Alpl Gene Search Result

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14 records found for search term Alpl

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
2100	Alpl	alkaline phosphatase, biomineralization associated	ENCODES a protein that exhibits alkaline phosphatase activity; calcium ion binding (ortholog); phosphoamidase activity (ortholog); INVOLVED IN cementum mineralization; response to glucocorticoid; response to insulin; PARTICIPATES IN hypophosphatasia pathway; vitamin B6 metabolic pathway; folate meta ... (more) bolic pathway; ASSOCIATED WITH Alveolar Bone Loss; Hypercholesterolemia; uremia; FOUND IN extracellular membrane-bounded organelle; extracellular space; extracellular matrix (ortholog); INTERACTS WITH (2E,4E)-hexa-2,4-dienoic acid; (E)-thiamethoxam; (R,R)-tramadol	5	155234770	155289785	Rat	707	symbol , PhenoGen	gene, protein-coding, VALIDATED [RefSeq]
731885	Alpl	alkaline phosphatase, liver/bone/kidney	This gene encodes a preproprotein that is proteolytically cleaved to yield a signal peptide and a proproptein that is subsequently processed to generate the active mature peptide. The encoded protein is a membrane-bound glycosylated enzyme that catalyzes the hydrolysis of phosphate esters at alkalin ... (more) e pH. The mature peptide maintains the ratio of inorganic phosphate to inorganic pyrophosphate required for bone mineralization. Mice that lack this enzyme show symptoms of osteomalacia, softening of the bones. In humans, mutations in this gene are associated with hypophosphatasia, an inherited metabolic bone disease in which deficiency of this enzyme inhibits bone mineralization leading to skeletal defects. Mutations in the mouse gene mirror the symptoms of human hypophosphatasia. A pseudogene of this gene is present on chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]	4	137469042	137523695	Mouse	867	symbol , PhenoGen	gene, protein-coding, VALIDATED [RefSeq]
1346147	ALPL	alkaline phosphatase, biomineralization associated	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 no ... (more) n-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]	1	21508984	21578410	Human	1396	symbol , COSMIC , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
8809632	Alpl	alkaline phosphatase, biomineralization associated	ENCODES a protein that exhibits alkaline phosphatase activity (ortholog); calcium ion binding (ortholog); phosphoamidase activity (ortholog); INVOLVED IN bone mineralization (ortholog); calcium ion homeostasis (ortholog); cementum mineralization (ortholog); PARTICIPATES IN hypophosphatasia pathway; ... (more) vitamin B6 metabolic pathway; ASSOCIATED WITH adult hypophosphatasia (ortholog); alpha thalassemia-X-linked intellectual disability syndrome (ortholog); Alveolar Bone Loss (ortholog); FOUND IN extracellular matrix (ortholog); extracellular membrane-bounded organelle (ortholog); extracellular space (ortholog)	NW_004955452	1820212	1873877	Chinchilla	87	symbol	gene, protein-coding, MODEL [RefSeq]
11875046	ALPL	alkaline phosphatase, biomineralization associated	ENCODES a protein that exhibits alkaline phosphatase activity (ortholog); INVOLVED IN cementum mineralization (ortholog); developmental process involved in reproduction (ortholog); endochondral ossification (ortholog); PARTICIPATES IN hypophosphatasia pathway; vitamin B6 metabolic pathway; ASSOCIATE ... (more) D WITH adult hypophosphatasia (ortholog); alpha thalassemia-X-linked intellectual disability syndrome (ortholog); Alveolar Bone Loss (ortholog); FOUND IN extracellular membrane-bounded organelle (ortholog); extracellular space (ortholog)	1	20702509	20772301	Bonobo	91	symbol	gene, protein-coding, MODEL [RefSeq]
12191049	ALPL	alkaline phosphatase, biomineralization associated	ENCODES a protein that exhibits alkaline phosphatase activity (ortholog); INVOLVED IN cementum mineralization (ortholog); developmental process involved in reproduction (ortholog); endochondral ossification (ortholog); PARTICIPATES IN hypophosphatasia pathway; vitamin B6 metabolic pathway; ASSOCIATE ... (more) D WITH adult hypophosphatasia (ortholog); alpha thalassemia-X-linked intellectual disability syndrome (ortholog); Alveolar Bone Loss (ortholog); FOUND IN extracellular membrane-bounded organelle (ortholog); extracellular space (ortholog)	2	77559791	77614102	Dog	92	symbol	gene, protein-coding, VALIDATED [RefSeq]
