PTHLH
entrez
5744
canonical
uniprot
P12272
canonical
ensembl
ENSG00000087494
resolver
ensp
ENSP00000201015
resolver
ensp
ENSP00000379209
resolver
ensp
ENSP00000441765
resolver
ensp
ENSP00000521994
resolver
ensp
ENSP00000633727
resolver
ensp
ENSP00000633729
resolver
genesymbol
PTHLH
resolver
genesymbol_syn
PTHRP
resolver
hgnc
HGNC:9607
resolver
uniprot
Q15251
resolver
uniprot
Q53XY9
resolver
uniprot
Q6FH74
resolver
uniprot_entry
PTHR_HUMAN
resolver
uniprot_entry
Q53XY9_HUMAN
resolver
uniprot_sec
Q15251
resolver
uniprot_sec
Q6FH74
resolver
amino_acid_sequence
MQRRLVQQWSVAVFLLSYAVPSCGRSVEGLSRRLKRAVSEHQLLHDKGKSIQDLRRRFFLHHLIAEIHTAEIRATSEVSPNSKPSPNTKNHPVRFGSDDEGRYLTQETNKVETYKEQPLKTPGKKKKGKPGKRKEQEKKKRRTRSAWLDSGVTGSGLEGDHLSDTSTTSLELDSRRH
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:20170896}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Neuroendocrine peptide which is a critical regulator of cellular and organ growth, development, migration, differentiation and survival and of epithelial calcium ion transport (PubMed:12538599, PubMed:35932760, PubMed:3616618). Acts by binding to its receptor, PTH1R, activating G protein-coupled receptor signaling (PubMed:19674967, PubMed:35932760). Regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth (By similarity). Required for skeletal homeostasis (PubMed:12538599). Promotes mammary mesenchyme differentiation and bud outgrowth by modulating mesenchymal cell responsiveness to BMPs (PubMed:12538599). Up-regulates 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 (By similarity). 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 (PubMed:20637541). {ECO:0000250|UniProtKB:P22858, ECO:0000269|PubMed:19674967, ECO:0000269|PubMed:20637541, ECO:0000269|PubMed:35932760, ECO:0000269|PubMed:3616618, ECO:0000303|PubMed:12538599}.; FUNCTION: [Osteostatin]: Potent inhibitor of osteoclastic bone resorption. {ECO:0000269|PubMed:1915066, ECO:0000269|PubMed:1954916, ECO:0000269|PubMed:20637541, ECO:0000269|PubMed:9048639, ECO:0000269|PubMed:9144344}.
uniprot
proteins
mass_dalton
20194
uniprot
proteins
mutagenesis
MUTAGEN 57; /note="R->A: Strongly reduced affinity for PTH1R."; /evidence="ECO:0000269|PubMed:19674967"; MUTAGEN 59; /note="F->A: Reduced affinity for PTH1R."; /evidence="ECO:0000269|PubMed:19674967"; MUTAGEN 60; /note="L->A,K: Strongly reduced affinity for PTH1R."; /evidence="ECO:0000269|PubMed:19674967"; MUTAGEN 63; /note="L->A: Reduced affinity for PTH1R."; /evidence="ECO:0000269|PubMed:19674967"; MUTAGEN 64; /note="I->A: Reduced affinity for PTH1R."; /evidence="ECO:0000269|PubMed:19674967"; MUTAGEN 68; /note="H->A: Reduced affinity for PTH1R."; /evidence="ECO:0000269|PubMed:19674967
uniprot
proteins
post_translational_modification
PTM: There are 3 principal secretory forms, called PTHrP[1-36], PTHrP[38-94], and osteostatin (PTHrP[107-139]) arising from endoproteolytic cleavage of the initial translation product. Each of these secretory forms is believed to have one or more of its own receptors that mediates the normal paracrine, autocrine and endocrine actions. {ECO:0000303|PubMed:12538599}.
uniprot
proteins
protein_family
Parathyroid hormone family
uniprot
proteins
pubmed
10050767
uniprot
proteins
pubmed
11401507
uniprot
proteins
pubmed
12504010
uniprot
proteins
pubmed
12538599
uniprot
proteins
pubmed
12852260
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
1915066
uniprot
proteins
pubmed
1954916
uniprot
proteins
pubmed
19674967
uniprot
proteins
pubmed
20170896
uniprot
proteins
pubmed
20637541
uniprot
proteins
pubmed
2708388
uniprot
proteins
pubmed
2744490
uniprot
proteins
pubmed
2829195
uniprot
proteins
pubmed
2885845
uniprot
proteins
pubmed
2928340
uniprot
proteins
pubmed
3290897
uniprot
proteins
pubmed
35932760
uniprot
proteins
pubmed
3616618
uniprot
proteins
pubmed
9048639
uniprot
proteins
pubmed
9144344
uniprot
proteins
sequence_length
177
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:3616618}. Cytoplasm {ECO:0000269|PubMed:12852260}. Nucleus {ECO:0000269|PubMed:12852260}.
uniprot
proteins