ALPL - alkaline phosphatase, biomineralization associated Gene

Also Known as HOPS; HPPA; HPPC; HPPI; HPPO; TNAP; TNALP; APTNAP; TNSALP; AP-TNAP; TNS-ALP

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 249

About ALPL

Cytogenetic location: 1p36.12 Genomic coordinates (GRCh38): 1:21,508,984-21,578,410 (from NCBI)

This gene has 7 transcripts (splice variants), 227 orthologues, 3 paralogues and is associated with 10 phenotypes. Broad expression in kidney (RPKM 33.8), lung (RPKM 30.4) and 14 other tissues.

Summary

This gene encodes a member of the Alkaline Phosphatase family of proteins. There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme may play a role in bone mineralization. Mutations in this gene have been linked to hypophosphatasia, a disorder that is characterized by hypercalcemia and skeletal defects. [provided by RefSeq, Oct 2015]

ALPL Products (6)

mRNA	Protein	Name
NM_000478.6	NP_000469.3	alkaline phosphatase, tissue-nonspecific isozyme isoform 1 preproprotein
NM_001127501.4	NP_001120973.2	alkaline phosphatase, tissue-nonspecific isozyme isoform 2
NM_001177520.3	NP_001170991.1	alkaline phosphatase, tissue-nonspecific isozyme isoform 3
NM_001369803.2	NP_001356732.1	alkaline phosphatase, tissue-nonspecific isozyme isoform 1 preproprotein
NM_001369804.2	NP_001356733.1	alkaline phosphatase, tissue-nonspecific isozyme isoform 1 preproprotein
NM_001369805.2	NP_001356734.1	alkaline phosphatase, tissue-nonspecific isozyme isoform 1 preproprotein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables alkaline phosphatase activity	IDA IDA: Inferred from direct assay	12162492	GOA
enables calcium ion binding	IDA IDA: Inferred from direct assay	11395499	GOA
enables phosphoethanolamine phosphatase activity	IDA IDA: Inferred from direct assay	2220817	GOA
enables pyridoxal phosphatase activity	IDA IDA: Inferred from direct assay	2220817	GOA
enables pyrophosphatase activity	IDA IDA: Inferred from direct assay	12162492	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in calcium ion homeostasis	IDA IDA: Inferred from direct assay	28592560	GOA
involved in response to vitamin D	IEP IEP: Inferred from expression pattern	17023519	GOA

Cellular Component GO Annotation	Evidence	Références	Source
is active in plasma membrane	IDA IDA: Inferred from direct assay	2220817	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ALPL Protein Structure

Alk_phosphatase

0
100
200
300
400
500
524 a.a.

Protein Preferred Names	Protein Names
alkaline phosphatase, tissue-nonspecific isozyme	alkaline phosphatase liver/bone/kidney isozyme

Recombinant ALPL Proteins

Cat. No.	Nom du produit	Accession	Pureté
HY-P7880	Alkaline Phosphatase/ALPL Protein, Human (HEK293, His)	P05186 (L18-S502)	≥ 95%, as determined by reducing SDS-PAGE.

