Seroatlas · Human Serome Atlas

PTH1R

Parathyroid hormone/parathyroid hormone-related peptide receptor

Also known as: PTH1R_HUMAN, PTHR, PTHR1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q03431
Gene
PTH1R
Ensembl
ENSG00000160801
Chromosome
3
Canonical length
593 aa
Protein class
Disease related genes, FDA approved drug targets, G-protein coupled receptors, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location
Nucleoli,Plasma membrane,Cytosol
Quaternary structure
Homodimer

OverviewNCBI 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 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]

Canonical amino-acid sequenceUniProt

593 residues, UniProt reviewed canonical sequence.

>Q03431|PTH1R
     1  MGTARIAPGL ALLLCCPVLS SAYALVDADD VMTKEEQIFL LHRAQAQCEK RLKEVLQRPA
    61  SIMESDKGWT SASTSGKPRK DKASGKLYPE SEEDKEAPTG SRYRGRPCLP EWDHILCWPL
   121  GAPGEVVAVP CPDYIYDFNH KGHAYRRCDR NGSWELVPGH NRTWANYSEC VKFLTNETRE
   181  REVFDRLGMI YTVGYSVSLA SLTVAVLILA YFRRLHCTRN YIHMHLFLSF MLRAVSIFVK
   241  DAVLYSGATL DEAERLTEEE LRAIAQAPPP PATAAAGYAG CRVAVTFFLY FLATNYYWIL
   301  VEGLYLHSLI FMAFFSEKKY LWGFTVFGWG LPAVFVAVWV SVRATLANTG CWDLSSGNKK
   361  WIIQVPILAS IVLNFILFIN IVRVLATKLR ETNAGRCDTR QQYRKLLKST LVLMPLFGVH
   421  YIVFMATPYT EVSGTLWQVQ MHYEMLFNSF QGFFVAIIYC FCNGEVQAEI KKSWSRWTLA
   481  LDFKRKARSG SSSYSYGPMV SHTSVTNVGP RVGLGLPLSP RLLPTATTNG HPQLPGHAKP
   541  GTPALETLET TPPAMAAPKD DGFLNGSCSG LDEEASGPER PPALLQEEWE TVM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PTH1R can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
7
Mean surface accessibility (rSASA)
0.43
Highest tissue expression
584 nTPM

Expression across tissuesHPA

Tissue

  • kidney: 584 nTPM
  • liver: 84 nTPM
  • adrenal gland: 74 nTPM
  • spleen: 53 nTPM
  • cervix: 43 nTPM
  • midbrain: 36 nTPM

Single-cell type

  • podocytes: 1,120 nCPM
  • proximal tubule cells: 1,001 nCPM
  • distal convoluted tubule cells: 339 nCPM
  • loop of henle epithelial cells: 237 nCPM
  • renal connecting tubule cells: 194 nCPM
  • hepatic stellate cells: 142 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • cerebral cortex: 27 nTPM
  • pons: 23 nTPM
  • medulla oblongata: 22 nTPM
  • thalamus: 21 nTPM
  • cerebellum: 21 nTPM
  • amygdala: 19 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PTH1R.

Disease | AllUniProt

Conditions PTH1R is implicated in, by any mechanism.

Disease | GeneticClinVar

32 pathogenic / likely-pathogenic of 469 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Primary failure of tooth eruption
  • Metaphyseal chondrodysplasia, Jansen type
  • Chondrodysplasia Blomstrand type
  • Eiken syndrome
  • Pseudohypoparathyroidism

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.41
gnomAD pLI
0.57
gnomAD missense Z
1.65
DepMap mean gene effect
-0.07
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PTH1R in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PTH1R as an antibody target. Whether an autoantibody or antibody against PTH1R could matter depends on whether native PTH1R is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PTH1R is annotated at the cell surface, where native PTH1R is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label PTH1R as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PTH1R. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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