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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
  • 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. GO annotations related to this gene include calcium ion binding and serine-type endopeptidase inhibitor activity. An important paralog of this gene is ITIH2.

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

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

Genomics for ITIH1 Gene

Regulatory Elements for ITIH1 Gene

Genomic Location for ITIH1 Gene

Chromosome:
3
Start:
52,777,586 bp from pter
End:
52,792,068 bp from pter
Size:
14,483 bases
Orientation:
Plus strand

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

Proteomics data for ITIH1 Gene at MOPED

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 Cys 60, Asn 285, Asn 588, Thr 653, and Asn 750
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for ITIH1 Gene

Domains & Families for ITIH1 Gene

Graphical View of Domain Structure for InterPro Entry

P19827

UniProtKB/Swiss-Prot:

ITIH1_HUMAN :
  • Contains 1 VIT domain.
  • Belongs to the ITIH family.
Domain:
  • Contains 1 VIT domain.
  • Contains 1 VWFA domain.
Family:
  • Belongs to the ITIH family.
genes like me logo Genes that share domains with ITIH1: view

No data available for Gene Families for ITIH1 Gene

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.

Gene Ontology (GO) - Molecular Function for ITIH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase 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

miRNA for ITIH1 Gene

miRTarBase miRNAs that target ITIH1

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
Jensen Localization Image for ITIH1 Gene COMPARTMENTS Subcellular localization image for ITIH1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 2
cytosol 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ITIH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0072562 blood microparticle 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

Interacting Proteins for ITIH1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000273283%0d%0a9606.ENSP00000346839%0d%0a9606.ENSP00000263967%0d%0a
Selected Interacting proteins: ENSP00000273283 P19827-ITIH1_HUMAN for ITIH1 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for ITIH1 Gene

None

No data available for SIGNOR curated interactions for ITIH1 Gene

Drugs & Compounds for ITIH1 Gene

No Compound Related Data Available

Transcripts for ITIH1 Gene

Unigene Clusters for ITIH1 Gene

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

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 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



SOURCE GeneReport for Unigene cluster for ITIH1 Gene Hs.420257

genes like me logo Genes that share expression patterns with ITIH1: view

Protein tissue co-expression partners for ITIH1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt 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 36
  • 99 (a)
OneToOne
ITIH1 35
  • 99.3 (n)
  • 99.12 (a)
cow
(Bos Taurus)
Mammalia ITIH1 35
  • 85.24 (n)
  • 82.02 (a)
ITIH1 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ITIH1 36
  • 83 (a)
OneToOne
LOC476590 35
  • 84.87 (n)
  • 82.75 (a)
mouse
(Mus musculus)
Mammalia Itih1 36
  • 82 (a)
OneToOne
Itih1 16
Itih1 35
  • 83.57 (n)
  • 82.36 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia ITIH1 36
  • 50 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Itih1 35
  • 83.19 (n)
  • 84.4 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 49 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 49 (a)
ManyToMany
-- 36
  • 52 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii CR558302.3 36
  • 42 (a)
ManyToMany
zgc:110377 36
  • 42 (a)
ManyToMany
Species with no ortholog for ITIH1:
  • 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

P19827-ITIH1_HUMAN
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 Sequence Context AA Info Type
rs678 - 52,786,965(+) GGAGG(A/T)GAGGG reference, missense
rs1042779 - 52,786,995(+) CCTGC(A/G)GATGT reference, missense
rs1042777 - 52,782,040(+) TGTCA(C/G)TCGAG reference, missense, utr-variant-5-prime
rs1042904 - 52,788,309(+) AGCCT(G/T)GTGTT reference, missense
rs1042849 - 52,791,554(+) TCTGA(A/C)ATCCA reference, missense

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

Variant ID Type Subtype PubMed ID
nsv834698 CNV Gain 17160897
nsv508928 CNV Insertion 20534489
esv2725279 CNV Deletion 23290073
nsv876797 CNV Loss 21882294

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)

Relevant External Links for ITIH1 Gene

HapMap Linkage Disequilibrium report
ITIH1
Human Gene Mutation Database (HGMD)
ITIH1

Disorders for ITIH1 Gene

Relevant External Links for ITIH1

Genetic Association Database (GAD)
ITIH1
Human Genome Epidemiology (HuGE) Navigator
ITIH1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ITIH1

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 J.-P. (Biochim. Biophys. Acta 1994) 3 4 23 67
  2. 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 23
  3. The nuclear protein PH5P of the inter-alpha-inhibitor superfamily: a missing link between poly(ADP-ribose)polymerase and the inter-alpha- inhibitor family and a novel actor of DNA repair? (PMID: 10100603) Jean L. … Salier J.-P. (FEBS Lett. 1999) 2 3
  4. Human inter-alpha-trypsin inhibitor heavy chain H3 gene. Genomic organization, promoter analysis, and gene linkage. (PMID: 9756925) Diarra-Mehrpour M. … Martin J.-P. (J. Biol. Chem. 1998) 3 23
  5. Isolation and characterization of the human inter-alpha-trypsin inhibitor heavy-chain H1 gene. (PMID: 7505744) Bost F. … Diarra-Mehrpour M. (Eur. J. Biochem. 1993) 3 23

Products for ITIH1 Gene

Sources for ITIH1 Gene

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