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

Gene ID: 11647, updated on 11-Sep-2018

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 Vega:OTTMUSG00000009805
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 
metabolic process IEA
Inferred from Electronic Annotation
more info
 
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, OTTMUSP00000010372, ENSMUST00000030551.10, OTTMUST00000022726
    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.
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