Details for: KDSR
Gene ID: 2531
Gene Type: Protein-coding - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.
Symbol: KDSR
Ensembl ID: ENSG00000119537
Description: 3-ketodihydrosphingosine reductase
Selected Context(s): Overall
Cell Significance Landscape
Associated with
Significant Cells
Cell Significance Index (CSI) scores for the chosen context(s)
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CSI 15.9rCSI 38.22%PRS 54.16
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CSI 14.92rCSI 22.78%PRS 44.67
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CSI 14.32rCSI 15.34%PRS 42.02
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CSI 13.89rCSI 22.06%PRS 54.57
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CSI 12.9rCSI 18.25%PRS 52.85
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CSI 9.5rCSI 21.31%PRS 29.61
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CSI 8.25rCSI 9.97%PRS 51.66
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CSI 7.48rCSI 10.24%PRS 40.54
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CSI 6.51rCSI 23.56%PRS 63.05
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CSI 6.21rCSI 17.76%PRS 60.92
-
CSI 6.15rCSI 5.15%PRS 48.97
-
CSI 5.63rCSI 6.75%PRS 42.16
-
CSI 5.51rCSI 8.93%PRS 42.56
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CSI 5.51rCSI 3.66%PRS 47.79
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CSI 5.44rCSI 10.28%PRS 67.07
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CSI 5.43rCSI 9.76%PRS 37.68
-
CSI 4.82rCSI 11.43%PRS 49.84
-
CSI 4.58rCSI 4.02%PRS 48.9
-
CSI 4.08rCSI 25.49%PRS 36.81
-
CSI 4.05rCSI 9.26%PRS 43.4
-
CSI 3.74rCSI 4.46%PRS 28.91
-
CSI 3.68rCSI 9.11%PRS 42.08
-
CSI 3.63rCSI 2.88%PRS 65.99
-
CSI 3.6rCSI 10.33%PRS 61.44
-
CSI 3.55rCSI 2.88%PRS 44.78
-
CSI 3.55rCSI 7.85%PRS 41.37
-
CSI 3.53rCSI 13.23%PRS 37.39
-
CSI 3.23rCSI 3.32%PRS 61.59
-
CSI 3.14rCSI 18.25%PRS 55.01
-
CSI 3.09rCSI 4.23%PRS 48.88
-
CSI 3.09rCSI 7.99%PRS 40.36
-
CSI 3.09rCSI 2.74%PRS 43.11
-
CSI 2.89rCSI 6.78%PRS 53.13
-
CSI 2.85rCSI 2.8%PRS 46.29
-
CSI 2.84rCSI 5.08%PRS 42.41
-
CSI 2.78rCSI 2.23%PRS 65.39
-
CSI 2.78rCSI 13.04%PRS 69.59
-
CSI 2.75rCSI 3.35%PRS 51.57
-
CSI 2.7rCSI 6.17%PRS 37.73
-
CSI 2.65rCSI 11.67%PRS 37.81
-
CSI 2.64rCSI 1.95%PRS 37.88
-
CSI 2.63rCSI 3.85%PRS 46.98
-
CSI 2.58rCSI 6.17%PRS 54.57
-
CSI 2.56rCSI 3.63%PRS 41.1
-
CSI 2.55rCSI 3.91%PRS 46.25
-
CSI 2.47rCSI 7.74%PRS 32.34
-
CSI 2.47rCSI 5.62%PRS 42.7
-
CSI 2.46rCSI 2.27%PRS 44.95
-
CSI 2.42rCSI 3.69%PRS 53
-
CSI 2.4rCSI 3.08%PRS 42.11
-
CSI 2.35rCSI 1.82%PRS 44.46
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CSI 2.29rCSI 1.9%PRS 44.97
-
CSI 2.22rCSI 1.92%PRS 52.47
-
CSI 2.21rCSI 1.83%PRS 42.52
-
CSI 2.2rCSI 2.82%PRS 48.74
-
CSI 2.17rCSI 1.51%PRS 56.67
-
CSI 2.16rCSI 2.12%PRS 59.19
-
CSI 2.15rCSI 2.99%PRS 43.52
-
CSI 2.15rCSI 4.47%PRS 41.93
-
CSI 2.15rCSI 1.5%PRS 45.71
-
CSI 2.13rCSI 2.22%PRS 44.69
-
