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Protein

Parathyroid hormone

Gene

PTH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

PTH elevates calcium level by dissolving the salts in bone and preventing their renal excretion. Stimulates [1-14C]-2-deoxy-D-glucose (2DG) transport and glycogen synthesis in osteoblastic cells.1 Publication

GO - Molecular functioni

  • hormone activity Source: CAFA
  • parathyroid hormone receptor binding Source: GO_Central
  • peptide hormone receptor binding Source: UniProtKB
  • protein N-terminus binding Source: CAFA
  • receptor ligand activity Source: CAFA
  • transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding Source: UniProtKB
  • type 1 parathyroid hormone receptor binding Source: CAFA

GO - Biological processi

Keywordsi

Molecular functionHormone

Enzyme and pathway databases

ReactomeiR-HSA-373080 Class B/2 (Secretin family receptors)
R-HSA-418555 G alpha (s) signalling events
SIGNORiP01270

Names & Taxonomyi

Protein namesi
Recommended name:
Parathyroid hormone
Short name:
PTH
Alternative name(s):
Parathormone
Parathyrin
Gene namesi
Name:PTH
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000152266.6
HGNCiHGNC:9606 PTH
MIMi168450 gene
neXtProtiNX_P01270

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Hypoparathyroidism, familial isolated (FIH)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by hypocalcemia and hyperphosphatemia due to inadequate secretion of parathyroid hormone. Clinical features include seizures, tetany and cramps.
See also OMIM:146200
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00604718C → R in FIH; dominant; leads to inefficient processing of the precursor; the expressed mutant hormone is trapped intracellularly in the endoplasmic reticulum resulting in apoptosis; mutant protein-expressing cells also show marked up-regulation of the endoplasmic reticulum stress-responsive hormones HSPA5 and EIF2AK3 and the proapoptotic transcription factor DDIT3. 3 PublicationsCorresponds to variant dbSNP:rs104894271EnsemblClinVar.1
Natural variantiVAR_01846423S → P in FIH; recessive; might lead to inefficient processing of the precursor. 1 PublicationCorresponds to variant dbSNP:rs104894272EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi16A → R: Abolishes processing of the precursor; when associated with variant R-18. 1 Publication1
Mutagenesisi51R → A: Reduced affinity for PTH1R. 1 Publication1
Mutagenesisi54W → A: Strongly reduced affinity for PTH1R. 1 Publication1
Mutagenesisi55L → A: Strongly reduced affinity for PTH1R. 1 Publication1
Mutagenesisi58K → A: Reduced affinity for PTH1R. 1 Publication1
Mutagenesisi59L → A: Strongly reduced affinity for PTH1R. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi5741
MalaCardsiPTH
MIMi146200 phenotype
OpenTargetsiENSG00000152266
Orphaneti189466 Familial isolated hypoparathyroidism due to impaired PTH secretion
PharmGKBiPA33951

Chemistry databases

DrugBankiDB05883 ABX-PTH
DB04419 Norleucine

Polymorphism and mutation databases

BioMutaiPTH
DMDMi131547

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 252 PublicationsAdd BLAST25
PropeptideiPRO_000002324926 – 311 Publication6
ChainiPRO_000002325032 – 115Parathyroid hormoneAdd BLAST84

Keywords - PTMi

Cleavage on pair of basic residues

Proteomic databases

PaxDbiP01270
PRIDEiP01270
ProteomicsDBi51366

PTM databases

iPTMnetiP01270
PhosphoSitePlusiP01270

Miscellaneous databases

PMAP-CutDBiP01270

Expressioni

Gene expression databases

BgeeiENSG00000152266 Expressed in 51 organ(s), highest expression level in thyroid gland
CleanExiHS_PTH
GenevisibleiP01270 HS

Organism-specific databases

HPAiCAB000072
CAB023409
CAB026363
HPA048540

Interactioni

Subunit structurei

Interacts with PTH1R (via N-terminal extracellular domain).1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi111713, 6 interactors
IntActiP01270, 2 interactors
STRINGi9606.ENSP00000282091

Structurei

Secondary structure

1115
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP01270
SMRiP01270
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP01270

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni51 – 69Important for receptor bindingAdd BLAST19

Sequence similaritiesi

Belongs to the parathyroid hormone family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410J02X Eukaryota
ENOG410ZH2H LUCA
GeneTreeiENSGT00390000018603
HOGENOMiHOG000033707
HOVERGENiHBG008319
InParanoidiP01270
KOiK05261
OMAiEIQFMHN
OrthoDBiEOG091G13ZF
PhylomeDBiP01270
TreeFamiTF336197

