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Aliases for ITIH4 Gene

Aliases for ITIH4 Gene

  • Inter-Alpha-Trypsin Inhibitor Heavy Chain Family Member 4 2 3 5
  • Inter-Alpha (Globulin) Inhibitor H4 (Plasma Kallikrein-Sensitive Glycoprotein) 2 3
  • Inter-Alpha-Trypsin Inhibitor Family Heavy Chain-Related Protein 3 4
  • Inter-Alpha-Trypsin Inhibitor Heavy Chain Family, Member 4 2 3
  • Inter-Alpha-Inhibitor Heavy Chain 4 3 4
  • ITI Heavy Chain H4 3 4
  • ITI-HC4 3 4
  • ITIHL1 3 4
  • PK-120 3 4
  • GP120 3 4
  • PK120 3 4
  • IHRP 3 4
  • Inter-Alpha-Trypsin Inhibitor, Heavy Chain-Like, 1 3
  • Plasma Kallikrein-Sensitive Glycoprotein 120 3
  • Plasma Kallikrein Sensitive Glycoprotein 120 4
  • Plasma Kallikrein-Sensitive Glycoprotein 2
  • H4P 3

External Ids for ITIH4 Gene

Previous HGNC Symbols for ITIH4 Gene

  • ITIHL1

Previous GeneCards Identifiers for ITIH4 Gene

  • GC03M051939
  • GC03M052098
  • GC03M052701
  • GC03M052804
  • GC03M052822
  • GC03M052846

Summaries for ITIH4 Gene

Entrez Gene Summary for ITIH4 Gene

  • The protein encoded by this gene is secreted into the blood, where it is cleaved by plasma kallikrein into two smaller forms. Expression of this gene has been detected only in liver, and it seems to be upregulated during surgical trauma. This gene is part of a cluster of similar genes on chromosome 3. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

GeneCards Summary for ITIH4 Gene

ITIH4 (Inter-Alpha-Trypsin Inhibitor Heavy Chain Family Member 4) is a Protein Coding gene. Diseases associated with ITIH4 include hypercholesterolemia, familial and cystitis. Among its related pathways are Platelet activation, signaling and aggregation. 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 ITIH4 Gene

  • Type II acute-phase protein (APP) involved in inflammatory responses to trauma. May also play a role in liver development or regeneration.

Gene Wiki entry for ITIH4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITIH4 Gene

Genomics for ITIH4 Gene

Genomic Location for ITIH4 Gene

Chromosome:
3
Start:
52,812,975 bp from pter
End:
52,831,479 bp from pter
Size:
18,505 bases
Orientation:
Minus strand

Genomic View for ITIH4 Gene

Genes around ITIH4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITIH4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITIH4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITIH4 Gene

Proteins for ITIH4 Gene

  • Protein details for ITIH4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14624-ITIH4_HUMAN
    Recommended name:
    Inter-alpha-trypsin inhibitor heavy chain H4
    Protein Accession:
    Q14624
    Secondary Accessions:
    • B7Z545
    • E9PGN5
    • Q15135
    • Q9P190
    • Q9UQ54

    Protein attributes for ITIH4 Gene

    Size:
    930 amino acids
    Molecular mass:
    103357 Da
    Quaternary structure:
    • Interacts (via C-terminus) with DNAJC1 (via SANT 2 domain); this interaction protects ITIH4 against cleavage by kallikrein in vitro.
    Miscellaneous:
    • Possible biomarker for acute ischemic stroke (PubMed:19263524). Peptides derived from the proline-rich potentially active peptide (PRO_0000016542) may be biomarkers for a variety of disease states including breast cancer (PubMed:21137033).

    Alternative splice isoforms for ITIH4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ITIH4 Gene

Proteomics data for ITIH4 Gene at MOPED

Post-translational modifications for ITIH4 Gene

  • Cleaved by plasma kallikrein to yield 100 kDa and 35 kDa fragments, and the resulting 100 kDa fragment is further converted to a 70 kDa fragment.
  • N- and O-glycosylated. In urine, O-linked glycosylation on threonine residues in the region from Thr-719 to Thr-725 consists of core 1 or possibly core 8 glycans. Mainly Hex(HexNAc)(2), but also some Hex(3)(HexNAc)(3). N-glycosylated but not O-glycosylated in plasma.
  • Glycosylation at Asn 81, Asn 207, Asn 274, Asn 517, Asn 577, Thr 719, Thr 720, and Thr 722
  • Modification sites at PhosphoSitePlus

