PTH - parathyroid hormone Gene
Also Known as FIH1; PTH1
Species: Homo sapiens
About PTH
This gene has 2 transcripts (splice variants), 176 orthologues and is associated with 3 phenotypes. Low expression observed in reference dataset.
Summary
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]
PTH Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_000315.4 | NP_000306.1 | parathyroid hormone isoform 1 preproprotein |
| NM_001316352.2 | NP_001303281.1 | parathyroid hormone isoform 2 |
| Molecular Function GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| enables hormone activity |
IMP
IMP: Inferred from mutant phenotype
|
11604398 | GOA |
| enables peptide hormone receptor binding |
IDA
IDA: Inferred from direct assay
|
19674967 | GOA |
| enables peptide hormone receptor binding |
IMP
IMP: Inferred from mutant phenotype
|
11604398 | GOA |
| enables protein binding |
IMP
IMP: Inferred from mutant phenotype
|
11604398 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
19674967 | GOA |
| enables receptor ligand activity |
IMP
IMP: Inferred from mutant phenotype
|
11604398 | GOA |
| enables type 1 parathyroid hormone receptor binding |
IMP
IMP: Inferred from mutant phenotype
|
11604398 | GOA |
| Biological Process GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| involved in adenylate cyclase-activating G protein-coupled receptor signaling pathway |
IMP
IMP: Inferred from mutant phenotype
|
11604398 | GOA |
| acts upstream of or within macromolecule biosynthetic process |
IDA
IDA: Inferred from direct assay
|
19723499 | GOA |
| involved in negative regulation of gene expression |
IDA
IDA: Inferred from direct assay
|
17696759 | GOA |
| involved in positive regulation of D-glucose import |
IDA
IDA: Inferred from direct assay
|
21076856 | GOA |
| involved in positive regulation of bone mineralization |
IDA
IDA: Inferred from direct assay
|
17696759 | GOA |
| involved in positive regulation of glycogen biosynthetic process |
IDA
IDA: Inferred from direct assay
|
21076856 | GOA |
| involved in positive regulation of inositol phosphate biosynthetic process |
IMP
IMP: Inferred from mutant phenotype
|
11604398 | GOA |
| acts upstream of or within positive regulation of transcription by RNA polymerase II |
IDA
IDA: Inferred from direct assay
|
19723499 | GOA |
PTH Protein Structure
Parathyroid: Parathyroid hormone family (29 - 105)
- 0
- 100
- 115 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
parathyroid hormone |
|
PTH Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Verweise |
|---|---|---|---|---|---|---|---|
|
Intra
|
PTH | P01270 | ASPH | Homo sapiens | Q12797-6 | 32296183 | |
|
Intra
|
PTH | P01270 | PTH1R | Homo sapiens | Q03431 | 19674967 |
Recombinant PTH Proteins
| Art. -Nr. | Produktname | Accession | Reinheit |
|---|---|---|---|
| HY-P7112 | PTH Protein, Human | P01270 (S32-Q115) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P71060 | PTH Protein, Human (HEK293, His) | P01270 (S32-Q115) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P73686 | PTH Protein, Human (GST) | P01270 (S32-F65) | ≥ 95%, as determined by reducing SDS-PAGE. |
PTH Antibodies
| Art. -Nr. | Produktname | Anwendung | Reactivity |
|---|---|---|---|
| HY-P83905 | Parathyroid Hormone Antibody (YA3602) | IHC-P, ICC/IF, FC, ELISA | Human |
| HY-P83905A | Parathyroid Hormone Antibody (YA3602)(PBS only) | IHC-P, ICC/IF, FC, ELISA | Human |
