Details for: KDSR

Gene ID: 2531

Symbol: KDSR

Ensembl ID: ENSG00000119537

Description: 3-ketodihydrosphingosine reductase

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: 308.9777
    Cell Significance Index: -48.0600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 175.8374
    Cell Significance Index: -44.6000
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 106.2436
    Cell Significance Index: -50.1600
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 97.8937
    Cell Significance Index: -39.7700
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 92.8001
    Cell Significance Index: -47.7400
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 75.1615
    Cell Significance Index: -50.4400
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 41.9066
    Cell Significance Index: -40.0100
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 39.6446
    Cell Significance Index: -48.8800
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 17.5410
    Cell Significance Index: -46.9900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 12.4504
    Cell Significance Index: -49.1300
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 10.8320
    Cell Significance Index: -33.2700
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 10.5319
    Cell Significance Index: -23.0500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 2.9472
    Cell Significance Index: 80.2200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.7502
    Cell Significance Index: 50.1700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.7064
    Cell Significance Index: 1540.7500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.3754
    Cell Significance Index: 149.6100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 1.2780
    Cell Significance Index: 565.0500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 1.1128
    Cell Significance Index: 78.7000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.0601
    Cell Significance Index: 172.4100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 1.0234
    Cell Significance Index: 53.3100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.9775
    Cell Significance Index: 134.2400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.9624
    Cell Significance Index: 118.3400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.9054
    Cell Significance Index: 42.5600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.8134
    Cell Significance Index: 146.6300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.7870
    Cell Significance Index: 157.8800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.7465
    Cell Significance Index: 148.1500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.6932
    Cell Significance Index: 51.6600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.5868
    Cell Significance Index: 30.4800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.5522
    Cell Significance Index: 71.3400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.5234
    Cell Significance Index: 285.8300
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.5060
    Cell Significance Index: 9.8800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.4727
    Cell Significance Index: 10.2400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.4673
    Cell Significance Index: 59.9100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.4622
    Cell Significance Index: 165.8000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.4479
    Cell Significance Index: 279.6900
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.4460
    Cell Significance Index: 11.9100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3866
    Cell Significance Index: 11.1400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.3748
    Cell Significance Index: 23.6200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.3685
    Cell Significance Index: 17.1800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2541
    Cell Significance Index: 17.5800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2483
    Cell Significance Index: 47.2500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2388
    Cell Significance Index: 23.6200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2089
    Cell Significance Index: 144.4900
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.1771
    Cell Significance Index: 5.2000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.1640
    Cell Significance Index: 12.5900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1432
    Cell Significance Index: 6.4900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1405
    Cell Significance Index: 23.9900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.1243
    Cell Significance Index: 4.3200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0705
    Cell Significance Index: 1.9700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0698
    Cell Significance Index: 131.4000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0535
    Cell Significance Index: 3.0000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0223
    Cell Significance Index: 14.1800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0027
    Cell Significance Index: -0.0700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0038
    Cell Significance Index: -5.8000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0040
    Cell Significance Index: -0.1400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0077
    Cell Significance Index: -5.6800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0109
    Cell Significance Index: -20.0400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0219
    Cell Significance Index: -9.9400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0238
    Cell Significance Index: -32.3400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0283
    Cell Significance Index: -21.0000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0283
    Cell Significance Index: -21.4400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0315
    Cell Significance Index: -0.8400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0328
    Cell Significance Index: -2.1200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0372
    Cell Significance Index: -21.0000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0437
    Cell Significance Index: -4.4600
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0821
    Cell Significance Index: -4.1500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0948
    Cell Significance Index: -2.0200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1201
    Cell Significance Index: -25.2900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.1349
    Cell Significance Index: -1.8400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1389
    Cell Significance Index: -39.9700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1538
    Cell Significance Index: -17.6200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1608
    Cell Significance Index: -23.3700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1630
    Cell Significance Index: -10.0200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1769
    Cell Significance Index: -9.2900
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1822
    Cell Significance Index: -3.0500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.2179
    Cell Significance Index: -25.7000
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2308
    Cell Significance Index: -26.3400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2309
    Cell Significance Index: -26.9100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.3746
    Cell Significance Index: -25.1900
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.4156
    Cell Significance Index: -7.0000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.4298
    Cell Significance Index: -44.7500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.4405
    Cell Significance Index: -14.1100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.4734
    Cell Significance Index: -9.9100
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.5243
    Cell Significance Index: -6.2500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.5290
    Cell Significance Index: -41.9000
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.5373
    Cell Significance Index: -9.5000
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.5898
    Cell Significance Index: -15.1600
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.6048
    Cell Significance Index: -8.6100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.6239
    Cell Significance Index: -27.6000
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.6314
    Cell Significance Index: -10.8200
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.6666
    Cell Significance Index: -17.0300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.6739
    Cell Significance Index: -16.8500
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.7227
    Cell Significance Index: -6.6600
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.7653
    Cell Significance Index: -20.4700
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.7666
    Cell Significance Index: -17.7100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.7801
    Cell Significance Index: -29.5400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.7854
    Cell Significance Index: -48.1500
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.9228
    Cell Significance Index: -13.6200
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.9262
    Cell Significance Index: -34.0000
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.9447
    Cell Significance Index: -9.7800

