Format

Send to:

Choose Destination
    • Showing Current items.

    Alpl alkaline phosphatase, liver/bone/kidney [ Mus musculus (house mouse) ]

    Gene ID: 11647, updated on 31-Jan-2019

    Summary

    Official Symbol
    Alplprovided by MGI
    Official Full Name
    alkaline phosphatase, liver/bone/kidneyprovided by MGI
    Primary source
    MGI:MGI:87983
    See related
    Ensembl:ENSMUSG00000028766
    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
    ALP; Akp2; TNAP; Akp-2; APTNAP; TNSALP
    Summary
    This gene encodes a preproprotein that is proteolytically cleaved to yield a signal peptide and a proproptein that is subsequently processed to generate the active mature peptide. The encoded protein is a membrane-bound glycosylated enzyme that catalyzes the hydrolysis of phosphate esters at alkaline pH. The mature peptide maintains the ratio of inorganic phosphate to inorganic pyrophosphate required for bone mineralization. Mice that lack this enzyme show symptoms of osteomalacia, softening of the bones. In humans, mutations in this gene are associated with hypophosphatasia, an inherited metabolic bone disease in which deficiency of this enzyme inhibits bone mineralization leading to skeletal defects. Mutations in the mouse gene mirror the symptoms of human hypophosphatasia. A pseudogene of this gene is present on chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
    Expression
    Biased expression in kidney adult (RPKM 145.9), genital fat pad adult (RPKM 29.1) and 5 other tissues See more
    Orthologs

    Genomic context

    See Alpl in Genome Data Viewer
    Location:
    4 D3; 4 70.02 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 4 NC_000070.6 (137741731..137796384, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 4 NC_000070.5 (137297647..137352292, complement)

    Chromosome 4 - NC_000070.6Genomic Context describing neighboring genes Neighboring gene ubiquitin specific peptidase 48 Neighboring gene Rap1 GTPase-activating protein Neighboring gene RAP1 GTPase activating protein, opposite strand Neighboring gene predicted gene, 32079 Neighboring gene uncharacterized LOC102634683 Neighboring gene endothelin converting enzyme 1

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    alkaline phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    alkaline phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    pyrophosphatase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    pyrophosphatase activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    cellular response to organic cyclic compound IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dephosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    developmental process involved in reproduction IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    endochondral ossification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to antibiotic IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to glucocorticoid ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    anchored component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space ISO
    Inferred from Sequence Orthology
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    alkaline phosphatase, tissue-nonspecific isozyme
    Names
    alkaline phosphatase 2, liver
    NP_001274101.1
    NP_031457.2
    XP_006538560.1
    XP_006538561.1
    XP_006538562.1
    XP_006538563.1
    XP_017175413.1

    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_001287172.1NP_001274101.1  alkaline phosphatase, tissue-nonspecific isozyme preproprotein

      See identical proteins and their annotated locations for NP_001274101.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK167023, AL805954, AL807764, CN539670
      Consensus CDS
      CCDS18821.1
      UniProtKB/Swiss-Prot
      P09242
      Conserved Domains (1) summary
      pfam00245
      Location:51490
      Alk_phosphatase; Alkaline phosphatase
    2. NM_007431.3NP_031457.2  alkaline phosphatase, tissue-nonspecific isozyme preproprotein

      See identical proteins and their annotated locations for NP_031457.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK164002, AK167023, AL805954, AL807764
      Consensus CDS
      CCDS18821.1
      UniProtKB/Swiss-Prot
      P09242
      UniProtKB/TrEMBL
      Q3TQ02
      Related
      ENSMUSP00000030551.4, ENSMUST00000030551.10
      Conserved Domains (1) summary
      pfam00245
      Location:51490
      Alk_phosphatase; Alkaline phosphatase

    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_000070.6 Reference GRCm38.p4 C57BL/6J

      Range
      137741731..137796384 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006538500.2XP_006538563.1  alkaline phosphatase, tissue-nonspecific isozyme isoform X1

      See identical proteins and their annotated locations for XP_006538563.1

      UniProtKB/Swiss-Prot
      P09242
      Conserved Domains (1) summary
      pfam00245
      Location:51490
      Alk_phosphatase; Alkaline phosphatase
    2. XM_006538498.3XP_006538561.1  alkaline phosphatase, tissue-nonspecific isozyme isoform X1

      See identical proteins and their annotated locations for XP_006538561.1

      UniProtKB/Swiss-Prot
      P09242
      Conserved Domains (1) summary
      pfam00245
      Location:51490
      Alk_phosphatase; Alkaline phosphatase
    3. XM_006538499.3XP_006538562.1  alkaline phosphatase, tissue-nonspecific isozyme isoform X1

      See identical proteins and their annotated locations for XP_006538562.1

      UniProtKB/Swiss-Prot
      P09242
      Conserved Domains (1) summary
      pfam00245
      Location:51490
      Alk_phosphatase; Alkaline phosphatase
    4. XM_006538497.3XP_006538560.1  alkaline phosphatase, tissue-nonspecific isozyme isoform X1

      See identical proteins and their annotated locations for XP_006538560.1

      UniProtKB/Swiss-Prot
      P09242
      Conserved Domains (1) summary
      pfam00245
      Location:51490
      Alk_phosphatase; Alkaline phosphatase
    5. XM_017319924.1XP_017175413.1  alkaline phosphatase, tissue-nonspecific isozyme isoform X1

      UniProtKB/Swiss-Prot
      P09242
      Conserved Domains (1) summary
      pfam00245
      Location:51490
      Alk_phosphatase; Alkaline phosphatase

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001287176.1: Suppressed sequence

      Description
      NM_001287176.1: This RefSeq was removed because currently there is not sufficient data to support this transcript.
    Support Center