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Protein

Parathyroid hormone-related protein

Gene

PTHLH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Neuroendocrine peptide which is a critical regulator of cellular and organ growth, development, migration, differentiation and survival and of epithelial calcium ion transport. Regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth. Required for skeletal homeostasis. Promotes mammary mesenchyme differentiation and bud outgrowth by modulating mesenchymal cell responsiveness to BMPs. Upregulates BMPR1A expression in the mammary mesenchyme and this increases the sensitivity of these cells to BMPs and allows them to respond to BMP4 in a paracrine and/or autocrine fashion. BMP4 signaling in the mesenchyme, in turn, triggers epithelial outgrowth and augments MSX2 expression, which causes the mammary mesenchyme to inhibit hair follicle formation within the nipple sheath (By similarity). Promotes colon cancer cell migration and invasion in an integrin alpha-6/beta-1-dependent manner through activation of Rac1.By similarity1 Publication
Osteostatin is a potent inhibitor of osteoclastic bone resorption.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • hormone activity Source: GO_Central
  • peptide hormone receptor binding Source: UniProtKB

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHormone
LigandCalcium

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-373080 Class B/2 (Secretin family receptors)
R-HSA-418555 G alpha (s) signalling events

SIGNOR Signaling Network Open Resource

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SIGNORi
P12272

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Parathyroid hormone-related protein
Short name:
PTH-rP
Short name:
PTHrP
Alternative name(s):
Parathyroid hormone-like protein
Short name:
PLP
Cleaved into the following 3 chains:
Alternative name(s):
PTHrP[107-139]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PTHLH
Synonyms:PTHRP
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000087494.15

Human Gene Nomenclature Database

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HGNCi
HGNC:9607 PTHLH

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
168470 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P12272

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

Cytoplasm, Nucleus, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Brachydactyly E2 (BDE2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type E is characterized by shortening of the fingers mainly in the metacarpals and metatarsals. Wide variability in the number of digits affected occurs from person to person, even in the same family. Some individuals are moderately short of stature. In brachydactyly type E2 variable combinations of metacarpals are involved, with shortening also of the first and third distal and the second and fifth middle phalanges.
See also OMIM:613382
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06371144L → P in BDE2. 1 PublicationCorresponds to variant dbSNP:rs267606986EnsemblClinVar.1
Natural variantiVAR_06371260L → P in BDE2. 1 PublicationCorresponds to variant dbSNP:rs267606985EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi57R → A: Strongly reduced affinity for PTH1R. 1 Publication1
Mutagenesisi59F → A: Reduced affinity for PTH1R. 1 Publication1
Mutagenesisi60L → A or K: Strongly reduced affinity for PTH1R. 1 Publication1
Mutagenesisi63L → A: Reduced affinity for PTH1R. 1 Publication1
Mutagenesisi64I → A: Reduced affinity for PTH1R. 1 Publication1
Mutagenesisi68H → A: Reduced affinity for PTH1R. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
5744

MalaCards human disease database

More...
MalaCardsi
PTHLH
MIMi613382 phenotype

Open Targets

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OpenTargetsi
ENSG00000087494

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
93387 Brachydactyly type E

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA33952

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3712869

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PTHLH

Domain mapping of disease mutations (DMDM)

More...
DMDMi
131542

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 24Sequence analysisAdd BLAST24
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_000002322425 – 3410
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000002322537 – 177Parathyroid hormone-related proteinAdd BLAST141
<p>This subsection of the ‘PTM / Processing’ section describes the position and length of an active peptide in the mature protein.<p><a href='/help/peptide' target='_top'>More...</a></p>PeptideiPRO_000002322637 – 72PTHrP[1-36]Add BLAST36
PeptideiPRO_000002322774 – 130PTHrP[38-94]Add BLAST57
PeptideiPRO_0000023228143 – 175OsteostatinAdd BLAST33

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

There are 3 principal secretory forms, called PTHrP[1-36], PTHrP[38-94], and osteostatin (PTHrP[107-139]) arising from endoproteolytic cleavage of the initial translation product. Each of these secretory forms is believed to have one or more of its own receptors that mediates the normal paracrine, autocrine and endocrine actions.

Keywords - PTMi

Cleavage on pair of basic residues

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P12272

PeptideAtlas

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PeptideAtlasi
P12272

PRoteomics IDEntifications database

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PRIDEi
P12272

ProteomicsDB human proteome resource

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ProteomicsDBi
52842
52843 [P12272-2]
52844 [P12272-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P12272

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P12272

Miscellaneous databases

CutDB - Proteolytic event database

More...
PMAP-CutDBi
P12272

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous. Also expressed in the mammary gland.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000087494 Expressed in 149 organ(s), highest expression level in epithelium of bronchus

CleanEx database of gene expression profiles

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CleanExi
HS_PTHLH

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P12272 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P12272 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA035982

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
111716, 5 interactors

Protein interaction database and analysis system

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IntActi
P12272, 1 interactor

