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ITIH3 inter-alpha-trypsin inhibitor heavy chain 3 [ Homo sapiens (human) ]

Gene ID: 3699, updated on 3-Oct-2018

Summary

Official Symbol
ITIH3provided by HGNC
Official Full Name
inter-alpha-trypsin inhibitor heavy chain 3provided by HGNC
Primary source
HGNC:HGNC:6168
See related
Ensembl:ENSG00000162267 MIM:146650; Vega:OTTHUMG00000158956
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
H3P; SHAP; ITI-HC3
Summary
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 schizophrenia and major depressive disorder. This gene is present in an inter-alpha-trypsin inhibitor family gene cluster on chromosome 3. [provided by RefSeq, Jul 2015]
Expression
Restricted expression toward liver (RPKM 228.8) See more
Orthologs

Genomic context

See ITIH3 in Genome Data Viewer
Location:
3p21.1
Exon count:
24
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (52794768..52809009)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (52828784..52843025)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene NIMA related kinase 4 Neighboring gene AKT-interacting protein-like Neighboring gene inter-alpha-trypsin inhibitor heavy chain 1 Neighboring gene TMEM110-MUSTN1 readthrough Neighboring gene inter-alpha-trypsin inhibitor heavy chain family member 4 Neighboring gene ITIH4 antisense RNA 1 Neighboring gene musculoskeletal, embryonic nuclear protein 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
NHGRI GWA Catalog
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
NHGRI GWA Catalog
Genome-wide association study identifies five new schizophrenia loci.
NHGRI GWA Catalog
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
NHGRI GWA Catalog
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
NHGRI GWA Catalog

Pathways from BioSystems

  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
    Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
  • Platelet degranulation, organism-specific biosystem (from REACTOME)
    Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
  • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
    Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
endopeptidase inhibitor activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
serine-type endopeptidase inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
hyaluronan metabolic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
platelet degranulation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
platelet dense granule lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
inter-alpha-trypsin inhibitor heavy chain H3
Names
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 hyaluronan-associated protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_002217.3NP_002208.3  inter-alpha-trypsin inhibitor heavy chain H3 preproprotein

    See identical proteins and their annotated locations for NP_002208.3

    Status: REVIEWED

    Source sequence(s)
    AI683095, BC107604, DA370870
    Consensus CDS
    CCDS46845.1
    UniProtKB/Swiss-Prot
    Q06033
    Related
    ENSP00000415769.2, OTTHUMP00000213735, ENST00000449956.2, OTTHUMT00000352668
    Conserved Domains (3) summary
    smart00609
    Location:29158
    VIT; Vault protein Inter-alpha-Trypsin domain
    cd01461
    Location:281462
    vWA_interalpha_trypsin_inhibitor; vWA_interalpha trypsin inhibitor (ITI): ITI is a glycoprotein composed of three polypeptides- two heavy chains and one light chain (bikunin). Bikunin confers the protease-inhibitor function while the heavy chains are involved in rendering stability to ...
    pfam06668
    Location:684871
    ITI_HC_C; Inter-alpha-trypsin inhibitor heavy chain C-terminus

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    52794768..52809009
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005265105.5XP_005265162.1  inter-alpha-trypsin inhibitor heavy chain H3 isoform X1

    Conserved Domains (4) summary
    smart00609
    Location:29158
    VIT; Vault protein Inter-alpha-Trypsin domain
    cd01461
    Location:281462
    vWA_interalpha_trypsin_inhibitor; vWA_interalpha trypsin inhibitor (ITI): ITI is a glycoprotein composed of three polypeptides- two heavy chains and one light chain (bikunin). Bikunin confers the protease-inhibitor function while the heavy chains are involved in rendering stability to ...
    TIGR03788
    Location:47630
    marine_srt_targ; marine proteobacterial sortase target protein
    pfam06668
    Location:722908
    ITI_HC_C; Inter-alpha-trypsin inhibitor heavy chain C-terminus
  2. XM_024453512.1XP_024309280.1  inter-alpha-trypsin inhibitor heavy chain H3 isoform X2

    Conserved Domains (2) summary
    pfam06668
    Location:390577
    ITI_HC_C; Inter-alpha-trypsin inhibitor heavy chain C-terminus
    cl00057
    Location:1168
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
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