======= PTHLH =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: PTHLH
  * **<color #00a2e8>Official Name</color>**: parathyroid hormone like hormone
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=5744|5744]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P12272|P12272]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=PTHLH&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20PTHLH|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/168470|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Neuroendocrine peptide which is a critical regulator of cellular and organ growth, development, migration, differentiation and survival and of epithelial calcium ion transport. Regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth. Required for skeletal homeostasis. Promotes mammary mesenchyme differentiation and bud outgrowth by modulating mesenchymal cell responsiveness to BMPs. Upregulates BMPR1A expression in the mammary mesenchyme and this increases the sensitivity of these cells to BMPs and allows them to respond to BMP4 in a paracrine and/or autocrine fashion. BMP4 signaling in the mesenchyme, in turn, triggers epithelial outgrowth and augments MSX2 expression, which causes the mammary mesenchyme to inhibit hair follicle formation within the nipple sheath (By similarity). Promotes colon cancer cell migration and invasion in an integrin alpha-6/beta-1- dependent manner through activation of Rac1. {ECO:0000250, ECO:0000269|PubMed:20637541}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|Parathyroid|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|negative regulation of chondrocyte development|
|regulation of chondrocyte development|
|peptide hormone receptor binding|
|osteoblast development|
|cAMP metabolic process|
|negative regulation of chondrocyte differentiation|
|negative regulation of cartilage development|
|cyclic nucleotide metabolic process|
|bone mineralization|
|regulation of chondrocyte differentiation|
|regulation of cartilage development|
|biomineral tissue development|
|biomineralization|
|hormone activity|
|osteoblast differentiation|
|adenylate cyclase-activating G protein-coupled receptor signaling pathway|
|cAMP-mediated signaling|
|cyclic-nucleotide-mediated signaling|
|female pregnancy|
|adenylate cyclase-modulating G protein-coupled receptor signaling pathway|
|multi-multicellular organism process|
|G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger|
|ossification|
|purine ribonucleotide metabolic process|
|ribonucleotide metabolic process|
|purine nucleotide metabolic process|
|negative regulation of cell development|
|ribose phosphate metabolic process|
|second-messenger-mediated signaling|
|purine-containing compound metabolic process|
|epidermis development|
|nucleotide metabolic process|
|nucleoside phosphate metabolic process|
|skeletal system development|
|nucleobase-containing small molecule metabolic process|
|negative regulation of cell population proliferation|
|negative regulation of cell differentiation|
|organophosphate metabolic process|
|positive regulation of cell population proliferation|
|regulation of cell development|
|negative regulation of developmental process|
|Golgi apparatus|
|multi-organism reproductive process|
|carbohydrate derivative metabolic process|
|cell-cell signaling|
|negative regulation of multicellular organismal process|
|G protein-coupled receptor signaling pathway|
|reproductive process|
|reproduction|
|extracellular space|
|regulation of cell population proliferation|
|cell development|
|intracellular signal transduction|
|small molecule metabolic process|
|tissue development|
|regulation of cell differentiation|
|extracellular region|
</modal>
\\

 === CRISPR Data ===
<button type='default' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
No hits were found.
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:r:rrm1|RRM1]]|0.422|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 13499
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -6.6 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='PTHLH Expression in NALM6 Cells: -6.6'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>