Index: -25.0300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 2.8208
    Cell Significance Index: 75.3200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 1.9397
    Cell Significance Index: 857.5800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.8515
    Cell Significance Index: 53.0800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 1.6611
    Cell Significance Index: 117.4800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 1.4257
    Cell Significance Index: 67.0100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.2211
    Cell Significance Index: 666.8500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.1799
    Cell Significance Index: 152.4400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.1766
    Cell Significance Index: 161.5800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.9559
    Cell Significance Index: 26.0200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.8655
    Cell Significance Index: 781.5100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.6837
    Cell Significance Index: 87.6500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.6664
    Cell Significance Index: 19.5700
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.6392
    Cell Significance Index: 38.3800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.5832
    Cell Significance Index: 63.4300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.5623
    Cell Significance Index: 66.3100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.5421
    Cell Significance Index: 63.1700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5365
    Cell Significance Index: 87.2600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.5170
    Cell Significance Index: 38.5300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.5029
    Cell Significance Index: 100.8900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.4963
    Cell Significance Index: 25.8500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.4801
    Cell Significance Index: 10.0500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.4498
    Cell Significance Index: 20.9700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.3994
    Cell Significance Index: 79.2600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.3114
    Cell Significance Index: 10.8200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.2750
    Cell Significance Index: 98.6500
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 0.2617
    Cell Significance Index: 0.5900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2460
    Cell Significance Index: 46.8100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2317
    Cell Significance Index: 5.0200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2267
    Cell Significance Index: 15.6800
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: 0.1738
    Cell Significance Index: 1.0500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1269
    Cell Significance Index: 12.5500
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.0971
    Cell Significance Index: 1.7200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0877
    Cell Significance Index: 2.4500
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0809
    Cell Significance Index: 5.2200
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.0440
    Cell Significance Index: 0.5000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0402
    Cell Significance Index: 27.8000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0121
    Cell Significance Index: 0.3500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0117
    Cell Significance Index: 21.9900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0139
    Cell Significance Index: -10.5000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0209
    Cell Significance Index: -0.3500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0216
    Cell Significance Index: -15.8600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0249
    Cell Significance Index: -46.0100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0273
    Cell Significance Index: -42.0600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0310
    Cell Significance Index: -3.1700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0356
    Cell Significance Index: -48.3900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0391
    Cell Significance Index: -24.8500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0441
    Cell Significance Index: -1.5500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0477
    Cell Significance Index: -35.3500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0515
    Cell Significance Index: -23.3600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0635
    Cell Significance Index: -7.8100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0662
    Cell Significance Index: -11.9300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0740
    Cell Significance Index: -41.7200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0793
    Cell Significance Index: -49.4900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1004
    Cell Significance Index: -28.8800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1249
    Cell Significance Index: -7.8700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1461
    Cell Significance Index: -24.9400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1594
    Cell Significance Index: -8.3700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1639
    Cell Significance Index: -9.2000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.1765
    Cell Significance Index: -8.0000
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: -0.1849
    Cell Significance Index: -0.5500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2012
    Cell Significance Index: -29.2400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2312
    Cell Significance Index: -48.7000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2588
    Cell Significance Index: -15.9100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2670
    Cell Significance Index: -7.0200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2761
    Cell Significance Index: -21.1900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2834
    Cell Significance Index: -32.4700
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2993
    Cell Significance Index: -8.0100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3096
    Cell Significance Index: -18.9800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.3320
    Cell Significance Index: -4.5300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3767
    Cell Significance Index: -39.2200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.4024
    Cell Significance Index: -8.5700
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: -0.4057
    Cell Significance Index: -3.3600
  • Cell Name: perivascular cell (CL4033054)
    Fold Change: -0.4180
    Cell Significance Index: -1.9300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.4561
    Cell Significance Index: -30.6700
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.4572
    Cell Significance Index: -3.8400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4938
    Cell Significance Index: -39.1100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.5169
    Cell Significance Index: -12.9200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.5260
    Cell Significance Index: -14.1000
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.5832
    Cell Significance Index: -6.3400
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.6219
    Cell Significance Index: -11.5000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.6429
    Cell Significance Index: -33.4000
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.7063
    Cell Significance Index: -18.1600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.7257
    Cell Significance Index: -32.1000
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.7500
    Cell Significance Index: -9.6100
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.7895
    Cell Significance Index: -20.1700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.8480
    Cell Significance Index: -32.1100
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.8982
    Cell Significance Index: -26.4600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.9494
    Cell Significance Index: -16.2700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.9514
    Cell Significance Index: -31.1500
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.9781
    Cell Significance Index: -14.7400