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:** KDSR is a reductase enzyme responsible for the reduction of 3-ketodihydrosphingosine to 3-dehydrosphinganine, a crucial step in the sphingolipid biosynthesis pathway. This process is vital for maintaining cellular membrane structure, signaling, and immune response regulation. The expression of KDSR in various cell types suggests its broad functional roles in tissue homeostasis and immune cell function. **Pathways and Functions:** KDSR's involvement in the following pathways highlights its importance in cellular processes: 1. **Sphingolipid biosynthesis**: KDSR is essential for the reduction of 3-ketodihydrosphingosine to 3-dehydrosphinganine, a key step in the sphingolipid biosynthesis pathway. 2. **3-Dehydrosphinganine metabolic process**: KDSR's activity is crucial for the metabolism of 3-dehydrosphinganine, a sphingolipid metabolite involved in cellular signaling and immune response regulation. 3. **Endoplasmic reticulum and extracellular space**: KDSR is localized to the endoplasmic reticulum and extracellular space, suggesting its involvement in membrane structure and signaling. 4. **Protein binding**: KDSR's ability to bind proteins suggests its potential role in protein-protein interactions and signaling pathways. **Clinical Significance:** The KDSR gene's involvement in various diseases highlights its importance in human health and disease pathogenesis: 1. **Neurological disorders**: KDSR's expression in neural progenitor cells and GABAergic neurons suggests its potential role in neurological disorders, such as Alzheimer's disease and Parkinson's disease. 2. **Cancer**: KDSR's expression in fibroblasts from mammary and breast tissues implies its involvement in cancer progression and metastasis. 3. **Inflammatory diseases**: KDSR's role in sphingolipid metabolism and immune response regulation suggests its potential involvement in inflammatory diseases, such as rheumatoid arthritis and asthma. 4. **Skeletal muscle disorders**: KDSR's expression in skeletal muscle satellite stem cells highlights its potential role in muscle regeneration and disorders, such as muscular dystrophy. In conclusion, the 3-ketodihydrosphingosine reductase (KDSR) gene plays a critical role in sphingolipid metabolism, immune regulation, and tissue homeostasis. Further research is necessary to elucidate the functional mechanisms and clinical significance of KDSR in human diseases.

Genular Protein ID: 3185948808

Symbol: KDSR_HUMAN

Name: 3-ketodihydrosphingosine reductase

UniProtKB Accession Codes:

Q06136 B2R5Y1 B4DMX0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 14 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 8 Ensembl 2 ExpressionAtlas 1 GO 8 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 2 PRO 1 PROSITE 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 1 RefSeq 1 Rhea 2 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8417785

Title: FVT-1, a novel human transcription unit affected by variant translocation t(2;18)(p11;q21) of follicular lymphoma.

PubMed ID: 8417785

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16177791

Title: DNA sequence and analysis of human chromosome 18.

