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Aliases for ITIH5 Gene

Aliases for ITIH5 Gene

  • Inter-Alpha-Trypsin Inhibitor Heavy Chain Family Member 5 2 3 5
  • Inter-Alpha-Trypsin Inhibitor Heavy Chain Family, Member 5 2 3
  • Inter-Alpha (Globulin) Inhibitor H5 2 3
  • Inter-Alpha-Inhibitor Heavy Chain 5 3 4
  • ITI Heavy Chain H5 3 4
  • ITI-HC5 3 4
  • KIAA1953 4
  • PP14776 3

External Ids for ITIH5 Gene

Previous GeneCards Identifiers for ITIH5 Gene

  • GC10M007754
  • GC10M007608
  • GC10M007641
  • GC10M007519
  • GC10M007601

Summaries for ITIH5 Gene

Entrez Gene Summary for ITIH5 Gene

  • This gene encodes a heavy chain component of one of the inter-alpha-trypsin inhibitor (ITI) family members. ITI proteins are involved in extracellular matrix stabilization and in the prevention of tumor metastasis. They are also structurally related plasma serine protease inhibitors and are composed of a light chain and varying numbers of heavy chains. This family member is thought to function as a tumor suppressor in breast and thyroid cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

GeneCards Summary for ITIH5 Gene

ITIH5 (Inter-Alpha-Trypsin Inhibitor Heavy Chain Family Member 5) is a Protein Coding gene. GO annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is ITIH1.

UniProtKB/Swiss-Prot for ITIH5 Gene

  • May act as a tumor suppressor.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITIH5 Gene

Genomics for ITIH5 Gene

Regulatory Elements for ITIH5 Gene

Enhancers for ITIH5 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ITIH5 on UCSC Golden Path with GeneCards custom track

Genomic Location for ITIH5 Gene

7,559,270 bp from pter
7,666,998 bp from pter
107,729 bases
Minus strand

Genomic View for ITIH5 Gene

Genes around ITIH5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITIH5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITIH5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITIH5 Gene

Proteins for ITIH5 Gene

  • Protein details for ITIH5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Inter-alpha-trypsin inhibitor heavy chain H5
    Protein Accession:
    Secondary Accessions:
    • Q5T664
    • Q5T665
    • Q5T666
    • Q6AI60
    • Q6UXB7
    • Q8TF48
    • Q8WYV2
    • Q96K70

    Protein attributes for ITIH5 Gene

    942 amino acids
    Molecular mass:
    104576 Da
    Quaternary structure:
    No Data Available
    • Sequence=CAI12953.1; Type=Frameshift; Positions=933; Evidence={ECO:0000305}; Sequence=CAI12955.1; Type=Frameshift; Positions=933; Evidence={ECO:0000305}; Sequence=CAI16360.1; Type=Frameshift; Positions=933; Evidence={ECO:0000305}; Sequence=CAI16363.1; Type=Frameshift; Positions=933; Evidence={ECO:0000305};

    Alternative splice isoforms for ITIH5 Gene


neXtProt entry for ITIH5 Gene

Proteomics data for ITIH5 Gene at MOPED

Post-translational modifications for ITIH5 Gene

  • Glycosylation at Asn 97, Asn 127, Asn 231, Asn 421, Asn 508, Asn 776, Asn 795, and Asn 862
  • Modification sites at PhosphoSitePlus

Other Protein References for ITIH5 Gene

No data available for DME Specific Peptides for ITIH5 Gene

Domains & Families for ITIH5 Gene

Suggested Antigen Peptide Sequences for ITIH5 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 VIT domain.
  • Belongs to the ITIH family.
  • Contains 1 VIT domain.
  • Contains 1 VWFA domain.
  • Belongs to the ITIH family.
genes like me logo Genes that share domains with ITIH5: view

No data available for Gene Families for ITIH5 Gene

Function for ITIH5 Gene

Molecular function for ITIH5 Gene

UniProtKB/Swiss-Prot Function:
May act as a tumor suppressor.
UniProtKB/Swiss-Prot Induction:
Down-regulated in breast tumors.
genes like me logo Genes that share phenotypes with ITIH5: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ITIH5

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ITIH5 Gene

Localization for ITIH5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITIH5 Gene


Subcellular locations from

Jensen Localization Image for ITIH5 Gene COMPARTMENTS Subcellular localization image for ITIH5 gene
Compartment Confidence
extracellular 4
endoplasmic reticulum 2
golgi apparatus 2
plasma membrane 2

No data available for Gene Ontology (GO) - Cellular Components for ITIH5 Gene

Pathways & Interactions for ITIH5 Gene

SuperPathways for ITIH5 Gene

No Data Available

Interacting Proteins for ITIH5 Gene

Gene Ontology (GO) - Biological Process for ITIH5 Gene


No data available for Pathways by source and SIGNOR curated interactions for ITIH5 Gene

Drugs & Compounds for ITIH5 Gene

No Compound Related Data Available

Transcripts for ITIH5 Gene

Unigene Clusters for ITIH5 Gene

Inter-alpha-trypsin inhibitor heavy chain family, member 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ITIH5 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19
SP1: - - - - -
SP2: - -
SP3: - -

Relevant External Links for ITIH5 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ITIH5 Gene

mRNA expression in normal human tissues for ITIH5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ITIH5 Gene

This gene is overexpressed in Adipose - Subcutaneous (x5.4).

