InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PTHLH

Summary

InnateDB Protein

IDBP-584436.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PTHLH

Protein Name

parathyroid hormone-like hormone

Synonyms

BDE2; HHM; PLP; PTHR; PTHRP;

Species

Homo sapiens

Ensembl Protein

ENSP00000441571

InnateDB Gene

IDBG-24893 (PTHLH)

Protein Structure

UniProt Annotation

Function

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:0000269PubMed:20637541}.Osteostatin is a potent inhibitor of osteoclastic bone resorption. {ECO:0000269PubMed:20637541}.

Subcellular Localization

Cytoplasm. Nucleus. Secreted.

Disease Associations

Brachydactyly E2 (BDE2) [MIM:613382]: A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type E is characterized by shortening of the fingers mainly in the metacarpals and metatarsals. Wide variability in the number of digits affected occurs from person to person, even in the same family. Some individuals are moderately short of stature. In brachydactyly type E2 variable combinations of metacarpals are involved, with shortening also of the first and third distal and the second and fifth middle phalanges. {ECO:0000269PubMed:20170896}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous. Also expressed in the mammary gland.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.

Experimentally validated
Total	5 [view]
Protein-Protein	5 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005179	hormone activity
GO:0051428	peptide hormone receptor binding

Biological Process

GO:0001501	skeletal system development
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway
GO:0007267	cell-cell signaling
GO:0007565	female pregnancy
GO:0008285	negative regulation of cell proliferation
GO:0008544	epidermis development
GO:0010468	regulation of gene expression
GO:0030819	positive regulation of cAMP biosynthetic process
GO:0032331	negative regulation of chondrocyte differentiation
GO:0046058	cAMP metabolic process