Seroatlas · Human Serome Atlas

PTHLH

Parathyroid hormone-related protein

Also known as: HHM, PLP, PTHR, PTHR_HUMAN, PTHRP

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

Protein identityUniProt · HPA

UniProt accession
P12272
Gene
PTHLH
Ensembl
ENSG00000087494
Chromosome
12
Canonical length
177 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Predicted secreted proteins
Subcellular location
Nucleoplasm,Golgi apparatus,Cytosol
Secretome location
Secreted in other tissues

OverviewNCBI Gene

The protein encoded by this gene is a member of the parathyroid hormone family. This hormone, via its receptor, PTHR1, regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth. It is responsible for most cases of humoral hypercalcemia of malignancy, and mutations in this gene are associated with brachydactyly type E2 (BDE2). Alternatively spliced transcript variants have been found for this gene. There is also evidence for alternative translation initiation from non-AUG (CUG and GUG) start sites, downstream of the initiator AUG codon, resulting in nuclear forms of this hormone. [provided by RefSeq, Nov 2013]

Canonical amino-acid sequenceUniProt

177 residues, UniProt reviewed canonical sequence.

>P12272|PTHLH
     1  MQRRLVQQWS VAVFLLSYAV PSCGRSVEGL SRRLKRAVSE HQLLHDKGKS IQDLRRRFFL
    61  HHLIAEIHTA EIRATSEVSP NSKPSPNTKN HPVRFGSDDE GRYLTQETNK VETYKEQPLK
   121  TPGKKKKGKP GKRKEQEKKK RRTRSAWLDS GVTGSGLEGD HLSDTSTTSL ELDSRRH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PTHLH 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
Secreted
Secreted
Yes
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.65
Highest tissue expression
21 nTPM

Expression across tissuesHPA

Tissue

  • parathyroid gland: 21 nTPM
  • breast: 19 nTPM
  • vagina: 16 nTPM
  • esophagus: 15 nTPM
  • choroid plexus: 14 nTPM
  • cervix: 12 nTPM

Single-cell type

  • breast lactating cells: 423 nCPM
  • breast hormone-responsive cells: 155 nCPM
  • esophageal basal cells: 33 nCPM
  • salivary basal cells: 31 nCPM
  • breast secretory cells: 22 nCPM
  • breast myoepithelial cells: 20 nCPM

Immune cell

  • T-reg: 0.6 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM

Brain region

  • choroid plexus: 26 nTPM
  • thalamus: 21 nTPM
  • midbrain: 20 nTPM
  • cerebral cortex: 12 nTPM
  • medulla oblongata: 12 nTPM
  • hypothalamus: 9.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PTHLH.

Disease | AllUniProt

Conditions PTHLH is implicated in, by any mechanism.

Disease | GeneticClinVar

21 pathogenic / likely-pathogenic of 127 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | ImmuneIEDB

Conditions an epitope on PTHLH was assayed in.

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)
0.48
gnomAD pLI
0.81
gnomAD missense Z
1.15
DepMap mean gene effect
0.03
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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 PTHLH 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 PTHLH as an antibody target. Whether an autoantibody or antibody against PTHLH could matter depends on whether native PTHLH is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PTHLH is annotated as secreted, so native PTHLH circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Source-annotated serology context

The source annotations explicitly mention antibody, autoantibody, autoantigen, or autoimmune context. This is biological context, not study-specific reactivity.

  • It is responsible for most cases of humoral hypercalcemia of malignancy, and mutations in this gene are associated with brachydactyly type E2 (BDE2).

Canonical record: https://seroatlas.com/gene/PTHLH. 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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