Human Gene PTH (ENST00000282091.6_7) from GENCODE V47lift37
  Description: parathyroid hormone, transcript variant 1 (from RefSeq NM_000315.4)
Gencode Transcript: ENST00000282091.6_7
Gencode Gene: ENSG00000152266.7_12
Transcript (Including UTRs)
   Position: hg19 chr11:13,513,601-13,517,544 Size: 3,944 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr11:13,513,952-13,514,402 Size: 451 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:13,513,601-13,517,544)mRNA (may differ from genome)Protein (115 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PTHY_HUMAN
DESCRIPTION: RecName: Full=Parathyroid hormone; Short=PTH; AltName: Full=Parathormone; AltName: Full=Parathyrin; Flags: Precursor;
FUNCTION: 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.
SUBUNIT: Interacts with PTH1R (via N-terminal extracellular domain).
SUBCELLULAR LOCATION: Secreted.
DISEASE: Defects in PTH are a cause of familial isolated hypoparathyroidism (FIH) [MIM:146200]; also called autosomal dominant hypoparathyroidism or autosomal dominant hypocalcemia. FIH is characterized by hypocalcemia and hyperphosphatemia due to inadequate secretion of parathyroid hormone. Symptoms are seizures, tetany and cramps. FIH exist both as autosomal dominant and recessive forms of hypoparathyroidism.
SIMILARITY: Belongs to the parathyroid hormone family.
WEB RESOURCE: Name=Wikipedia; Note=Parathyroid hormone entry; URL="http://en.wikipedia.org/wiki/Parathyroid_hormone";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PTH
Diseases sorted by gene-association score: hypoparathyroidism, familial isolated* (1680), hyperparathyroidism, familial primary* (249), pth-related familial isolated hypoparathyroidism* (100), hypoparathyroidism (67), renal osteodystrophy (36), secondary hyperparathyroidism of renal origin (31), parathyroid gland disease (29), hyperparathyroidism (28), hypervitaminosis d (24), parathyroid carcinoma (23), uremic neuropathy (23), hyperphosphatemia (21), pseudohypoparathyroidism (20), osteitis fibrosa (19), parathyroid adenoma (19), clear cell adenoma (18), uremia (15), mineral metabolism disease (14), jaccoud's syndrome (14), bone remodeling disease (14), bone resorption disease (14), phosphorus metabolism disease (14), pseudoarthrosis (12), hypophosphatemia (12), rickets (12), osteoporosis (12), chief cell adenoma (11), glucocorticoid-induced osteoporosis (11), impaired renal function disease (11), water-clear cell adenoma (11), end stage renal failure (11), axial osteomalacia (10), pseudohypoparathyroidism ia (10), parathyroid transitional clear cell adenoma (10), endocrine organ benign neoplasm (9), vitamin d-dependent rickets type ii (9), metaphyseal chondrodysplasia, murk jansen type (9), hypercalcemia, infantile, 1 (9), pseudohypoparathyroidism, type ib (8), pseudopseudohypoparathyroidism (8), organ system benign neoplasm (8), tibial adamantinoma (8), spondylosis (8), familial hypocalciuric hypercalcemia (8), cell type benign neoplasm (7), hypomagnesemia 1, intestinal (7), multiple endocrine neoplasia iia (7), lipoadenoma (7), chondrodysplasia, blomstrand type (7), extraskeletal chondroma (7), hypophosphatemic rickets, x-linked dominant (7), fibrogenesis imperfecta ossium (7), oncogenic osteomalacia (7), scleredema adultorum (7), sclerosing hepatic carcinoma (7), postsurgical hypothyroidism (7), hypophosphatasia, adult (7), chronic kidney failure (7), jaw cancer (6), fanconi syndrome (6), hypoparathyroidism-deafness-renal disease syndrome (6), impetigo herpetiformis (6), primary hypomagnesemia (6), hypoparathyroidism-retardation-dysmorphism syndrome (6), invasive malignant thymoma (6), urinary system disease (6), osteonecrosis (6), thyroid crisis (6), acquired metabolic disease (6), multiple endocrine neoplasia 1 (5), acrodysostosis (5), hypocalciuric hypercalcemia, type ii (5), hypophosphatemic rickets with hypercalciuria (5), metal metabolism disorder (5), pulmonary alveolar microlithiasis (5), ischemic bone disease (4), cloacogenic carcinoma (4), immune system organ benign neoplasm (4), thymus lipoma (4), thyroid gland disease (4), kidney disease (4), paget's disease of bone (3), osteosarcoma, somatic (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.11 RPKM in Stomach
Total median expression: 0.14 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -13.1092-0.142 Picture PostScript Text
3' UTR -49.30351-0.140 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003625 - PTH
IPR001415 - PTH/PTH-rel