ALPL Anticorps

Cat. No.	Nom du produit	Application	Reactivity
HY-P80012	Alkaline Phosphatase Antibody (YA629)	WB, IHC-P, IF-Tissue	Human, Mouse
HY-P83957	Alkaline phosphatase Antibody (YA3654)	WB, IHC-P, FC, ELISA	Human, Mouse, Rat, Rabbit
HY-P83957A	Alkaline phosphatase Antibody (YA3654)(PBS only)	WB, IHC-P, FC, ELISA	Human, Mouse, Rat, Rabbit
HY-P86653	Alkaline phosphatase Antibody (YA6345)	WB	Human, Mouse, Rat
HY-P86653A	Alkaline phosphatase Antibody (YA6345)(PBS only)	WB	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Hypophosphatasia, Infantile	Infantile Hypophosphatasia HPPI Hops Phosphoethanolaminuria Perinatal Lethal Hypophosphatasia Perinatal Lethal Rathbun Disease Perinatal Lethal Phosphoethanolaminuria Infantile Rathbun Disease Infantile Phosphoethanolaminuria Hypophosphatasia, Perinatal Lethal
Hypophosphatasia, Childhood	Childhood Hypophosphatasia Childhood-Onset Hypophosphatasia HPPC Childhood-Onset Phosphoethanolaminuria Childhood-Onset Rathburn Disease Childhood-Onset Rathbun Disease
Hypophosphatasia, Adult	Adult Hypophosphatasia Odontohypophosphatasia Hypophosphatasia, Mild HPPA Hypophosphatasia Mild Hypophosphatasia Adult Rathbun Disease Adult Phosphoethanolaminuria HOPS
Hypophosphatasia	Phosphoethanolaminuria Childhood Hypophosphatasia Deficiency Of Alkaline Phosphatase Hypophospatasia, Childhood Hypophosphatasia Mild Phosphoethanol-Aminuria Rathburn Disease Hpp Rathbun Disease Hypophosphatasia, Childhood Infantile Hypophosphatasia
Prenatal Benign Hypophosphatasia	Prenatal Benign Rathbun Disease Prenatal Benign Phosphoethanolaminuria
Primary Bone Dysplasia	Primary Osteodysplasia Primary Skeletal Dysplasia
Brittle Bone Disorder	Osteogenesis Imperfecta Brittle Bone Disease Fragilitas Ossium Osteopsathyrosis Lobstein Disease Oi Vrolik Disease Lobstein'S Disease Lobstein'S Syndrome Vrolik'S Disease Porak And Durante Disease Glass Bone Disease Osteogenesis Imperfecta, Dominant Perinatal Lethal Osteogenesis Imperfecta, Recessive Perinatal Lethal Brittle Bone Syndrome Oi - [Osteogenesis Imperfecta] Ossium Fragility Osteitis Fragilitans Bony Fragility Blue Sclera With Fragility Of Bone And Deafness White Blue Sclera - Fragility Of Bone - Deafness
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Osteomalacia	Adult Rickets
Rickets	Vitamin D Deficiency Vitamin D Active Rickets Hypovitaminosis D Nutritional Rickets Vitamin D Deficiency Disease Vitamin-D Deficiency Rickets Vitamin D-Dependent Rickets Avitaminosis D Infantile Osteomalacia Juvenile Osteomalacia
Bone Disease	Bone Diseases Skeletal Disease Skeletal Disorder Disorder Of Skeletal System
Chondrocalcinosis	Pseudogout Calcium Pyrophosphate Deposition Disease Familial Chondrocalcinosis Chondrocalcinosis Nos Cppd - [Calcium Pyrophosphate Deposition Disease] Cpdd - [Calcium Pyrophosphate Deposition Disease] Chondrocalcinosis, Due To Pyrophosphate Crystals, Involving Unspecified Site Chondrocalcinosis, Cause Unspecified Chondrocalcinosis Due To Pyrophosphate Crystals Chondrocalcinosis Articularis Calcium Pyrophosphate Arthritis And Periarthritis
Periarthritis
Pseudoxanthoma Elasticum	PXE Gronblad-Strandberg Syndrome Pseudoxanthoma Elasticum, Modifier Of Severity Of Gronblad-Strandberg-Touraine Syndrome Gronblad Strandberg Syndrome Groenblad-Strandberg Syndrome Nevus Elasticus Pxe - [Pseudoxanthoma Elasticum]
Cleidocranial Dysplasia	Cleidocranial Dysostosis CLCD Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly CCD Marie-Sainton Disease Dysplasia Cleidocranial Dento-Osseous Dysplasia Marie-Sainton Syndrome Dysplasia, Cleidocranial
Hyperostosis	Hypertrophy Of Bone Bone Hypertrophy Bone Thickening Periosteum Thickening
Arthropathy	Ankylosis Of Ankle And Foot Joint Ankylosis Of Forearm Joint Ankylosis Of Hand Joint Ankylosis Of Joint Of Ankle And/Or Foot Ankylosis Of Joint Of Forearm Ankylosis Of Joint Of Hand Ankylosis Of Joint Of Lower Leg Ankylosis Of Joint Of Multiple Sites Ankylosis Of Joint Of Pelvic Region And Thigh Ankylosis Of Joint Of Shoulder Region Ankylosis Of Joint Of Upper Arm Ankylosis Of Lower Leg Joint Ankylosis Of Multiple Joints Ankylosis Of Upper Arm Joint Infectious Arthropathy Joint Ankylosis Of The Ankle And Foot Joint Ankylosis Of The Ankle And/Or Foot Joint Ankylosis Of The Forearm Joint Ankylosis Of The Hand Joint Ankylosis Of The Lower Leg Joint Ankylosis Of The Pelvic Region And Thigh Joint Ankylosis Of The Shoulder Region Joint Ankylosis Of The Upper Arm Joint Diseases Joint Disease Arthropathy Associated With Infection
