Version 5.4
Homo sapiens Gene: ALPL
Summary
InnateDB Gene IDBG-93194.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ALPL
Gene Name alkaline phosphatase, liver/bone/kidney
Synonyms AP-TNAP; APTNAP; HOPS; TNAP; TNSALP
Species Homo sapiens
Ensembl Gene ENSG00000162551
Encoded Proteins
IDBP-93196
alkaline phosphatase, liver/bone/kidney
IDBP-93198
alkaline phosphatase, liver/bone/kidney
IDBP-93200
alkaline phosphatase, liver/bone/kidney
IDBP-585147
alkaline phosphatase, liver/bone/kidney
IDBP-591875
alkaline phosphatase, liver/bone/kidney
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:21509372-21578412
Strand Forward strand
Band p36.12
Transcripts
ENST00000374840 ENSP00000363973
ENST00000374832 ENSP00000363965
ENST00000374830 ENSP00000363963
ENST00000374829
ENST00000468526
ENST00000539907 ENSP00000437674
ENST00000540617 ENSP00000442672
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 8 interaction(s) predicted by orthology.
Experimentally validated
Total 11 [view]
Protein-Protein 11 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 8 [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:0001501 skeletal system development
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:0016021 integral component of membrane
GO:0031012 extracellular matrix
GO:0031225 anchored component of membrane
GO:0065010 extracellular membrane-bounded organelle
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000028766
View Gene Order
ENSBTAG00000008951
Not yet available
Pathways
NETPATH
NetPath_9
TNFalpha pathway
REACTOME
KEGG
hsa00790
Folate biosynthesis pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.75431
RefSeq NM_000478 NM_001127501 NM_001177520 XM_005245818 XM_006710546
HUGO
OMIM
CCDS CCDS217 CCDS53274 CCDS53275
HPRD 01377
IMGT
EMBL
GenPept
RNA Seq Atlas

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