STRING: functional protein association networks

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STRINGi
9606.ENSP00000379213

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1177
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1BZGNMR-A37-70[»]
1ET3model-A37-70[»]
1M5NX-ray2.90Q103-130[»]
3FFDX-ray2.00P37-144[»]
3H3GX-ray1.94B48-70[»]

Database of protein disorder

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DisProti
DP00138

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P12272

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P12272

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
P12272

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni57 – 68Important for receptor bindingAdd BLAST12

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi108 – 129Nuclear localization signal1 PublicationAdd BLAST22

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the parathyroid hormone family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IW2I Eukaryota
ENOG41126XH LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000004933

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000115765

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG003236

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P12272

KEGG Orthology (KO)

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KOi
K22608

Identification of Orthologs from Complete Genome Data

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OMAi
SYSVPSC

Database of Orthologous Groups

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OrthoDBi
1359745at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P12272

TreeFam database of animal gene trees

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TreeFami
TF332953

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR003626 PTH-rel
IPR001415 PTH/PTH-rel

The PANTHER Classification System

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PANTHERi
PTHR17223 PTHR17223, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF01279 Parathyroid, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00087 PTH, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00335 PARATHYROID, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P12272-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MQRRLVQQWS VAVFLLSYAV PSCGRSVEGL SRRLKRAVSE HQLLHDKGKS
60 70 80 90 100
IQDLRRRFFL HHLIAEIHTA EIRATSEVSP NSKPSPNTKN HPVRFGSDDE
110 120 130 140 150
GRYLTQETNK VETYKEQPLK TPGKKKKGKP GKRKEQEKKK RRTRSAWLDS
160 170
GVTGSGLEGD HLSDTSTTSL ELDSRRH
Length:177
Mass (Da):20,194
Last modified:October 1, 1989 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i449FDFEE954C51DB
GO
Isoform 2 (identifier: P12272-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     176-177: Missing.

Show »
Length:175
Mass (Da):19,901
Checksum:i4FEE954C51DB3E7D
GO
Isoform 3 (identifier: P12272-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     176-177: RH → TALLWGLKKKKENNRRTHHMQLMISLFKSPLLLL

Show »
Length:209
Mass (Da):23,942
Checksum:iA994463A90B8EA0F
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5GZD9F5GZD9_HUMAN
Parathyroid hormone-related protein
PTHLH
172Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H485F5H485_HUMAN
Parathyroid hormone-related protein
PTHLH
111Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06371144L → P in BDE2. 1 PublicationCorresponds to variant dbSNP:rs267606986EnsemblClinVar.1
Natural variantiVAR_06371260L → P in BDE2. 1 PublicationCorresponds to variant dbSNP:rs267606985EnsemblClinVar.1
Natural variantiVAR_036433169S → T in a breast cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_004534176 – 177Missing in isoform 2. 2 Publications2
Alternative sequenceiVSP_004535176 – 177RH → TALLWGLKKKKENNRRTHHM QLMISLFKSPLLLL in isoform 3. Curated2

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
M17183 Genomic DNA Translation: AAA60221.1
X14304 Genomic DNA Translation: CAA32480.1
J03580 mRNA Translation: AAA60216.1 Sequence problems.
M24349, M24348 Genomic DNA Translation: AAA60358.1
M24350, M24348, M24349 Genomic DNA Translation: AAA60359.1
M24351, M24348, M24349 Genomic DNA Translation: AAA60360.1
CR541882 mRNA Translation: CAG46680.1
CH471094 Genomic DNA Translation: EAW96573.1
BC005961 mRNA Translation: AAH05961.1
J03802 mRNA Translation: AAA60218.1
M34071 mRNA Translation: AAA60217.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS44853.1 [P12272-1]
CCDS8715.1 [P12272-2]

Protein sequence database of the Protein Information Resource

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PIRi
A33360 PTHU2L
C33360 PTHU3L

NCBI Reference Sequences

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RefSeqi
NP_002811.1, NM_002820.2 [P12272-2]
NP_945315.1, NM_198964.1 [P12272-2]
NP_945316.1, NM_198965.1 [P12272-1]
NP_945317.1, NM_198966.1 [P12272-1]
XP_011519076.1, XM_011520774.2 [P12272-1]
XP_011519077.1, XM_011520775.2 [P12272-1]
XP_016875163.1, XM_017019674.1
XP_016875164.1, XM_017019675.1 [P12272-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.591159

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000201015; ENSP00000201015; ENSG00000087494 [P12272-2]
ENST00000395868; ENSP00000379209; ENSG00000087494 [P12272-2]
ENST00000395872; ENSP00000379213; ENSG00000087494 [P12272-1]
ENST00000535992; ENSP00000440613; ENSG00000087494 [P12272-2]
ENST00000538310; ENSP00000441890; ENSG00000087494 [P12272-3]
ENST00000539239; ENSP00000441571; ENSG00000087494 [P12272-1]
ENST00000545234; ENSP00000441765; ENSG00000087494 [P12272-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
5744