PubMed ID: 16177791

DOI: 10.1038/nature03983

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: 15328338

Title: FVT-1 is a mammalian 3-ketodihydrosphingosine reductase with an active site that faces the cytosolic side of the endoplasmic reticulum membrane.

PubMed ID: 15328338

DOI: 10.1074/jbc.m405915200

PubMed ID: 29799648

Title: The PERIOPTER syndrome (periorificial and ptychotropic erythrokeratoderma): a new Mendelian disorder of cornification.

PubMed ID: 29799648

DOI: 10.1111/jdv.15089

PubMed ID: 34373586

Title: 3-Ketodihydrosphingosine reductase maintains ER homeostasis and unfolded protein response in leukemia.

PubMed ID: 34373586

DOI: 10.1038/s41375-021-01378-z

PubMed ID: 28575652

Title: Mutations in KDSR cause recessive progressive symmetric erythrokeratoderma.

PubMed ID: 28575652

DOI: 10.1016/j.ajhg.2017.05.003

PubMed ID: 36170811

Title: De novo sphingolipid biosynthesis necessitates detoxification in cancer cells.

PubMed ID: 36170811

DOI: 10.1016/j.celrep.2022.111415

PubMed ID: 19141869

Title: Tsc10p and FVT1: topologically distinct short-chain reductases required for long-chain base synthesis in yeast and mammals.

PubMed ID: 19141869

DOI: 10.1194/jlr.m800580-jlr200

PubMed ID: 28774589

Title: Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia.

PubMed ID: 28774589

DOI: 10.1016/j.jid.2017.06.028

PubMed ID: 30467204

Title: Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia.

PubMed ID: 30467204

DOI: 10.3324/haematol.2018.204784

PubMed ID: 31987885

Title: Palmoplantar Keratoderma with Leukokeratosis Anogenitalis Caused by KDSR Mutations.

PubMed ID: 31987885

DOI: 10.1016/j.jid.2019.11.029

PubMed ID: 34277909

Title: Progressive symmetrical erythrokeratoderma manifesting as harlequin-like ichthyosis with severe thrombocytopenia secondary to a homozygous 3-ketodihydrosphingosine reductase mutation.

PubMed ID: 34277909

DOI: 10.1016/j.jdcr.2021.06.006

PubMed ID: 35958175

Title: Case report: Compound heterozygous mutations in the KDSR gene cause progressive keratodermia and thrombocytopenia.

PubMed ID: 35958175

DOI: 10.3389/fped.2022.940618

PubMed ID: 34686882

Title: Formation of keto-type ceramides in palmoplantar keratoderma based on biallelic KDSR mutations in patients.

PubMed ID: 34686882

DOI: 10.1093/hmg/ddab309

PubMed ID: 36546314

Title: Refractory thrombocytopenia and myelofibrosis in a novel KDSR mutation: Case report and literature review.

PubMed ID: 36546314

DOI: 10.1002/pbc.30157

PubMed ID: 36263748

Title: Variable skin findings in two siblings with KDSR mutations manifesting in PERIOPTER syndrome.

PubMed ID: 36263748

DOI: 10.1111/pde.15155

Sequence Information:

  • Length: 332
  • Mass: 36187
  • Checksum: CB4BA5D020858F0C
  • Sequence:
    • MLLLAAAFLV AFVLLLYMVS PLISPKPLAL PGAHVVVTGG SSGIGKCIAI ECYKQGAFIT 
LVARNEDKLL QAKKEIEMHS INDKQVVLCI SVDVSQDYNQ VENVIKQAQE KLGPVDMLVN 
CAGMAVSGKF EDLEVSTFER LMSINYLGSV YPSRAVITTM KERRVGRIVF VSSQAGQLGL 
FGFTAYSASK FAIRGLAEAL QMEVKPYNVY ITVAYPPDTD TPGFAEENRT KPLETRLISE 
TTSVCKPEQV AKQIVKDAIQ GNFNSSLGSD GYMLSALTCG MAPVTSITEG LQQVVTMGLF 
RTIALFYLGS FDSIVRRCMM QREKSENADK TA

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.