Other Protein References for ITIH4 Gene

Antibody Products

No data available for DME Specific Peptides for ITIH4 Gene

Domains & Families for ITIH4 Gene

Graphical View of Domain Structure for InterPro Entry

Q14624

UniProtKB/Swiss-Prot:

ITIH4_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 ITIH4: view

No data available for Gene Families for ITIH4 Gene

Function for ITIH4 Gene

Molecular function for ITIH4 Gene

GENATLAS Biochemistry:
trypsin inhibitor inter-alpha (protein HC),heavy chain 4
UniProtKB/Swiss-Prot Function:
Type II acute-phase protein (APP) involved in inflammatory responses to trauma. May also play a role in liver development or regeneration.
UniProtKB/Swiss-Prot Induction:
Levels increase from 1.4 to 3-fold in acute-phase processes such as in acute ischemia stroke (AIS), unstable angina and programmed surgery. In hepatocytes, induced by IL6 but not by other cytokines such as IL1B.
genes like me logo Genes that share phenotypes with ITIH4: view

Animal Models for ITIH4 Gene

MGI Knock Outs for ITIH4:

Animal Model Products

miRNA for ITIH4 Gene

miRTarBase miRNAs that target ITIH4

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ITIH4 Gene

Localization for ITIH4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITIH4 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ITIH4 Gene COMPARTMENTS Subcellular localization image for ITIH4 gene
Compartment Confidence
extracellular 5
plasma membrane 4
mitochondrion 3
cytoskeleton 2
cytosol 2
endoplasmic reticulum 2
golgi apparatus 2
nucleus 2
vacuole 2
endosome 1
lysosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ITIH4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with ITIH4: view

Pathways & Interactions for ITIH4 Gene

genes like me logo Genes that share pathways with ITIH4: view

Interacting Proteins for ITIH4 Gene

Gene Ontology (GO) - Biological Process for ITIH4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006953 acute-phase response IEP 19263524
GO:0010951 negative regulation of endopeptidase activity IEA,TAS 9756925
genes like me logo Genes that share ontologies with ITIH4: view

No data available for SIGNOR curated interactions for ITIH4 Gene

Drugs & Compounds for ITIH4 Gene

(41) Drugs for ITIH4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(56) Additional Compounds for ITIH4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ITIH4: view

Transcripts for ITIH4 Gene

Unigene Clusters for ITIH4 Gene

Inter-alpha-trypsin inhibitor heavy chain family, member 4:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ITIH4 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^
SP1: - -
SP2: - - - -
SP3: - -
SP4: - -
SP5:
SP6:
SP7: - - - - - - - - -
SP8: - - - - - - - - - -
SP9:
SP10:
SP11: - -
SP12: -

ExUns: 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19 ^ 20a · 20b ^ 21 ^ 22a · 22b · 22c · 22d · 22e ^ 23 ^ 24a · 24b ^ 25a · 25b ^ 26
SP1: - - - -
SP2: - - - - - - - - - -
SP3: - - - - - -
SP4: -
SP5: -
SP6: - - - - - -
SP7:
SP8:
SP9: - -
SP10:
SP11:
SP12:

Relevant External Links for ITIH4 Gene

GeneLoc Exon Structure for
ITIH4
ECgene alternative splicing isoforms for
ITIH4

Expression for ITIH4 Gene

mRNA expression in normal human tissues for ITIH4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ITIH4 Gene

This gene is overexpressed in Serum (20.3), Synovial fluid (17.2), Plasma (13.6), and Urine (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ITIH4 Gene



SOURCE GeneReport for Unigene cluster for ITIH4 Gene Hs.709406

mRNA Expression by UniProt/SwissProt for ITIH4 Gene

Q14624-ITIH4_HUMAN
Tissue specificity: Liver specific.
genes like me logo Genes that share expression patterns with ITIH4: view

Protein tissue co-expression partners for ITIH4 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for ITIH4 Gene

