ALPL (alkaline phosphatase, biomineralization associated)

2003-05-01  

Identity

HGNC
ALPL
LOCATION
1p36.12
LOCUSID
249
ALIAS
AP-TNAP,APTNAP,HOPS,HPPA,HPPC,HPPI,HPPO,TNALP,TNAP,TNSALP
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
364443962023Not just a carrier: Clinical presentation and management of patients with heterozygous disease-causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening.1
367928312023Early elevated alkaline phosphatase as a surrogate biomarker of ongoing metabolic bone disease of prematurity.3
371920152023Promotion effect of FGF23 on osteopenia in congenital scoliosis through FGFr3/TNAP/OPN pathway.2
372774512023Association between changes in serum alkaline phosphatase levels and radiographic progression in ankylosing spondylitis.0
373516502023Musculoskeletal pain and muscular weakness as the main symptoms of adult hypophosphatasia in a Spanish cohort: clinical characterization and identification of a new ALPL gene variant.2
382344252023Systemic effects of hypophosphatasia characterization of two novel variants in the ALPL gene.0
364443962023Not just a carrier: Clinical presentation and management of patients with heterozygous disease-causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening.1
367928312023Early elevated alkaline phosphatase as a surrogate biomarker of ongoing metabolic bone disease of prematurity.3
371920152023Promotion effect of FGF23 on osteopenia in congenital scoliosis through FGFr3/TNAP/OPN pathway.2
372774512023Association between changes in serum alkaline phosphatase levels and radiographic progression in ankylosing spondylitis.0
373516502023Musculoskeletal pain and muscular weakness as the main symptoms of adult hypophosphatasia in a Spanish cohort: clinical characterization and identification of a new ALPL gene variant.2
382344252023Systemic effects of hypophosphatasia characterization of two novel variants in the ALPL gene.0
342137432022Clinical, biochemical and genetic findings in adult patients with chronic hypophosphatasemia.3
344480002022Expression of the Adipocyte Progenitor Markers MSCA1 and CD36 is Associated With Adipose Tissue Function in Children.5
349359512022ALPL Genotypes in Patients With Atypical Femur Fractures or Other Biochemical and Clinical Signs of Hypophosphatasia.2

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)