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

SymbolSpecies
pthlha Danio rerio
Pthlh Mus musculus
Pthlh Rattus norvegicus

Links to external resources

Changes associated with this gene

GO Terms

GO IDGO TermGO 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