Version 5.4
Mus musculus Gene: Alpl
Summary
InnateDB Gene IDBG-199139.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Alpl
Gene Name alkaline phosphatase, liver/bone/kidney
Synonyms Akp-2; Akp2; APTNAP; TNAP; TNSALP
Species Mus musculus
Ensembl Gene ENSMUSG00000028766
Encoded Proteins
IDBP-199141
alkaline phosphatase, liver/bone/kidney
IDBP-537522
alkaline phosphatase, liver/bone/kidney
IDBP-539380
alkaline phosphatase, liver/bone/kidney
IDBP-539265
alkaline phosphatase, liver/bone/kidney
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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, one of which has been demonstrated to be differentially expressed (PMID 1930180). [provided by RefSeq, Dec 2013]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:137741733-137796384
Strand Reverse strand
Band D3
Transcripts
ENSMUST00000030551 ENSMUSP00000030551
ENSMUST00000141451
ENSMUST00000139951 ENSMUSP00000125041
ENSMUST00000153588 ENSMUSP00000116308
ENSMUST00000133473 ENSMUSP00000121548
ENSMUST00000138463
ENSMUST00000133566
ENSMUST00000143757
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 11 [view]
Protein-Protein 3 [view]
Protein-DNA 8 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0004035 alkaline phosphatase activity
GO:0005515 protein binding
GO:0016462 pyrophosphatase activity
GO:0016791 phosphatase activity
GO:0046872 metal ion binding
Biological Process
GO:0001649 osteoblast differentiation
GO:0001958 endochondral ossification
GO:0003006 developmental process involved in reproduction
GO:0008152 metabolic process
GO:0016311 dephosphorylation
GO:0032496 response to lipopolysaccharide
GO:0033280 response to vitamin D
GO:0046677 response to antibiotic
GO:0051384 response to glucocorticoid
GO:0071407 cellular response to organic cyclic compound
GO:0071529 cementum mineralization
Cellular Component
GO:0005615 extracellular space
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0031012 extracellular matrix
GO:0031225 anchored component of membrane
GO:0065010 extracellular membrane-bounded organelle
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000162551
View Gene Order
ENSBTAG00000008951
Not yet available
Pathways
NETPATH
REACTOME
KEGG
mmu00790
Folate biosynthesis pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
NetPath_9
TNFalpha pathway
REACTOME
KEGG
hsa00790
Folate biosynthesis pathway
INOH
PID NCI
Cross-References
SwissProt P09242
TrEMBL B1AXF5 B1AXF6 E9Q7P8
UniProt Splice Variant
Entrez Gene 11647
UniGene Mm.288186 Mm.456447
RefSeq NM_001287172 NM_001287176 NM_007431 XM_006538497 XM_006538498 XM_006538499 XM_006538500 XM_006538501
OMIM
CCDS CCDS18821
HPRD
IMGT
MGI ID MGI:87983
MGI Symbol Alpl
EMBL AK161780 AK167023 AL805954 AL807764 BC065175 J02980 M54798
GenPept AAA37217 AAA39928 AAH65175 BAE36569 BAE39196 CAM19406 CAM23370
RNA Seq Atlas 11647

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca