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Aliases for ITIH1 Gene

Aliases for ITIH1 Gene

  • Inter-Alpha-Trypsin Inhibitor Heavy Chain 1 2 3 5
  • Inter-Alpha-Trypsin Inhibitor Complex Component III 3 4
  • Inter-Alpha (Globulin) Inhibitor, H1 Polypeptide 2 3
  • Serum-Derived Hyaluronan-Associated Protein 3 4
  • Inter-Alpha-Inhibitor Heavy Chain 1 3 4
  • ITI Heavy Chain H1 3 4
  • ITI-HC1 3 4
  • IGHEP1 3 4
  • SHAP 3 4
  • Inter-Alpha-Trypsin Inhibitor Heavy Chain H1 3
  • IATIH 3
  • ITIH 3
  • H1P 3

External Ids for ITIH1 Gene

Previous GeneCards Identifiers for ITIH1 Gene

  • GC03P051903
  • GC03P052063
  • GC03P052666
  • GC03P052768
  • GC03P052787
  • GC03P052811

Summaries for ITIH1 Gene

Entrez Gene Summary for ITIH1 Gene

  • This gene encodes a member of the inter-alpha-trypsin inhibitor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the heavy chain of the inter-alpha-trypsin inhibitor complex, which is secreted by hepatocytes into the blood. The heavy chain also interacts with hyaluronan, and this interaction may play a role in ovulation and fertilization, and has been implicated in multiple inflammatory diseases. This gene is present in a gene cluster on chromosome 3. [provided by RefSeq, Nov 2015]

GeneCards Summary for ITIH1 Gene

ITIH1 (Inter-Alpha-Trypsin Inhibitor Heavy Chain 1) is a Protein Coding gene. Among its related pathways are Cell adhesion_Cell-matrix glycoconjugates. Gene Ontology (GO) annotations related to this gene include calcium ion binding and serine-type endopeptidase inhibitor activity. An important paralog of this gene is ITIH3.

UniProtKB/Swiss-Prot for ITIH1 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.

  • Contains a potential peptide which could stimulate a broad spectrum of phagocytotic cells.

Gene Wiki entry for ITIH1 Gene

Additional gene information for ITIH1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITIH1 Gene

Genomics for ITIH1 Gene

GeneHancer (GH) Regulatory Elements for ITIH1 Gene

Promoters and enhancers for ITIH1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I052778 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 550.8 +2.2 2160 2.3 PKNOX1 MAX EBF1 YY1 POLR2A ATF7 IKZF2 SMARCA5 ZNF687 RXRA ITIH1 ITIH4 PBRM1 ENSG00000243696 MUSTN1 TMEM110-MUSTN1 STIMATE WDR82 ITIH3
GH03I052774 Enhancer 1.1 Ensembl ENCODE 550.8 -1.9 -1885 2.2 FOXA2 MLX ARID4B ZNF48 ETS1 YY1 RXRA REST PPARG KAT8 ITIH1 PBRM1 ITIH4-AS1 ITIH4 ENSG00000243696 MUSTN1 STIMATE TMEM110-MUSTN1 ITIH3 NEK4
GH03I052777 Promoter 0.9 EPDnew 550.8 0.0 -6 0.1 GATAD2A FOXA2 RXRA TAF1 FOXA3 MAX REST FOXA1 YY1 HNF1A ITIH1 NEK4
GH03I052782 Promoter 0.5 EPDnew 550.8 +4.6 4581 0.1 ITIH1 ENSG00000243696 MUSTN1 TMEM110-MUSTN1 STIMATE ITIH3
GH03I052779 Enhancer 0.5 ENCODE 550.8 +0.8 814 0.2 RXRA HNF4A REST YY1 ITIH1 ITIH3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ITIH1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ITIH1 gene promoter:

