Acer1 alkaline ceramidase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Acer1provided by MGI
Official Full Name: alkaline ceramidase 1provided by MGI
Primary source: MGI:MGI:2181962
See related: Ensembl:ENSMUSG00000045019 AllianceGenome:MGI:2181962
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: Cer1; Asah3; Alkcdase1; 2310024P18Rik
Summary: Enables N-acylsphingosine amidohydrolase activity. Involved in regulation of water loss via skin; sebaceous gland development; and sphingosine biosynthetic process. Acts upstream of or within ceramide catabolic process and regulation of lipid metabolic process. Located in endoplasmic reticulum. Orthologous to human ACER1 (alkaline ceramidase 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in colon adult (RPKM 37.7), stomach adult (RPKM 17.2) and 3 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 D; 17 29.59 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (57260490..57289126, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (56953490..56982126, complement)

Chromosome 17 - NC_000083.7 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 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?

Alkaline ceramidase 1-mediated platelet ceramide catabolism mitigates vascular inflammation and abdominal aortic aneurysm formation.
Title: Alkaline ceramidase 1-mediated platelet ceramide catabolism mitigates vascular inflammation and abdominal aortic aneurysm formation.
Loss of Acer1 elevated the levels of various ceramides and sphingoid bases in the skin and caused progressive hair loss in mice.
Title: Alkaline Ceramidase 1 Protects Mice from Premature Hair Loss by Maintaining the Homeostasis of Hair Follicle Stem Cells.
In conclusion, the present study unraveled ceramidase as a crucial player in sphingosine-induced platelet activation following GPVI-dependent signaling.
Title: Ceramidase critically affects GPVI-dependent platelet activation and thrombus formation.
novel alkaline ceramidase with a stringent substrate specificity and is selectively expressed in skin and may have a role in regulating the levels of bioactive lipids ceramide and sphingosine-1-p, as well as complex sphingolipids.
Title: Cloning and characterization of a mouse endoplasmic reticulum alkaline ceramidase: an enzyme that preferentially regulates metabolism of very long chain ceramides.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (2)

General gene information

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Markers

AI662009 (e-PCR)
- UniSTS:166066

D17Mit158 (e-PCR), detects polymorphism
- UniSTS:127983

D17Mit158.1 (e-PCR), detects polymorphism
- UniSTS:127984

D17Mit158.3 (e-PCR), detects polymorphism
- UniSTS:127985

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables N-acylsphingosine amidohydrolase activity	IBA Inferred from Biological aspect of Ancestor more info
enables N-acylsphingosine amidohydrolase activity	IDA Inferred from Direct Assay more info	PubMed
enables N-acylsphingosine amidohydrolase activity	ISO Inferred from Sequence Orthology more info
enables N-acylsphingosine amidohydrolase activity	ISS Inferred from Sequence or Structural Similarity more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in cellular response to calcium ion	IEA Inferred from Electronic Annotation more info
involved_in cellular response to calcium ion	ISO Inferred from Sequence Orthology more info
involved_in ceramide catabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within ceramide catabolic process	IDA Inferred from Direct Assay more info	PubMed
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 keratinocyte differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of lipid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in response to alkaline pH	IEA Inferred from Electronic Annotation more info
involved_in response to alkaline pH	ISO Inferred from Sequence Orthology more info
involved_in sebaceous gland development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sphingolipid biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within sphingolipid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in sphingosine biosynthetic process	IBA Inferred from Biological aspect of Ancestor 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
involved_in sphingosine biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: alkaline ceramidase 1

Names: N-acylsphingosine amidohydrolase 3; acylsphingosine deacylase 3; alkCDase 1; alkaline cdase 1; maCER1

NP_783858.1

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.