Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | PTHLH |
| Gene Name: | PTHLH |
| Protein Full Name: | Parathyroid hormone-related protein |
| Alias: | HHM; Osteostatin; Parathyroid hormone-like hormone; PLP; PTHLH; PTHR; PTHRP; PTH-rP; PTHrP[107-139] |
| Mass (Da): | 20190 |
| Number AA: | 177 |
| UniProt ID: | P12272 |
| Locus ID: | 5744 |
| COSMIC ID: | PTHLH |
| Gene location on chromosome: | 12p11.22; 12p12.1-p11.2 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 19688 |
| Percent of cancer specimens with mutations: | 0.28 |
| Normal role description: | PTHLH is a secreted prohormone peptide which is post-translationally modified into multiple isoforms to regulate different processes. Three major isoforms have been identified,PTHLP (1-36), (38-94), (107-139), which can exert their effects on different receptors in a predominantly paracrine mechanism. PTHLH products can function in bone and mammary gland development, skeletal homeostasis and as a muscle relaxant. A "intracrine" derivative of PTHLH exists which is translocated to the nucleus to and is thought to activate cell growth and regulate cell adhesion. Elevated expression of PTHLH is observed in gastroesophageal, prostate cancer and breast cancer carcinomas. PTHLH is suggested to increase cellular proliferation through induction of transcription of the Type 1 Parathyroid Hormone Receptor (PTH1R) in an autocrine mechanism. PTHLH may also mediate abnormal calcium metabolism caused by tumours. Increased levels of calcium in the blood (Malignant Humoral hypercalcemia) caused by PTHLH overexpression leads to a poor prognosis due to cachexia development. Breast cancers may also mediate osteolytic metastasis which is dependent on PTHLP expression. PTHLP induces chondrocyte proliferation leading to bone-specific malignancies. PTHLH can be classified as an oncogene. |