Genomic Locations for ITIH1 Gene

Genomic Locations for ITIH1 Gene
chr3:52,777,586-52,792,068
(GRCh38/hg38)
Size:
14,483 bases
Orientation:
Plus strand
chr3:52,811,603-52,826,078
(GRCh37/hg19)

Genomic View for ITIH1 Gene

Genes around ITIH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITIH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITIH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITIH1 Gene

Proteins for ITIH1 Gene

  • Protein details for ITIH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P19827-ITIH1_HUMAN
    Recommended name:
    Inter-alpha-trypsin inhibitor heavy chain H1
    Protein Accession:
    P19827
    Secondary Accessions:
    • A8K9N5
    • B2RAH9
    • B7Z558
    • B7Z8C0
    • F5H165
    • F5H7Y8
    • P78455
    • Q01746
    • Q562G1

    Protein attributes for ITIH1 Gene

    Size:
    911 amino acids
    Molecular mass:
    101389 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.

    Alternative splice isoforms for ITIH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ITIH1 Gene

Post-translational modifications for ITIH1 Gene

  • Heavy chains are linked to bikunin via chondroitin 4-sulfate esterified to the alpha-carboxyl of the C-terminal aspartate after propeptide cleavage.
  • The S-linked glycan is composed of two 6-carbon sugars, possibly Glc or Gal.
  • Glycosylation at posLast=6060, isoforms=2285, posLast=588588, isoforms=2, 3653, and isoforms=2, 3750

No data available for DME Specific Peptides for ITIH1 Gene

Domains & Families for ITIH1 Gene

Gene Families for ITIH1 Gene

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

Graphical View of Domain Structure for InterPro Entry

P19827

UniProtKB/Swiss-Prot:

ITIH1_HUMAN :
  • Belongs to the ITIH family.
Family:
  • Belongs to the ITIH family.
genes like me logo Genes that share domains with ITIH1: view

Function for ITIH1 Gene

Molecular function for ITIH1 Gene

GENATLAS Biochemistry:
trypsin inhibitor,inter-alpha- (protein HC),heavy chain 1
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.
UniProtKB/Swiss-Prot Function:
Contains a potential peptide which could stimulate a broad spectrum of phagocytotic cells.

Phenotypes From GWAS Catalog for ITIH1 Gene

Gene Ontology (GO) - Molecular Function for ITIH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase inhibitor activity IEA --
GO:0005509 calcium ion binding TAS 2446322
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with ITIH1: view
genes like me logo Genes that share phenotypes with ITIH1: view

Animal Model Products

CRISPR Products

miRNA for ITIH1 Gene

miRTarBase miRNAs that target ITIH1

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ITIH1 Gene

Localization for ITIH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITIH1 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 ITIH1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 2
plasma membrane 1
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ITIH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS 14718574
GO:0070062 extracellular exosome IDA,HDA 23376485
GO:0072562 blood microparticle HDA,IDA 22516433
genes like me logo Genes that share ontologies with ITIH1: view

Pathways & Interactions for ITIH1 Gene

genes like me logo Genes that share pathways with ITIH1: view

Pathways by source for ITIH1 Gene

1 GeneGo (Thomson Reuters) pathway for ITIH1 Gene

Gene Ontology (GO) - Biological Process for ITIH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 ITIH1: view

No data available for SIGNOR curated interactions for ITIH1 Gene

Drugs & Compounds for ITIH1 Gene

(1) Drugs for ITIH1 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved, Investigational Pharma Target 2430
genes like me logo Genes that share compounds with ITIH1: view

Transcripts for ITIH1 Gene

Unigene Clusters for ITIH1 Gene

Inter-alpha-trypsin inhibitor heavy chain 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ITIH1 Gene

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

ExUns: 17 ^ 18
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for ITIH1 Gene

GeneLoc Exon Structure for
ITIH1
ECgene alternative splicing isoforms for
ITIH1

Expression for ITIH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ITIH1 Gene

mRNA differential expression in normal tissues according to GTEx for ITIH1 Gene

This gene is overexpressed in Liver (x52.4).