Orthologs for ITIH4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ITIH4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ITIH4 35
  • 99.26 (n)
  • 98.78 (a)
ITIH4 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ITIH4 36
  • 73 (a)
OneToOne
ITIH4 35
  • 80.29 (n)
  • 73.94 (a)
dog
(Canis familiaris)
Mammalia ITIH4 35
  • 81.29 (n)
  • 75.37 (a)
ITIH4 36
  • 70 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Itih4 16
Itih4 35
  • 74.72 (n)
  • 69.35 (a)
Itih4 36
  • 65 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 54 (a)
OneToMany
-- 36
  • 51 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia ITIH4 36
  • 52 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Itih4 35
  • 73.83 (n)
  • 68.87 (a)
lizard
(Anolis carolinensis)
Reptilia ITIH4 36
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487172 35
  • 56.47 (n)
  • 51.72 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8594 35
zebrafish
(Danio rerio)
Actinopterygii wufb66b03 35
zgc:112265 35
  • 52.1 (n)
  • 45.38 (a)
ITIH4 36
  • 50 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1308 35
Species with no ortholog for ITIH4:
  • 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)
  • chicken (Gallus gallus)
  • 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 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ITIH4 Gene

ENSEMBL:
Gene Tree for ITIH4 (if available)
TreeFam:
Gene Tree for ITIH4 (if available)

Paralogs for ITIH4 Gene

Paralogs for ITIH4 Gene

(6) SIMAP similar genes for ITIH4 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with ITIH4: view

Variants for ITIH4 Gene

Sequence variations from dbSNP and Humsavar for ITIH4 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_013836 -
rs13072536 - 52,827,195(+) CGATG(A/T)TCCTG reference, missense
rs2276814 - 52,819,464(+) CAAGT(A/T)GCCTG reference, missense
rs4687657 - 52,818,522(+) TGGTG(A/G/T)TGCTG reference, missense
rs2256734 - 52,818,472(+) ATTTT(C/G)ATATT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ITIH4 Gene

Variant ID Type Subtype PubMed ID
nsv834698 CNV Gain 17160897
nsv508928 CNV Insertion 20534489
nsv876797 CNV Loss 21882294
nsv3822 CNV Insertion 18451855
nsv876798 CNV Loss 21882294

Variation tolerance for ITIH4 Gene

Residual Variation Intolerance Score: 87% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.60; 86.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ITIH4 Gene

HapMap Linkage Disequilibrium report
ITIH4
Human Gene Mutation Database (HGMD)
ITIH4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITIH4 Gene

Disorders for ITIH4 Gene

MalaCards: The human disease database

(10) MalaCards diseases for ITIH4 Gene - From: OMIM, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypercholesterolemia, familial
  • hypercholesterolemia, familial, modifier of
cystitis
  • infective cystitis
human immunodeficiency virus infectious disease
viral infectious disease
  • arbovirus infectious disease
granulocytopenia
  • agranulocytosis
- elite association - COSMIC cancer census association via MalaCards
Search ITIH4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ITIH4

Genetic Association Database (GAD)
ITIH4
Human Genome Epidemiology (HuGE) Navigator
ITIH4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ITIH4
genes like me logo Genes that share disorders with ITIH4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ITIH4 Gene

Publications for ITIH4 Gene

  1. cDNA and deduced amino acid sequence of human PK-120, a plasma kallikrein-sensitive glycoprotein. (PMID: 7805892) Nishimura H. … Nagasawa S. (FEBS Lett. 1995) 2 3 4 67
  2. SNP analysis of the inter-alpha-trypsin inhibitor family heavy chain- related protein (IHRP) gene by a fluorescence-adapted SSCP method. (PMID: 12147176) Tozaki T. … Tomita M. (BMC Med. Genet. 2002) 3 23
  3. The H4P heavy chain of inter-alpha-inhibitor family largely differs in the structure and synthesis of its prolin-rich region from rat to human. (PMID: 9480842) Soury E. … Salier J.P. (Biochem. Biophys. Res. Commun. 1998) 2 3
  4. Isolation and characterization of the human inter-alpha-trypsin inhibitor family heavy chain-related protein (IHRP) gene (ITIHL1). (PMID: 8797089) Saguchi K. … Tomita M. (J. Biochem. 1996) 3 23
  5. Purification and characterization of a novel glycoprotein which has significant homology to heavy chains of inter-alpha-trypsin inhibitor family from human plasma. (PMID: 7541790) Choi-Miura N.-H. … Tomita M. (J. Biochem. 1995) 3 23

Products for ITIH4 Gene

Sources for ITIH4 Gene

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