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:5744

UCSC genome browser

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UCSCi
uc001ril.4 human [P12272-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M17183 Genomic DNA Translation: AAA60221.1
X14304 Genomic DNA Translation: CAA32480.1
J03580 mRNA Translation: AAA60216.1 Sequence problems.
M24349, M24348 Genomic DNA Translation: AAA60358.1
M24350, M24348, M24349 Genomic DNA Translation: AAA60359.1
M24351, M24348, M24349 Genomic DNA Translation: AAA60360.1
CR541882 mRNA Translation: CAG46680.1
CH471094 Genomic DNA Translation: EAW96573.1
BC005961 mRNA Translation: AAH05961.1
J03802 mRNA Translation: AAA60218.1
M34071 mRNA Translation: AAA60217.1
CCDSiCCDS44853.1 [P12272-1]
CCDS8715.1 [P12272-2]
PIRiA33360 PTHU2L
C33360 PTHU3L
RefSeqiNP_002811.1, NM_002820.2 [P12272-2]
NP_945315.1, NM_198964.1 [P12272-2]
NP_945316.1, NM_198965.1 [P12272-1]
NP_945317.1, NM_198966.1 [P12272-1]
XP_011519076.1, XM_011520774.2 [P12272-1]
XP_011519077.1, XM_011520775.2 [P12272-1]
XP_016875163.1, XM_017019674.1
XP_016875164.1, XM_017019675.1 [P12272-1]
UniGeneiHs.591159

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1BZGNMR-A37-70[»]
1ET3model-A37-70[»]
1M5NX-ray2.90Q103-130[»]
3FFDX-ray2.00P37-144[»]
3H3GX-ray1.94B48-70[»]
DisProtiDP00138
ProteinModelPortaliP12272
SMRiP12272
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111716, 5 interactors
IntActiP12272, 1 interactor
STRINGi9606.ENSP00000379213

Chemistry databases

ChEMBLiCHEMBL3712869

PTM databases

iPTMnetiP12272
PhosphoSitePlusiP12272

Polymorphism and mutation databases

BioMutaiPTHLH
DMDMi131542

Proteomic databases

PaxDbiP12272
PeptideAtlasiP12272
PRIDEiP12272
ProteomicsDBi52842
52843 [P12272-2]
52844 [P12272-3]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
5744
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000201015; ENSP00000201015; ENSG00000087494 [P12272-2]
ENST00000395868; ENSP00000379209; ENSG00000087494 [P12272-2]
ENST00000395872; ENSP00000379213; ENSG00000087494 [P12272-1]
ENST00000535992; ENSP00000440613; ENSG00000087494 [P12272-2]
ENST00000538310; ENSP00000441890; ENSG00000087494 [P12272-3]
ENST00000539239; ENSP00000441571; ENSG00000087494 [P12272-1]
ENST00000545234; ENSP00000441765; ENSG00000087494 [P12272-1]
GeneIDi5744
KEGGihsa:5744
UCSCiuc001ril.4 human [P12272-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
5744
DisGeNETi5744
EuPathDBiHostDB:ENSG00000087494.15

GeneCards: human genes, protein and diseases

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GeneCardsi
PTHLH
HGNCiHGNC:9607 PTHLH
HPAiHPA035982
MalaCardsiPTHLH
MIMi168470 gene
613382 phenotype
neXtProtiNX_P12272
OpenTargetsiENSG00000087494
Orphaneti93387 Brachydactyly type E
PharmGKBiPA33952

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IW2I Eukaryota
ENOG41126XH LUCA
GeneTreeiENSGT00390000004933
HOGENOMiHOG000115765
HOVERGENiHBG003236
InParanoidiP12272
KOiK22608
OMAiSYSVPSC
OrthoDBi1359745at2759
PhylomeDBiP12272
TreeFamiTF332953

Enzyme and pathway databases

ReactomeiR-HSA-373080 Class B/2 (Secretin family receptors)
R-HSA-418555 G alpha (s) signalling events
SIGNORiP12272

Miscellaneous databases

EvolutionaryTraceiP12272

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Parathyroid_hormone-related_protein

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
5744
PMAP-CutDBiP12272

Protein Ontology

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PROi
PR:P12272

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000087494 Expressed in 149 organ(s), highest expression level in epithelium of bronchus
CleanExiHS_PTHLH
ExpressionAtlasiP12272 baseline and differential
GenevisibleiP12272 HS

Family and domain databases

InterProiView protein in InterPro
IPR003626 PTH-rel
IPR001415 PTH/PTH-rel
PANTHERiPTHR17223 PTHR17223, 1 hit
PfamiView protein in Pfam
PF01279 Parathyroid, 1 hit
SMARTiView protein in SMART
SM00087 PTH, 1 hit
PROSITEiView protein in PROSITE
PS00335 PARATHYROID, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPTHR_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P12272
Secondary accession number(s): Q15251, Q6FH74
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1989
Last sequence update: October 1, 1989
Last modified: January 16, 2019
This is version 201 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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