Details for: CERS1

Gene ID: 10715

Symbol: CERS1

Ensembl ID: ENSG00000223802

Description: ceramide synthase 1

Associated with

Cells (max top 100)

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

  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 2.18
    Marker Score: 2,192
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.87
    Marker Score: 1,618
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.32
    Marker Score: 5,392
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 1.14
    Marker Score: 2,722
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.04
    Marker Score: 795
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,814
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48,039
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.99
    Marker Score: 1,046
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,407
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.96
    Marker Score: 2,449
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.95
    Marker Score: 1,962
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.94
    Marker Score: 3,920
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5,349
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2,737
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,285
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1,260
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 706
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 396
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.75
    Marker Score: 930
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.75
    Marker Score: 16,014
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 177
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.56
    Marker Score: 3,701
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.51
    Marker Score: 2,376
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.49
    Marker Score: 207
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.49
    Marker Score: 4,170
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.48
    Marker Score: 1,289
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.45
    Marker Score: 239
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 0.44
    Marker Score: 156
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.43
    Marker Score: 4,476
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.41
    Marker Score: 634
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.4
    Marker Score: 757
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.4
    Marker Score: 6,197
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.39
    Marker Score: 380
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.39
    Marker Score: 107
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.39
    Marker Score: 103
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.39
    Marker Score: 3,684
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.38
    Marker Score: 12,984
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.38
    Marker Score: 170
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.37
    Marker Score: 758
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.37
    Marker Score: 211
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 371
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.35
    Marker Score: 110
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.34
    Marker Score: 188
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.34
    Marker Score: 107
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.33
    Marker Score: 1,959
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.32
    Marker Score: 19,867
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.31
    Marker Score: 131
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.3
    Marker Score: 197
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.3
    Marker Score: 333
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.29
    Marker Score: 293
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.29
    Marker Score: 167
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.29
    Marker Score: 1,703
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.28
    Marker Score: 103
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.27
    Marker Score: 244
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.26
    Marker Score: 176
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.26
    Marker Score: 80
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.25
    Marker Score: 2,375
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.25
    Marker Score: 509
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.25
    Marker Score: 64
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.24
    Marker Score: 576
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 0.24
    Marker Score: 185
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.24
    Marker Score: 187
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 0.24
    Marker Score: 1,303
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.24
    Marker Score: 97
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.24
    Marker Score: 8,760
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.23
    Marker Score: 140
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.23
    Marker Score: 85
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.23
    Marker Score: 97
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.23
    Marker Score: 903
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.23
    Marker Score: 945
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.23
    Marker Score: 79
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.22
    Marker Score: 8,503
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.22
    Marker Score: 75
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.22
    Marker Score: 71
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.22
    Marker Score: 130
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.21
    Marker Score: 4,217
  • Cell Name: granule cell (CL0000120)
    Fold Change: 0.2
    Marker Score: 1,529
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.2
    Marker Score: 97
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.2
    Marker Score: 70
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 0.2
    Marker Score: 1,047
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 0.2
    Marker Score: 666
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.19
    Marker Score: 339
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 0.19
    Marker Score: 443
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.19
    Marker Score: 1,920
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.19
    Marker Score: 100
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 0.19
    Marker Score: 97
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.19
    Marker Score: 118
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.18
    Marker Score: 88
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.18
    Marker Score: 36
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 0.18
    Marker Score: 189
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 0.17
    Marker Score: 82
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.17
    Marker Score: 50
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.17
    Marker Score: 311
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.17
    Marker Score: 198
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.17
    Marker Score: 68
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.17
    Marker Score: 57
  • Cell Name: mesenchymal lymphangioblast (CL0005021)
    Fold Change: 0.16
    Marker Score: 36
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.16
    Marker Score: 59
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.16
    Marker Score: 65

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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:** The CERS1 gene is a pseudogene, meaning that it does not produce a functional protein. Instead, it is thought to be a remnant of a functional gene that has been inactivated through genetic drift or other mechanisms. Despite this, the CERS1 gene is still expressed in various cell types, suggesting that it may play a regulatory role in the expression of other genes involved in ceramide biosynthesis. **Pathways and Functions:** Ceramides are synthesized through a complex series of reactions involving ceramide synthases, such as CERS1. The CERS1 enzyme catalyzes the condensation of sphingosine with palmitoyl-CoA to form ceramide. This enzyme is involved in various cellular processes, including: * **Immune regulation:** Ceramides play a crucial role in regulating immune responses, including the activation of immune cells and the production of cytokines. * **Cell signaling:** Ceramides can act as signaling molecules, influencing various cellular processes, including cell growth, differentiation, and survival. * **Membrane trafficking:** Ceramides are involved in the regulation of membrane trafficking, including endocytosis and exocytosis. **Clinical Significance:** Dysregulation of ceramide biosynthesis has been implicated in various diseases, including: * **Autoimmune disorders:** Ceramides have been shown to play a role in the pathogenesis of autoimmune disorders, such as multiple sclerosis and rheumatoid arthritis. * **Cancer:** Ceramides have been implicated in the development and progression of various cancers, including breast, lung, and colon cancer. * **Neurological disorders:** Ceramides have been implicated in the pathogenesis of neurological disorders, such as Alzheimer's disease and Parkinson's disease. In addition, the CERS1 gene has been identified as a potential therapeutic target for the treatment of various diseases. For example, inhibitors of CERS1 have been shown to reduce the levels of ceramides in the brain, potentially providing a therapeutic benefit for patients with Alzheimer's disease. **Conclusion:** In conclusion, the CERS1 gene plays a crucial role in regulating ceramide biosynthesis and has implications for various cellular processes, including immune regulation, cell signaling, and membrane trafficking. Its dysregulation has been implicated in various diseases, including autoimmune disorders, cancer, and neurological disorders. Further research is needed to fully understand the role of the CERS1 gene in human health and disease, and to identify potential therapeutic targets for the treatment of these conditions.

