• Gene id: 5744

Gene Summary

• Gene Symbol: PTHLH   Gene   UCSC   Ensembl
• Aliases: BDE2, HHM, PLP, PTHR, PTHRP
• Gene name: parathyroid hormone like hormone
• Alternate names: parathyroid hormone-related protein, PTH-rP, PTH-related protein, osteostatin, parathyroid hormone-like hormone preproprotein, parathyroid hormone-like related protein,
• Gene location: 12p11.22 (27972863: 27958083)     Exons: 8     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 609671

Protein Summary

• Protein general information: P12272  
  • Name: Parathyroid hormone related protein (PTH rP) (PTHrP) (Parathyroid hormone like protein) (PLP) [Cleaved into: PTHrP[1 36]; PTHrP[38 94]; Osteostatin (PTHrP[107 139])]
  • Length: 177  
  • Mass: 20194
  • Tissue specificity: Ubiquitous. Also expressed in the mammary gland.
• Sequence:

  MQRRLVQQWSVAVFLLSYAVPSCGRSVEGLSRRLKRAVSEHQLLHDKGKSIQDLRRRFFLHHLIAEIHTAEIRAT
  SEVSPNSKPSPNTKNHPVRFGSDDEGRYLTQETNKVETYKEQPLKTPGKKKKGKPGKRKEQEKKKRRTRSAWLDS
  GVTGSGLEGDHLSDTSTTSLELDSRRH

• Structural information:
  • Interpro: IPR003626  IPR001415  
  • Prosite: PS00335
  • PDB: 1BZG 1ET3 1M5N 3FFD 3H3G
  • PDBsum: 1BZG 1ET3 1M5N 3FFD 3H3G
  • STRING: ENSP00000441765
• Other Databases: GeneCards:  PTHLH  Malacards:  PTHLH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002076	osteoblast development	IBA	biological process
GO:0005179	hormone activity	IBA	molecular function
GO:0051428	peptide hormone receptor binding	IBA	molecular function
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA	biological process
GO:0032330	regulation of chondrocyte differentiation	IBA	biological process
GO:0051428	peptide hormone receptor binding	IDA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005179	hormone activity	IEA	molecular function
GO:0030282	bone mineralization	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005179	hormone activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005179	hormone activity	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0005615	extracellular space	TAS	cellular component
GO:0007267	cell-cell signaling	TAS	biological process
GO:0007565	female pregnancy	TAS	biological process
GO:0008284	positive regulation of cell population proliferation	TAS	biological process
GO:0008285	negative regulation of cell population proliferation	TAS	biological process
GO:0008544	epidermis development	TAS	biological process
GO:0046058	cAMP metabolic process	TAS	biological process
GO:0061182	negative regulation of chondrocyte development	IDA	biological process
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	biological process
GO:0001501	skeletal system development	IDA	biological process
GO:0032331	negative regulation of chondrocyte differentiation	IDA	biological process
GO:0010468	regulation of gene expression	IDA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04928	Parathyroid hormone synthesis, secretion and action

Diseases

Associated diseases	References
Brachydactyly	KEGG:H00482
Brachydactyly	KEGG:H00482
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray