Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Pthlh. (This text reflects annotations as of Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the parathyroid hormone family. This hormone regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth. This hormone is involved in lactation possibly by regulating the mobilization and transfer of calcium to the milk. The receptor of this hormone, PTHR1, is responsible for most cases of humoral hypercalcemia of malignancy. Four alternatively spliced transcript variants encoding two distinct isoforms have been observed. There is also evidence for alternative translation initiation from non-AUG (CUG and GUG) start sites, in-frame and downstream of the initiator AUG codon, to give rise to nuclear forms of this hormone. [provided by RefSeq, Jul 2008]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Pthlh
  • participates in the following biological processes:
    • endoderm development ^[7]
    • negative regulation of chondrocyte differentiation ^[5]
    • negative regulation of sequence-specific DNA binding transcription factor activity ^[5]
    • positive regulation of cell proliferation ^[5]
    • protein processing ^[5]
  • is located in the following cellular components:
    • intracellular ^[4]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Pthlh
  • participates in the following biological processes:
    • endochondral ossification ^[4]
    • epithelial cell differentiation ^[8]
    • lung alveolus development ^[8]
    • mammary gland bud elongation ^[9]
    • negative regulation of chondrocyte differentiation ^[6]
    • nipple sheath formation ^[9]
    • osteoblast development ^[3]
    • skeletal system development ^{[1, 2]}
    • surfactant homeostasis ^[8]
• Researchers have inferred, based on genetic interactions, that the gene product of Pthlh
  • participates in the following biological processes:
    • negative regulation of chondrocyte differentiation based on interactions with Gli2 ^[5]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Pthlh:
  • participates in the following biological processes:
    • adenylate cyclase-activating G-protein coupled receptor signaling pathway
    • negative regulation of chondrocyte differentiation
    • positive regulation of cAMP biosynthetic process
    • regulation of gene expression
    • skeletal system development
  • performs the following molecular functions:
    • hormone activity
    • peptide hormone receptor binding
  • is located in the following cellular components:
    • cytoplasm
    • Golgi apparatus
    • nucleus

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Summary text based on GO annotations supported by structural data

• Pthlh encodes a protein or proteins that contain the following InterPro domains: Parathyroid hormone-related protein, Parathyroid hormone/parathyroid hormone-related protein, indicating that the gene product:
  • participates in the following biological processes:
    • regulation of chondrocyte differentiation
  • is located in the following cellular components:
    • extracellular region

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Pthlh indicates that it:
  • is located in the following cellular components:
    • extracellular region

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References

1. Karaplis AC et al. (1994) Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene. Genes Dev, 8:277-89. (PubMed:8314082)
2. Kovacs CS et al. (2001) Pth regulates fetal blood calcium and skeletal mineralization independently of pthrp. Endocrinology, 142:4983-93. (PubMed:11606467)
3. Lanske B et al. (1998) The parathyroid hormone (PTH)/PTH-related peptide receptor mediates actions of both ligands in murine bone. Endocrinology, 139:5194-204. (PubMed:9832460)
4. Lee K et al. (1996) Parathyroid hormone-related peptide delays terminal differentiation of chondrocytes during endochondral bone development. Endocrinology, 137:5109-18. (PubMed:8895385)
5. Mau E et al. (2007) PTHrP regulates growth plate chondrocyte differentiation and proliferation in a Gli3 dependent manner utilizing hedgehog ligand dependent and independent mechanisms. Dev Biol, 305:28-39. (PubMed:17328886)
6. Mazeyrat S et al. (1998) The mouse Y chromosome interval necessary for spermatogonial proliferation is gene dense with syntenic homology to the human AZFa region. Hum Mol Genet, 7:1713-24. (PubMed:9736773)
7. Roelen BA et al. (1998) Identification of two distinct functions for TGF-beta in early mouse development. Differentiation, 64:19-31. (PubMed:9921650)
8. Rubin LP et al. (2004) Arrested pulmonary alveolar cytodifferentiation and defective surfactant synthesis in mice missing the gene for parathyroid hormone-related protein. Dev Dyn, 230:278-89. (PubMed:15162506)
9. Wysolmerski JJ et al. (1998) Rescue of the parathyroid hormone-related protein knockout mouse demonstrates that parathyroid hormone-related protein is essential for mammary gland development. Development, 125:1285-94. (PubMed:9477327)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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