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

Summary

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

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_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.

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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)

General gene information

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Markers

BB361171 (e-PCR)
- UniSTS:208156

AV015045 (e-PCR)
- UniSTS:165542

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

EC 3.5.1.23

NP_001347545.1

EC 3.5.1.23

NP_001347546.1

EC 3.5.1.23

NP_079684.2

EC 3.5.1.23

XP_030098749.1

EC 3.5.1.23

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)

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
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
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
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

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