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

    Gene ID: 11647, updated on 12-May-2024

    Summary

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    Official Symbol
    Alplprovided by MGI
    Official Full Name
    alkaline phosphatase, liver/bone/kidneyprovided by MGI
    Primary source
    MGI:MGI:87983
    See related
    Ensembl:ENSMUSG00000028766 AllianceGenome:MGI:87983
    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
    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
    human all
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    Genomic context

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    Location:
    4 D3; 4 70.02 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (137469042..137523695, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (137741731..137796384, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene Rap1 GTPase-activating protein Neighboring gene RAP1 GTPase activating protein, opposite strand Neighboring gene predicted gene, 52682 Neighboring gene STARR-seq mESC enhancer starr_11793 Neighboring gene STARR-positive B cell enhancer ABC_E4691 Neighboring gene STARR-seq mESC enhancer starr_11795 Neighboring gene predicted gene, 32079 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:137411929-137412112 Neighboring gene STARR-positive B cell enhancer ABC_E6240 Neighboring gene endothelin converting enzyme 1 Neighboring gene predicted gene 13012

    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. Mitochondrial TNAP controls thermogenesis by hydrolysis of phosphocreatine. Sun Y, et al. Nature, 2021 May. PMID 33981039, Free PMC Article
    2. TNAP is a novel regulator of cardiac fibrosis after myocardial infarction by mediating TGF-β/Smads and ERK1/2 signaling pathways. Cheng X, et al. EBioMedicine, 2021 May. PMID 33971401, Free PMC Article
    3. Tissue Nonspecific Alkaline Phosphatase Function in Bone and Muscle Progenitor Cells: Control of Mitochondrial Respiration and ATP Production. Zhang Z, et al. Int J Mol Sci, 2021 Jan 24. PMID 33498907, Free PMC Article
    4. Dental defects in the primary dentition associated with hypophosphatasia from biallelic ALPL mutations. Kramer K, et al. Bone, 2021 Feb. PMID 33160095, Free PMC Article
    5. Tissue-nonspecific alkaline phosphatase is an anti-inflammatory nucleotidase. Bessueille L, et al. Bone, 2020 Apr. PMID 32028019, Free PMC Article

    See all (309) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cranial Neural Crest Specific Deletion of Alpl (TNAP) via P0-Cre Causes Abnormal Chondrocyte Maturation and Deficient Cranial Base Growth.
      Title: Cranial Neural Crest Specific Deletion of Alpl (TNAP) via P0-Cre Causes Abnormal Chondrocyte Maturation and Deficient Cranial Base Growth.
    2. Mitochondrial TNAP controls thermogenesis by hydrolysis of phosphocreatine.
      Title: Mitochondrial TNAP controls thermogenesis by hydrolysis of phosphocreatine.
    3. TNAP is a novel regulator of cardiac fibrosis after myocardial infarction by mediating TGF-beta/Smads and ERK1/2 signaling pathways.
      Title: TNAP is a novel regulator of cardiac fibrosis after myocardial infarction by mediating TGF-β/Smads and ERK1/2 signaling pathways.
    4. Dental defects in the primary dentition associated with hypophosphatasia from biallelic ALPL mutations.
      Title: Dental defects in the primary dentition associated with hypophosphatasia from biallelic ALPL mutations.
    5. Tissue-nonspecific alkaline phosphatase is an anti-inflammatory nucleotidase.
      Title: Tissue-nonspecific alkaline phosphatase is an anti-inflammatory nucleotidase.
    6. Tissue Nonspecific Alkaline Phosphatase Function in Bone and Muscle Progenitor Cells: Control of Mitochondrial Respiration and ATP Production.
      Title: Tissue Nonspecific Alkaline Phosphatase Function in Bone and Muscle Progenitor Cells: Control of Mitochondrial Respiration and ATP Production.
    7. Loss of tissue-nonspecific alkaline phosphatase (TNAP) enzyme activity in cerebral microvessels is coupled to persistent neuroinflammation and behavioral deficits in late sepsis.
      Title: Loss of tissue-nonspecific alkaline phosphatase (TNAP) enzyme activity in cerebral microvessels is coupled to persistent neuroinflammation and behavioral deficits in late sepsis.
    8. Systemic inhibition of tissue-nonspecific alkaline phosphatase alters the brain-immune axis in experimental sepsis.
      Title: Systemic inhibition of tissue-nonspecific alkaline phosphatase alters the brain-immune axis in experimental sepsis.
    9. Tissue-nonspecific alkaline phosphatase promotes the osteogenic differentiation of osteoprogenitor cells.
      Title: Tissue-nonspecific alkaline phosphatase promotes the osteogenic differentiation of osteoprogenitor cells.
    10. TNAP stimulates Erk1/2 activity via both phosphate dependent and independent mechanisms to promote cell cycle progression and cytokinesis in calvarial bone progenitor cells.
      Title: Tissue nonspecific alkaline phosphatase promotes calvarial progenitor cell cycle progression and cytokinesis via Erk1,2.
    Submit: New GeneRIF Correction See all GeneRIFs (45)

    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 alkaline phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables alkaline phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables alkaline phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    enables calcium ion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphoamidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphoethanolamine phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		  
    enables pyridoxal phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables pyrophosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables pyrophosphatase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables pyrophosphatase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within biomineral tissue development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in bone mineralization IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in bone mineralization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in calcium ion homeostasis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in calcium ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in calcium ion homeostasis ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    involved_in cellular homeostasis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in cellular homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cellular response to organic cyclic compound IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in dephosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within developmental process involved in reproduction IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within endochondral ossification IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in futile creatine cycle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in inhibition of non-skeletal tissue mineralization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in inhibition of non-skeletal tissue mineralization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in phosphate ion homeostasis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in phosphate ion homeostasis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in phosphate ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cold-induced thermogenesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in pyridoxal phosphate metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within response to antibiotic IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to glucocorticoid ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in response to sodium phosphate IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to sodium phosphate IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in response to sodium phosphate IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in response to vitamin B6 IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in response to vitamin B6 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in extracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in mitochondrial intermembrane space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in mitochondrial membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in side of membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001287172.2 → NP_001274101.1  alkaline phosphatase, tissue-nonspecific isozyme preproprotein

      See identical proteins and their annotated locations for NP_001274101.1

      Status: VALIDATED

      Source sequence(s)
      AL805954, AL807764
      Consensus CDS
      CCDS18821.1
      UniProtKB/Swiss-Prot
      P09242, Q6P1B0
      UniProtKB/TrEMBL
      Q8JZS4
      Conserved Domains (1) summary
      pfam00245
      Location:51 → 490
      Alk_phosphatase; Alkaline phosphatase

    2. NM_001429381.1 → NP_001416310.1  alkaline phosphatase, tissue-nonspecific isozyme preproprotein

      Status: VALIDATED

      Source sequence(s)
      AL805954, AL807764

    3. NM_007431.4 → NP_031457.2  alkaline phosphatase, tissue-nonspecific isozyme preproprotein

      See identical proteins and their annotated locations for NP_031457.2

      Status: VALIDATED

      Source sequence(s)
      AL805954, AL807764
      Consensus CDS
      CCDS18821.1
      UniProtKB/Swiss-Prot
      P09242, Q6P1B0
      UniProtKB/TrEMBL
      Q8JZS4
      Related
      ENSMUSP00000030551.5, ENSMUST00000030551.11
      Conserved Domains (1) summary
      pfam00245
      Location:51 → 490
      Alk_phosphatase; Alkaline phosphatase

    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_000070.7 Reference GRCm39 C57BL/6J

      Range
      137469042..137523695 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for XP_006538563.1

      UniProtKB/Swiss-Prot
      P09242, Q6P1B0
      UniProtKB/TrEMBL
      Q8JZS4
      Conserved Domains (1) summary
      pfam00245
      Location:51 → 490
      Alk_phosphatase; Alkaline phosphatase

    2. XM_006538498.4 → XP_006538561.1  alkaline phosphatase, tissue-nonspecific isozyme isoform X1

      See identical proteins and their annotated locations for XP_006538561.1

      UniProtKB/Swiss-Prot
      P09242, Q6P1B0
      UniProtKB/TrEMBL
      Q8JZS4
      Conserved Domains (1) summary
      pfam00245
      Location:51 → 490
      Alk_phosphatase; Alkaline phosphatase

    3. XM_006538497.3 → XP_006538560.1  alkaline phosphatase, tissue-nonspecific isozyme isoform X1

      UniProtKB/Swiss-Prot
      P09242, Q6P1B0
      UniProtKB/TrEMBL
      Q8JZS4
      Conserved Domains (1) summary
      pfam00245
      Location:51 → 490
      Alk_phosphatase; Alkaline phosphatase

    4. XM_017319924.1 → XP_017175413.1  alkaline phosphatase, tissue-nonspecific isozyme isoform X1

      UniProtKB/Swiss-Prot
      P09242, Q6P1B0
      UniProtKB/TrEMBL
      Q8JZS4
      Conserved Domains (1) summary
      pfam00245
      Location:51 → 490
      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.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P09242.2 GenPept UniProtKB/Swiss-Prot:P09242

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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