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Aliases for ITIH3 Gene

Aliases for ITIH3 Gene

  • Inter-Alpha-Trypsin Inhibitor Heavy Chain 3 2 3 5
  • Inter-Alpha (Globulin) Inhibitor, H3 Polypeptide 2 3
  • Pre-Alpha (Globulin) Inhibitor, H3 Polypeptide 2 3
  • Inter-Alpha-Trypsin Inhibitor Heavy Chain H3 2 3
  • Serum-Derived Hyaluronan-Associated Protein 3 4
  • Inter-Alpha (Globulin) Inhibitor H3 2 3
  • Inter-Alpha-Inhibitor Heavy Chain 3 3 4
  • ITI Heavy Chain H3 3 4
  • ITI-HC3 3 4
  • SHAP 3 4
  • H3P 3

External Ids for ITIH3 Gene

Previous GeneCards Identifiers for ITIH3 Gene

  • GC03P051920
  • GC03P052080
  • GC03P052683
  • GC03P052786
  • GC03P052803
  • GC03P052828

Summaries for ITIH3 Gene

Entrez Gene Summary for ITIH3 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 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]

GeneCards Summary for ITIH3 Gene

ITIH3 (Inter-Alpha-Trypsin Inhibitor Heavy Chain 3) is a Protein Coding gene. Diseases associated with ITIH3 include Schizophrenia. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Cell adhesion_Cell-matrix glycoconjugates. GO annotations related to this gene include serine-type endopeptidase inhibitor activity and endopeptidase inhibitor activity. An important paralog of this gene is ITIH1.

UniProtKB/Swiss-Prot for ITIH3 Gene

  • 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 essential to cells undergoing biological processes.

Gene Wiki entry for ITIH3 Gene

Additional gene information for ITIH3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITIH3 Gene

Genomics for ITIH3 Gene

Regulatory Elements for ITIH3 Gene

Enhancers for ITIH3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H052844 1.4 Ensembl ENCODE dbSUPER 10.8 +50.7 50685 2.3 ELF3 FOXA2 ARID4B RAD21 YY1 THAP11 SP5 CEBPB REST NR2F2 ITIH4 ITIH1 ITIH3 MIR8064 PIR43341
GH03H052769 1.1 ENCODE 12.8 -23.9 -23881 2.1 HDGF FOXA2 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF207 ZNF143 SP3 PBRM1 RFT1 ITIH3 RRP9 ITIH4-AS1 ENSG00000243696 ITIH4 SNORD69 GNL3 MUSTN1
GH03H052762 0.8 Ensembl ENCODE 12.7 -31.2 -31176 1.5 MAFF JUND JUN STAT3 CEBPB EP300 PRDM1 PBRM1 ITIH3 SNORD69 GNL3 SNORD19 SNORD19B ENSG00000252787 ENSG00000222345 NEK4 LOC101059924
GH03H053140 1.6 FANTOM5 Ensembl ENCODE dbSUPER 4.9 +346.3 346334 1.4 HDGF ZSCAN26 ZSCAN4 ZNF133 MAX EBF1 PAX8 SALL2 ZFHX2 FOXK2 GLT8D1 RFT1 NISCH PBRM1 PRKCD ACTR8 NEK4 TMEM110 ITIH4 DCP1A
GH03H052274 1.7 Ensembl ENCODE dbSUPER 4.5 -511.9 -511914 17.3 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 PBRM1 LOC101929054 PPM1M TWF2 ITIH4 GLYCTK RRP9 RFT1 RAD54L2 DCAF1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ITIH3 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ITIH3 Gene

Genomic Locations for ITIH3 Gene
chr3:52,794,768-52,809,009
(GRCh38/hg38)
Size:
14,242 bases
Orientation:
Plus strand
chr3:52,828,784-52,843,025
(GRCh37/hg19)

Genomic View for ITIH3 Gene

Genes around ITIH3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITIH3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITIH3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITIH3 Gene

Proteins for ITIH3 Gene

  • Protein details for ITIH3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q06033-ITIH3_HUMAN
    Recommended name:
    Inter-alpha-trypsin inhibitor heavy chain H3
    Protein Accession:
    Q06033
    Secondary Accessions:
    • Q3B7H5
    • Q53F06
    • Q6LAM2
    • Q99085

