Version 5.4
Homo sapiens Gene: PTHLH
Summary
InnateDB Gene IDBG-24893.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PTHLH
Gene Name parathyroid hormone-like hormone
Synonyms BDE2; HHM; PLP; PTHR; PTHRP
Species Homo sapiens
Ensembl Gene ENSG00000087494
Encoded Proteins
IDBP-24897
parathyroid hormone-like hormone
IDBP-238691
parathyroid hormone-like hormone
IDBP-238693
parathyroid hormone-like hormone
IDBP-584436
parathyroid hormone-like hormone
IDBP-591030
parathyroid hormone-like hormone
IDBP-585028
parathyroid hormone-like hormone
IDBP-599696
parathyroid hormone-like hormone
IDBP-584895
parathyroid hormone-like hormone
IDBP-603058
parathyroid hormone-like hormone
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is a member of the parathyroid hormone family. This hormone regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth. This hormone is involved in lactation possibly by regulating the mobilization and transfer of calcium to the milk. The receptor of this hormone, PTHR1, is responsible for most cases of humoral hypercalcemia of malignancy. Four alternatively spliced transcript variants encoding two distinct isoforms have been observed. There is also evidence for alternative translation initiation from non-AUG (CUG and GUG) start sites, in-frame and downstream of the initiator AUG codon, to give rise to nuclear forms of this hormone. [provided by RefSeq, Jul 2008]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:27958084-27972705
Strand Reverse strand
Band p11.22
Transcripts
ENST00000201015 ENSP00000201015
ENST00000395872 ENSP00000379213
ENST00000395868 ENSP00000379209
ENST00000539239 ENSP00000441571
ENST00000545234 ENSP00000441765
ENST00000538310 ENSP00000441890
ENST00000535992 ENSP00000440613
ENST00000542963 ENSP00000444519
ENST00000534890 ENSP00000445157
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:0001958 endochondral ossification
GO:0002076 osteoblast development
GO:0007189 adenylate cyclase-activating G-protein coupled receptor signaling pathway
GO:0007267 cell-cell signaling
GO:0007492 endoderm development
GO:0007565 female pregnancy
GO:0008284 positive regulation of cell proliferation
GO:0008285 negative regulation of cell proliferation
GO:0008544 epidermis development
GO:0010468 regulation of gene expression
GO:0016485 protein processing
GO:0030819 positive regulation of cAMP biosynthetic process
GO:0030855 epithelial cell differentiation
GO:0032330 regulation of chondrocyte differentiation
GO:0032331 negative regulation of chondrocyte differentiation
GO:0043129 surfactant homeostasis
GO:0043433 negative regulation of sequence-specific DNA binding transcription factor activity
GO:0046058 cAMP metabolic process
GO:0048286 lung alveolus development
GO:0060649 mammary gland bud elongation
GO:0060659 nipple sheath formation
Cellular Component
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000048776
View Gene Order
ENSBTAG00000006538
Not yet available
Pathways
NETPATH
REACTOME
REACT_19327
G alpha (s) signalling events pathway
REACT_18372
Class B/2 (Secretin family receptors) pathway
REACT_14797
Signaling by GPCR pathway
REACT_111102
Signal Transduction pathway
REACT_19184
GPCR downstream signaling pathway
REACT_21340
GPCR ligand binding pathway
KEGG
INOH
PID NCI
hedgehog_2pathway
Signaling events mediated by the Hedgehog family
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.607264
RefSeq NM_002820 NM_198964 NM_198965 NM_198966 XM_006719115
HUGO
OMIM
CCDS CCDS44853 CCDS8715
HPRD 01348
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca