InnateDB Protein
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IDBP-238693.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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PTHLH
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Protein Name
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parathyroid hormone-like hormone
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Synonyms
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BDE2; HHM; PLP; PTHR; PTHRP;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000379209
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InnateDB Gene
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IDBG-24893 (PTHLH)
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Protein Structure
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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}.
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Subcellular Localization |
Cytoplasm. Nucleus. Secreted.
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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.
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Tissue Specificity |
Ubiquitous. Also expressed in the mammary gland.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
5
[view]
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Protein-Protein |
5
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001415
Parathyroid hormone/parathyroid hormone-related protein
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PFAM |
PF01279
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PRINTS |
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PIRSF |
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SMART |
SM00087
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TIGRFAMs |
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Modification |
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SwissProt |
P12272
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PhosphoSite |
PhosphoSite-P12272
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TrEMBL |
Q53XY9
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UniProt Splice Variant |
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Entrez Gene |
5744
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UniGene |
Hs.607264
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RefSeq |
NP_945315
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HUGO |
HGNC:9607
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OMIM |
168470
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CCDS |
CCDS8715
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HPRD |
01348
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IMGT |
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EMBL |
AC008011
AK313476
BC005961
BT007178
CH471094
CR541882
J03580
J03802
M17183
M24348
M24349
M24350
M24351
M34071
X14304
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GenPept |
AAA60216
AAA60217
AAA60218
AAA60221
AAA60358
AAA60359
AAA60360
AAH05961
AAP35842
BAG36261
CAA32480
CAG46680
EAW96572
EAW96573
EAW96576
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