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

Gene ID: 11647, updated on 21-May-2024

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 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
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Genomic context

See Alpl in Genome Data Viewer
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

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 Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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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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_001287172.2NP_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:51490
    Alk_phosphatase; Alkaline phosphatase
  2. NM_001429381.1NP_001416310.1  alkaline phosphatase, tissue-nonspecific isozyme preproprotein

    Status: VALIDATED

    Source sequence(s)
    AL805954, AL807764
  3. NM_007431.4NP_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:51490
    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_006538500.2XP_006538563.1  alkaline phosphatase, tissue-nonspecific isozyme isoform X1

    See identical proteins and their annotated locations for XP_006538563.1

    UniProtKB/Swiss-Prot
    P09242, Q6P1B0
    UniProtKB/TrEMBL
    Q8JZS4
    Conserved Domains (1) summary
    pfam00245
    Location:51490
    Alk_phosphatase; Alkaline phosphatase
  2. XM_006538498.4XP_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:51490
    Alk_phosphatase; Alkaline phosphatase
  3. XM_006538497.3XP_006538560.1  alkaline phosphatase, tissue-nonspecific isozyme isoform X1

    UniProtKB/Swiss-Prot
    P09242, Q6P1B0
    UniProtKB/TrEMBL
    Q8JZS4
    Conserved Domains (1) summary
    pfam00245
    Location:51490
    Alk_phosphatase; Alkaline phosphatase
  4. XM_017319924.1XP_017175413.1  alkaline phosphatase, tissue-nonspecific isozyme isoform X1

    UniProtKB/Swiss-Prot
    P09242, Q6P1B0
    UniProtKB/TrEMBL
    Q8JZS4
    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.