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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 dog; 1 chicken; 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(409) : Chemically induced (ENU)(8) Gene trapped(395) Targeted(6)
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 Using Mouse Alpl (3)    Alleles Annotated to Human Diseases(8)   
Interactions
Alpl interacts with 120 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (27 annotations)
Process cellular response to organic cyclic compound, dephosphorylation, ...
Component anchored component of membrane, extracellular matrix, ...
Function alkaline phosphatase activity, catalytic activity, ...
External Resources: FuncBase
Expression
Literature Summary: (32 records)
Data Summary: Results (273)    Tissues (140)    Images (33)
Theiler Stages: 2, 3, 4, 11, 12, 13, 15, 17, 19, 20, 21, 22, 23, 28
Assay TypeResults
RNA in situ 218
RT-PCR 55
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 ModelOTTMUSG00000009805 (Evidence)
Ensembl Gene ModelENSMUSG00000028766 (Evidence)
Entrez Gene11647 (Evidence)
UniGene288186
DFCITC1574718, TC1622456
DoTSDT.101391029, DT.110806791, DT.94345273, DT.94407342
NIA Mouse Gene IndexU025683
EC3.1.3.1
Consensus CDS ProjectCCDS18821.1
International Mouse Knockout Project StatusAlpl
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000009805 VEGA Gene Model | MGI Sequence Detail 54652 C57BL/6J ±  kb
transcript OTTMUST00000022726 VEGA | MGI Sequence Detail 2522 Not Applicable 
polypeptide OTTMUSP00000010372 VEGA | MGI Sequence Detail 524 Not Applicable 

For the selected sequences
All sequences(76) RefSeq(16) UniProt(8)
Polymorphisms RFLP(5) : SNPs within 2kb(724 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
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:210656 Chakraborty P, et al., Androgen-dependent sertoli cell tight junction remodeling is mediated by multiple tight junction components. Mol Endocrinol. 2014 Jul;28(7):1055-72
All references(185)
Disease annotation references (4)
Other
accession IDs
MGD-MRK-1249, MGD-MRK-1254

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/23/2014
MGI 5.19
The Jackson Laboratory