PTH1R (parathyroid hormone 1 receptor)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5745
Gene name Gene Name - the full gene name approved by the HGNC.
Parathyroid hormone 1 receptor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PTH1R
Synonyms (NCBI Gene) Gene synonyms aliases
EKNS, PFE, PTHR, PTHR1
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p21.31
Summary Summary of gene provided in NCBI Entrez Gene.
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 whi
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(11)
SNP ID Visualize variation Clinical significance Consequence
rs121434597 A>G Pathogenic Missense variant, coding sequence variant
rs121434598 A>C Pathogenic Missense variant, synonymous variant, coding sequence variant
rs121434599 C>T Pathogenic Missense variant, coding sequence variant
rs121434600 T>G Pathogenic Missense variant, coding sequence variant
rs121434602 C>G,T Pathogenic Missense variant, coding sequence variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(55)
GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development IEA
GO:0001501 Process Skeletal system development TAS 9745456
GO:0001503 Process Ossification IEA
GO:0001701 Process In utero embryonic development IEA
GO:0002062 Process Chondrocyte differentiation IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
168468 9608 ENSG00000160801
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q03431
Protein name Parathyroid hormone/parathyroid hormone-related peptide receptor (PTH/PTHrP type I receptor) (PTH/PTHr receptor) (Parathyroid hormone 1 receptor) (PTH1 receptor)
Protein function G-protein-coupled receptor for parathyroid hormone (PTH) and for parathyroid hormone-related peptide (PTHLH) (PubMed:10913300, PubMed:18375760, PubMed:19674967, PubMed:27160269, PubMed:30975883, PubMed:35932760, PubMed:8397094). Ligand binding c
PDB 1BL1 , 3C4M , 3H3G , 3L2J , 4Z8J , 5EMB , 6NBF , 6NBH , 6NBI , 7UZO , 7UZP , 7VVJ , 7VVK , 7VVL , 7VVM , 7VVN , 7VVO , 7Y35 , 7Y36 , 8BIA , 8BJ0 , 8D51 , 8D52 , 8FLQ , 8FLR , 8FLS , 8FLT , 8FLU , 8GW8 , 8HA0 , 8HAF , 8HAO , 8JR9 , 9JR2 , 9JR3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02793 HRM 105 → 173 Hormone receptor domain Family
PF00002 7tm_2 184 → 455 7 transmembrane receptor (Secretin family) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in most tissues. Most abundant in kidney, bone and liver. {ECO:0000269|PubMed:8397094}.
Sequence 
MGTARIAPGLALLLCCPVLSSAYALVDADDVMTKEEQIFLLHRAQAQCEKRLKEVLQRPA
SIMESDKGWTSASTSGKPRKDKASGKLYPESEEDKEAPTGSRYRGRPCLPEWDHILCWPL
GAPGEVVAVPCPDYIYDFNHKGHAYRRCDRNGSWELVPGHNRTWANYSECVKFLTNETRE
REVFDRLGMIYTVGYSVSLASLTVAVLILAYFRRLHCTRNYIHMHLFLSFMLRAVSIFVK
DAVLYSGATLDEAERLTEEELRAIAQAPPPPATAAAGYAGCRVAVTFFLYFLATNYYWIL
VEGLYLHSLIFMAFFSEKKYLWGFTVFGWGLPAVFVAVWVSVRATLANTGCWDLSSGNKK
WIIQVPILASIVLNFILFINIVRVLATKLRETNAGRCDTRQQYRKLLKSTLVLMPLFGVH
YIVFMATPYTEVSGTLWQVQMHYEMLFNSFQGFFVAIIYCFCNGEVQAEIKKSWSRWTLA
LDFKRKARSGSSSYSYGPMVSHTSVTNVGPRVGLGLPLSPRLLPTATTNGHPQLPGHAKP
GTPALETLETTPPAMAAPKDDGFLNGSCSGLDEEASGPERPPALLQEEWETVM
Sequence length 593
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Neuroactive ligand-receptor interaction
Hormone signaling
Parathyroid hormone synthesis, secretion and action
Endocrine and other factor-regulated calcium reabsorption 		  Class B/2 (Secretin family receptors)
G alpha (s) signalling events
ADORA2B mediated anti-inflammatory cytokines production
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Chondrodysplasia Punctata Chondrodysplasia Blomstrand type rs398122843, rs121434599, rs121434604, rs2107055197 N/A
Eiken Syndrome eiken syndrome rs121434603 N/A
Failure Of Tooth Eruption primary failure of tooth eruption rs1575524795, rs2107035467, rs121434597, rs121434605, rs769180471 N/A
Metaphyseal Chondrodysplasia metaphyseal chondrodysplasia, jansen type rs121434597, rs121434598, rs769180471, rs121434600, rs121434602 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Connective Tissue Disease Connective tissue disorder N/A N/A ClinVar
Diabetes Type 2 diabetes N/A N/A GWAS
Gout Gout N/A N/A GWAS
Show/Hide Text Mining Associations (54)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
ACTH Secreting Pituitary Adenoma Associate 35960046
Alport Syndrome Mental Retardation Midface Hypoplasia and Elliptocytosis Associate 37840415
Bone Diseases Associate 11012879, 25354236
Breast Neoplasms Associate 10606734, 7599071, 9376272
Calcinosis Cutis Associate 9376272
Cartilage Diseases Associate 19723327
Chondrodysplasia blomstrand type Associate 19061984, 24058597, 37840415, 9649554
Chondroma Associate 37840415
Chondrosarcoma Stimulate 15685701
Chronic Kidney Disease Mineral and Bone Disorder Associate 29788189