HAPLN1 (hyaluronan and proteoglycan link protein 1)

2009-06-01  

Identity

HGNC
LOCATION
5q14.3
LOCUSID
ALIAS
CRT1,CRTL1
FUSION GENES

Other Information

Locus ID:

NCBI: 1404
MIM: 115435
HGNC: 2380
Ensembl: ENSG00000145681

Variants:

dbSNP: 1404
ClinVar: 1404
TCGA: ENSG00000145681
COSMIC: HAPLN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000145681ENST00000274341P10915
ENSG00000145681ENST00000274341A0A024RAK9
ENSG00000145681ENST00000503117D6RFI7
ENSG00000145681ENST00000504713D6RBX9
ENSG00000145681ENST00000508307D6RG04
ENSG00000145681ENST00000510978D6RBS1
ENSG00000145681ENST00000514416D6RAK7
ENSG00000145681ENST00000515590D6RC59

Expression (GTEx)

0
1
2
3
4
5
6
7

Pathways

PathwaySourceExternal ID
Extracellular matrix organizationREACTOMER-HSA-1474244
ECM proteoglycansREACTOMER-HSA-3000178

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
221597172012The matrisome: in silico definition and in vivo characterization by proteomics of normal and tumor extracellular matrices.228
205841052010In vitro modeling of perineuronal nets: hyaluronan synthase and link protein are necessary for their formation and integrity.42
154567692004SOX9-dependent and -independent transcriptional regulation of human cartilage link protein.36
155906702005Expression and purification of functionally active hyaluronan-binding domains from human cartilage link protein, aggrecan and versican: formation of ternary complexes with defined hyaluronan oligosaccharides.29
198345352009Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.27
204530002010A Large-scale genetic association study of esophageal adenocarcinoma risk.23
209507962011Candidate gene analysis of the human natural killer-1 carbohydrate pathway and perineuronal nets in schizophrenia: B3GAT2 is associated with disease risk and cortical surface area.15
209536372011Single-nucleotide polymorphism in the hyaluronan and proteoglycan link protein 1 (HAPLN1) gene is associated with spinal osteophyte formation and disc degeneration in Japanese women.14
209536372011Single-nucleotide polymorphism in the hyaluronan and proteoglycan link protein 1 (HAPLN1) gene is associated with spinal osteophyte formation and disc degeneration in Japanese women.14
302791722019Age-Related Changes in HAPLN1 Increase Lymphatic Permeability and Affect Routes of Melanoma Metastasis.14

Citation

Dessen P

HAPLN1 (hyaluronan and proteoglycan link protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2009-06-01

Online version: http://atlasgeneticsoncology.org/gene/50945/hapln1