Homo sapiens Gene: ALPL | |||||||||||||||||||||||||
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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 |
alkaline phosphatase, liver/bone/kidney
alkaline phosphatase, liver/bone/kidney
alkaline phosphatase, liver/bone/kidney
alkaline phosphatase, liver/bone/kidney
alkaline phosphatase, liver/bone/kidney
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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] |
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Gene Information | |||||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||||
Genomic Location | Chromosome 1:21509372-21578412 | ||||||||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||||||||
Band | p36.12 | ||||||||||||||||||||||||
Transcripts |
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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.
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Gene Ontology | |||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||||||||
NETPATH |
TNFalpha pathway
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REACTOME | |||||||||||||||||||||||||
KEGG |
Folate biosynthesis pathway
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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 | |||||||||||||||||||||||||