    Protein attributes for ITIH3 Gene

    Size:
    890 amino acids
    Molecular mass:
    99849 Da
    Quaternary structure:
    • I-alpha-I plasma protease inhibitors are assembled from one or two heavy chains (H1, H2 or H3) and one light chain, bikunin. Inter-alpha-inhibitor (I-alpha-I) is composed of H1, H2 and bikunin, inter-alpha-like inhibitor (I-alpha-LI) of H2 and bikunin, and pre-alpha-inhibitor (P-alpha-I) of H3 and bikunin.
    SequenceCaution:
    • Sequence=CAA32821.1; Type=Frameshift; Positions=732, 736, 739; Evidence={ECO:0000305}; Sequence=CAA47439.1; Type=Frameshift; Positions=21, 732, 736, 739; Evidence={ECO:0000305};

    Alternative splice isoforms for ITIH3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ITIH3 Gene

Post-translational modifications for ITIH3 Gene

  • Heavy chains are linked to bikunin via chondroitin 4-sulfate esterified to the alpha-carboxyl of the C-terminal aspartate after propeptide cleavage.
  • Glycosylation at posLast=9191 and posLast=580580
  • Modification sites at PhosphoSitePlus

Other Protein References for ITIH3 Gene

No data available for DME Specific Peptides for ITIH3 Gene

Domains & Families for ITIH3 Gene

Gene Families for ITIH3 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for ITIH3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q06033

UniProtKB/Swiss-Prot:

ITIH3_HUMAN :
  • Belongs to the ITIH family.
Family:
  • Belongs to the ITIH family.
genes like me logo Genes that share domains with ITIH3: view

Function for ITIH3 Gene

Molecular function for ITIH3 Gene

GENATLAS Biochemistry:
trypsin inhibitor,inter-alpha- (protein HC),heavy chain 3
UniProtKB/Swiss-Prot 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 essential to cells undergoing biological processes.

Phenotypes From GWAS Catalog for ITIH3 Gene

Gene Ontology (GO) - Molecular Function for ITIH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004866 endopeptidase inhibitor activity TAS 2465147
GO:0004867 serine-type endopeptidase inhibitor activity IEA --
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with ITIH3: view
genes like me logo Genes that share phenotypes with ITIH3: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ITIH3 Gene

Localization for ITIH3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITIH3 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ITIH3 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 2
plasma membrane 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ITIH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0031089 platelet dense granule lumen TAS --
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with ITIH3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ITIH3 Gene

Pathways & Interactions for ITIH3 Gene

genes like me logo Genes that share pathways with ITIH3: view

Pathways by source for ITIH3 Gene

Gene Ontology (GO) - Biological Process for ITIH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0010466 negative regulation of peptidase activity IEA --
GO:0010951 negative regulation of endopeptidase activity IEA --
GO:0030212 hyaluronan metabolic process IEA --
genes like me logo Genes that share ontologies with ITIH3: view

No data available for SIGNOR curated interactions for ITIH3 Gene

Drugs & Compounds for ITIH3 Gene

(2) Drugs for ITIH3 Gene - From: DrugBank and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved Pharma Target 2359
Clozapine Approved Pharma Antagonist Antipsychotic medication 120
genes like me logo Genes that share compounds with ITIH3: view

Transcripts for ITIH3 Gene

Unigene Clusters for ITIH3 Gene

Inter-alpha-trypsin inhibitor heavy chain 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ITIH3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15 ^ 16 ^
SP1: - -
SP2:
SP3: -
SP4: -
SP5: -
SP6:
SP7:
SP8: - -
SP9:
SP10:

ExUns: 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for ITIH3 Gene

GeneLoc Exon Structure for
ITIH3
ECgene alternative splicing isoforms for
ITIH3

Expression for ITIH3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ITIH3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ITIH3 Gene

This gene is overexpressed in Liver (x45.3).

