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General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| PTHLH | 5744 | parathyroid hormone-like hormone | 12 | PTHRP, HHM, PLP, PTHR |
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
- PPi
- Pathway
- Structural
- Domain
- Ontology
- SNP
- Drug
- External Links
Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 16421660 | 2006 | Cell line : - Source : - Sample Type : Tissue specimens No. of Sample : 31 Stage : DukesA, B, C | - | Frameshift Mutation | - | PTHLH gene alteration contribute to the development of early colorectal cancer. |
Gene Details
| Gene Type | protein coding |
|---|---|
| Gene Family | Endogenous ligands |
| 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] |
| Chromosome | 12 |
| Location | 12p12.1-p1 |
| Start | 28111017 |
| End | 28125664 |
| Strand | - |
| Gene Sequence | Download Select all |
| Length | 14648 |
| OMIM ID | 168470 |
| HGNC ID | HGNC:9607 |
| Unigene ID | Hs.591159 |
| Ensembl ID | ENSG00000087494 |
| PharmGKB ID | PA33952 |
mRNA Information
| mRNA ID | ?NM_002820.2 |
|---|---|
| Exon | join(1..209,713..805,2465..2707,3216..3338,8962..9384, 14164..14648) | mRNA Sequence | Download Select all |
| Length | 1576 |
Protein Information
| Protein ID | NP_002811.1 |
|---|---|
| Protein Name | parathyroid hormone-like hormone |
| Molecular Wt. (Da) | 67539 |
| Protein Sequence | Download Select all |
| Length | 177 |
| Uniprot ID | O75473 |
| Ensembl Protein ID | ENSP00000266674 |
Post-translational Modification Information (Source : HPRD)
| Residue | Type | site |
|---|---|---|
| F | Proteolytic Cleavage | 59 |
| F | Proteolytic Cleavage | 59 |
| F | Proteolytic Cleavage | 59 |
| F | Proteolytic Cleavage | 59 |
| T | Phosphorylation | 108 |
| T | Phosphorylation | 108 |
| T | Phosphorylation | 108 |
| T | Phosphorylation | 108 |
Enzyme Information
No matching records could be found.
PPi Information
(Click to view network : Source STRING) View
| Interactant Gene ID (Source: HPRD) | Gene Symbol | HPRD ID | Ref Seq ID | Technique | References |
|---|---|---|---|---|---|
| 408 | ARRB1 | 146 | NP_004032.2 | in vivo | 12220636 |
| 3569 | IL6 | 970 | NP_000591.1 | in vitro | 12000745 |
| 5745 | PTH1R | 1347 | NP_000307.1 | in vivo | 9108031 |
Pathway Information
No matching records could be found.
Structure Information
No matching records could be found.
Domain Information
| ID | Location | Description |
|---|---|---|
| pfam01279 | 34-117 | Parathyroid |
| cl23507 | 34-117 | Parathyroid superfamily |
| smart00087 | 35-70 | PTH |
| cl23045 | 35-70 | PTH superfamily |
Ontology Information
| HPRD ID | 10350 |
|---|---|
| Molecular Class | Peptide hormone |
| Molecular Function | Transcription regulator activity (GO:0030528) |
| Biological Process | Regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism (GO:0019219) |
Drug Information
No matching records could be found.