| HY-P85339 | Parathyroid Hormone Antibody (YA5031) | WB; IHC-P; IHC-F; IF-Tissue | Human |
| HY-P86009 | Parathyroid Hormone Antibody (YA5701) | IHC-P, ICC/IF, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Hypoparathyroidism, Familial Isolated, 1 |
|
|
| Familial Isolated Hypoparathyroidism |
|
|
| Primary Hyperparathyroidism |
|
|
| Hypoparathyroidism |
|
|
| Renal Osteodystrophy |
|
|
| Parathyroid Gland Disease |
|
|
| Parathyroid Carcinoma |
|
|
| Hyperparathyroidism |
|
|
| Secondary Hyperparathyroidism |
|
|
| Hyperphosphatemia |
|
|
| Rickets |
|
|
| Osteitis Fibrosa |
|
|
| Pseudohypoparathyroidism |
|
|
| Parathyroid Adenoma |
|
|
| Hypocalcemia, Autosomal Dominant 1 |
|
|
| Uremia |
|
|
| Hypophosphatemia |
|
|
| Hypervitaminosis D |
|
|
| Mineral Metabolism Disease |
|
|
| Bone Disease |
|
|
| Osteoporosis |
|
|
| Phosphorus Metabolism Disease |
|
|
| Osteonecrosis |
|
|
| Chief Cell Adenoma |
|
|
| Pseudohypoparathyroidism, Type Ib |
|
|
| Chronic Kidney Disease |
|
|
| Substernal Goiter |
|
|
| Uremic Neuropathy |
|
|
| Secondary Hyperparathyroidism Of Renal Origin |
|
|
| Jaccoud'S Syndrome |
|
|
| Bone Remodeling Disease |
|
|
| Pseudohypoparathyroidism, Type Ia |
|
|
| Pseudopseudohypoparathyroidism |
|
|
| Osteomalacia |
|
|
| Tetanic Cataract |
|
|
| Lipoadenoma |
|
|
| Familial Hypocalciuric Hypercalcemia |
|
|
| Hypercalcemia, Infantile, 1 |
|
|
| Bone Resorption Disease |
|
|
| Water-Clear Cell Adenoma |
|
|
| Metaphyseal Chondrodysplasia, Jansen Type |
|
|
| Glucocorticoid-Induced Osteoporosis |
|
|
| Kidney Disease |
|
|
| Fanconi Syndrome |
|
|
| Vitamin D-Dependent Rickets |
|
|
| Multiple Endocrine Neoplasia, Type Iia |
|
|
| Hyperthyroidism |
|
|
| Adenoma |
|
|
| Parathyroid Transitional Clear Cell Adenoma |
|
|
| Combined Oxidative Phosphorylation Deficiency 40 |
|
|
| Hypothyroidism, Congenital, Nongoitrous, 1 |
|
|
| Postsurgical Hypothyroidism |
|
|
| Multiple Endocrine Neoplasia |
|
|
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
|
| Hyperprolactinemia |
|
|
| Calciphylaxis |
|
|
| Endocrine Organ Benign Neoplasm |
|
|
| Eiken Syndrome |
|
|
| Hypophosphatasia, Adult |
|
|
| Short Bowel Syndrome |
|
|
| Multiple Endocrine Neoplasia, Type I |
|
|
| Vitamin D Hydroxylation-Deficient Rickets, Type 1a |
|
|
| Endosteal Hyperostosis, Autosomal Dominant |
|
|
| Hypoparathyroidism-Deafness-Renal Disease Syndrome |
|
|
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
|
| Hypophosphatemic Rickets, X-Linked Dominant |
|
|
| Ossifying Fibroma |
|
|
| Hyperuricemia |
|
|
| Giant Cell Reparative Granuloma |
|
|
| Ureterolithiasis |
|
|
| Dental Abscess |
|
|
| Childhood Ovarian Dysgerminoma |
|
|
| Childhood Ovarian Germ Cell Tumor |
|
|
| Restless Legs Syndrome |
|
|
| Hypophosphatemic Rickets, Autosomal Dominant |
|
|
| Metal Metabolism Disorder |
|
|
| Enthesopathy |
|
|
| Bone Benign Neoplasm |
|
|
| Ischemic Bone Disease |
|
|
| Mammary Paget'S Disease |
|
|
| Nephrolithiasis |
|
|
| Kenny-Caffey Syndrome |
|
|
| Graves Disease 1 |
|
|
| Axial Osteomalacia |
|
|
| Autosomal Recessive Hypophosphatemic Rickets |
|
|
| Primary Hypomagnesemia |
|
|
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
|
| Van Buchem Disease |
|
|
| Acrodysostosis |
|
|
| Acquired Metabolic Disease |
|
|
| Hypomagnesemia 1, Intestinal |
|
|
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