12650126	Alpl	alkaline phosphatase, biomineralization associated	ENCODES a protein that exhibits alkaline phosphatase activity (ortholog); INVOLVED IN cementum mineralization (ortholog); developmental process involved in reproduction (ortholog); endochondral ossification (ortholog); PARTICIPATES IN hypophosphatasia pathway; vitamin B6 metabolic pathway; ASSOCIATE ... (more) D WITH adult hypophosphatasia (ortholog); alpha thalassemia-X-linked intellectual disability syndrome (ortholog); Alveolar Bone Loss (ortholog); FOUND IN extracellular membrane-bounded organelle (ortholog); extracellular space (ortholog)	NW_004936474	7209196	7229899	Squirrel	91	symbol	gene, protein-coding, MODEL [RefSeq]
18545772	ALPL	alkaline phosphatase, biomineralization associated	ENCODES a protein that exhibits alkaline phosphatase activity (ortholog); INVOLVED IN cementum mineralization (ortholog); developmental process involved in reproduction (ortholog); endochondral ossification (ortholog); PARTICIPATES IN hypophosphatasia pathway; vitamin B6 metabolic pathway; ASSOCIATE ... (more) D WITH adult hypophosphatasia (ortholog); alpha thalassemia-X-linked intellectual disability syndrome (ortholog); Alveolar Bone Loss (ortholog); FOUND IN extracellular membrane-bounded organelle (ortholog); extracellular space (ortholog)				Green Monkey	91	symbol	gene, protein-coding, MODEL [RefSeq]
155242672	alpl						Tropical Clawed Frog		symbol	gene, null
18929207	Alpl	alkaline phosphatase, biomineralization associated	ENCODES a protein that exhibits alkaline phosphatase activity (ortholog); calcium ion binding (ortholog); phosphoethanolamine phosphatase activity (ortholog); INVOLVED IN bone mineralization (ortholog); calcium ion homeostasis (ortholog); cementum mineralization (ortholog); PARTICIPATES IN hypophosp ... (more) hatasia pathway; vitamin B6 metabolic pathway; ASSOCIATED WITH adult hypophosphatasia (ortholog); alpha thalassemia-X-linked intellectual disability syndrome (ortholog); Alveolar Bone Loss (ortholog); FOUND IN extracellular matrix (ortholog); extracellular membrane-bounded organelle (ortholog); extracellular space (ortholog)				Naked Mole-Rat	96	symbol	gene, protein-coding, MODEL [RefSeq]
14252241	ALPL	alkaline phosphatase, biomineralization associated	ENCODES a protein that exhibits alkaline phosphatase activity (ortholog); calcium ion binding (ortholog); pyrophosphatase activity (ortholog); INVOLVED IN calcium ion homeostasis (ortholog); cementum mineralization (ortholog); developmental process involved in reproduction (ortholog); PARTICIPATES I ... (more) N hypophosphatasia pathway; vitamin B6 metabolic pathway; ASSOCIATED WITH adult hypophosphatasia (ortholog); alpha thalassemia-X-linked intellectual disability syndrome (ortholog); Alveolar Bone Loss (ortholog); FOUND IN extracellular matrix (ortholog); extracellular membrane-bounded organelle (ortholog); extracellular space (ortholog); INTERACTS WITH Bisphenol A diglycidyl ether; deoxynivalenol; dexamethasone				Pig	101	symbol	gene, protein-coding, MODEL [RefSeq]
625980371	Alpl	alkaline phosphatase, biomineralization associated	ENCODES a protein that exhibits alkaline phosphatase activity (ortholog); calcium ion binding (ortholog); phosphoamidase activity (ortholog); INVOLVED IN bone mineralization (ortholog); calcium ion homeostasis (ortholog); cementum mineralization (ortholog); PARTICIPATES IN hypophosphatasia pathway; ... (more) vitamin B6 metabolic pathway; ASSOCIATED WITH adult hypophosphatasia (ortholog); alpha thalassemia-X-linked intellectual disability syndrome (ortholog); Alveolar Bone Loss (ortholog); FOUND IN extracellular matrix (ortholog); extracellular membrane-bounded organelle (ortholog); extracellular space (ortholog)				Black Rat	86	symbol	gene, protein-coding, MODEL [RefSeq]
155255838	alpl.L						African Clawed Frog		symbol	gene, null
155242673	alpl.S						African Clawed Frog		symbol	gene, null