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 Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. The exact physiological function of the alkaline phosphatases is not known. A proposed function of this form of the enzyme is matrix mineralization; however, mice that lack a functional form of this enzyme show normal skeletal development. This enzyme has been linked directly to hypophosphatasia, a disorder that is characterized by hypercalcemia and includes skeletal defects. The character of this disorder can vary, however, depending on the specific mutation since this determines age of onset and severity of symptoms. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Alpl
  • participates in the following biological processes:
    • cellular response to organic cyclic compound ^[1]
    • dephosphorylation ^{[3, 6, 7]}
    • response to antibiotic ^[4]
  • performs the following molecular functions:
    • alkaline phosphatase activity ^{[3, 6, 7]}
  • is located in the following cellular components:
    • extracellular matrix part ^[2]
    • plasma membrane ^{[3, 7]}
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Alpl
  • participates in the following biological processes:
    • endochondral ossification ^[8]
  • performs the following molecular functions:
    • pyrophosphatase activity ^[2]
• Researchers have inferred, based on genetic interactions, that the gene product of Alpl
  • participates in the following biological processes:
    • developmental process involved in reproduction based on interactions with Dmrt1 ^[5]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Alpl:
  • participates in the following biological processes:
    • dephosphorylation
    • response to glucocorticoid stimulus
  • performs the following molecular functions:
    • alkaline phosphatase activity
    • pyrophosphatase activity
  • is located in the following cellular components:
    • extracellular space
    • plasma membrane

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Summary text based on GO annotations supported by structural data

• Alpl encodes a protein or proteins that contain the following InterPro domains: Alkaline phosphatase, Alkaline phosphatase, active site, Alkaline phosphatase-like, alpha/beta/alpha, Alkaline-phosphatase-like, core domain, indicating that the gene product:
  • participates in the following biological processes:
    • metabolic process
  • performs the following molecular functions:
    • catalytic activity
    • phosphatase activity

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Alpl indicates that it:
  • performs the following molecular functions:
    • hydrolase activity
    • metal ion binding
  • is located in the following cellular components:
    • anchored to membrane
    • membrane

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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. Narisawa S et al. (1994) Stage-specific expression of alkaline phosphatase during neural development in the mouse. Dev Dyn, 201:227-35. (PubMed:7533563)
8. 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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