|
| Basal Ganglia Disease |
|
|
| Osseous Heteroplasia, Progressive |
|
|
| Gorham'S Disease |
|
|
| Osteoporosis, Juvenile |
|
|
| Renal Tubular Acidosis |
|
|
| Nontoxic Goiter |
|
|
| Thyroid Gland Disease |
|
|
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
|
| Basal Ganglia Calcification |
|
|
| Endemic Goiter |
|
|
| Bone Giant Cell Tumor |
|
|
| Multinodular Goiter |
|
|
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
|
| Vitamin D Hydroxylation-Deficient Rickets, Type 1b |
|
|
| Plummer'S Disease |
|
|
| Paraganglioma |
|
|
| Vitamin K Deficiency Bleeding |
|
|
| Chronic Pyelonephritis |
|
|
| Thyroid Gland Cancer |
|
|
| Conn'S Syndrome |
|
|
| Hypophosphatasia |
|
|
| Scleredema Adultorum |
|
|
| Malignant Ovarian Brenner Tumor |
|
|
| Enchondromatosis, Multiple, Ollier Type |
|
|
| Spondylolisthesis |
|
|
| Sclerosteosis |
|
|
| Failure Of Tooth Eruption, Primary |
|
|
| Tooth Resorption |
|
|
| Myelofibrosis |
|
|
| Nodular Goiter |
|
|
| Metaphyseal Dysplasia |
|
|
| Periarthritis |
|
|
| Chondrocalcinosis |
|
|
| Paget'S Disease Of Bone |
|
|
| Bone Development Disease |
|
|
| Benzylpenicillin Allergy |
|
|
| Spondyloarthropathy 1 |
|
|
| Osteoblastoma |
|
|
| Cerebral Palsy |
|
|
| Cell Type Benign Neoplasm |
|
|
| Hypertension, Essential |
|
|
| Lactose Intolerance |
|
|
| Mccune-Albright Syndrome |
|
|
| Renal Tubular Transport Disease |
|
|
| Dysgerminoma Of Ovary |
|
|
| Ovarian Small Cell Carcinoma |
|
|
| Spondylolysis |
|
|
| Hypersensitivity Reaction Type Iv Disease |
|
|
| Diffuse Idiopathic Skeletal Hyperostosis |
|
|
| Bartter Disease |
|
|
| Osteochondrosis |
|
|
| Breast Adenocarcinoma |
|
|
| Deficiency Anemia |
|
|
| Vitamin D-Dependent Rickets, Type 2a |
|
|
| Renal Hypertension |
|
|
| Bursitis |
|
|
| Osteogenic Sarcoma |
|
|
| Thyroid Gland Medullary Carcinoma |
|
|
| Nerve Compression Syndrome |
|
|
| Adrenal Gland Disease |
|
|
| Brittle Bone Disorder |
|
|
| Connective Tissue Benign Neoplasm |
|
|
| Spondylosis |
|
|
| Tall Cell Variant Papillary Carcinoma |
|
|
| Palmoplantar Keratoderma, Punctate Type Iii |
|
|
| Kohler'S Disease |
|
|
| Autoimmune Disease Of Endocrine System |
|
|
| Beta-Thalassemia Major |
|
|
| Invasive Malignant Thymoma |
|
|
| Premature Menopause |
|
|
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
|
| Isthmus Cancer |
|
|
| Endocrine System Disease |
|
|
| Nephrogenic Diabetes Insipidus |
|
|
| Bone Structure Disease |
|
|
| Sarcoidosis 1 |
|
|
| Osteochondrodysplasia |
|
|
| Diabetes Mellitus |
|
|
| Cystic Kidney Disease |
|
|
| Cardiovascular System Disease |
|
|
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
|
| Nevus, Epidermal |
|
|
| Sclerosing Hepatic Carcinoma |
|
|
| Tibial Adamantinoma |
|
|
| Brachydactyly |
|
|
| Lipoprotein Quantitative Trait Locus |
|
|
| Congenital Hypothyroidism |
|
|
| Celiac Disease 1 |
|
|
| Constipation |
|
|
| Connective Tissue Disease |
|
|
| Autosomal Dominant Polycystic Kidney Disease |
|
|
| Polycystic Kidney Disease |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Nervous System Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | PTH | MGD | MGI:97799 |
| Macaca mulatta | PTH | VGNC | VGNC:107630 |
| Bos taurus | PTH | VGNC | VGNC:33513 |
| Canis familiaris | PTH | VGNC | VGNC:45153 |
| Rattus norvegicus | PTH | RGD | RGD:3440 |
| Others | PTH | NCBI |