Acer2 alkaline ceramidase 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Acer2provided by MGI
Official Full Name: alkaline ceramidase 2provided by MGI
Primary source: MGI:MGI:1920932
See related: Ensembl:ENSMUSG00000038007 AllianceGenome:MGI:1920932
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: Asah3l; CRG-L1; maCER2; 2410116I05Rik
Summary: Enables N-acylsphingosine amidohydrolase activity. Involved in sphingosine biosynthetic process. Predicted to be located in Golgi apparatus. Predicted to be active in Golgi membrane. Is expressed in several structures, including heart; hemolymphoid system; liver; lung; and stomach. Orthologous to human ACER2 (alkaline ceramidase 2). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in bladder adult (RPKM 106.5), lung adult (RPKM 59.3) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 C4; 4 40.69 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (86792585..86853059)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (86874348..86932524)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Exosomal miR-125b-5p derived from adipose-derived mesenchymal stem cells enhance diabetic hindlimb ischemia repair via targeting alkaline ceramidase 2.
Title: Exosomal miR-125b-5p derived from adipose-derived mesenchymal stem cells enhance diabetic hindlimb ischemia repair via targeting alkaline ceramidase 2.
Maternal and fetal alkaline ceramidase 2 is required for placental vascular integrity in mice.
Title: Maternal and fetal alkaline ceramidase 2 is required for placental vascular integrity in mice.
Using genome-wide association analyses, we identified eight gene-containing loci, including a locus containing Acer2, which encodes a ceramidase and is specifically expressed in the collecting duct. Knockout of Acer2 led to increased susceptibility for lithium-induced diabetes insipidus development.
Title: Identification of Acer2 as a First Susceptibility Gene for Lithium-Induced Nephrogenic Diabetes Insipidus in Mice.
results suggest that ACER2 plays a key role in the maintenance of high plasma levels of sphingoid base-1-phosphates-S1P and dhS1P-by controlling the generation of sphingoid bases-SPH and dhSPH-in hematopoietic cells.
Title: Alkaline ceramidase 2 is essential for the homeostasis of plasma sphingoid bases and their phosphates.

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Variation

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Alleles

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

Endonuclease-mediated (2) 1 citation

General gene information

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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	IMP Inferred from Mutant Phenotype 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 DNA damage response	ISO Inferred from Sequence Orthology more info
involved_in DNA damage response	ISS Inferred from Sequence or Structural Similarity more info
involved_in DNA damage response, signal transduction by p53 class mediator	ISO Inferred from Sequence Orthology more info
involved_in DNA damage response, signal transduction by p53 class mediator	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in ceramide catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in ceramide catabolic process	ISO Inferred from Sequence Orthology more info
involved_in ceramide catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell adhesion mediated by integrin	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell adhesion mediated by integrin	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell-matrix adhesion	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell-matrix adhesion	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cysteine-type endopeptidase activity	ISO Inferred from Sequence Orthology more info
involved_in regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of autophagy	ISO Inferred from Sequence Orthology more info
involved_in regulation of autophagy	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of protein glycosylation	IEA Inferred from Electronic Annotation more info
involved_in regulation of protein glycosylation	ISO Inferred from Sequence Orthology more info
involved_in response to retinoic acid	IEA Inferred from Electronic Annotation more info
involved_in response to retinoic acid	ISO Inferred from Sequence Orthology more info
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
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
is_active_in Golgi membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi membrane	ISO Inferred from Sequence Orthology more info
located_in Golgi membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: alkaline ceramidase 2

Names: alkCDase 2; alkaline CDase 2; cancer related gene-liver 1 (CRG-L1); cancer-related gene liver 1 protein; ceramide hydrolase

NP_001277470.1

EC 3.5.1.23

NP_001277472.1

EC 3.5.1.23

NP_647467.1

EC 3.5.1.23

XP_006537940.1

EC 3.5.1.23

XP_006537941.1

EC 3.5.1.23

XP_011248314.1

EC 3.5.1.23

XP_036019887.1

EC 3.5.1.23

XP_036019888.1

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_001290541.1 → NP_001277470.1 alkaline ceramidase 2 isoform 2

See identical proteins and their annotated locations for NP_001277470.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 2, which lacks an internal segment and is shorter, compared to isoform 1.

Source sequence(s)

BB028627, BC059819

Consensus CDS

CCDS71417.1

UniProtKB/Swiss-Prot

Q8VD53

Related

ENSMUSP00000081473.5, ENSMUST00000084433.5

Conserved Domains (1) summary

pfam05875
Location:13 → 215

Ceramidase; Ceramidase
NM_001290543.1 → NP_001277472.1 alkaline ceramidase 2 isoform 3

See identical proteins and their annotated locations for NP_001277472.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) contains an alternate 3' terminal exon, compared to variant 1. It encodes isoform 3, which is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK085306, BC059819

UniProtKB/Swiss-Prot

Q8VD53

Related

ENSMUST00000128712.2

Conserved Domains (1) summary

pfam05875
Location:13 → 214

Ceramidase; Ceramidase
NM_139306.3 → NP_647467.1 alkaline ceramidase 2 isoform 1

See identical proteins and their annotated locations for NP_647467.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AK085306, BB028627, BC059819

Consensus CDS

CCDS18311.1

UniProtKB/Swiss-Prot

Q6PB92, Q8BUG3, Q8VD53

Related

ENSMUSP00000040048.8, ENSMUST00000045224.14

Conserved Domains (1) summary

pfam05875
Location:13 → 261

Ceramidase; Ceramidase

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

NC_000070.7 Reference GRCm39 C57BL/6J

Range

86792585..86853059

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006537878.4 → XP_006537941.1 alkaline ceramidase 2 isoform X2

Conserved Domains (1) summary

pfam05875
Location:13 → 153

Ceramidase
XM_036163995.1 → XP_036019888.1 alkaline ceramidase 2 isoform X5

Conserved Domains (1) summary

pfam05875
Location:13 → 168

Ceramidase
XM_006537877.4 → XP_006537940.1 alkaline ceramidase 2 isoform X1

Conserved Domains (1) summary

pfam05875
Location:13 → 199

Ceramidase
XM_036163994.1 → XP_036019887.1 alkaline ceramidase 2 isoform X3

Conserved Domains (1) summary

pfam05875
Location:13 → 215

Ceramidase
XM_011250012.4 → XP_011248314.1 alkaline ceramidase 2 isoform X4

Conserved Domains (1) summary

pfam05875
Location:13 → 198

Ceramidase

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_028605.2: Suppressed sequence

Description

NM_028605.2: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.