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Acer3 alkaline ceramidase 3 [ Mus musculus (house mouse) ]

Gene ID: 66190, updated on 11-Apr-2024

Summary

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Official Symbol
Acer3provided by MGI
Official Full Name
alkaline ceramidase 3provided by MGI
Primary source
MGI:MGI:1913440
See related
Ensembl:ENSMUSG00000030760 AllianceGenome:MGI:1913440
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Phca; aPHC; 1110057L18Rik; 5430429L08Rik
Summary
Enables phytoceramidase activity. Involved in ceramide catabolic process; inflammatory response; and sphingosine biosynthetic process. Predicted to be integral component of Golgi membrane. Predicted to be integral component of endoplasmic reticulum membrane. Is expressed in hair; integumental system; vibrissa; and vibrissa follicle. Orthologous to human ACER3 (alkaline ceramidase 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in bladder adult (RPKM 3.7), liver E14 (RPKM 3.3) and 25 other tissues See more
Orthologs
human all
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Genomic context

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Location:
7 E1; 7 53.65 cM
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (97863015..97970415, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (98213808..98321208, complement)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene calpain 5 Neighboring gene STARR-positive B cell enhancer mm9_chr7:105326664-105326964 Neighboring gene STARR-seq mESC enhancer starr_19624 Neighboring gene predicted gene, 16938 Neighboring gene UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 Neighboring gene STARR-seq mESC enhancer starr_19625 Neighboring gene STARR-seq mESC enhancer starr_19626 Neighboring gene STARR-positive B cell enhancer mm9_chr7:105457877-105458178 Neighboring gene STARR-seq mESC enhancer starr_19627 Neighboring gene STARR-seq mESC enhancer starr_19628 Neighboring gene tsukushi, small leucine rich proteoglycan Neighboring gene predicted gene 44507

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Targeting alkaline ceramidase 3 alleviates the severity of nonalcoholic steatohepatitis by reducing oxidative stress. Wang K, et al. Cell Death Dis, 2020 Jan 16. PMID 31949129, Free PMC Article
  2. Alkaline ceramidase 3 deficiency aggravates colitis and colitis-associated tumorigenesis in mice by hyperactivating the innate immune system. Wang K, et al. Cell Death Dis, 2016 Mar 3. PMID 26938296, Free PMC Article
  3. Alkaline Ceramidase 3 Deficiency Results in Purkinje Cell Degeneration and Cerebellar Ataxia Due to Dyshomeostasis of Sphingolipids in the Brain. Wang K, et al. PLoS Genet, 2015 Oct. PMID 26474409, Free PMC Article
  4. Alkaline ceramidase 2 is essential for the homeostasis of plasma sphingoid bases and their phosphates. Li F, et al. FASEB J, 2018 Jun. PMID 29401619, Free PMC Article
  5. Maternal and fetal alkaline ceramidase 2 is required for placental vascular integrity in mice. Li F, et al. FASEB J, 2020 Nov. PMID 32959379, Free PMC Article

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Targeting alkaline ceramidase 3 alleviates the severity of nonalcoholic steatohepatitis by reducing oxidative stress.
    Title: Targeting alkaline ceramidase 3 alleviates the severity of nonalcoholic steatohepatitis by reducing oxidative stress.
  2. Alkaline ceramidase 3 expression has an important role in the innate immune response by regulating the expression of pro-inflammatory cytokines in cells of the innate immune system through C18:1-ceramide.
    Title: Alkaline ceramidase 3 deficiency aggravates colitis and colitis-associated tumorigenesis in mice by hyperactivating the innate immune system.
  3. Acer3 plays critically protective roles in controlling the homeostasis of various sphingolipids, including ceramides, sphingosine, S1P, and certain complex sphingolipids in the brain and protects Purkinje cells from premature degeneration.
    Title: Alkaline Ceramidase 3 Deficiency Results in Purkinje Cell Degeneration and Cerebellar Ataxia Due to Dyshomeostasis of Sphingolipids in the Brain.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Targeted (2)  1 citation
  • Endonuclease-mediated (3) 

Pathways from PubChem

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General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables N-acylsphingosine amidohydrolase activity ISO
Inferred from Sequence Orthology
more info
  
enables calcium ion binding ISO
Inferred from Sequence Orthology
more info
  
enables ceramidase activity IEA
Inferred from Electronic Annotation
more info
  
enables dihydroceramidase activity ISO
Inferred from Sequence Orthology
more info
  
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables phytoceramidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phytoceramidase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables phytoceramidase activity ISO
Inferred from Sequence Orthology
more info
  
enables zinc ion binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in ceramide catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in ceramide catabolic process ISO
Inferred from Sequence Orthology
more info
  
involved_in ceramide metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in inflammatory response IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within lipid metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in myelination ISO
Inferred from Sequence Orthology
more info
  
involved_in phytosphingosine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in phytosphingosine biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of cell population proliferation ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of programmed cell death ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within sphingolipid metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in sphingosine biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in sphingosine biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
  
located_in Golgi membrane ISO
Inferred from Sequence Orthology
more info
  
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
  
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane ISO
Inferred from Sequence Orthology
more info
  
located_in membrane ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
alkaline ceramidase 3
Names
alkCDase 3
alkaline CDase 3
alkaline phytoceramidase
phytoceramidase, alkaline
NP_001347544.1
NP_001347545.1
NP_001347546.1
NP_079684.2
XP_030098749.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001360615.1 → NP_001347544.1  alkaline ceramidase 3 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC119880, AK017361
    Consensus CDS
    CCDS90274.1
    UniProtKB/TrEMBL
    D3YTU8
    Related
    ENSMUSP00000112884.2, ENSMUST00000120520.8
    Conserved Domains (1) summary
    pfam05875
    Location:1 → 217
    Ceramidase; Ceramidase

  2. NM_001360616.1 → NP_001347545.1  alkaline ceramidase 3 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC111084, AC119880
    Conserved Domains (1) summary
    pfam05875
    Location:7 → 156
    Ceramidase

  3. NM_001360617.1 → NP_001347546.1  alkaline ceramidase 3 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains an alternate exon compared to variant 1. The resulting isoform (4) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC111084, AC119880
    Conserved Domains (1) summary
    pfam05875
    Location:60 → 149
    Ceramidase

  4. NM_025408.3 → NP_079684.2  alkaline ceramidase 3 isoform 1

    See identical proteins and their annotated locations for NP_079684.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC111084, AC119880
    Consensus CDS
    CCDS21468.1
    UniProtKB/Swiss-Prot
    Q542R2, Q9D099, Q9D0X4, Q9D3J4
    Related
    ENSMUSP00000033020.8, ENSMUST00000033020.14
    Conserved Domains (1) summary
    pfam05875
    Location:9 → 259
    Ceramidase; Ceramidase

RNA

  1. NR_153759.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) contains an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC111084, AC119880

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    97863015..97970415 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030242889.2 → XP_030098749.1  alkaline ceramidase 3 isoform X1

    Conserved Domains (1) summary
    pfam05875
    Location:4 → 153
    Ceramidase

RNA

  1. XR_004934168.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9D099.1 GenPept UniProtKB/Swiss-Prot:Q9D099

Gene LinkOut

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