• Gene id: 145864

Gene Summary

• Gene Symbol: HAPLN3   Gene   UCSC   Ensembl
• Aliases: EXLD1, HsT19883
• Gene name: hyaluronan and proteoglycan link protein 3
• Alternate names: hyaluronan and proteoglycan link protein 3, extracellular link domain containing, 1,
• Gene location: 15q26.1 (88895605: 88877293)     Exons: 7     NC_000015.10
• Gene summary(Entrez): This gene belongs to the hyaluronan and proteoglycan binding link protein gene family. The protein encoded by this gene may function in hyaluronic acid binding and cell adhesion. [provided by RefSeq, Jul 2008]
• OMIM: 601998

Protein Summary

• Protein general information: Q96S86  
  • Name: Hyaluronan and proteoglycan link protein 3
  • Length: 360  
  • Mass: 40894
  • Tissue specificity: Widely expressed with highest levels in spleen and placenta. {ECO
• Sequence:

  MGLLLLVPLLLLPGSYGLPFYNGFYYSNSANDQNLGNGHGKDLLNGVKLVVETPEETLFTYQGASVILPCRYRYE
  PALVSPRRVRVKWWKLSENGAPEKDVLVAIGLRHRSFGDYQGRVHLRQDKEHDVSLEIQDLRLEDYGRYRCEVID
  GLEDESGLVELELRGVVFPYQSPNGRYQFNFHEGQQVCAEQAAVVASFEQLFRAWEEGLDWCNAGWLQDATVQYP
  IMLPRQPCGGPGLAPGVRSYGPRHRRLHRYDVFCFATALKGRVYYLEHPEKLTLTEAREACQEDDATIAKVGQLF
  AAWKFHGLDRCDAGWLADGSVRYPVVHPHPNCGPPEPGVRSFGFPDPQSRLYGVYCYRQH

• Structural information:
  • Protein Domains: (48..16-)
    (/note="Ig-like-V-type)
    (/evidence="ECO:0000305-)
    (166..26-)
    (/note="Link-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00323,-ECO:0000305)
    (266..35-)
    (/note="Link-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00323,-ECO:00)
  • Interpro: IPR016186  IPR016187  IPR007110  IPR036179  IPR013783   IPR003599  IPR013106  IPR000538  
  • Prosite: PS50835 PS01241 PS50963
  • STRING: ENSP00000352606
• Other Databases: GeneCards:  HAPLN3  Malacards:  HAPLN3

Gene ontology

GO accession	Term name	Evidence code	Go category
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
GO:0005615	extracellular space	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
GO:0005615	extracellular space	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq