ALPL

GENE INFORMATION

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Gene name

ALPL (HGNC Symbol)

Synonyms

HOPS, TNSALP

Description

alkaline phosphatase, liver/bone/kidney (HGNC Symbol)

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]

Chromosome

1 (Chromosome progress)

Cytoband

p36.12

Chromosome location (bp)

21835858 - 21904905

Ensembl

ENSG00000162551 (version 73.37)

Entrez gene

249

UniProt

P05186 (UniProt - Evidence at protein level)

neXtProt

NX_P05186

Antibodypedia

ALPL antibodies
 

PROTEIN VIEW

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ALPL-001
 
ALPL-002
 
ALPL-003
 
ALPL-004
 
ALPL-201
 
ALPL-202
 
ALPL-203
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ALPL-001 ENSP00000363973
ENST00000374840
P05186
Show all »
Show » Show » 524 57.3 Yes 0
ALPL-002 ENSP00000363965
ENST00000374832
P05186
Show all »
Show » Show » 524 57.3 Yes 0
ALPL-003 ENSP00000363962
ENST00000374829
B1ANL0
Show all »
Show » Show » 170 17.8 No 0
ALPL-004 ENSP00000363963
ENST00000374830
B1ANL0
Show all »
Show » Show » 170 17.8 No 0
ALPL-201 ENSP00000394765
ENST00000425315
P05186
Show all »
Show » Show » 524 57.3 Yes 0
ALPL-202 ENSP00000437674
ENST00000539907
P05186
Show all »
Show » Show » 447 48.9 No 1
ALPL-203 ENSP00000442672
ENST00000540617
P05186
Show all »
Show » Show » 469 51 No 0