• Gene id: 3699

Gene Summary

• Gene Symbol: ITIH3   Gene   UCSC   Ensembl
• Aliases: H3P, ITI-HC3, SHAP
• Gene name: inter-alpha-trypsin inhibitor heavy chain 3
• Alternate names: inter-alpha-trypsin inhibitor heavy chain H3, ITI heavy chain H3, inter-alpha (globulin) inhibitor H3, inter-alpha (globulin) inhibitor, H3 polypeptide, inter-alpha-inhibitor heavy chain 3, pre-alpha (globulin) inhibitor, H3 polypeptide, serum-derived hyalurona,
• Gene location: 3p21.1 (52794767: 52809008)     Exons: 24     NC_000003.12
• Gene summary(Entrez): This gene encodes the heavy chain subunit of the pre-alpha-trypsin inhibitor complex. This complex may stabilize the extracellular matrix through its ability to bind hyaluronic acid. Polymorphisms of this gene may be associated with increased risk for sch
• OMIM: 605576

Protein Summary

• Protein general information: Q06033  
  • Name: Inter alpha trypsin inhibitor heavy chain H3 (ITI heavy chain H3) (ITI HC3) (Inter alpha inhibitor heavy chain 3) (Serum derived hyaluronan associated protein) (SHAP)
  • Length: 890  
  • Mass: 99849
• Sequence:

  MAFAWWPCLILALLSSLAASGFPRSPFRLLGKRSLPEGVANGIEVYSTKINSKVTSRFAHNVVTMRAVNRADTAK
  EVSFDVELPKTAFITNFTLTIDGVTYPGNVKEKEVAKKQYEKAVSQGKTAGLVKASGRKLEKFTVSVNVAAGSKV
  TFELTYEELLKRHKGKYEMYLKVQPKQLVKHFEIEVDIFEPQGISMLDAEASFITNDLLGSALTKSFSGKKGHVS
  FKPSLDQQRSCPTCTDSLLNGDFTITYDVNRESPGNVQIVNGYFVHFFAPQGLPVVPKNVAFVIDISGSMAGRKL
  EQTKEALLRILEDMQEEDYLNFILFSGDVSTWKEHLVQATPENLQEARTFVKSMEDKGMTNINDGLLRGISMLNK
  AREEHRIPERSTSIVIMLTDGDANVGESRPEKIQENVRNAIGGKFPLYNLGFGNNLNYNFLENMALENHGFARRI
  YEDSDADLQLQGFYEEVANPLLTGVEMEYPENAILDLTQNTYQHFYDGSEIVVAGRLVDEDMNSFKADVKGHGAT
  NDLTFTEEVDMKEMEKALQERDYIFGNYIERLWAYLTIEQLLEKRKNAHGEEKENLTARALDLSLKYHFVTPLTS
  MVVTKPEDNEDERAIADKPGEDAEATPVSPAMSYLTSYQPPQNPYYYVDGDPHFIIQIPEKDDALCFNIDEAPGT
  VLRLIQDAVTGLTVNGQITGDKRGSPDSKTRKTYFGKLGIANAQMDFQVEVTTEKITLWNRAVPSTFSWLDTVTV
  TQDGLSMMINRKNMVVSFGDGVTFVVVLHQVWKKHPVHRDFLGFYVVDSHRMSAQTHGLLGQFFQPFDFKVSDIR
  PGSDPTKPDATLVVKNHQLIVTRGSQKDYRKDASIGTKVVCWFVHNNGEGLIDGVHTDYIVPNLF

• Structural information:
  • Protein Domains: (29..15-)
    (/note="VIT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00801-)
    (284..46-)
    (/note="VWFA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00219"-)
  • Interpro: IPR010600  IPR013694  IPR002035  IPR036465  
  • Prosite: PS51468 PS50234
  • STRING: ENSP00000415769
• Other Databases: GeneCards:  ITIH3  Malacards:  ITIH3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030212	hyaluronan metabolic process	IEA	biological process
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0010466	negative regulation of peptidase activity	IEA	biological process
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0004866	endopeptidase inhibitor activity	TAS	molecular function
GO:0002576	platelet degranulation	TAS	biological process
GO:0031089	platelet dense granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0005576	extracellular region	NAS	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray