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    ACP2 acid phosphatase 2, lysosomal [ Homo sapiens ]

    Gene ID: 53, updated on 11-May-2012

    Summary

    Official Symbol
    ACP2provided by HGNC
    Official Full Name
    acid phosphatase 2, lysosomalprovided by HGNC
    Primary source
    HGNC:123
    See related
    Ensembl:ENSG00000134575; HPRD:01375; MIM:171650; Vega:OTTHUMG00000166949
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes the beta subunit of lysosomal acid phosphatase (LAP). LAP is chemically and genetically distinct from red cell acid phosphatase. The encoded protein belongs to a family of distinct isoenzymes which hydrolyze orthophosphoric monoesters to alcohol and phosphate. Mutations in this gene or in the related alpha subunit gene cause acid phosphatase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Aug 2008]

    Genomic context

    Location :
    11p11.2; 11p12-p11
    Sequence :
    Chromosome: 11; NC_000011.9 (47260853..47270457, complement)
    See ACP2 in Epigenomics, MapViewer

    Chromosome 11 - NC_000011.9Genomic Context describing neighboring genes Neighboring gene ribosomal protein S20 pseudogene 26 Neighboring gene damage-specific DNA binding protein 2, 48kDa Neighboring gene nuclear receptor subfamily 1, group H, member 3 Neighboring gene MAP-kinase activating death domain Neighboring gene myosin binding protein C, cardiac

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:106569 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • Lysosome, organism-specific biosystem (from KEGG)
      Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Lysosome, conserved biosystem (from KEGG)
      Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Riboflavin metabolism, organism-specific biosystem (from KEGG)
      Riboflavin metabolism, organism-specific biosystem
      Riboflavin metabolism
    • Riboflavin metabolism, conserved biosystem (from KEGG)
      Riboflavin metabolism, conserved biosystem
      Riboflavin metabolism

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    acid phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    phosphoprotein phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    phosphotyrosine binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    autophagic cell death IEA
    Inferred from Electronic Annotation
    more info
     
    dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    lysosome organization IEA
    Inferred from Electronic Annotation
    more info
     
    response to organic substance IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal system development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
     
    lysosomal lumen IEA
    Inferred from Electronic Annotation
    more info
     
    lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
     
    lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    synaptosome IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    lysosomal acid phosphatase
    Names
    lysosomal acid phosphatase
    LAP
    NP_001124536.1
    NP_001601.1

    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.

    Genomic

    1. NG_023296.1 RefSeqGene

      Range
      5001..14605
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001131064.1NP_001124536.1  lysosomal acid phosphatase isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant uses a different splice site in the 3' coding region and is much shorter, compared to variant 1. The predicted protein (isoform 2) has a shorter and distinct C-terminus when it is compared to isoform 1.
      Source sequence(s)
      DA382854, DC337294
      Consensus CDS
      CCDS44583.1
      UniProtKB/TrEMBL
      E9PCI1
      Related
      ENSP00000414911, OTTHUMP00000234587, ENST00000444355, OTTHUMT00000392162
      Conserved Domains (1) summary
      cd07061
      Location:33151
      Blast Score: 278
      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_001610.2NP_001601.1  lysosomal acid phosphatase isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer protein (isoform 1).
      Source sequence(s)
      BC003160, BC093010, DC337294
      Consensus CDS
      CCDS7928.1
      UniProtKB/Swiss-Prot
      P11117
      Related
      ENSP00000256997, OTTHUMP00000234497, ENST00000256997, OTTHUMT00000392022
      Conserved Domains (1) summary
      cd07061
      Location:33330
      Blast Score: 388
      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: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000011.9 Reference GRCh37.p5 Primary Assembly

      Range
      47260853..47270457, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000143.1 Alternate HuRef

      Range
      46959833..46969437, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC018410.24 (114486..123996) None
    genomic CH471064.2 EAW67950.1
      EAW67951.1
    genomic X15525.1 CAA33542.1
    genomic X15535.1 None
    mRNA AK298122.1 BAH12728.1
    mRNA AK298439.1 BAH12788.1
    mRNA AK299382.1 BAH13021.1
    mRNA AK300569.1 BAH13304.1
    mRNA AK300911.1 BAH13374.1
    mRNA AK300931.1 BAH13379.1
    mRNA AK301860.1 BAH13568.1
    mRNA AK303894.1 BAH14075.1
    mRNA AK308512.1 None
    mRNA AK311431.1 None
    mRNA AY007137.1 None
    mRNA BC003160.1 AAH03160.1
    mRNA BC093010.1 AAH93010.1
    mRNA DA382854.1 None
    mRNA DC337294.1 None
    mRNA X12548.1 CAA31064.1
    other-genetic DQ892669.2 ABM83595.1
    other-genetic DQ895913.2 ABM86839.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P11117.3 GenPept UniProtKB/Swiss-Prot:P11117

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