CSI 2.13rCSI 3.39%PRS 38.12
-
CSI 2.11rCSI 1.52%PRS 56.77
-
CSI 2.11rCSI 3.65%PRS 35.09
-
CSI 2.11rCSI 2.65%PRS 53.59
-
CSI 2.07rCSI 4.97%PRS 61.83
-
CSI 2rCSI 2.55%PRS 49.24
-
CSI 1.99rCSI 4%PRS 34.3
-
CSI 1.9rCSI 2.9%PRS 40.8
-
CSI 1.87rCSI 1.74%PRS 43.83
-
CSI 1.86rCSI 2.58%PRS 48.99
-
CSI 1.86rCSI 1.41%PRS 56.17
-
CSI 1.86rCSI 1.85%PRS 38.46
-
CSI 1.83rCSI 2.45%PRS 52.37
-
CSI 1.78rCSI 1.72%PRS 35.04
-
CSI 1.78rCSI 5.95%PRS 32.96
-
CSI 1.77rCSI 8.47%PRS 42.49
-
CSI 1.76rCSI 9.27%PRS 52.54
-
CSI 1.76rCSI 3.36%PRS 60.59
-
CSI 1.76rCSI 2.21%PRS 57.45
-
CSI 1.76rCSI 1.59%PRS 40.74
-
CSI 1.75rCSI 1.92%PRS 47.83
-
CSI 1.71rCSI 2.93%PRS 64.8
-
CSI 1.67rCSI 3.99%PRS 46.31
-
CSI 1.67rCSI 1.54%PRS 64.07
-
CSI 1.67rCSI 1.47%PRS 33.58
-
CSI 1.65rCSI 2.04%PRS 40.05
-
CSI 1.63rCSI 2.35%PRS 57.47
-
CSI 1.62rCSI 2.47%PRS 61.15
-
CSI 1.62rCSI 4.68%PRS 61.66
-
CSI 1.62rCSI 2.58%PRS 47.73
-
CSI 1.61rCSI 1.3%PRS 44.61
-
CSI 1.57rCSI 0.92%PRS 58.87
-
CSI 1.56rCSI 3.97%PRS 40.08
-
CSI 1.56rCSI 4.6%PRS 48.02
-
CSI 1.55rCSI 1.42%PRS 51.35
-
CSI 1.54rCSI 3.39%PRS 58.53
-
CSI 1.53rCSI 2.52%PRS 49.51
-
CSI 1.52rCSI 3.08%PRS 27.18
-
CSI 1.52rCSI 2.54%PRS 28.94
-
CSI 0.2rCSI 5.1%PRS 66.8%
-
CSI 0.3rCSI 1.0%PRS 27.9%
-
CSI 0.3rCSI 1.4%PRS 60.5%
-
CSI 0.4rCSI 4.0%PRS 64.5%
-
CSI 0.4rCSI 2.9%PRS 64.3%
-
CSI 0.4rCSI 0.7%PRS 35.1%
-
CSI 0.5rCSI 2.4%PRS 67.8%
-
CSI 0.5rCSI 1.9%PRS 29.9%
-
CSI 0.5rCSI 1.5%PRS 46.5%
-
CSI 0.5rCSI 1.1%PRS 61.8%
-
CSI 0.6rCSI 1.8%PRS 30.1%
-
CSI 0.6rCSI 3.5%PRS 30.3%
-
CSI 0.6rCSI 1.3%PRS 32.9%
-
CSI 0.6rCSI 2.1%PRS 46.1%
-
CSI 0.7rCSI 0.9%PRS 35.7%
-
CSI 0.7rCSI 11.9%PRS 77.7%
-
CSI 0.7rCSI 1.9%PRS 52.8%
-
CSI 0.7rCSI 2.1%PRS 35.8%
-
CSI 0.7rCSI 1.0%PRS 37.7%
-
CSI 0.7rCSI 1.4%PRS 46.0%
-
CSI 0.8rCSI 3.4%PRS 42.8%
-
CSI 0.9rCSI 3.0%PRS 59.5%
-
CSI 0.9rCSI 1.4%PRS 31.0%
-
CSI 0.9rCSI 4.1%PRS 67.1%
-
CSI 0.9rCSI 2.3%PRS 28.1%
-
CSI 0.9rCSI 1.8%PRS 34.2%
-
CSI 1.0rCSI 1.4%PRS 55.1%
-
CSI 1.0rCSI 4.1%PRS 65.7%
-
CSI 1.0rCSI 5.4%PRS 59.3%
-
CSI 1.0rCSI 2.3%PRS 69.0%
-
CSI 1.0rCSI 1.4%PRS 46.6%
-
CSI 1.0rCSI 4.0%PRS 52.9%
-
CSI 1.0rCSI 1.2%PRS 34.5%
-
CSI 1.0rCSI 2.3%PRS 50.5%
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CSI 1.1rCSI 1.6%PRS 42.0%
-
CSI 1.1rCSI 1.0%PRS 44.6%
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CSI 1.1rCSI 1.7%PRS 37.4%
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CSI 1.1rCSI 2.8%PRS 35.0%
-
CSI 1.1rCSI 1.5%PRS 53.9%
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CSI 1.1rCSI 1.4%PRS 29.8%
-
CSI 1.1rCSI 3.6%PRS 41.0%
-
CSI 1.1rCSI 5.6%PRS 55.7%
-
CSI 1.1rCSI 1.5%PRS 48.7%
-
CSI 1.2rCSI 2.0%PRS 42.5%
-
CSI 1.2rCSI 2.8%PRS 59.8%
-
CSI 1.2rCSI 1.7%PRS 43.6%
-
CSI 1.2rCSI 1.2%PRS 43.6%
-
CSI 1.2rCSI 3.4%PRS 61.7%
-
CSI 1.2rCSI 2.2%PRS 70.5%
-
CSI 1.2rCSI 2.8%PRS 36.2%
-
CSI 1.2rCSI 1.5%PRS 46.7%
-
CSI 1.2rCSI 3.4%PRS 59.4%
-
CSI 1.2rCSI 1.5%PRS 27.5%
-
CSI 1.3rCSI 1.9%PRS 46.0%
-
CSI 1.3rCSI 1.5%PRS 47.7%
-