Protein differential expression in normal tissues from HIPED for ITIH1 Gene

This gene is overexpressed in Serum (26.9), Synovial fluid (13.9), Plasma (11.9), and Monocytes (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ITIH1 Gene



Protein tissue co-expression partners for ITIH1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ITIH1 Gene:

ITIH1

SOURCE GeneReport for Unigene cluster for ITIH1 Gene:

Hs.420257

Evidence on tissue expression from TISSUES for ITIH1 Gene

  • Liver(4.9)
  • Blood(4.3)
  • Bone marrow(4.1)
  • Gall bladder(2.4)
genes like me logo Genes that share expression patterns with ITIH1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ITIH1 Gene

Orthologs for ITIH1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ITIH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ITIH1 33 34
  • 99.3 (n)
cow
(Bos Taurus)
Mammalia ITIH1 33 34
  • 85.24 (n)
dog
(Canis familiaris)
Mammalia LOC476590 33
  • 84.87 (n)
ITIH1 34
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Itih1 33 16 34
  • 83.57 (n)
rat
(Rattus norvegicus)
Mammalia Itih1 33
  • 83.19 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ITIH1 34
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 49 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 52 (a)
ManyToMany
-- 34
  • 49 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii CR558302.3 34
  • 42 (a)
ManyToMany
zgc:110377 34
  • 42 (a)
ManyToMany
Species where no ortholog for ITIH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 ITIH1 Gene

ENSEMBL:
Gene Tree for ITIH1 (if available)
TreeFam:
Gene Tree for ITIH1 (if available)

Paralogs for ITIH1 Gene

Paralogs for ITIH1 Gene

(5) SIMAP similar genes for ITIH1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with ITIH1: view

Variants for ITIH1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ITIH1 Gene

ITIH1_HUMAN-P19827
There are 3 common alleles; ITIH1*1 with Glu-585/Gln-595, ITIH1*2 with Val-585/Arg-595 and ITIH1*3 with Glu-585/Arg-595.

Sequence variations from dbSNP and Humsavar for ITIH1 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1042779 benign, INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 1 POLYMORPHISM 52,786,995(+) A/G coding_sequence_variant, missense_variant
rs678 benign, INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 1 POLYMORPHISM 52,786,965(+) A/T coding_sequence_variant, missense_variant
rs1000343995 -- 52,785,126(+) A/G coding_sequence_variant, missense_variant
rs1000480004 -- 52,790,959(+) T/G intron_variant
rs1000490021 -- 52,791,248(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ITIH1 Gene

Variant ID Type Subtype PubMed ID
esv2725279 CNV deletion 23290073
esv2762328 CNV loss 21179565
nsv1010761 CNV gain 25217958
nsv508928 CNV insertion 20534489
nsv834698 CNV gain 17160897

Variation tolerance for ITIH1 Gene

Residual Variation Intolerance Score: 87.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.02; 93.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ITIH1 Gene

Human Gene Mutation Database (HGMD)
ITIH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ITIH1

Disorders for ITIH1 Gene

Additional Disease Information for ITIH1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for ITIH1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ITIH1 Gene

Publications for ITIH1 Gene

  1. 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 58
  2. Isolation and characterization of the human inter-alpha-trypsin inhibitor heavy-chain H1 gene. (PMID: 7505744) Bost F … Diarra-Mehrpour M (European journal of biochemistry 1993) 3 4 22 58
  3. Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population. (PMID: 19367581) So HC … Sham PC (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 44 58
  4. Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry. (PMID: 19416921) Scott LJ … Boehnke M (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 44 58
  5. Frequent expression loss of Inter-alpha-trypsin inhibitor heavy chain (ITIH) genes in multiple human solid tumors: a systematic expression analysis. (PMID: 18226209) Hamm A … Dahl E (BMC cancer 2008) 3 22 58

Products for ITIH1 Gene

Sources for ITIH1 Gene

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