Family and domain databases

InterProiView protein in InterPro
IPR003625 PTH
IPR001415 PTH/PTH-rel
PANTHERiPTHR10541:SF2 PTHR10541:SF2, 1 hit
PfamiView protein in Pfam
PF01279 Parathyroid, 1 hit
PIRSFiPIRSF001832 PTH, 1 hit
SMARTiView protein in SMART
SM00087 PTH, 1 hit
PROSITEiView protein in PROSITE
PS00335 PARATHYROID, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P01270-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MIPAKDMAKV MIVMLAICFL TKSDGKSVKK RSVSEIQLMH NLGKHLNSME
60 70 80 90 100
RVEWLRKKLQ DVHNFVALGA PLAPRDAGSQ RPRKKEDNVL VESHEKSLGE
110
ADKADVNVLT KAKSQ
Length:115
Mass (Da):12,861
Last modified:August 13, 1987 - v1
Checksum:i849015736A6E5597
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti107N → D AA sequence (PubMed:728431).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00604718C → R in FIH; dominant; leads to inefficient processing of the precursor; the expressed mutant hormone is trapped intracellularly in the endoplasmic reticulum resulting in apoptosis; mutant protein-expressing cells also show marked up-regulation of the endoplasmic reticulum stress-responsive hormones HSPA5 and EIF2AK3 and the proapoptotic transcription factor DDIT3. 3 PublicationsCorresponds to variant dbSNP:rs104894271EnsemblClinVar.1
Natural variantiVAR_01846423S → P in FIH; recessive; might lead to inefficient processing of the precursor. 1 PublicationCorresponds to variant dbSNP:rs104894272EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
V00597 mRNA Translation: CAA23843.1
J00301 Genomic DNA Translation: AAA60215.1
BC096142 mRNA Translation: AAH96142.1
BC096143 mRNA Translation: AAH96143.1
BC096144 mRNA Translation: AAH96144.1
BC096145 mRNA Translation: AAH96145.1
CCDSiCCDS7812.1
PIRiA19339 PTHU
RefSeqiNP_000306.1, NM_000315.3
UniGeneiHs.37045

Genome annotation databases

EnsembliENST00000282091; ENSP00000282091; ENSG00000152266
ENST00000529816; ENSP00000433208; ENSG00000152266
GeneIDi5741
KEGGihsa:5741
UCSCiuc001mlb.4 human

Similar proteinsi

Cross-referencesi

Web resourcesi

Wikipedia

Parathyroid hormone entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
V00597 mRNA Translation: CAA23843.1
J00301 Genomic DNA Translation: AAA60215.1
BC096142 mRNA Translation: AAH96142.1
BC096143 mRNA Translation: AAH96143.1
BC096144 mRNA Translation: AAH96144.1
BC096145 mRNA Translation: AAH96145.1
CCDSiCCDS7812.1
PIRiA19339 PTHU
RefSeqiNP_000306.1, NM_000315.3
UniGeneiHs.37045

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1BWXNMR-A32-70[»]
1ET1X-ray0.90A/B32-65[»]
1ET2model-A32-65[»]
1FVYNMR-A32-62[»]
1HPHNMR-A32-68[»]
1HPYNMR-A32-65[»]
1HTHNMR-A32-65[»]
1ZWANMR-A32-65[»]
1ZWBNMR-A33-68[»]
1ZWDNMR-A34-68[»]
1ZWENMR-A35-68[»]
1ZWFNMR-A35-68[»]
1ZWGNMR-A35-68[»]
2L1XNMR-A32-65[»]
3C4MX-ray1.95C/D46-65[»]
ProteinModelPortaliP01270
SMRiP01270
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111713, 6 interactors
IntActiP01270, 2 interactors
STRINGi9606.ENSP00000282091

Chemistry databases

DrugBankiDB05883 ABX-PTH
DB04419 Norleucine

PTM databases

iPTMnetiP01270
PhosphoSitePlusiP01270

Polymorphism and mutation databases

BioMutaiPTH
DMDMi131547

Proteomic databases

PaxDbiP01270
PRIDEiP01270
ProteomicsDBi51366

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000282091; ENSP00000282091; ENSG00000152266
ENST00000529816; ENSP00000433208; ENSG00000152266
GeneIDi5741
KEGGihsa:5741
UCSCiuc001mlb.4 human

Organism-specific databases

CTDi5741
DisGeNETi5741
EuPathDBiHostDB:ENSG00000152266.6
GeneCardsiPTH
HGNCiHGNC:9606 PTH
HPAiCAB000072
CAB023409
CAB026363
HPA048540
MalaCardsiPTH
MIMi146200 phenotype
168450 gene
neXtProtiNX_P01270
OpenTargetsiENSG00000152266
Orphaneti189466 Familial isolated hypoparathyroidism due to impaired PTH secretion
PharmGKBiPA33951
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J02X Eukaryota
ENOG410ZH2H LUCA
GeneTreeiENSGT00390000018603
HOGENOMiHOG000033707
HOVERGENiHBG008319
InParanoidiP01270
KOiK05261
OMAiEIQFMHN
OrthoDBiEOG091G13ZF
PhylomeDBiP01270
TreeFamiTF336197

Enzyme and pathway databases

ReactomeiR-HSA-373080 Class B/2 (Secretin family receptors)
R-HSA-418555 G alpha (s) signalling events
SIGNORiP01270

Miscellaneous databases

EvolutionaryTraceiP01270
GeneWikiiParathyroid_hormone
GenomeRNAii5741
PMAP-CutDBiP01270
PROiPR:P01270
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000152266 Expressed in 51 organ(s), highest expression level in thyroid gland
CleanExiHS_PTH
GenevisibleiP01270 HS

Family and domain databases

InterProiView protein in InterPro
IPR003625 PTH
IPR001415 PTH/PTH-rel
PANTHERiPTHR10541:SF2 PTHR10541:SF2, 1 hit
PfamiView protein in Pfam
PF01279 Parathyroid, 1 hit
PIRSFiPIRSF001832 PTH, 1 hit
SMARTiView protein in SMART
SM00087 PTH, 1 hit
PROSITEiView protein in PROSITE
PS00335 PARATHYROID, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPTHY_HUMAN
AccessioniPrimary (citable) accession number: P01270
Secondary accession number(s): Q4VB48, Q9UD38
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: August 13, 1987
Last modified: November 7, 2018
This is version 187 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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