• Gene id: 1404

Gene Summary

• Gene Symbol: HAPLN1   Gene   UCSC   Ensembl
• Aliases: CRT1, CRTL1
• Gene name: hyaluronan and proteoglycan link protein 1
• Alternate names: hyaluronan and proteoglycan link protein 1, Cartilage link protein, cartilage-link protein, cartilage-linking protein 1, proteoglycan link protein,
• Gene location: 5q14.3 (83721209: 83637804)     Exons: 14     NC_000005.10
• OMIM: 115435

Protein Summary

• Protein general information: P10915  
  • Name: Hyaluronan and proteoglycan link protein 1 (Cartilage linking protein 1) (Cartilage link protein) (Proteoglycan link protein)
  • Length: 354  
  • Mass: 40166
  • Tissue specificity: Widely expressed. Weakly expressed in the brain. {ECO
• Sequence:

  MKSLLLLVLISICWADHLSDNYTLDHDRAIHIQAENGPHLLVEAEQAKVFSHRGGNVTLPCKFYRDPTAFGSGIH
  KIRIKWTKLTSDYLKEVDVFVSMGYHKKTYGGYQGRVFLKGGSDSDASLVITDLTLEDYGRYKCEVIEGLEDDTV
  VVALDLQGVVFPYFPRLGRYNLNFHEAQQACLDQDAVIASFDQLYDAWRGGLDWCNAGWLSDGSVQYPITKPREP
  CGGQNTVPGVRNYGFWDKDKSRYDVFCFTSNFNGRFYYLIHPTKLTYDEAVQACLNDGAQIAKVGQIFAAWKILG
  YDRCDAGWLADGSVRYPISRPRRRCSPTEAAVRFVGFPDKKHKLYGVYCFRAYN

• Structural information:
  • Protein Domains: (38..15-)
    (/note="Ig-like-V-type)
    (159..25-)
    (/note="Link-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00323-)
    (259..35-)
    (/note="Link-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00323"-)
  • Interpro: IPR016186  IPR016187  IPR007110  IPR036179  IPR013783   IPR003599  IPR013106  IPR000538  
  • Prosite: PS50835 PS01241 PS50963
  • STRING: ENSP00000274341
• Other Databases: GeneCards:  HAPLN1  Malacards:  HAPLN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031012	extracellular matrix	TAS	cellular component
GO:0030198	extracellular matrix organization	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0031012	extracellular matrix	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0030021	extracellular matrix structural constituent conferring compression resistance	RCA	molecular function
GO:0030021	extracellular matrix structural constituent conferring compression resistance	RCA	molecular function
GO:0030021	extracellular matrix structural constituent conferring compression resistance	RCA	molecular function
GO:0030021	extracellular matrix structural constituent conferring compression resistance	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	colocalizes with
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0031012	extracellular matrix	IBA	cellular component
GO:0007417	central nervous system development	IBA	biological process
GO:0001501	skeletal system development	IBA	biological process
GO:0005540	hyaluronic acid binding	IEA	molecular function
GO:0007155	cell adhesion	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005540	hyaluronic acid binding	IEA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881