Pfam Domains:
PF01279 - Parathyroid hormone family

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1BWX - NMR MuPIT 1ET1 - X-ray MuPIT 1ET2 - Model 1FVY - NMR MuPIT 1HPH - NMR MuPIT 1HPY - NMR MuPIT 1HTH - NMR MuPIT 1ZWA - NMR MuPIT 1ZWB - NMR MuPIT 1ZWD - NMR MuPIT 1ZWE - NMR MuPIT 1ZWF - NMR MuPIT 1ZWG - NMR MuPIT 2L1X - NMR MuPIT 3C4M - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P01270
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
GO:0005179 hormone activity
GO:0031856 parathyroid hormone receptor binding
GO:0031857 type 1 parathyroid hormone receptor binding
GO:0047485 protein N-terminus binding
GO:0048018 receptor agonist activity
GO:0051428 peptide hormone receptor binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001501 skeletal system development
GO:0006874 cellular calcium ion homeostasis
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:0009967 positive regulation of signal transduction
GO:0010288 response to lead ion
GO:0010468 regulation of gene expression
GO:0010469 regulation of receptor activity
GO:0030501 positive regulation of bone mineralization
GO:0030819 positive regulation of cAMP biosynthetic process
GO:0031667 response to nutrient levels
GO:0032331 negative regulation of chondrocyte differentiation
GO:0033280 response to vitamin D
GO:0034645 cellular macromolecule biosynthetic process
GO:0042493 response to drug
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 from RNA polymerase II promoter
GO:0046058 cAMP metabolic process
GO:0046326 positive regulation of glucose import
GO:0046686 response to cadmium ion
GO:0048873 homeostasis of number of cells within a tissue
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
GO:0090290 positive regulation of osteoclast proliferation
GO:1900158 negative regulation of bone mineralization involved in bone maturation

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005622 intracellular
GO:0005623 cell


-  Descriptions from all associated GenBank mRNAs
  V00597 - Human messenger RNA for preproparathyroid hormone (PTH).
AX192143 - Sequence 4 from Patent WO0149838.
DL232964 - Protein binding paratyroid hormon nucleotide sequences and uses thereof.
BC096142 - Homo sapiens parathyroid hormone, mRNA (cDNA clone MGC:116790 IMAGE:40002688), complete cds.
BC096143 - Homo sapiens parathyroid hormone, mRNA (cDNA clone MGC:116791 IMAGE:40002690), complete cds.
BC096144 - Homo sapiens parathyroid hormone, mRNA (cDNA clone MGC:116792 IMAGE:40002692), complete cds.
BC096145 - Homo sapiens parathyroid hormone, mRNA (cDNA clone MGC:116793 IMAGE:40002693), complete cds.
KJ891941 - Synthetic construct Homo sapiens clone ccsbBroadEn_01335 PTH gene, encodes complete protein.
KR711759 - Synthetic construct Homo sapiens clone CCSBHm_00030768 PTH (PTH) mRNA, encodes complete protein.
KR711760 - Synthetic construct Homo sapiens clone CCSBHm_00030769 PTH (PTH) mRNA, encodes complete protein.
AB464650 - Synthetic construct DNA, clone: pF1KB8866, Homo sapiens PTH gene for parathyroid hormone, without stop codon, in Flexi system.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P01270 (Reactome details) participates in the following event(s):

R-HSA-420489 Parathyroid hormone receptor can bind parathyroid hormone
R-HSA-744886 The Ligand:GPCR:Gs complex dissociates
R-HSA-744887 Liganded Gs-activating GPCRs bind inactive heterotrimeric Gs
R-HSA-379044 Liganded Gs-activating GPCR acts as a GEF for Gs
R-HSA-373080 Class B/2 (Secretin family receptors)
R-HSA-418555 G alpha (s) signalling events
R-HSA-500792 GPCR ligand binding
R-HSA-388396 GPCR downstream signalling
R-HSA-372790 Signaling by GPCR
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000282091.1, ENST00000282091.2, ENST00000282091.3, ENST00000282091.4, ENST00000282091.5, NM_000315, P01270, PTHY_HUMAN, Q4VB48, Q9UD38, uc317jyi.1, uc317jyi.2
UCSC ID: ENST00000282091.6_7
RefSeq Accession: NM_000315.4
Protein: P01270 (aka PTHY_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.