PTH1R

GENERAL INFORMATION

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Gene name

PTH1R

Gene description

Parathyroid hormone 1 receptor

Protein class

Disease related genes
G-protein coupled receptors
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Transporters

Predicted localization

Intracellular,Membrane

Number of transcripts

6
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enriched (kidney)
GTEx:Tissue enriched (kidney)

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic and membranous expression in selected tissues at variable levels, including subsets of cells in kidney.

ANTIBODY RELIABILITY

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Data reliability
description

Presumed off target binding observed and disregarded. Pending external verification.

Data reliability

Uncertain based on 1 antibody.
HPA007978
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enriched (kidney)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enriched (kidney)

Organ

Expression



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

Cytoband

p21.31

Chromosome location (bp)

46877746 - 46903799

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000160801 (version 78.38)

Entrez gene

5745

UniProt

Q03431 (UniProt - Evidence at protein level)

neXtProt

NX_Q03431

Antibodypedia

PTH1R antibodies


PROTEIN BROWSER

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ENST00000313049
 
ENST00000418619
 
ENST00000422115
 
ENST00000427125
 
ENST00000430002
 
ENST00000449590
 
 
 
 


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-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