Protein differential expression in normal tissues from HIPED for ITIH3 Gene

This gene is overexpressed in Serum (35.0), Plasma (12.9), and Synovial fluid (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ITIH3 Gene



Protein tissue co-expression partners for ITIH3 Gene

NURSA nuclear receptor signaling pathways regulating expression of ITIH3 Gene:

ITIH3

SOURCE GeneReport for Unigene cluster for ITIH3 Gene:

Hs.76716

Evidence on tissue expression from TISSUES for ITIH3 Gene

  • Liver(4.9)
  • Blood(4.3)
  • Bone marrow(4)
genes like me logo Genes that share expression patterns with ITIH3: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ITIH3 Gene

Orthologs for ITIH3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ITIH3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ITIH3 33 34
  • 99.36 (n)
dog
(Canis familiaris)
Mammalia ITIH3 33 34
  • 88.35 (n)
cow
(Bos Taurus)
Mammalia ITIH3 33 34
  • 87.53 (n)
mouse
(Mus musculus)
Mammalia Itih3 33 16 34
  • 84.68 (n)
rat
(Rattus norvegicus)
Mammalia Itih3 33
  • 84.12 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 74 (a)
OneToMany
-- 34
  • 70 (a)
OneToMany
-- 34
  • 57 (a)
OneToMany
-- 34
  • 52 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia ITIH3 34
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves ITIH3 33
  • 66.31 (n)
-- 34
  • 64 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 64 (a)
ManyToMany
-- 34
  • 60 (a)
ManyToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.5040 33
zebrafish
(Danio rerio)
Actinopterygii LOC564761 33
  • 58.81 (n)
zgc:110377 34
  • 49 (a)
ManyToMany
CR558302.3 34
  • 48 (a)
ManyToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9191 33
Species where no ortholog for ITIH3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ITIH3 Gene

ENSEMBL:
Gene Tree for ITIH3 (if available)
TreeFam:
Gene Tree for ITIH3 (if available)

Paralogs for ITIH3 Gene

Paralogs for ITIH3 Gene

(6) SIMAP similar genes for ITIH3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ITIH3: view

Variants for ITIH3 Gene

Sequence variations from dbSNP and Humsavar for ITIH3 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000008868 -- 52,803,885(+) GAGAA(C/T)CTCAC reference, synonymous-codon
rs1000036222 -- 52,802,120(+) ACTTC(C/T)GAAAC intron-variant
rs1000226377 -- 52,803,710(+) TTCTC(C/T)GAGCC intron-variant
rs1000601227 -- 52,797,596(+) TGGAA(A/T)TTCGG intron-variant
rs1000921728 -- 52,794,196(+) GAAGG(A/G)GAGGG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for ITIH3 Gene

Variant ID Type Subtype PubMed ID
nsv834698 CNV gain 17160897
nsv508928 CNV insertion 20534489
nsv3822 CNV insertion 18451855
nsv1010761 CNV gain 25217958
esv3452194 CNV duplication 20981092
esv2762328 CNV loss 21179565

Variation tolerance for ITIH3 Gene

Residual Variation Intolerance Score: 96.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.25; 76.29% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ITIH3 Gene

Human Gene Mutation Database (HGMD)
ITIH3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ITIH3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITIH3 Gene

Disorders for ITIH3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ITIH3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
schizophrenia
  • schizophrenia 12
- elite association - COSMIC cancer census association via MalaCards
Search ITIH3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ITIH3

Genetic Association Database (GAD)
ITIH3
Human Genome Epidemiology (HuGE) Navigator
ITIH3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ITIH3
genes like me logo Genes that share disorders with ITIH3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ITIH3 Gene

Publications for ITIH3 Gene

  1. A functional SNP in ITIH3 is associated with susceptibility to myocardial infarction. (PMID: 17211523) Ebana Y … Tanaka T (Journal of human genetics 2007) 3 22 45 60
  2. Human inter-alpha-trypsin inhibitor heavy chain H3 gene. Genomic organization, promoter analysis, and gene linkage. (PMID: 9756925) Diarra-Mehrpour M … Martin JP (The Journal of biological chemistry 1998) 3 4 22 60
  3. Tandem orientation of the inter-alpha-trypsin inhibitor heavy chain H1 and H3 genes. (PMID: 7522574) Diarra-Mehrpour M … Martin JP (Biochimica et biophysica acta 1994) 3 4 22 60
  4. Human plasma inter-alpha-trypsin inhibitor is encoded by four genes on three chromosomes. (PMID: 2465147) Diarra-Mehrpour M … Martin JP (European journal of biochemistry 1989) 2 3 4 60
  5. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. (PMID: 21926972) Psychiatric GWAS Consortium Bipolar Disorder Working Group (Nature genetics 2011) 3 45 60

Products for ITIH3 Gene

Sources for ITIH3 Gene

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