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Pnpo Deficiency Pyridoxamine 5'-Phosphate Oxidase Deficiency Pnpo-Related Neonatal Epileptic Encephalopathy Pyridoxal Phosphate-Responsive Seizures Pyridoxal 5'-Phosphate-Dependent Epilepsy Pyridoxine-5'-Phosphate Oxidase Deficiency PNPOD Seizures, Pyridoxine-Resistant, Plp-Sensitive Pyridoxal Phosphate-Dependent Seizures Pyridoxamine 5'-Oxidase Deficiency Epileptic Encephalopathy, Neonatal, Pnpo-Related Pyridox Ine 5'-Phosphate Oxidase Deficiency Deficiency, Pyridoxamine 5'-Phosphate Oxidase
Calcification Of Joints And Arteries	Hereditary Arterial And Articular Multiple Calcification Syndrome CALJA Arterial Calcification Due To Cd73 Deficiency Arterial Calcification Due To Deficiency Of Cd73 Acdc Arterial Calcification And Distal Joint Calcification Arterial Calcification Due To Deficiency Of Cd73:Acdc Calcification Of Joints And Arteries Calja
Epilepsy, Early-Onset, Vitamin B6-Dependent	EPVB6D Early-Onset Vitamin B6-Dependent Epilepsy
Osteomyelitis
Hyperprolinemia, Type Ii	Hyperprolinemia Type 2 HYRPRO2 Hpii 1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency Hyperprolinemia Type Ii 1 Alpha Pyrroline-5-Carboxylate Dehydrogenase Deficiency Type 2 Hyperprolinemia Delta-1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency Hyperprolinemia 2
Hypercementosis	Cementation Hyperplasia
Arterial Calcification Of Infancy	Idiopathic Infantile Arterial Calcification Generalized Arterial Calcification Of Infancy Iiac Occlusive Infantile Arteriopathy Infantile Arteriosclerosis Gaci Idiopathic Obliterative Arteriopathy Generalized Arterial Calcification In Infancy Arteriopathia Calcificans Infantum Diffuse Arterial Calcifying Elastopathy Of Infancy Infantile Calcifying Arteriopathy Medial Coronary Sclerosis Of Infancy Coronary Sclerosis, Medial, Of Infancy Calcification, Arterial, Generalized, Infancy
Bursitis	Bursitis, Not Otherwise Specified Inflammation Of Bursa
Microcephaly And Chorioretinopathy 1
Meningioma, Familial	Meningioma Familial Meningioma Meningioma, Familial, Susceptibility To Meningeal Neoplasm Meningeal Neoplasms Meningiomas Meningioma, Nf2-Related, Somatic Meningioma, Sis-Related Meningothelial Cell Tumor Neoplasm Of The Meninges Primary Meningeal Tumor Familial Multiple Meningioma MNGMA Meningioma, Benign, No Icd-O Subtype Intracranial Meningioma Meningothelial Cell Neoplasm Supratentorial Meningioma Primary Neoplasm Of Spinal Meninges Benign Intracranial Meningioma Benign Meningioma Meningeal Tumours Meningeal Sarcoma Of Unspecified Site Meningothelial Sarcoma Of Unspecified Site
Osteoporosis	Postmenopausal Osteoporosis Osteoporosis, Postmenopausal Bone Mineral Density Quantitative Trait Locus Bmnd Osteoporosis, Involutional Osteoporosis, Susceptibility To Osteoporosis, Postmenopausal, Susceptibility Bone Mineral Density Variation Qtl, Osteoporosis OSTEOP Involutional Osteoporosis Senile Osteoporosis Osteoporosis Postmenopausal Bone Mineral Density, Quantitative Trait Locus Osteoporosis, Senile Idiopathic Osteoporosis Bone Rarefaction Nos Type 1 Osteoporosis
Craniosynostosis	Premature Closure Of Cranial Sutures Craniostenosis Craniosynostosis Syndrome Cso Craniosynostoses Congenital Ossification Of Cranial Sutures Congenital Ossification Of Sutures Of Skull Craniostosis Imperfect Fusion Of Skull Congenital Imperfect Closure Skull Imperfect Closure Skull Premature Closure Cranium Sutures Deficiency Of Craniofacial Axis
Craniometaphyseal Dysplasia, Autosomal Dominant	Craniometaphyseal Dysplasia CMDD Cmdj Cmd Autosomal Dominant Craniometaphyseal Dysplasia Craniometaphyseal Dysplasia, Jackson Type Craniometaphyseal Dysplasia Jackson Type Autosomal Recessive Craniometaphyseal Dysplasia Cmdr Dysplasia, Craniometaphyseal, Autosomal Dominant Craniometaphyseal Dysplasia, Autosomal Recessive Type
