• Gene id: 3700

Gene Summary

• Gene Symbol: ITIH4   Gene   UCSC   Ensembl
• Aliases: GP120, H4P, IHRP, ITI-HC4, ITIHL1, PK-120, PK120
• Gene name: inter-alpha-trypsin inhibitor heavy chain 4
• Alternate names: inter-alpha-trypsin inhibitor heavy chain H4, ITI heavy chain H4, inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein), inter-alpha-inhibitor heavy chain 4, inter-alpha-trypsin inhibitor family heavy chain-related protein, inter-alpha,
• Gene location: 3p21.1 (52830700: 52812961)     Exons: 24     NC_000003.12
• Gene summary(Entrez): The protein encoded by this gene is secreted into the blood, where it is cleaved by plasma kallikrein into two smaller forms. Expression of this gene has been detected only in liver, and it seems to be upregulated during surgical trauma. This gene is part
• OMIM: 614829

Protein Summary

• Protein general information: Q14624  
  • Name: Inter alpha trypsin inhibitor heavy chain H4 (ITI heavy chain H4) (ITI HC4) (Inter alpha inhibitor heavy chain 4) (Inter alpha trypsin inhibitor family heavy chain related protein) (IHRP) (Plasma kallikrein sensitive glycoprotein 120) (Gp120) (PK 120) [Cl
  • Length: 930  
  • Mass: 103357
  • Tissue specificity: Liver specific. {ECO
• Sequence:

  MKPPRPVRTCSKVLVLLSLLAIHQTTTAEKNGIDIYSLTVDSRVSSRFAHTVVTSRVVNRANTVQEATFQMELPK
  KAFITNFSMIIDGMTYPGIIKEKAEAQAQYSAAVAKGKSAGLVKATGRNMEQFQVSVSVAPNAKITFELVYEELL
  KRRLGVYELLLKVRPQQLVKHLQMDIHIFEPQGISFLETESTFMTNQLVDALTTWQNKTKAHIRFKPTLSQQQKS
  PEQQETVLDGNLIIRYDVDRAISGGSIQIENGYFVHYFAPEGLTTMPKNVVFVIDKSGSMSGRKIQQTREALIKI
  LDDLSPRDQFNLIVFSTEATQWRPSLVPASAENVNKARSFAAGIQALGGTNINDAMLMAVQLLDSSNQEERLPEG
  SVSLIILLTDGDPTVGETNPRSIQNNVREAVSGRYSLFCLGFGFDVSYAFLEKLALDNGGLARRIHEDSDSALQL
  QDFYQEVANPLLTAVTFEYPSNAVEEVTQNNFRLLFKGSEMVVAGKLQDRGPDVLTATVSGKLPTQNITFQTESS
  VAEQEAEFQSPKYIFHNFMERLWAYLTIQQLLEQTVSASDADQQALRNQALNLSLAYSFVTPLTSMVVTKPDDQE
  QSQVAEKPMEGESRNRNVHSGSTFFKYYLQGAKIPKPEASFSPRRGWNRQAGAAGSRMNFRPGVLSSRQLGLPGP
  PDVPDHAAYHPFRRLAILPASAPPATSNPDPAVSRVMNMKIEETTMTTQTPAPIQAPSAILPLPGQSVERLCVDP
  RHRQGPVNLLSDPEQGVEVTGQYEREKAGFSWIEVTFKNPLVWVHASPEHVVVTRNRRSSAYKWKETLFSVMPGL
  KMTMDKTGLLLLSDPDKVTIGLLFWDGRGEGLRLLLRDTDRFSSHVGGTLGQFYQEVLWGSPAASDDGRRTLRVQ
  GNDHSATRERRLDYQEGPPGVEISCWSVEL

• Structural information:
  • Protein Domains: (29..14-)
    (/note="VIT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00801-)
    (272..43-)
    (/note="VWFA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00219"-)
  • Interpro: IPR010600  IPR013694  IPR002035  IPR036465  
  • Prosite: PS51468 PS50234
  • STRING: ENSP00000266041
• Other Databases: GeneCards:  ITIH4  Malacards:  ITIH4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005576	extracellular region	IEA	cellular component
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0010466	negative regulation of peptidase activity	IEA	biological process
GO:0006953	acute-phase response	IEA	biological process
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:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	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:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0072562	blood microparticle	HDA	cellular component
GO:0005576	extracellular region	NAS	cellular component
GO:0034097	response to cytokine	IEP	biological process
GO:0006953	acute-phase response	IEP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0030212	hyaluronan metabolic process	IEA	biological process
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function

Diseases

Associated diseases	References
Myocardial infarction	PMID:10486281
intermediate coronary syndrome	PMID:10486281
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

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
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray