HAPLN1

Gene Information
 
Gene Symbol
HAPLN1
 
Aliases
CRT1, CRTL1
 
Entrez Gene ID
 
Gene Name
Hyaluronan and proteoglycan link protein 1
 
Chromosomal Location
5q14.3
 
HGNC ID
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0001501 Biological process Skeletal system development IBA 21873635
GO:0007417 Biological process Central nervous system development IBA 21873635
GO:0031012 Cellular component Extracellular matrix IBA 21873635
GO:0062023 Cellular component Collagen-containing extracellular matrix HDA 23979707, 27068509, 28327460
GO:0062023 Cellular component Collagen-containing extracellular matrix HDA 20551380
Protein Information
 
Protein Name
Hyaluronan and proteoglycan link protein 1, Cartilage link protein, cartilage-link protein, cartilage-linking protein 1, proteoglycan link protein
 
Function
Stabilizes the aggregates of proteoglycan monomers with hyaluronic acid in the extracellular cartilage matrix
 
UniProt
 
Pfam
Pfam Accession Pfam ID
PF07686 V-set
PF00193 Xlink
Pathways
 
Reactome
 

 

ECM proteoglycans

Interactions
 
STRING MINT IntAct
ENSP00000299767 P14625 P14625
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Limb Deformities
Endocrine System Diseases
Dwarfism
PCOS
Immune System Diseases
Rheumatoid Arthritis
Neoplasms
Colorectal Cancer
References
 

Gene expression microarray profiles of cumulus cells in lean and overweight-obese polycystic ovary syndrome patients.

Kenigsberg Shlomit, Bentov Yaakov, Chalifa-Caspi Vered, Potashnik Gad, Ofir Rivka, Birk Ohad S
The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Ben-Gurion University, Beer-Sheva, Israel.
Mol Hum Reprod. 2009 Feb;15(2):89-103. doi: 10.1093/molehr/gan082. Epub 2009 Jan

| © 2019, Biomedical Informatics Centre, NIRRH |
National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400 012
Tel: 91-22-24192104, Fax No: 91-22-24139412