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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Human disease related genes Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
11
Cytoband
p15.3
Chromosome location (bp)
13492054 - 13496181
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
PTH elevates calcium level by dissolving the salts in bone and preventing their renal excretion. Stimulates [1-14C]-2-deoxy-D-glucose (2DG) transport and glycogen synthesis in osteoblastic cells....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Hormone
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of the parathyroid family of proteins. The encoded preproprotein is proteolytically processed to generate a protein that binds to the parathyroid hormone/parathyroid hormone-related peptide receptor and regulates blood calcium and phosphate levels. Excess production of the encoded protein, known as hyperparathyroidism, can result in hypercalcemia and kidney stones. On the other hand, defective processing of the encoded protein may lead to hypoparathyroidism, which can result in hypocalcemia and numbness. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Endocrine and metabolic diseases Parathyroid diseases Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0001501[skeletal system development] GO:0005179[hormone activity] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0006366[transcription by RNA polymerase II] GO:0006874[cellular calcium ion homeostasis] GO:0007165[signal transduction] GO:0007186[G protein-coupled receptor signaling pathway] GO:0007189[adenylate cyclase-activating G protein-coupled receptor signaling pathway] GO:0007202[activation of phospholipase C activity] GO:0007266[Rho protein signal transduction] GO:0007267[cell-cell signaling] GO:0008628[hormone-mediated apoptotic signaling pathway] GO:0009410[response to xenobiotic stimulus] GO:0009967[positive regulation of signal transduction] GO:0010288[response to lead ion] GO:0010468[regulation of gene expression] GO:0010628[positive regulation of gene expression] GO:0010629[negative regulation of gene expression] GO:0010960[magnesium ion homeostasis] GO:0030282[bone mineralization] GO:0030501[positive regulation of bone mineralization] GO:0031667[response to nutrient levels] GO:0031856[parathyroid hormone receptor binding] GO:0031857[type 1 parathyroid hormone receptor binding] GO:0032331[negative regulation of chondrocyte differentiation] GO:0033280[response to vitamin D] GO:0034645[cellular macromolecule biosynthetic process] GO:0045453[bone resorption] GO:0045471[response to ethanol] GO:0045725[positive regulation of glycogen biosynthetic process] GO:0045778[positive regulation of ossification] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046058[cAMP metabolic process] GO:0046326[positive regulation of glucose import] GO:0046686[response to cadmium ion] GO:0047485[protein N-terminus binding] GO:0048018[receptor ligand activity] GO:0048873[homeostasis of number of cells within a tissue] GO:0051428[peptide hormone receptor binding] GO:0055062[phosphate ion homeostasis] GO:0055074[calcium ion homeostasis] GO:0060732[positive regulation of inositol phosphate biosynthetic process] GO:0071107[response to parathyroid hormone] GO:0071774[response to fibroblast growth factor] GO:0071864[positive regulation of cell proliferation in bone marrow] GO:0071866[negative regulation of apoptotic process in bone marrow cell] GO:0090290[positive regulation of osteoclast proliferation] GO:1900158[negative regulation of bone mineralization involved in bone maturation]
The Human Protein Atlas project is funded