Protein differential expression in normal tissues from HIPED for ITIH5 Gene

This gene is overexpressed in Adipocyte (28.3) and Nasopharynx (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ITIH5 Gene

SOURCE GeneReport for Unigene cluster for ITIH5 Gene Hs.498586

mRNA Expression by UniProt/SwissProt for ITIH5 Gene

Tissue specificity: Abundantly expressed in placenta. Less abundant expression in mammary gland and ovary. Expression is barely detectable levels in all other tissues tested.
genes like me logo Genes that share expression patterns with ITIH5: view

Primer Products

No data available for Protein tissue co-expression partners for ITIH5 Gene

Orthologs for ITIH5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ITIH5 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia ITIH5 35
  • 82.6 (n)
  • 80.9 (a)
ITIH5 36
  • 81 (a)
(Canis familiaris)
Mammalia ITIH5 35
  • 81.91 (n)
  • 81.8 (a)
ITIH5 36
  • 80 (a)
(Mus musculus)
Mammalia Itih5 35
  • 80.94 (n)
  • 78.49 (a)
Itih5 16
Itih5 36
  • 77 (a)
(Pan troglodytes)
Mammalia ITIH5 35
  • 98.9 (n)
  • 98.76 (a)
ITIH5 36
  • 99 (a)
(Monodelphis domestica)
Mammalia ITIH5 36
  • 75 (a)
(Ornithorhynchus anatinus)
Mammalia ITIH5 36
  • 71 (a)
(Gallus gallus)
Aves ITIH5 35
  • 68.34 (n)
  • 64.7 (a)
ITIH5 36
  • 61 (a)
(Anolis carolinensis)
Reptilia ITIH5 36
  • 60 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia itih5 35
  • 62.44 (n)
  • 59.59 (a)
Str.11873 35
(Danio rerio)
Actinopterygii itih5 35
  • 58.94 (n)
  • 53.54 (a)
itih5 36
  • 50 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 24 (a)
Species with no ortholog for ITIH5:
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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 ITIH5 Gene

Gene Tree for ITIH5 (if available)
Gene Tree for ITIH5 (if available)

Paralogs for ITIH5 Gene

Paralogs for ITIH5 Gene

(5) SIMAP similar genes for ITIH5 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with ITIH5: view

Variants for ITIH5 Gene

Sequence variations from dbSNP and Humsavar for ITIH5 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs12761771 - 7,637,465(+) TATTT(C/T)AGTCC reference, missense
rs36056263 -, - 7,579,912(-) TCCTC(A/C)ACAAC reference, missense
rs2275069 - 7,576,723(+) GTTGG(G/T)GTCCC reference, missense
rs34213756 - 7,576,546(-) TCCCA(C/T)GCATG reference, missense
rs10795551 - 7,563,138(+) GATGG(A/G)ATGCC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ITIH5 Gene

Variant ID Type Subtype PubMed ID
dgv221e1 CNV Complex 17122850
essv6532 CNV CNV 17122850
esv2732273 CNV Deletion 23290073
nsv894850 CNV Loss 21882294
esv21953 CNV Loss 19812545
nsv5743 CNV Insertion 18451855
esv2732284 CNV Deletion 23290073
esv1076235 CNV Insertion 17803354
esv2732295 CNV Deletion 23290073
esv993971 CNV Deletion 20482838
esv2732306 CNV Deletion 23290073
esv2732317 CNV Deletion 23290073
esv1437774 CNV Deletion 17803354
nsv518197 CNV Loss 19592680
nsv521675 CNV Loss 19592680
esv2669658 CNV Deletion 23128226
esv1540875 CNV Insertion 17803354
esv2732328 CNV Deletion 23290073
esv2677970 CNV Deletion 23128226
esv2732339 CNV Deletion 23290073
esv2732350 CNV Deletion 23290073
esv22058 CNV Loss 19812545

Variation tolerance for ITIH5 Gene

Gene Damage Index Score: 6.14; 75.66% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for ITIH5 Gene

Disorders for ITIH5 Gene

Relevant External Links for ITIH5

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

No disorders were found for ITIH5 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ITIH5 Gene

Publications for ITIH5 Gene

  1. ITIH5, a novel member of the inter-alpha-trypsin inhibitor heavy chain family is downregulated in breast cancer. (PMID: 14744536) Himmelfarb M. … Dahl E. (Cancer Lett. 2004) 2 3 4 23 67
  2. Systematic identification of molecular links between core and candidate genes in breast cancer. (PMID: 25640309) Arroyo R. … Aloy P. (J. Mol. Biol. 2015) 3
  3. Epigenetic inactivation of ITIH5 promotes bladder cancer progression and predicts early relapse of pT1 high-grade urothelial tumours. (PMID: 24265292) Rose M. … Dahl E. (Carcinogenesis 2014) 3
  4. Decreased ITIH5 expression is associated with poor prognosis in primary gastric cancer. (PMID: 24913813) Mai C. … Zhou Z.W. (Med. Oncol. 2014) 3
  5. Epigenetic inactivation of the novel candidate tumor suppressor gene ITIH5 in colon cancer predicts unfavorable overall survival in the CpG island methylator phenotype. (PMID: 25093535) Kloten V. … Dahl E. (Epigenetics 2014) 3

Products for ITIH5 Gene

Sources for ITIH5 Gene