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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 (Globulin) Inhibitor H5 2 3
  • ITI Heavy Chain H5 3 4
  • ITI-HC5 3 4
  • Inter-Alpha-Trypsin Inhibitor Heavy Chain Family, Member 5 2
  • Inter-Alpha-Trypsin Inhibitor Heavy Chain H5 3
  • Inter-Alpha-Inhibitor Heavy Chain 5 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. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is ITIH6.

UniProtKB/Swiss-Prot for ITIH5 Gene

  • May act as a tumor suppressor.

Additional gene information for ITIH5 Gene

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

Genomics for ITIH5 Gene

GeneHancer (GH) Regulatory Elements for ITIH5 Gene

Promoters and enhancers for ITIH5 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
GH10I007665 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 563.7 +0.2 237 2.9 KLF1 ZNF449 ZFP64 BACH1 ZIC2 RAD21 ZNF7 ZNF335 ZNF121 ZFHX2 ITIH5 ATP5F1C GC10M007594
GH10I007619 Promoter/Enhancer 1 EPDnew dbSUPER 550.2 +47.3 47305 0.1 SP1 L3MBTL2 SMARCA4 MGA ITIH5 LOC105376390 GC10M007594
GH10I007560 Enhancer 0.9 Ensembl ENCODE dbSUPER 15.9 +104.3 104321 3.9 SKI NFIL3 TFAP4 POLR2A HLF RAD21 ZBTB17 ITIH5 LOC105376390 GC10P007544 GC10P007578
GH10I007608 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.9 +56.7 56711 2.8 HDAC1 PKNOX1 ZBTB40 ATF7 SMARCA5 CEBPB HDAC8 MEF2D ATF4 IKZF1 KIN ITIH5 GC10M007594
GH10I007538 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.8 +125.8 125825 5 ATF1 FOXA2 ARID4B ZNF48 RAD21 ZNF766 SCRT2 ATF7 THAP11 MIXL1 LOC105376391 ITIH5 LOC105376390
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ITIH5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ITIH5 gene promoter:

Genomic Locations for ITIH5 Gene

Genomic Locations for ITIH5 Gene
chr10:7,559,270-7,666,998
(GRCh38/hg38)
Size:
107,729 bases
Orientation:
Minus strand
chr10:7,601,232-7,708,961
(GRCh37/hg19)

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:
    Q86UX2-ITIH5_HUMAN
    Recommended name:
    Inter-alpha-trypsin inhibitor heavy chain H5
    Protein Accession:
    Q86UX2
    Secondary Accessions:
    • Q5T664
    • Q5T665
    • Q5T666
    • Q6AI60
    • Q6UXB7
    • Q8TF48
    • Q8WYV2
    • Q96K70

    Protein attributes for ITIH5 Gene

    Size:
    942 amino acids
    Molecular mass:
    104576 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for ITIH5 Gene

Post-translational modifications for ITIH5 Gene

  • Glycosylation at posLast=9797, isoforms=2127, posLast=231231, isoforms=2, 3421, posLast=508508, posLast=776776, posLast=795795, and isoforms=3862
  • 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

Gene Families for ITIH5 Gene

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

Suggested Antigen Peptide Sequences for ITIH5 Gene

Graphical View of Domain Structure for InterPro Entry

Q86UX2

UniProtKB/Swiss-Prot:

ITIH5_HUMAN :
  • Belongs to the ITIH family.
Family:
  • Belongs to the ITIH family.
genes like me logo Genes that share domains with ITIH5: view

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.

Phenotypes From GWAS Catalog for ITIH5 Gene

Gene Ontology (GO) - Molecular Function for ITIH5 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 ITIH5: view
genes like me logo Genes that share phenotypes with ITIH5: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ITIH5

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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

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 ITIH5 gene
Compartment Confidence
extracellular 4
plasma membrane 2
endoplasmic reticulum 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ITIH5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with ITIH5: view

Pathways & Interactions for ITIH5 Gene

SuperPathways for ITIH5 Gene

No Data Available

Interacting Proteins for ITIH5 Gene

Selected Interacting proteins: Q86UX2-ITIH5_HUMAN for ITIH5 Gene via IID

Gene Ontology (GO) - Biological Process for ITIH5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010951 negative regulation of endopeptidase activity IEA --
GO:0030212 hyaluronan metabolic process IEA --
genes like me logo Genes that share ontologies with ITIH5: view

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:

Clone Products

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: - -
SP4:
SP5:

Relevant External Links for ITIH5 Gene

GeneLoc Exon Structure for
ITIH5
ECgene alternative splicing isoforms for
ITIH5

Expression for ITIH5 Gene

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



NURSA nuclear receptor signaling pathways regulating expression of ITIH5 Gene:

ITIH5

SOURCE GeneReport for Unigene cluster for ITIH5 Gene:

Hs.498586

mRNA Expression by UniProt/SwissProt for ITIH5 Gene:

Q86UX2-ITIH5_HUMAN
Tissue specificity: Abundantly expressed in placenta. Less abundant expression in mammary gland and ovary. Expression is barely detectable levels in all other tissues tested.

Evidence on tissue expression from TISSUES for ITIH5 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with ITIH5: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia ITIH5 33 34
  • 98.9 (n)
cow
(Bos Taurus)
Mammalia ITIH5 33 34
  • 82.6 (n)
dog
(Canis familiaris)
Mammalia ITIH5 33 34
  • 81.91 (n)
mouse
(Mus musculus)
Mammalia Itih5 33 16 34
  • 80.94 (n)
oppossum
(Monodelphis domestica)
Mammalia ITIH5 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ITIH5 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves ITIH5 33 34
  • 68.34 (n)
lizard
(Anolis carolinensis)
Reptilia ITIH5 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia itih5 33
  • 62.44 (n)
Str.11873 33
zebrafish
(Danio rerio)
Actinopterygii itih5 33 34
  • 58.94 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 24 (a)
OneToOne
Species where no ortholog for ITIH5 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)
  • 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

ENSEMBL:
Gene Tree for ITIH5 (if available)
TreeFam:
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 Variation AA Info Type
rs193920741 uncertain-significance, Malignant tumor of prostate 7,563,367(-) C/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1000059143 -- 7,648,329(-) A/T genic_upstream_transcript_variant, intron_variant
rs1000067676 -- 7,666,890(-) C/G/T genic_upstream_transcript_variant, initiator_codon_variant, missense_variant
rs1000072706 -- 7,642,374(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000073385 -- 7,584,439(-) G/A intron_variant

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

Variant ID Type Subtype PubMed ID
dgv356n106 CNV deletion 24896259
dgv952n54 CNV gain 21841781
dgv95e214 CNV gain 21293372
esv1076235 CNV insertion 17803354
esv1437774 CNV deletion 17803354
esv1540875 CNV insertion 17803354
esv21953 CNV loss 19812545
esv22058 CNV loss 19812545
esv2669658 CNV deletion 23128226
esv2677970 CNV deletion 23128226
esv2732273 CNV deletion 23290073
esv2732284 CNV deletion 23290073
esv2732295 CNV deletion 23290073
esv2732306 CNV deletion 23290073
esv2732317 CNV deletion 23290073
esv2732328 CNV deletion 23290073
esv2732339 CNV deletion 23290073
esv2732350 CNV deletion 23290073
esv2759732 CNV loss 17122850
esv2761569 CNV loss 21179565
esv3578604 CNV loss 25503493
esv993971 CNV deletion 20482838
nsv1038131 CNV gain 25217958
nsv1038398 CNV gain 25217958
nsv1077316 CNV duplication 25765185
nsv1110160 CNV duplication 24896259
nsv1111024 CNV tandem duplication 24896259
nsv1115387 CNV duplication 24896259
nsv1121452 CNV deletion 24896259
nsv1122487 CNV deletion 24896259
nsv1147953 CNV duplication 26484159
nsv1151288 CNV duplication 26484159
nsv473027 CNV novel sequence insertion 20440878
nsv518197 CNV loss 19592680
nsv521675 CNV loss 19592680
nsv549933 CNV gain 21841781
nsv549934 CNV loss 21841781
nsv5743 CNV insertion 18451855
nsv951246 CNV deletion 24416366

Variation tolerance for ITIH5 Gene

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

Additional Variant Information for ITIH5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ITIH5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITIH5 Gene

Disorders for ITIH5 Gene

Additional Disease Information for ITIH5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 letters 2004) 2 3 4 22 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 58

Products for ITIH5 Gene

Sources for ITIH5 Gene

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