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    Acp2 acid phosphatase 2, lysosomal [ Mus musculus (house mouse) ]

    Gene ID: 11432, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Acp2provided by MGI
    Official Full Name
    acid phosphatase 2, lysosomalprovided by MGI
    Primary source
    MGI:MGI:87882
    See related
    Ensembl:ENSMUSG00000002103 AllianceGenome:MGI:87882
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    LAP; Acp-2
    Summary
    The protein encoded by this gene belongs to the histidine acid phosphatase family, which hydrolyze orthophosphoric monoesters to alcohol and phosphate. This protein is localized to the lysosomal membrane, and is chemically and genetically distinct from the red cell acid phosphatase. Mice lacking this gene showed multiple defects, including bone structure alterations, lysosomal storage defects, and an increased tendency towards seizures. An enzymatically-inactive allele of this gene showed severe growth retardation, hair-follicle abnormalities, and an ataxia-like phenotype. Two isoforms are predicted to be produced from the same mRNA by the use of alternative in-frame translation termination codons via a stop codon readthrough mechanism. [provided by RefSeq, Oct 2017]
    Expression
    Ubiquitous expression in mammary gland adult (RPKM 14.6), ovary adult (RPKM 12.8) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    2 E1; 2 50.54 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (91033157..91044443)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (91202812..91214098)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene MAP-kinase activating death domain Neighboring gene STARR-positive B cell enhancer mm9_chr2:91023256-91023557 Neighboring gene STARR-positive B cell enhancer ABC_E4478 Neighboring gene nuclear receptor subfamily 1, group H, member 3 Neighboring gene STARR-positive B cell enhancer ABC_E9070 Neighboring gene predicted gene, 23390 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:91057269-91057452 Neighboring gene damage specific DNA binding protein 2 Neighboring gene RIKEN cDNA A330069E16 gene Neighboring gene STARR-positive B cell enhancer ABC_E8985 Neighboring gene predicted gene, 31054

    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. Cerebellar Expression of the Neurotrophin Receptor p75 in Naked-Ataxia Mutant Mouse. Rahimi Balaei M, et al. Int J Mol Sci, 2016 Jan 15. PMID 26784182, Free PMC Article
    2. Purkinje cell compartmentation in the cerebellum of the lysosomal Acid phosphatase 2 mutant mouse (nax - naked-ataxia mutant mouse). Bailey K, et al. PLoS One, 2014. PMID 24722417, Free PMC Article
    3. Molecular cloning of the mouse lysosomal acid phosphatase. Geier C, et al. Biol Chem Hoppe Seyler, 1991 Apr. PMID 2059337
    4. Mannose 6 dephosphorylation of lysosomal proteins mediated by acid phosphatases Acp2 and Acp5. Makrypidi G, et al. Mol Cell Biol, 2012 Feb. PMID 22158965, Free PMC Article
    5. Localization of lysosomal acid phosphatase mRNA in mouse tissues. Geier C, et al. J Histochem Cytochem, 1992 Sep. PMID 1506664

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Reduced Granule Cell Proliferation and Molecular Dysregulation in the Cerebellum of Lysosomal Acid Phosphatase 2 (ACP2) Mutant Mice.
      Title: Reduced Granule Cell Proliferation and Molecular Dysregulation in the Cerebellum of Lysosomal Acid Phosphatase 2 (ACP2) Mutant Mice.
    2. ACP2 has critical roles in the development of the anterior cerebellum and it may regulate anterior and central zone compartmentation.
      Title: Purkinje cell compartmentation in the cerebellum of the lysosomal Acid phosphatase 2 mutant mouse (nax - naked-ataxia mutant mouse).
    3. These data suggest that ACP2 expression is dynamically regulated during development, and in the adult, it may function within a complex architecture that is linked to cerebellar modular organization.
      Title: Spatial and temporal expression of lysosomal acid phosphatase 2 (ACP2) reveals dynamic patterning of the mouse cerebellar cortex.
    4. dephosphorylation of Man6P-containing lysosomal proteins requires the concerted action of Acp2 and Acp5 and is needed for hydrolysis and removal of degradation products
      Title: Mannose 6 dephosphorylation of lysosomal proteins mediated by acid phosphatases Acp2 and Acp5.
    5. The data suggest that lysosomal dysfunction and accumulation of storage material require increased biogenesis of LAP/ACP2 and LAMP-2 positive membranes which makes LAP/ACP2 suitable as biomarker of Batten disease.
      Title: Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue.
    6. Acp2 is the gene mutated in nax mice provides a valuable model system for studying the role of Acp2 in cerebellum and skin homeostasis.
      Title: Mutation in the gene encoding lysosomal acid phosphatase (Acp2) causes cerebellum and skin malformation in mouse.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables acid phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables acid phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables acid phosphatase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables acid phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphoprotein phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphotyrosine residue binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in autophagic cell death ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in dephosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in lysosome organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within lysosome organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in response to organic substance ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in lysosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lysosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in lysosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    lysosomal acid phosphatase
    NP_001343996.1
    NP_031413.1
    XP_011237559.1

    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_001357067.1 → NP_001343996.1  lysosomal acid phosphatase isoform 1x precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (1) results from translation termination at the upstream UGA stop codon, while the longer isoform (1x) results from UGA stop codon readthrough to the downstream UAG termination codon. This RefSeq represents the longer isoform (1x). As the UGA stop codon has been reported to specify several alternative amino acids (tryptophan, cysteine, arginine and serine), its location in the longer isoform is denoted by an 'X'.
      Source sequence(s)
      AK128963, AK133756, AL691450, AW061158, BQ445129, CD741498
      Consensus CDS
      CCDS89516.1
      UniProtKB/TrEMBL
      A0A5F8MPS7, Q3U4F3
      Related
      ENSMUSP00000159089.2, ENSMUST00000238832.2
      Conserved Domains (1) summary
      cd07061
      Location:33 → 330
      HP_HAP_like; Histidine phosphatase domain found in histidine acid phosphatases and phytases; contains a His residue which is phosphorylated during the reaction

    2. NM_007387.2 → NP_031413.1  lysosomal acid phosphatase isoform 1 precursor

      See identical proteins and their annotated locations for NP_031413.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (1) results from translation termination at the upstream UGA stop codon, while the longer isoform (1x) results from UGA stop codon readthrough to the downstream UAG termination codon. This RefSeq represents the shorter isoform (1).
      Source sequence(s)
      AK128963, AK133756, AL691450, AW061158, BQ445129, CD741498
      Consensus CDS
      CCDS16427.1
      UniProtKB/Swiss-Prot
      P24638, Q8QZT5
      UniProtKB/TrEMBL
      Q3U4F3
      Related
      ENSMUSP00000159053.2, ENSMUST00000239169.2
      Conserved Domains (1) summary
      cd07061
      Location:33 → 330
      HP_HAP_like; Histidine phosphatase domain found in histidine acid phosphatases and phytases; contains a His residue which is phosphorylated during the reaction

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      91033157..91044443
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011239257.3 → XP_011237559.1  lysosomal acid phosphatase isoform X1

      UniProtKB/TrEMBL
      Q3U4F3
      Conserved Domains (1) summary
      cd07061
      Location:18 → 312
      HP_HAP_like; Histidine phosphatase domain found in histidine acid phosphatases and phytases; contains a His residue which is phosphorylated during the reaction

    RNA

    1. XR_003950055.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P24638.2 GenPept UniProtKB/Swiss-Prot:P24638

    Gene LinkOut

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