PTH1R

GENE INFORMATION

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Gene name

PTH1R (HGNC Symbol)

Synonyms

PTHR, PTHR1

Description

parathyroid hormone 1 receptor (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene is a member of the G-protein coupled receptor family 2. This protein is a receptor for parathyroid hormone (PTH) and for parathyroid hormone-like hormone (PTHLH). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system. Defects in this receptor are known to be the cause of Jansen's metaphyseal chondrodysplasia (JMC), chondrodysplasia Blomstrand type (BOCD), as well as enchodromatosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]

Chromosome

3 (Chromosome progress)

Cytoband

p21.31

Chromosome location (bp)

46919236 - 46945287

Ensembl

ENSG00000160801 (version 73.37)

Entrez gene

5745

UniProt

Q03431 (UniProt - Evidence at protein level)

neXtProt

NX_Q03431

Antibodypedia

PTH1R antibodies
 

PROTEIN VIEW

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PTH1R-001
 
PTH1R-002
 
PTH1R-003
 
PTH1R-004
 
PTH1R-005
 
PTH1R-008
 
PTH1R-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PTH1R-001 ENSP00000321999
ENST00000313049
Q03431
Show all »
Show » Show » 593 66.4 Yes 7
PTH1R-002 ENSP00000402723
ENST00000449590
Q03431
Show all »
Show » Show » 593 66.4 Yes 7
PTH1R-003 ENSP00000411424
ENST00000418619
Q03431
Show all »
Show » Show » 593 66.4 Yes 7
PTH1R-004 ENSP00000400977
ENST00000427125
E7EWE7
Show all »
Show » Show » 527 59.5 Yes 7
PTH1R-005 ENSP00000389811
ENST00000428220
F2Z314
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Show » Show » 333 37.6 Yes 3
PTH1R-008 ENSP00000396176
ENST00000422115
H7C0Q3
Show all »
Show » Show » 182 20 No 0
PTH1R-201 ENSP00000413774
ENST00000430002
Q03431
Show all »
Show » Show » 593 66.4 Yes 7