ALPL (alkaline phosphatase, biomineralization associated)

2003-05-01  

Identity

HGNC
LOCATION
1p36.12
LOCUSID
ALIAS
AP-TNAP,APTNAP,HOPS,HPPA,HPPC,HPPI,HPPO,TNALP,TNAP,TNSALP
FUSION GENES

Other Information

Locus ID:

NCBI: 249
MIM: 171760
HGNC: 438
Ensembl: ENSG00000162551

Variants:

dbSNP: 249
ClinVar: 249
TCGA: ENSG00000162551
COSMIC: ALPL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162551ENST00000374830B1ANL0
ENSG00000162551ENST00000374832P05186
ENSG00000162551ENST00000374832A0A024RAG0
ENSG00000162551ENST00000374840P05186
ENSG00000162551ENST00000374840A0A024RAG0
ENSG00000162551ENST00000539907P05186
ENSG00000162551ENST00000540617P05186

Expression (GTEx)

0
100
200
300
400
500
600

Pathways

PathwaySourceExternal ID
Thiamine metabolismKEGGko00730
Folate biosynthesisKEGGko00790
Thiamine metabolismKEGGhsa00730
Folate biosynthesisKEGGhsa00790
Metabolic pathwaysKEGGhsa01100
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Post-translational modification: synthesis of GPI-anchored proteinsREACTOMER-HSA-163125

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
189403122008Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.150
193030622009Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations.86
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
206342922010Tissue-nonspecific alkaline phosphatase promotes the neurotoxicity effect of extracellular tau.53
194235652009Association of serum alkaline phosphatase with coronary artery calcification in maintenance hemodialysis patients.48
208092792010Comprehensive association analysis of nine candidate genes with serum 25-hydroxy vitamin D levels among healthy Caucasian subjects.45
186657842008IGF-1 and IGF-binding proteins and bone mass, geometry, and strength: relation to metabolic control in adolescent girls with type 1 diabetes.38
198605462010The mesenchymal stem cell antigen MSCA-1 is identical to tissue non-specific alkaline phosphatase.37
173955612007Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene.33
234270882013In vivo overexpression of tissue-nonspecific alkaline phosphatase increases skeletal mineralization and affects the phosphorylation status of osteopontin.33

Citation

Dessen P

ALPL (alkaline phosphatase, biomineralization associated)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/623/alpl-(alkaline-phosphatase-biomineralization-associated)