Hypophosphatemic Rickets, X-Linked Dominant	X-Linked Hypophosphatemia Xlh Vitamin D-Resistant Rickets, X-Linked X-Linked Hypophosphatemic Rickets XLHR Hyp Hypophosphatemic Vitamin D-Resistant Rickets Hpdr X-Linked Dominant Hypophosphatemic Rickets Familial Hypophosphatemic Rickets Hypophosphatemia, X-Linked Hypophosphatemia, Vitamin D-Resistant Rickets Hypophosphatemic Rickets X-Linked Dominant X-Linked Vitamin D-Resistant Rickets Hypophophatemia, X-Linked Hypophophatemic Vitamin D-Resistant Rickets Hypophosphatemia X-Linked Vitamin D-Resistant Rickets X-Linked Vitamin D-Resistant Rickets Rickets, X-Linked Hypophosphatemic
Chronic Kidney Disease	Chronic Renal Disease Chronic Kidney Failure Ckd Chronic Renal Failure Kidney Failure, Chronic Chronic Renal Failure Syndrome Crf Renal Failure - Chronic Renal Failure Chronic Chronic Kidney Diseases Chronic Kidney Disease Stage 5 Ckd - [Chronic Kidney Disease] Crf - [Chronic Renal Failure] Chronic Kidney Impairment Chronic Renal Impairment Chronic Kidney Shutdown Chronic Hypoxic Kidney Failure Chronic Kidney Collapse Chronic Renal Insufficiency Chronic Kidney Toxaemia Chronic Kidney Hypofunction Chronic Renal Suppression Chronic Renal Failure, Stage 5 Ckd - [Chronic Kidney Disease] Stage 5 End Stage Kidney Failure End Stage Renal Failure End Stage Kidney Disease End Stage Renal Disease End Stage Chronic Renal Failure Esrf - [End Stage Renal Failure] Esrd - [End Stage Renal Diseases] Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²
Enthesopathy	Rheumatism
Ankylosis
Phosphorus Metabolism Disease	Phosphorus Metabolism Disorders Disorder Of Phosphorus Metabolism Phosphorus Disorder Phosphorus Metabolism Disorder
Osteogenesis Imperfecta, Type Ii	Vrolik Type Of Osteogenesis Imperfecta Osteogenesis Imperfecta Type 2 OI2 Oi, Type Ii Osteogenesis Imperfecta Congenita Oic Osteogenesis Imperfecta Type Ii Lethal Osteogenesis Imperfecta Oi Type 2 Osteogenesis Imperfecta Congenita Perinatal Lethal Form Osteogenesis Imperfecta Congenita, Perinatal Lethal Form Perinatal Lethal Osteogenesis Imperfecta Congenita Perinatally Lethal Oi Osteogenesis Imperfecta 2 Oi-Ii Oi-Iia Oi Type Iia Osteogenesis Imperfecta Type Iia Osteogenesis Imperfecta Type Ii Autosomal Dominant Oi Type Ii Osteogenesis Imperfecta, Dominant Perinatal Lethal
Respiratory Failure	Acute Respiratory Failure Chronic Respiratory Failure Respiratory Insufficiency Acute-On-Chronic Respiratory Failure Respiratory Disease Acute And Chronic Respiratory Failure Respiratory Insufficiency/Failure Chronic Respiratory Disease Pulmonary Valve Insufficiency Chronic Disease Of Respiratory System Respiration Disorders Respiratory Tract Diseases Lung Failure Nos Pulmonary Failure Arf - [Acute Respiratory Failure] Acute Respiratory Insufficiency Acute Pulmonary Insufficiency Acute Respiration Failure Chronic Respiration Failure
Bone Remodeling Disease
Osteogenic Sarcoma	Osteosarcoma OSRC Osteosarcoma, Somatic Neoplasms, Bone Tissue Bone Tissue Neoplasm Osteoid Sarcoma Skeletal Sarcoma Osteosarcoma Of Bone Bone Sarcoma
Epilepsy, Pyridoxine-Dependent	Pyridoxine-Dependent Epilepsy PDE Pyridoxine Dependency With Seizures Vitamin B6-Dependent Seizures EPD Aasa Dehydrogenase Deficiency Antiquitin Deficiency Pyridoxine Dependency Glutamate Decarboxylase Deficiency Pyridoxine-Dependent Seizures Deficiency Of Glutamate Decarboxylase
Osteoporosis, Juvenile	Idiopathic Juvenile Osteoporosis Idiopathic Osteoporosis Juvenile Osteoporosis Ijo
Bone Development Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-W019901B	Anhydrous calcium sulfate (97%)	Activator	99.40%	Unkown
HY-RS00632	ALPL Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17484	Alpl Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23942	Alpl Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ALPL	VGNC	VGNC:25850
Macaca mulatta	ALPL	VGNC	VGNC:69801
Mus musculus	ALPL	MGD	MGI:87983
Felis catus	ALPL	VGNC	VGNC:80134
Rattus norvegicus	ALPL	RGD	RGD:2100
Canis familiaris	ALPL	VGNC	VGNC:37818
Others	ALPL	NCBI