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:** DEGS1 is a delta 4-desaturase enzyme that catalyzes the desaturation of sphinganine to form sphingosine, a critical step in the biosynthesis of ceramides. 2. **Sphingolipid Metabolism:** DEGS1 is involved in the regulation of sphingolipid metabolism, which is essential for maintaining cellular homeostasis and immune function. 3. **Cellular Expression:** DEGS1 is expressed in various cell types, including glandular epithelial cells, fibroblasts, and immune cells, highlighting its broad tissue distribution. 4. **Pathway Involvement:** DEGS1 is implicated in multiple biological pathways, including the ceramide biosynthetic process, electron transport chain, and innate immune system. **Pathways and Functions:** 1. **Ceramide Biosynthetic Process:** DEGS1 is involved in the biosynthesis of ceramides, which are critical lipids involved in cell signaling, apoptosis, and immune function. 2. **Electron Transport Chain:** DEGS1 is also implicated in the electron transport chain, a process essential for generating energy in cells. 3. **Innate Immune System:** DEGS1 is involved in the regulation of the innate immune system, which provides the first line of defense against pathogens. 4. **Neutrophil Degranulation:** DEGS1 has been shown to regulate neutrophil degranulation, a process essential for eliminating pathogens. 5. **Sphingolipid Metabolism:** DEGS1 is involved in the regulation of sphingolipid metabolism, which is essential for maintaining cellular homeostasis. **Clinical Significance:** 1. **Neurological Disorders:** DEGS1 has been implicated in various neurological disorders, including multiple sclerosis, Parkinson's disease, and Alzheimer's disease. 2. **Inflammatory Conditions:** DEGS1 is involved in the regulation of inflammatory responses, which is essential for understanding the pathogenesis of inflammatory conditions, such as rheumatoid arthritis and Crohn's disease. 3. **Cancer:** DEGS1 has been shown to be overexpressed in various types of cancer, including breast cancer, prostate cancer, and lung cancer, highlighting its potential as a therapeutic target. 4. **Infectious Diseases:** DEGS1 is involved in the regulation of the innate immune system, which is essential for understanding the pathogenesis of infectious diseases, such as tuberculosis and sepsis. In conclusion, DEGS1 is a critical enzyme involved in sphingolipid metabolism and immune function. Its involvement in various biological pathways and its clinical significance underscore its importance as a therapeutic target for various diseases. Further research is necessary to fully elucidate the role of DEGS1 in human health and disease.

Genular Protein ID: 2459901135

Symbol: DEGS1_HUMAN

Name: Cell migration-inducing gene 15 protein

UniProtKB Accession Codes:

O15121

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 CDD 1 CTD 1 ChEBI 17 ChEMBL 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EC 1 EMBL 5 Ensembl 1 ExpressionAtlas 1 GO 14 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PIRSF 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 1 Rhea 15 SMART 1 STRING 1 SignaLink 1 SwissLipids 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9188692

Title: The product of the MLD gene is a member of the membrane fatty acid desaturase family: overexpression of MLD inhibits EGF receptor biosynthesis.

PubMed ID: 9188692

DOI: 10.1021/bi970091l

PubMed ID: 11937514

Title: Identification and characterization of a sphingolipid delta 4-desaturase family.

PubMed ID: 11937514

DOI: 10.1074/jbc.m202947200

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: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19647031

Title: N-Myristoylation targets dihydroceramide Delta4-desaturase 1 to mitochondria: partial involvement in the apoptotic effect of myristic acid.

PubMed ID: 19647031

DOI: 10.1016/j.biochi.2009.07.014

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23143414

Title: Identification of DES1 as a vitamin A isomerase in Mueller glial cells of the retina.

PubMed ID: 23143414

DOI: 10.1038/nchembio.1114

PubMed ID: 25255805

Title: Global profiling of co- and post-translationally N-myristoylated proteomes in human cells.

PubMed ID: 25255805

DOI: 10.1038/ncomms5919

PubMed ID: 30620338

Title: DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans.

PubMed ID: 30620338

DOI: 10.1172/jci124159

PubMed ID: 30620337

Title: Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.

PubMed ID: 30620337

DOI: 10.1172/jci123959

PubMed ID: 31186544

Title: DEGS1 variant causes neurological disorder.

PubMed ID: 31186544

DOI: 10.1038/s41431-019-0444-z

Sequence Information:

  • Length: 323
  • Mass: 37866
  • Checksum: 9FF2E4A0B87EA71C
  • Sequence:
    • MGSRVSREDF EWVYTDQPHA DRRREILAKY PEIKSLMKPD PNLIWIIIMM VLTQLGAFYI 
VKDLDWKWVI FGAYAFGSCI NHSMTLAIHE IAHNAAFGNC KAMWNRWFGM FANLPIGIPY 
SISFKRYHMD HHRYLGADGV DVDIPTDFEG WFFCTAFRKF IWVILQPLFY AFRPLFINPK 
PITYLEVINT VAQVTFDILI YYFLGIKSLV YMLAASLLGL GLHPISGHFI AEHYMFLKGH 
ETYSYYGPLN LLTFNVGYHN EHHDFPNIPG KSLPLVRKIA AEYYDNLPHY NSWIKVLYDF 
VMDDTISPYS RMKRHQKGEM VLE

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.