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

    Gene ID: 11432, updated on 17-Mar-2018

    Summary

    Official Symbol
    Acp2provided by MGI
    Official Full Name
    acid phosphatase 2, lysosomalprovided by MGI
    Primary source
    MGI:MGI:87882
    See related
    Ensembl:ENSMUSG00000002103 Vega:OTTMUSG00000014413
    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

    Genomic context

    See Acp2 in Genome Data Viewer
    Location:
    2 E1; 2 50.54 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 2 NC_000068.7 (91202812..91214098)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 2 NC_000068.6 (91043069..91054255)

    Chromosome 2 - NC_000068.7Genomic Context describing neighboring genes Neighboring gene myosin binding protein C, cardiac Neighboring gene MAP-kinase activating death domain Neighboring gene nuclear receptor subfamily 1, group H, member 3 Neighboring gene damage specific DNA binding protein 2 Neighboring gene RIKEN cDNA A330069E16 gene Neighboring gene predicted gene, 31054

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

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

    Pathways from BioSystems

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    acid phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acid phosphatase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acid phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
     
    hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    phosphoprotein phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
     
    phosphotyrosine residue binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    autophagic cell death ISO
    Inferred from Sequence Orthology
    more info
     
    lysosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to organic substance ISO
    Inferred from Sequence Orthology
    more info
     
    skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasmic vesicle ISO
    Inferred from Sequence Orthology
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    lysosome ISO
    Inferred from Sequence Orthology
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    neuron projection ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    lysosomal acid phosphatase
    NP_031413.1
    XP_006498648.1
    XP_011237559.1

    NCBI Reference Sequences (RefSeq)

    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_001357067.1NP_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
      Conserved Domains (1) summary
      cd07061
      Location:33330
      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_007387.2NP_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
      UniProtKB/TrEMBL
      Q3UZN1
      Related
      ENSMUSP00000002172.7, OTTMUSP00000015308, ENSMUST00000002172.13, OTTMUST00000034159
      Conserved Domains (1) summary
      cd07061
      Location:33330
      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: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000068.7 Reference GRCm38.p4 C57BL/6J

      Range
      91202812..91214098
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011239257.2XP_011237559.1  lysosomal acid phosphatase isoform X1

      Conserved Domains (1) summary
      cd07061
      Location:18312
      HP_HAP_like; Histidine phosphatase domain found in histidine acid phosphatases and phytases; contains a His residue which is phosphorylated during the reaction
    2. XM_006498585.3XP_006498648.1  lysosomal acid phosphatase isoform X2

      Conserved Domains (1) summary
      cd07061
      Location:33149
      HP_HAP_like; Histidine phosphatase domain found in histidine acid phosphatases and phytases; contains a His residue which is phosphorylated during the reaction
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