ITIH3 (inter-alpha-trypsin inhibitor heavy chain 3)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3699
Gene name Gene Name - the full gene name approved by the HGNC.
Inter-alpha-trypsin inhibitor heavy chain 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ITIH3
Synonyms (NCBI Gene) Gene synonyms aliases
H3P, ITI-HC3, SHAP
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p21.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(10)
GO ID Ontology Definition Evidence Reference
GO:0004866 Function Endopeptidase inhibitor activity TAS 2465147
GO:0004867 Function Serine-type endopeptidase inhibitor activity IEA
GO:0005515 Function Protein binding IPI 16873769
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region NAS 14718574
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
146650 6168 ENSG00000162267
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q06033
Protein 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)
Protein function May act as a carrier of hyaluronan in serum or as a binding protein between hyaluronan and other matrix protein, including those on cell surfaces in tissues to regulate the localization, synthesis and degradation of hyaluronan which are essentia
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08487 VIT 45 → 156 Vault protein inter-alpha-trypsin domain Family
PF00092 VWA 284 → 466 von Willebrand factor type A domain Domain
PF06668 ITI_HC_C 684 → 871 Inter-alpha-trypsin inhibitor heavy chain C-terminus Family
Sequence 
MAFAWWPCLILALLSSLAASGFPRSPFRLLGKRSLPEGVANGIEVYSTKINSKVTSRFAH
NVVTMRAVNRADTAKEVSFDVELPKTAFITNFTLTIDGVTYPGNVKEKEVAKKQYEKAVS
QGKTAGLVKASGRKLEKFTVSVNVAAGSKVTFELTYEELLKRHKGKYEMYLKVQPKQLVK
HFEIEVDIFEPQGISMLDAEASFITNDLLGSALTKSFSGKKGHVSFKPSLDQQRSCPTCT
DSLLNGDFTITYDVNRESPGNVQIVNGYFVHFFAPQGLPVVPKNVAFVIDISGSMAGRKL
EQTKEALLRILEDMQEEDYLNFILFSGDVSTWKEHLVQATPENLQEARTFVKSMEDKGMT
NINDGLLRGISMLNKAREEHRIPERSTSIVIMLTDGDANVGESRPEKIQENVRNAIGGKF
PLYNLGFGNNLNYNFLENMALENHGFARRIYEDSDADLQLQGFYEEVANPLLTGVEMEYP
ENAILDLTQNTYQHFYDGSEIVVAGRLVDEDMNSFKADVKGHGATNDLTFTEEVDMKEME
KALQERDYIFGNYIERLWAYLTIEQLLEKRKNAHGEEKENLTARALDLSLKYHFVTPLTS
MVVTKPEDNEDERAIADKPGEDAEATPVSPAMSYLTSYQPPQNPYYYVDGDPHFIIQIPE
KDDALCFNIDEAPGTVLRLIQDAVTGLTVNGQITGDKRGSPDSKTRKTYFGKLGIANAQM
DFQVEVTTEKITLWNRAVPSTFSWLDTVTVTQDGLSMMINRKNMVVSFGDGVTFVVVLHQ
VWKKHPVHRDFLGFYVVDSHRMSAQTHGLLGQFFQPFDFKVSDIRPGSDPTKPDATLVVK
NHQLIVTRGSQKDYRKDASIGTKVVCWFVHNNGEGLIDGVHTDYIVPNLF
Sequence length 890
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Platelet degranulation
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Bipolar Disorder Bipolar disorder N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS
Show/Hide Text Mining Associations (20)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Autism Spectrum Disorder Associate 32251353
Bipolar Disorder Associate 21926972, 24461634
Carcinogenesis Associate 31481982
Colorectal Neoplasms Associate 31481982
Gastroschisis Associate 31075877
Heart Failure Associate 38225249
Heart Failure Diastolic Associate 36291628
Hypertension Pregnancy Induced Associate 35455936
Inflammation Associate 31481982, 35455936, 36351970, 38225249
Mental Disorders Associate 24461634