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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HAPLN1
hyaluronan and proteoglycan link protein 1
Chromosome 5 · 5q14.3
NCBI Gene: 1404Ensembl: ENSG00000145681.12HGNC: HGNC:2380UniProt: P10915
54PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular matrixgel phase of interstitial matrixskeletal system developmentcentral nervous system developmentsystemic lupus erythematosusBenign Thyroid Gland Neoplasmankylosing spondylitissleep apnea
✦AI Summary

HAPLN1 (hyaluronan and proteoglycan link protein 1) is an extracellular matrix protein that stabilizes aggregates of proteoglycan monomers with hyaluronic acid, maintaining ECM structural integrity 1. The protein functions through multiple receptor-mediated mechanisms: it binds to cell surface chaperonin 60 (CH60) which complexes with TLR4 to activate NF-κB signaling and promote cell survival in multiple myeloma 2, and it increases TGF-β receptor levels leading to enhanced Smad3 phosphorylation and downstream signaling 34. HAPLN1 promotes cellular proliferation and dedifferentiation through versican-mediated GDF11 trapping and TGF-β/SMAD2/3 pathway activation 5. The protein demonstrates significant disease relevance, being upregulated in rheumatoid arthritis where it promotes pro-inflammatory fibroblast phenotypes 1, and in thyroid cancer where higher expression correlates with poor survival outcomes 6. Age-related HAPLN1 decline affects vascular integrity in melanoma by indirectly upregulating endothelial ICAM1 7. Clinically, recombinant HAPLN1 shows therapeutic potential for treating pulmonary emphysema 3, cardiac regeneration 5, and hair loss 4, while HAPLN1 regulation is crucial for trophoblast function and pregnancy maintenance 8.

Sources cited
1
HAPLN1 maintains ECM aggregation and promotes pro-inflammatory phenotypes in rheumatoid arthritis fibroblasts
PMID: 35720292
2
HAPLN1 binds to cell surface CH60-TLR4 complex to activate NF-κB signaling in multiple myeloma
PMID: 36625202
3
HAPLN1 increases TGF-β receptor I levels and enhances Smad3 phosphorylation in alveolar epithelial cells
PMID: 37587649
4
HAPLN1 promotes hair matrix cell proliferation via TGF-β2-induced ERK1/2 pathway
PMID: 37551604
5
HAPLN1 promotes cardiomyocyte proliferation through versican-mediated GDF11 trapping and TGF-β/SMAD2/3 signaling
PMID: 38618242
6
HAPLN1 is upregulated in thyroid cancer with higher expression associated with poor survival
PMID: 40372556
7
Age-related HAPLN1 decline affects vascular integrity by upregulating endothelial ICAM1
PMID: 38472454
8
HAPLN1 regulation is essential for trophoblast function and pregnancy maintenance
PMID: 37827456
Disease Associationsⓘ20
systemic lupus erythematosusOpen Targets
0.30Weak
Benign Thyroid Gland NeoplasmOpen Targets
0.27Weak
ankylosing spondylitisOpen Targets
0.26Weak
sleep apneaOpen Targets
0.23Weak
preeclampsiaOpen Targets
0.22Weak
cardiac transplantOpen Targets
0.20Weak
ovarian dysfunctionOpen Targets
0.14Weak
neoplasmOpen Targets
0.10Weak
Miyoshi myopathyOpen Targets
0.10Weak
poisoningOpen Targets
0.09Suggestive
rheumatoid arthritisOpen Targets
0.09Suggestive
gastric cancerOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
Barrett's esophagusOpen Targets
0.05Suggestive
3M syndromeOpen Targets
0.05Suggestive
hepatocellular carcinomaOpen Targets
0.05Suggestive
juvenile idiopathic arthritisOpen Targets
0.05Suggestive
platyspondylic dysplasia, Torrance typeOpen Targets
0.05Suggestive
odontochondrodysplasia 1Open Targets
0.05Suggestive
otospondylomegaepiphyseal dysplasia, autosomal recessiveOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HAPLN3Shared pathway100%HAPLN2Shared pathway100%NCANShared pathway100%COL9A1Protein interaction84%COL11A1Protein interaction81%BCANShared pathway75%
Tissue Expression6 tissues
Heart
100%
Brain
23%
Lung
3%
Bone Marrow
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
HAPLN1HAPLN3HAPLN2NCANCOL9A1COL11A1BCAN
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P10915
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.64LoF Tolerant
pLIⓘ
0.50Intermediate
Observed/Expected LoF0.39 [0.24–0.64]
RankingsWhere HAPLN1 stands among ~20K protein-coding genes
  • #8,321of 20,598
    Most Researched54
  • #4,576of 17,882
    Most Constrained (LOEUF)0.64
Genes detectedHAPLN1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
FKBP5 regulates trophoblast-macrophage crosstalk in recurrent spontaneous abortion through PI3K/AKT and NF-κB signaling pathways.
PMID: 37827456
Free Radic Biol Med · 2023
1.00
2
Recombinant Human HAPLN1 Mitigates Pulmonary Emphysema by Increasing TGF-β Receptor I and Sirtuins Levels in Human Alveolar Epithelial Cells.
PMID: 37587649
Mol Cells · 2023
0.90
3
Age-dependent loss of HAPLN1 erodes vascular integrity via indirect upregulation of endothelial ICAM1 in melanoma.
PMID: 38472454
Nat Aging · 2024
0.80
4
Ectopic CH60 mediates HAPLN1-induced cell survival signaling in multiple myeloma.
PMID: 36625202
Life Sci Alliance · 2023
0.70
5
HAPLN1 Affects Cell Viability and Promotes the Pro-Inflammatory Phenotype of Fibroblast-Like Synoviocytes.
PMID: 35720292
Front Immunol · 2022
0.60