Alpl
Gene Detail

Symbol

Name
ID

Alpl
alkaline phosphatase, liver/bone/kidney
MGI:87983

Synonyms

Akp2, Akp-2, TNAP, TNSALP

Feature Type

protein coding gene

Genetic Map

Chromosome 4
70.02 cM
Detailed Genetic Map ± 1 cM


Mapping data(46)

Sequence Map

Chr4:137741733-137796384 bp, - strand From VEGA annotation of GRCm38   54652 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate
homology

HomoloGene:37314  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: alkaline phosphatase
Gene Tree: Alpl

Human
homologs

Human Homolog		ALPL, alkaline phosphatase, liver/bone/kidney
NCBI Gene ID		249
neXtProt AC		NX_P05186
Human Synonyms		APTNAP, AP-TNAP, HOPS, TNAP, TNSALP
Human Chr (Location)		1p36.12; chr1:21508982-21578412 (+)  GRCh38
Disease Associations		(3) Diseases Associated with Human ALPL

Mutations,
alleles, and
phenotypes

All mutations/alleles(410) : Chemically induced (ENU)(8) Gene trapped(395) Targeted(7)
Genomic Mutations involving Alpl (1)
Incidental mutations (data from Mutagenetix , APF )
 

Males hemizygous for a null mutation exhibit reduced body size, shortened hindlimbs and tail, osteomalacia, and markedly reduced plasma phosphate levels due to impaired kidney reabsorption. Female heterozygotes exhibit milder symptoms.

 
Human Diseases Modeled in Mice Using Alpl (3)    Mutations Annotated to Human Diseases (8)   

Interactions

Alpl interacts with 120 markers (Mir1a-1, Mir1a-2, Mir1b, ...)

View All

Gene Ontology
(GO)
classifications

All GO classifications: (27 annotations)

Process	cellular response to organic cyclic compound, dephosphorylation, ...
Component	anchored component of membrane, extracellular membrane-bounded organelle, ...
Function	alkaline phosphatase activity, catalytic activity, ...

External Resources: FuncBase

Expression

Literature Summary: (35 records)

Data Summary: Results (270)    Tissues (137)    Images (33)    Tissue x Stage Matrix (view)

Assay Type	Results
RNA in situ	218
RT-PCR	52

cDNA source data(144)
External Resources: Allen Institute   GEO   Expression Atlas

Molecular
reagents

All nucleic(167) Genomic(12) cDNA(145) Primer pair(6) Other(4)
Microarray probesets(3)

Other database
links

VEGA Gene Model	OTTMUSG00000009805 (Evidence)
Ensembl Gene Model	ENSMUSG00000028766 (Evidence)
Entrez Gene	11647 (Evidence)
UniGene	288186
DFCI	TC1574718, TC1622456
DoTS	DT.101391029, DT.110806791, DT.94345273, DT.94407342
NIA Mouse Gene Index	U025683
EC	3.1.3.1
Consensus CDS Project	CCDS18821.1
International Mouse Knockout Project Status	Alpl

Sequences

Length	Strain/Species
genomic	OTTMUSG00000009805	VEGA Gene Model | MGI Sequence Detail	54652	C57BL/6J
transcript	OTTMUST00000022726	VEGA | MGI Sequence Detail	2522	Not Applicable
polypeptide	OTTMUSP00000010372	VEGA | MGI Sequence Detail	524	Not Applicable

All sequences(74) RefSeq(14) UniProt(8)

Polymorphisms

RFLP(5) : SNPs within 2kb(724 from dbSNP Build 137)

Protein-related
information

Resource	ID	Description
InterPro	IPR001952	Alkaline phosphatase
InterPro	IPR018299	Alkaline phosphatase, active site
InterPro	IPR017849	Alkaline phosphatase-like, alpha/beta/alpha
InterPro	IPR017850	Alkaline-phosphatase-like, core domain
Protein Ontology	PR:000003968	alkaline phosphatase, tissue-nonspecific isozyme

References

(Earliest) J:4470 Wilcox FH, et al., Genetic variation in alkaline phosphatase isozymes in liver of the house mouse. Genetics. 1976;83:s82
(Latest) J:215631 Liu J, et al., Tissue-nonspecific alkaline phosphatase deficiency causes abnormal craniofacial bone development in the Alpl(-/-) mouse model of infantile hypophosphatasia. Bone. 2014 Oct;67:81-94
All references(192)
Disease annotation references (4)

Other
accession IDs

MGD-MRK-1249, MGD-MRK-1254