PTH1R (parathyroid hormone 1 receptor)

2008-12-01  

Identity

HGNC
PTH1R
LOCATION
3p21.31
LOCUSID
5745
ALIAS
EKNS,PFE,PTHR,PTHR1

Other Information

Locus ID:

NCBI: 5745
MIM: 168468
HGNC: 9608
Ensembl: ENSG00000160801

Variants:

dbSNP: 5745
ClinVar: 5745
TCGA: ENSG00000160801
COSMIC: PTH1R

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160801ENST00000313049Q03431
ENSG00000160801ENST00000313049A0A024R2Z8
ENSG00000160801ENST00000418619Q03431
ENSG00000160801ENST00000418619A0A024R2Z8
ENSG00000160801ENST00000422115H7C0Q3
ENSG00000160801ENST00000427125E7EWE7
ENSG00000160801ENST00000428220F2Z314
ENSG00000160801ENST00000430002Q03431
ENSG00000160801ENST00000430002A0A024R2Z8
ENSG00000160801ENST00000449590Q03431
ENSG00000160801ENST00000449590A0A024R2Z8

Expression (GTEx)

0
50
100
150
200
250
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Neuroactive ligand-receptor interactionKEGGko04080
Neuroactive ligand-receptor interactionKEGGhsa04080
Endocrine and other factor-regulated calcium reabsorptionKEGGko04961
Endocrine and other factor-regulated calcium reabsorptionKEGGhsa04961
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR ligand bindingREACTOMER-HSA-500792
Class B/2 (Secretin family receptors)REACTOMER-HSA-373080
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (s) signalling eventsREACTOMER-HSA-418555

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
378404152024Identification of a novel heterozygous PTH1R variant in a Chinese family with incomplete penetrance.1
378404152024Identification of a novel heterozygous PTH1R variant in a Chinese family with incomplete penetrance.1
369391972023Parathyroid hormone receptor-1 signaling aggravates hepatic fibrosis through upregulating cAMP response element-binding protein-like 2.0
369895252023A Novel Heterozygous Missense Variant in Parathyroid Hormone 1 is Related to the Occurrence of Developmental Dysplasia of the Hip.0
371160112023Rare Variant of PTH1R Mutation in an Indian Family.0
372866112023Class B1 GPCR activation by an intracellular agonist.6
374800422023Identification of a novel PTH1R variant in a family with primary failure of eruption.1
369391972023Parathyroid hormone receptor-1 signaling aggravates hepatic fibrosis through upregulating cAMP response element-binding protein-like 2.0
369895252023A Novel Heterozygous Missense Variant in Parathyroid Hormone 1 is Related to the Occurrence of Developmental Dysplasia of the Hip.0
371160112023Rare Variant of PTH1R Mutation in an Indian Family.0
372866112023Class B1 GPCR activation by an intracellular agonist.6
374800422023Identification of a novel PTH1R variant in a family with primary failure of eruption.1
344641082022Molecular Mechanism of Ca(2+) in the Allosteric Regulation of Human Parathyroid Hormone Receptor-1.5
347528462022Enzalutamide-induced and PTH1R-mediated TGFBR2 degradation in osteoblasts confers resistance in prostate cancer bone metastases.5
351957942022Osteoporosis and its Association with Vitamin D Receptor, Oestrogen α Receptor, Parathyroid Receptor and Collagen Type I alpha Receptor Gene Polymorphisms with Bone Mineral Density: A Pilot Study from South Indian Postmenopausal Women of Tamil Nadu.1

Citation

Dessen P

PTH1R (parathyroid hormone 1 receptor)

Atlas Genet Cytogenet Oncol Haematol. 2008-12-01

Online version: http://atlasgeneticsoncology.org/gene/50463/css/card-gene.css