CSI 1.3rCSI 1.5%PRS 38.6%
-
CSI 1.3rCSI 2.4%PRS 77.7%
-
CSI 1.3rCSI 1.9%PRS 61.5%
-
CSI 1.3rCSI 2.1%PRS 35.1%
-
CSI 1.3rCSI 1.8%PRS 46.6%
-
CSI 1.3rCSI 2.7%PRS 50.4%
-
CSI 1.3rCSI 2.3%PRS 36.6%
-
CSI 1.3rCSI 1.0%PRS 47.4%
-
CSI 1.3rCSI 4.3%PRS 46.8%
-
CSI 1.4rCSI 2.1%PRS 45.0%
-
CSI 1.4rCSI 1.4%PRS 49.8%
-
CSI 1.4rCSI 2.0%PRS 49.0%
-
CSI 1.4rCSI 1.3%PRS 45.0%
-
CSI 1.4rCSI 9.4%PRS 62.2%
-
CSI 1.4rCSI 14.9%PRS 60.3%
-
CSI 1.4rCSI 3.5%PRS 52.2%
-
CSI 1.4rCSI 0.9%PRS 54.1%
-
CSI 1.4rCSI 1.5%PRS 41.4%
-
CSI 1.4rCSI 4.0%PRS 44.1%
-
CSI 1.4rCSI 3.4%PRS 33.9%
-
CSI 1.4rCSI 2.1%PRS 40.2%
-
CSI 1.5rCSI 3.8%PRS 51.5%
-
CSI 1.5rCSI 1.2%PRS 32.3%
-
CSI 1.5rCSI 2.7%PRS 60.3%
-
CSI 1.5rCSI 2.0%PRS 45.6%
-
CSI 1.5rCSI 2.6%PRS 59.5%
-
CSI 1.5rCSI 2.6%PRS 28.0%
-
CSI 1.5rCSI 4.0%PRS 66.6%
-
CSI 1.5rCSI 2.5%PRS 28.9%
-
CSI 1.5rCSI 3.1%PRS 27.2%
-
CSI 1.5rCSI 2.5%PRS 49.5%
-
CSI 1.5rCSI 3.4%PRS 58.5%
-
CSI 1.6rCSI 1.4%PRS 51.4%
-
CSI 1.6rCSI 4.6%PRS 48.0%
-
CSI 1.6rCSI 4.0%PRS 40.1%
-
CSI 1.6rCSI 0.9%PRS 58.9%
-
CSI 1.6rCSI 1.3%PRS 44.6%
-
CSI 1.6rCSI 2.6%PRS 47.7%
-
CSI 1.6rCSI 4.7%PRS 61.7%
-
CSI 1.6rCSI 2.5%PRS 61.2%
-
CSI 1.6rCSI 2.4%PRS 57.5%
-
CSI 1.7rCSI 2.0%PRS 40.1%
-
CSI 1.7rCSI 1.5%PRS 33.6%
-
CSI 1.7rCSI 1.5%PRS 64.1%
-
CSI 1.7rCSI 4.0%PRS 46.3%
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.
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.
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.
Network Configuration
Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.
Legend:
- Query Gene
-
Node Color (Target Cell CSI, relative to current network):
- Very High
- High
- Medium
- Low
- Very Low
- CSI N/A
- Node Size: Proportional to Target Cell CSI magnitude
- STRING PPI Edge
- Shared Pathway Edge (ONTOLOGY)
Other Information
This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.
Genular Protein ID: 3185948808
Symbol: KDSR_HUMAN
Name: 3-ketodihydrosphingosine reductase
UniProtKB Accession Codes:
Database IDs:
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
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
PubMed ID: 28575652
Title: Mutations in KDSR cause recessive progressive symmetric erythrokeratoderma.
PubMed ID: 28575652
PubMed ID: 36170811
Title: De novo sphingolipid biosynthesis necessitates detoxification in cancer cells.
PubMed ID: 36170811
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
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
PubMed ID: 30467204
Title: Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia.
PubMed ID: 30467204
PubMed ID: 31987885
Title: Palmoplantar Keratoderma with Leukokeratosis Anogenitalis Caused by KDSR Mutations.
PubMed ID: 31987885
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
PubMed ID: 35958175
Title: Case report: Compound heterozygous mutations in the KDSR gene cause progressive keratodermia and thrombocytopenia.
PubMed ID: 35958175
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