Alpl alkaline phosphatase, liver/bone/kidney [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Alplprovided by MGI
Official Full Name: alkaline phosphatase, liver/bone/kidneyprovided by MGI
Primary source: MGI:MGI:87983
See related: Ensembl:ENSMUSG00000028766 AllianceGenome:MGI:87983
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ALP; Akp2; TNAP; Akp-2; APTNAP; TNSALP
Summary: 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. [provided by RefSeq, Aug 2015]
Expression: Biased expression in kidney adult (RPKM 145.9), genital fat pad adult (RPKM 29.1) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 D3; 4 70.02 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (137469042..137523695, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (137741731..137796384, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cranial Neural Crest Specific Deletion of Alpl (TNAP) via P0-Cre Causes Abnormal Chondrocyte Maturation and Deficient Cranial Base Growth.
Title: Cranial Neural Crest Specific Deletion of Alpl (TNAP) via P0-Cre Causes Abnormal Chondrocyte Maturation and Deficient Cranial Base Growth.
Mitochondrial TNAP controls thermogenesis by hydrolysis of phosphocreatine.
Title: Mitochondrial TNAP controls thermogenesis by hydrolysis of phosphocreatine.
TNAP is a novel regulator of cardiac fibrosis after myocardial infarction by mediating TGF-beta/Smads and ERK1/2 signaling pathways.
Title: TNAP is a novel regulator of cardiac fibrosis after myocardial infarction by mediating TGF-β/Smads and ERK1/2 signaling pathways.
Dental defects in the primary dentition associated with hypophosphatasia from biallelic ALPL mutations.
Title: Dental defects in the primary dentition associated with hypophosphatasia from biallelic ALPL mutations.
Tissue-nonspecific alkaline phosphatase is an anti-inflammatory nucleotidase.
Title: Tissue-nonspecific alkaline phosphatase is an anti-inflammatory nucleotidase.
Tissue Nonspecific Alkaline Phosphatase Function in Bone and Muscle Progenitor Cells: Control of Mitochondrial Respiration and ATP Production.
Title: Tissue Nonspecific Alkaline Phosphatase Function in Bone and Muscle Progenitor Cells: Control of Mitochondrial Respiration and ATP Production.
Loss of tissue-nonspecific alkaline phosphatase (TNAP) enzyme activity in cerebral microvessels is coupled to persistent neuroinflammation and behavioral deficits in late sepsis.
Title: Loss of tissue-nonspecific alkaline phosphatase (TNAP) enzyme activity in cerebral microvessels is coupled to persistent neuroinflammation and behavioral deficits in late sepsis.
Systemic inhibition of tissue-nonspecific alkaline phosphatase alters the brain-immune axis in experimental sepsis.
Title: Systemic inhibition of tissue-nonspecific alkaline phosphatase alters the brain-immune axis in experimental sepsis.
Tissue-nonspecific alkaline phosphatase promotes the osteogenic differentiation of osteoprogenitor cells.
Title: Tissue-nonspecific alkaline phosphatase promotes the osteogenic differentiation of osteoprogenitor cells.
TNAP stimulates Erk1/2 activity via both phosphate dependent and independent mechanisms to promote cell cycle progression and cytokinesis in calvarial bone progenitor cells.
Title: Tissue nonspecific alkaline phosphatase promotes calvarial progenitor cell cycle progression and cytokinesis via Erk1,2.

Submit: New GeneRIF Correction See all GeneRIFs (45)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (8) 1 citation
Endonuclease-mediated (3)
Targeted (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Akp2 (e-PCR), detects polymorphism
- UniSTS:141061

