parathyroid hormone-like hormone
Symbol
PTHLH
(may also be known as: None)
Organism
Human
Description
The protein encoded by this gene is a member of the parathyroid hormone family. This hormone, via its receptor, PTHR1, regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth. It is responsible for most cases of humoral hypercalcemia of malignancy, and mutations in this gene are associated with brachydactyly type E2 (BDE2). Alternatively spliced transcript variants have been found for this gene. There is also evidence for alternative translation initiation from non-AUG (CUG and GUG) start sites, downstream of the initiator AUG codon, resulting in nuclear forms of this hormone. [provided by RefSeq, Nov 2013]
Orthologs
Symbol | Species | |
---|---|---|
pthlha | Danio rerio | |
Pthlh | Mus musculus | |
Pthlh | Rattus norvegicus |
Links to external resources
Changes associated with this gene
GO Terms
GO ID | GO Term | GO Category | |
---|---|---|---|
GO:0001501 | skeletal system development | biological_process | |
GO:0001958 | endochondral ossification | biological_process | |
GO:0002076 | osteoblast development | biological_process | |
GO:0007189 | activation of adenylate cyclase activity by G-protein signaling pathway | biological_process | |
GO:0007267 | cell-cell signaling | biological_process | |
GO:0007492 | endoderm development | biological_process | |
GO:0007565 | female pregnancy | biological_process | |
GO:0008284 | positive regulation of cell proliferation | biological_process | |
GO:0008285 | negative regulation of cell proliferation | biological_process | |
GO:0008544 | epidermis development | biological_process | |
GO:0010468 | regulation of gene expression | biological_process | |
GO:0016485 | protein processing | biological_process | |
GO:0030819 | positive regulation of cAMP biosynthetic process | biological_process | |
GO:0030855 | epithelial cell differentiation | biological_process | |
GO:0032330 | regulation of chondrocyte differentiation | biological_process | |
GO:0032331 | negative regulation of chondrocyte differentiation | biological_process | |
GO:0043129 | surfactant homeostasis | biological_process | |
GO:0043433 | negative regulation of sequence-specific DNA binding transcription factor activity | biological_process | |
GO:0046058 | cAMP metabolic process | biological_process | |
GO:0048286 | lung alveolus development | biological_process | |
GO:0060649 | mammary gland bud elongation | biological_process | |
GO:0060659 | nipple sheath formation | biological_process | |
GO:0005576 | extracellular region | cellular_component | |
GO:0005615 | extracellular space | cellular_component | |
GO:0005622 | intracellular | cellular_component | |
GO:0005634 | nucleus | cellular_component | |
GO:0005730 | nucleolus | cellular_component | |
GO:0005737 | cytoplasm | cellular_component | |
GO:0005794 | Golgi apparatus | cellular_component | |
GO:0005179 | hormone activity | molecular_function | |
GO:0051428 | peptide hormone receptor binding | molecular_function | |