Details for: KDSR

Gene ID: 2531

Symbol: KDSR

Ensembl ID: ENSG00000119537

Description: 3-ketodihydrosphingosine 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: neural progenitor cell (CL0011020)
    Fold Change: 2.51
    Marker Score: 9729
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 2.45
    Marker Score: 2620
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 2.18
    Marker Score: 74060.5
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 1.99
    Marker Score: 1133
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 1.98
    Marker Score: 8246
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 1.87
    Marker Score: 430
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 1.84
    Marker Score: 9041
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.8
    Marker Score: 1895
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.73
    Marker Score: 4223
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.53
    Marker Score: 2248
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 1.52
    Marker Score: 514
  • Cell Name: basal cell (CL0000646)
    Fold Change: 1.51
    Marker Score: 1952
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 1.35
    Marker Score: 852
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 1.34
    Marker Score: 2671
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: 1.34
    Marker Score: 556
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.33
    Marker Score: 5147
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 1.32
    Marker Score: 1548
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.32
    Marker Score: 1366
  • Cell Name: fibroblast of connective tissue of prostate (CL1000299)
    Fold Change: 1.31
    Marker Score: 326
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 1.3
    Marker Score: 1027
  • Cell Name: prostate stromal cell (CL0002622)
    Fold Change: 1.3
    Marker Score: 326
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.29
    Marker Score: 2294
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 1.29
    Marker Score: 2122
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.27
    Marker Score: 1405
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 1.25
    Marker Score: 10980
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.24
    Marker Score: 2823
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 1.24
    Marker Score: 3240
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.23
    Marker Score: 12340
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.22
    Marker Score: 4775
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 1.21
    Marker Score: 292
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 1.18
    Marker Score: 1160
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 1.18
    Marker Score: 8766
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.17
    Marker Score: 12042
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.16
    Marker Score: 1067.5
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 1.15
    Marker Score: 283
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.14
    Marker Score: 12869
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.14
    Marker Score: 3056
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1.14
    Marker Score: 1209
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 1.14
    Marker Score: 775
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 1.14
    Marker Score: 328
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.11
    Marker Score: 10475
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.11
    Marker Score: 7114
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.11
    Marker Score: 1943
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 1.11
    Marker Score: 7221.5
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.11
    Marker Score: 1194
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.1
    Marker Score: 4091
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 1.1
    Marker Score: 938
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.09
    Marker Score: 1107
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.08
    Marker Score: 66702.5
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.08
    Marker Score: 9289
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.08
    Marker Score: 41000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.08
    Marker Score: 10234
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 1.07
    Marker Score: 2559
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 1.07
    Marker Score: 27345
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.05
    Marker Score: 314
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 1.05
    Marker Score: 2867
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.03
    Marker Score: 4214
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 1.02
    Marker Score: 611
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 1.02
    Marker Score: 475
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 1.02
    Marker Score: 305
  • Cell Name: bronchus fibroblast of lung (CL2000093)
    Fold Change: 1.01
    Marker Score: 1393
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 1.01
    Marker Score: 688
  • Cell Name: DN3 thymocyte (CL0000807)
    Fold Change: 1.01
    Marker Score: 503
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1
    Marker Score: 15695
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1
    Marker Score: 1146
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71614
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 0.99
    Marker Score: 47838.5
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.99
    Marker Score: 4279
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 0.99
    Marker Score: 880
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.98
    Marker Score: 4069.5
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30374
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 0.97
    Marker Score: 6338
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.97
    Marker Score: 33646
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.97
    Marker Score: 3750
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.97
    Marker Score: 1495
  • Cell Name: CD4-positive helper T cell (CL0000492)
    Fold Change: 0.97
    Marker Score: 1051
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 0.96
    Marker Score: 1183
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.96
    Marker Score: 858
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.96
    Marker Score: 557
  • Cell Name: stromal cell of lamina propria of small intestine (CL0009022)
    Fold Change: 0.96
    Marker Score: 215
  • Cell Name: type I NK T cell (CL0000921)
    Fold Change: 0.96
    Marker Score: 750
  • Cell Name: reticular cell (CL0000432)
    Fold Change: 0.95
    Marker Score: 346
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.95
    Marker Score: 7248.5
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 0.94
    Marker Score: 1774
  • Cell Name: NKp44-negative group 3 innate lymphoid cell, human (CL0001080)
    Fold Change: 0.94
    Marker Score: 207
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2386
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 0.94
    Marker Score: 940
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.94
    Marker Score: 1552
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.93
    Marker Score: 223
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.93
    Marker Score: 3901.5
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.93
    Marker Score: 698
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.93
    Marker Score: 34293
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 477.5
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.93
    Marker Score: 2200
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.93
    Marker Score: 826
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.92
    Marker Score: 1564
  • Cell Name: type I pneumocyte (CL0002062)
    Fold Change: 0.92
    Marker Score: 1112
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.92
    Marker Score: 436
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.92
    Marker Score: 1035
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.92
    Marker Score: 2319

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Other Information

**Key characteristics:** - The KDSR protein is a protein of the CYP superfamily, which are involved in the metabolism of various molecules, including cholesterol, bile acids, and drugs. - It is a transmembrane protein with one extracellular domain and one cytoplasmic domain. - The extracellular domain is responsible for binding to its substrate, 3-ketosphingosine. - The cytoplasmic domain is responsible for reducing 3-ketosphingosine to 3-dehydrosphingosine. **Pathways and functions:** - The KDSR gene is involved in the 3-keto-sphinganine metabolic process, which is responsible for the synthesis and degradation of sphingolipids. - Sphingolipids are important components of cell membranes, where they play a role in various cellular processes, including signal transduction, membrane trafficking, and cell signaling. - The KDSR protein is involved in the regulation of sphingolipid metabolism by reducing 3-ketosphingosine to 3-dehydrosphingosine. - This reduction is essential for the synthesis of various sphingolipids, including sphingomyelin, which is a major component of nerve sheaths. **Clinical significance:** - Mutations in the KDSR gene have been linked to several human diseases, including neurodegenerative disorders such as Alzheimer's disease and Parkinson's disease. - These diseases are characterized by the accumulation of amyloid plaques and tau tangles in the brain, which are believed to be responsible for the disease's progression. - Studies of KDSR mutations have led to the development of new therapeutic strategies for these diseases, including the development of drugs that target the KDSR protein.

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 6 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 2 EMBL 8 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 7 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 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 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 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 1 RefSeq 1 Rhea 1 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: 28575652

Title: Mutations in KDSR cause recessive progressive symmetric erythrokeratoderma.

PubMed ID: 28575652

DOI: 10.1016/j.ajhg.2017.05.003

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. For the full schema, download it here.