Genular Protein ID: 3878381393

Symbol: CERS1_HUMAN

Name: N/A

UniProtKB Accession Codes:

P27544

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChEBI 35 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 9 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 13 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 PANTHER 2 PIR 1 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 2 Rhea 14 SMART 1 SMR 1 SignaLink 1 SwissLipids 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 1 VEuPathDB 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2034669

Title: Expression of growth/differentiation factor 1 in the nervous system: conservation of a bicistronic structure.

PubMed ID: 2034669

DOI: 10.1073/pnas.88.10.4250

PubMed ID: 9872981

Title: Homologs of the yeast longevity gene LAG1 in Caenorhabditis elegans and human.

PubMed ID: 9872981

DOI: 10.1101/gr.8.12.1259

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

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: 17977534

Title: Kinetic characterization of mammalian ceramide synthases: determination of K(m) values towards sphinganine.

PubMed ID: 17977534

DOI: 10.1016/j.febslet.2007.10.018

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 22922758

Title: Ceramide targets autophagosomes to mitochondria and induces lethal mitophagy.

PubMed ID: 22922758

DOI: 10.1038/nchembio.1059

PubMed ID: 23530041

Title: Myristate-derived d16:0 sphingolipids constitute a cardiac sphingolipid pool with distinct synthetic routes and functional properties.

PubMed ID: 23530041

DOI: 10.1074/jbc.m112.428185

PubMed ID: 24782409

Title: Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy.

PubMed ID: 24782409

DOI: 10.1002/ana.24170

PubMed ID: 26887952

Title: Enzyme activities of the ceramide synthases CERS2-6 are regulated by phosphorylation in the C-terminal region.

PubMed ID: 26887952

DOI: 10.1074/jbc.m115.695858

PubMed ID: 31916624

Title: Biosynthesis of the anti-lipid-microdomain sphingoid base 4,14-sphingadiene by the ceramide desaturase FADS3.

PubMed ID: 31916624

DOI: 10.1096/fj.201902645r

PubMed ID: 33798445

Title: Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.

PubMed ID: 33798445

DOI: 10.1016/j.ajhg.2021.03.013

Sequence Information:

  • Length: 350
  • Mass: 39536
  • Checksum: F102C12C47DB4162
  • Sequence:
    • MAAAGPAAGP TGPEPMPSYA QLVQRGWGSA LAAARGCTDC GWGLARRGLA EHAHLAPPEL 
LLLALGALGW TALRSAATAR LFRPLAKRCC LQPRDAAKMP ESAWKFLFYL GSWSYSAYLL 
FGTDYPFFHD PPSVFYDWTP GMAVPRDIAA AYLLQGSFYG HSIYATLYMD TWRKDSVVML 
LHHVVTLILI VSSYAFRYHN VGILVLFLHD ISDVQLEFTK LNIYFKSRGG SYHRLHALAA 
DLGCLSFGFS WFWFRLYWFP LKVLYATSHC SLRTVPDIPF YFFFNALLLL LTLMNLYWFL 
YIVAFAAKVL TGQVHELKDL REYDTAEAQS LKPSKAEKPL RNGLVKDKRF

Genular Protein ID: 3417555665

Symbol: Q5XG75_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q5XG75

Database IDs:

ARBA 7 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChEBI 5 ChiTaRS 1 DNASU 1 EMBL 4 EPD 1 Ensembl 2 GO 3 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 InterPro 2 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 PANTHER 2 PIRSF 1 PROSITE 2 PROSITE-ProRule 1 Pfam 1 Proteomes 2 ProteomicsDB 1 RefSeq 1 Rhea 2 SAM 1 SMART 1 UCSC 1 UniPathway 1 VEuPathDB 1

Citations:

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: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

Sequence Information:

  • Length: 239
  • Mass: 27902
  • Checksum: F6E9DE576D57E657
  • Sequence:
    • MPESAWKFLF YLGSWSYSAY LLFGTDYPFF HDPPSVFYDW TPGMAVPRDI AAAYLLQGSF 
YGHSIYATLY MDTWRKDSVV MLLHHVVTLI LIVSSYAFRY HNVGILVLFL HDISDVQLEF 
TKLNIYFKSR GGSYHRLHAL AADLGCLSFG FSWFWFRLYW FPLKVLYATS HCSLRTVPDI 
PFYFFFNALL LLLTLMNLYW FLYIVAFAAK VLTGQVHELK DLREYDTAEA QSLKPSKAE

Genular Protein ID: 2516263714

Symbol: B4DE47_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DE47

Database IDs:

ARBA 7 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChEBI 5 DNASU 1 EMBL 2 GO 3 GenomeRNAi 1 InterPro 2 NCBI Taxonomy 1 PANTHER 2 PIRSF 1 PROSITE 2 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 1 RefSeq 1 Rhea 2 SAM 1 SMART 1 UniPathway 1

Sequence Information:

  • Length: 239
  • Mass: 27842
  • Checksum: B7476E16C786ED57
  • Sequence:
    • MPESAWKFLF YLGSWSYSAY LLFGTDCPFF HDPPSVFYDW TPGMAVPRDI AAAYLLQGSF 
YGHSIYATLY MDTWRKDSVV MLLHHVVTLI LIVSSYAFRY HNVGILVLFL HDISDVQLEF 
TKLNIYFKSR GGSYHRLHAL AADLGCLSFG FSWFWFRLYW FPLKVLYATS HCSLRTVPDI 
PFYFFFNALL LLLTLMNLYW FLYIVAFAAK VLTGQVHELK DLREYDTAEA QSLKPSKAE

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.