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Gene Ontology Classifications
Symbol
Name
ID
Alpl
alkaline phosphatase, liver/bone/kidney
MGI:87983

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Alpl. (This text reflects annotations as of Thursday, July 24, 2014.)
Summary from NCBI RefSeq


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]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
References
  1. Bennett CN et al. (2005) Regulation of osteoblastogenesis and bone mass by Wnt10b. Proc Natl Acad Sci U S A, 102:3324-9. (PubMed:15728361)
  2. Ciancaglini P et al. (2010) Kinetic analysis of substrate utilization by native and TNAP-, NPP1-, or PHOSPHO1-deficient matrix vesicles. J Bone Miner Res, 25:716-23. (PubMed:19874193)
  3. Garver WS et al. (2000) Localization of the murine Niemann-Pick C1 protein to two distinct intracellular compartments. J Lipid Res, 41:673-87. (PubMed:10787428)
  4. Hahnel AC et al. (1990) Two alkaline phosphatase genes are expressed during early development in the mouse embryo. Development, 110:555-64. (PubMed:2133555)
  5. Kim S et al. (2007) Cell type-autonomous and non-autonomous requirements for Dmrt1 in postnatal testis differentiation. Dev Biol, 307:314-27. (PubMed:17540358)
  6. Langer D et al. (2007) The ectonucleotidases alkaline phosphatase and nucleoside triphosphate diphosphohydrolase 2 are associated with subsets of progenitor cell populations in the mouse embryonic, postnatal and adult neurogenic zones. Neuroscience, 150:863-79. (PubMed:18031938)
  7. Lo JC et al. (2012) RAB-like 2 has an essential role in male fertility, sperm intra-flagellar transport, and tail assembly. PLoS Genet, 8:e1002969. (PubMed:23055941)
  8. Narisawa S et al. (1994) Stage-specific expression of alkaline phosphatase during neural development in the mouse. Dev Dyn, 201:227-35. (PubMed:7533563)
  9. Yadav MC et al. (2011) Loss of skeletal mineralization by the simultaneous ablation of PHOSPHO1 and alkaline phosphatase function: a unified model of the mechanisms of initiation of skeletal calcification. J Bone Miner Res, 26:286-97. (PubMed:20684022)



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Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IMP Inferred from mutant phenotype
  IPI Inferred from physical interaction
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
10/08/2014
MGI 5.20
The Jackson Laboratory