Akp2 (e-PCR), detects polymorphism
- UniSTS:141062

Akp2 (e-PCR), detects polymorphism
- UniSTS:141063

Alpl (e-PCR), detects polymorphism
- UniSTS:526003

UniSTS:498363 (e-PCR)
- UniSTS:498363

Akp2 (e-PCR), detects polymorphism
- UniSTS:498363

Akp2 (e-PCR), detects polymorphism
- UniSTS:498419

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ADP phosphatase activity	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent H2AZ histone chaperone activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent H3-H4 histone complex chaperone activity	IEA Inferred from Electronic Annotation more info
enables DNA clamp loader activity	IEA Inferred from Electronic Annotation more info
enables alkaline phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables alkaline phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables alkaline phosphatase activity	ISO Inferred from Sequence Orthology more info	PubMed
enables calcium ion binding	ISO Inferred from Sequence Orthology more info
enables calcium ion binding	ISS Inferred from Sequence or Structural Similarity more info
enables chromatin extrusion motor activity	IEA Inferred from Electronic Annotation more info
enables cohesin loader activity	IEA Inferred from Electronic Annotation more info
enables inorganic diphosphate phosphatase activity	IEA Inferred from Electronic Annotation more info
enables phosphoamidase activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphoethanolamine phosphatase activity	IEA Inferred from Electronic Annotation more info
enables phosphoethanolamine phosphatase activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info
enables pyridoxal phosphatase activity	ISO Inferred from Sequence Orthology more info
enables pyridoxal phosphatase activity	ISS Inferred from Sequence or Structural Similarity more info
enables pyrophosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables pyrophosphatase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables pyrophosphatase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in biomineral tissue development	IBA Inferred from Biological aspect of Ancestor more info
involved_in bone mineralization	IGI Inferred from Genetic Interaction more info	PubMed
involved_in bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in calcium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcium ion homeostasis	ISO Inferred from Sequence Orthology more info	PubMed
involved_in cellular homeostasis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cellular homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular response to organic cyclic compound	IDA Inferred from Direct Assay more info	PubMed
involved_in cementum mineralization	IEA Inferred from Electronic Annotation more info
involved_in chromatin looping	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within developmental process involved in reproduction	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within endochondral ossification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in futile creatine cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in inhibition of non-skeletal tissue mineralization	IDA Inferred from Direct Assay more info	PubMed
involved_in inhibition of non-skeletal tissue mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phosphate ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in phosphate ion homeostasis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in phosphate ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cold-induced thermogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in pyridoxal phosphate metabolic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within response to antibiotic	IDA Inferred from Direct Assay more info	PubMed
involved_in response to glucocorticoid	IEA Inferred from Electronic Annotation more info
involved_in response to glucocorticoid	ISO Inferred from Sequence Orthology more info
involved_in response to insulin	IEA Inferred from Electronic Annotation more info
involved_in response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
involved_in response to macrophage colony-stimulating factor	IEA Inferred from Electronic Annotation more info
involved_in response to sodium phosphate	IDA Inferred from Direct Assay more info	PubMed
involved_in response to sodium phosphate	IGI Inferred from Genetic Interaction more info	PubMed
involved_in response to sodium phosphate	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to vitamin B6	IGI Inferred from Genetic Interaction more info	PubMed
involved_in response to vitamin B6	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to vitamin D	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info	PubMed
is_active_in extracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in extracellular space	IEA Inferred from Electronic Annotation more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
is_active_in mitochondrial intermembrane space	IDA Inferred from Direct Assay more info	PubMed
is_active_in mitochondrial membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in side of membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: alkaline phosphatase, tissue-nonspecific isozyme

Names: alkaline phosphatase 2, liver; phosphoamidase; phosphocreatine phosphatase

NP_001274101.1

EC 3.1.3.1

EC 3.9.1.1

NP_031457.2

EC 3.1.3.1

EC 3.9.1.1

XP_006538560.1

EC 3.1.3.1

EC 3.9.1.1

XP_006538561.1

EC 3.1.3.1

EC 3.9.1.1

XP_006538563.1

EC 3.1.3.1

EC 3.9.1.1

XP_017175413.1

EC 3.1.3.1

EC 3.9.1.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001287172.2 → NP_001274101.1 alkaline phosphatase, tissue-nonspecific isozyme preproprotein

See identical proteins and their annotated locations for NP_001274101.1

Status: VALIDATED

Source sequence(s)

AL805954, AL807764

Consensus CDS

CCDS18821.1

UniProtKB/Swiss-Prot

P09242, Q6P1B0

UniProtKB/TrEMBL

Q8JZS4

Conserved Domains (1) summary

pfam00245
Location:51 → 490

Alk_phosphatase; Alkaline phosphatase
NM_001429381.1 → NP_001416310.1 alkaline phosphatase, tissue-nonspecific isozyme preproprotein

Status: VALIDATED

Source sequence(s)

AL805954, AL807764

UniProtKB/Swiss-Prot

P09242, Q6P1B0
NM_007431.4 → NP_031457.2 alkaline phosphatase, tissue-nonspecific isozyme preproprotein

See identical proteins and their annotated locations for NP_031457.2

Status: VALIDATED

Source sequence(s)

AL805954, AL807764

Consensus CDS

CCDS18821.1

UniProtKB/Swiss-Prot

P09242, Q6P1B0

UniProtKB/TrEMBL

Q8JZS4

Related

ENSMUSP00000030551.5, ENSMUST00000030551.11

Conserved Domains (1) summary

pfam00245
Location:51 → 490

Alk_phosphatase; Alkaline phosphatase

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

137469042..137523695 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006538500.2 → XP_006538563.1 alkaline phosphatase, tissue-nonspecific isozyme isoform X1

See identical proteins and their annotated locations for XP_006538563.1

UniProtKB/Swiss-Prot

P09242, Q6P1B0

UniProtKB/TrEMBL

Q8JZS4

Conserved Domains (1) summary

pfam00245
Location:51 → 490

Alk_phosphatase; Alkaline phosphatase
XM_006538498.4 → XP_006538561.1 alkaline phosphatase, tissue-nonspecific isozyme isoform X1

See identical proteins and their annotated locations for XP_006538561.1

UniProtKB/Swiss-Prot

P09242, Q6P1B0

UniProtKB/TrEMBL

Q8JZS4

Conserved Domains (1) summary

pfam00245
Location:51 → 490

Alk_phosphatase; Alkaline phosphatase
XM_006538497.3 → XP_006538560.1 alkaline phosphatase, tissue-nonspecific isozyme isoform X1

Conserved Domains (1) summary

pfam00245
Location:51 → 490

Alk_phosphatase; Alkaline phosphatase
XM_017319924.1 → XP_017175413.1 alkaline phosphatase, tissue-nonspecific isozyme isoform X1

UniProtKB/Swiss-Prot

P09242, Q6P1B0

UniProtKB/TrEMBL

Q8JZS4

Conserved Domains (1) summary

pfam00245
Location:51 → 490

Alk_phosphatase; Alkaline phosphatase

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001287176.1: Suppressed sequence

Description

NM_001287176.1: This RefSeq was removed because currently there is not sufficient data to support this transcript.