ITIH4 (inter-alpha-trypsin inhibitor heavy chain 4)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3700
Gene name Inter-alpha-trypsin inhibitor heavy chain 4
Gene symbol ITIH4
Synonyms (NCBI Gene)
GP120H4PIHRPITI-HC4ITIHL1PK-120PK120
Chromosome 3
Chromosome location 3p21.1
Summary 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
miRNA miRNA information provided by mirtarbase database.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (24)
miRTarBase ID miRNA Experiments Reference
MIRT019901 hsa-miR-375 Microarray 20215506
MIRT1074360 hsa-miR-1269 CLIP-seq
MIRT1074361 hsa-miR-1269b CLIP-seq
MIRT1074362 hsa-miR-1288 CLIP-seq
MIRT1074363 hsa-miR-3179 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0004866 Function Endopeptidase inhibitor activity TAS 9756925
GO:0004867 Function Serine-type endopeptidase inhibitor activity IEA
GO:0005515 Function Protein binding IPI 16271702
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region NAS 14718574
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600564 6169 ENSG00000055955
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14624
Protein name Inter-alpha-trypsin inhibitor heavy chain H4 (ITI heavy chain H4) (ITI-HC4) (Inter-alpha-inhibitor heavy chain 4) (Inter-alpha-trypsin inhibitor family heavy chain-related protein) (IHRP) (Plasma kallikrein sensitive glycoprotein 120) (Gp120) (PK-120) [Cl
Protein function Type II acute-phase protein (APP) involved in inflammatory responses to trauma. May also play a role in liver development or regeneration.
PDB 9C4F , 9C4N
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08487 VIT 35 → 146 Vault protein inter-alpha-trypsin domain Family
PF00092 VWA 274 → 456 von Willebrand factor type A domain Domain
PF06668 ITI_HC_C 766 → 930 Inter-alpha-trypsin inhibitor heavy chain C-terminus Family
Tissue specificity TISSUE SPECIFICITY: Liver specific. {ECO:0000269|PubMed:7775381, ECO:0000269|PubMed:7805892}.
Sequence 
MKPPRPVRTCSKVLVLLSLLAIHQTTTAEKNGIDIYSLTVDSRVSSRFAHTVVTSRVVNR
ANTVQEATFQMELPKKAFITNFSMIIDGMTYPGIIKEKAEAQAQYSAAVAKGKSAGLVKA
TGRNMEQFQVSVSVAPNAKITFELVYEELLKRRLGVYELLLKVRPQQLVKHLQMDIHIFE
PQGISFLETESTFMTNQLVDALTTWQNKTKAHIRFKPTLSQQQKSPEQQETVLDGNLIIR
YDVDRAISGGSIQIENGYFVHYFAPEGLTTMPKNVVFVIDKSGSMSGRKIQQTREALIKI
LDDLSPRDQFNLIVFSTEATQWRPSLVPASAENVNKARSFAAGIQALGGTNINDAMLMAV
QLLDSSNQEERLPEGSVSLIILLTDGDPTVGETNPRSIQNNVREAVSGRYSLFCLGFGFD
VSYAFLEKLALDNGGLARRIHEDSDSALQLQDFYQEVANPLLTAVTFEYPSNAVEEVTQN
NFRLLFKGSEMVVAGKLQDRGPDVLTATVSGKLPTQNITFQTESSVAEQEAEFQSPKYIF
HNFMERLWAYLTIQQLLEQTVSASDADQQALRNQALNLSLAYSFVTPLTSMVVTKPDDQE
QSQVAEKPMEGESRNRNVHSGSTFFKYYLQGAKIPKPEASFSPRRGWNRQAGAAGSRMNF
RPGVLSSRQLGLPGPPDVPDHAAYHPFRRLAILPASAPPATSNPDPAVSRVMNMKIEETT
MTTQTPAPIQAPSAILPLPGQSVERLCVDPRHRQGPVNLLSDPEQGVEVTGQYEREKAGF
SWIEVTFKNPLVWVHASPEHVVVTRNRRSSAYKWKETLFSVMPGLKMTMDKTGLLLLSDP
DKVTIGLLFWDGRGEGLRLLLRDTDRFSSHVGGTLGQFYQEVLWGSPAASDDGRRTLRVQ
GNDHSATRERRLDYQEGPPGVEISCWSVEL
Sequence length 930
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Platelet degranulation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (8)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs2276814 RCV005937121
Cervical cancer Benign rs2276814 RCV005937124
Hepatocellular carcinoma Benign rs2276814 RCV005937122
Hypercholesterolemia, susceptibility to Benign rs3821831 RCV000009609
Show/Hide Text Mining Associations (82)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
3 Hydroxyacyl CoA Dehydrogenase Deficiency Associate 18329007
Acquired Immunodeficiency Syndrome Associate 1402655, 15331709, 17452490, 18524826, 7474108, 8764000
Acute Disease Associate 12186928
Adenocarcinoma of Lung Associate 33648465
AIDS Associated Nephropathy Associate 21756955, 29147885, 30158296
AIDS Dementia Complex Associate 18453587, 21175585, 21491143
Bipolar Disorder Associate 21926972, 24461634, 29947131
Brain Diseases Associate 10482626, 14691297
Breast Neoplasms Associate 21048319, 21871081, 25390939, 9729531
Carcinogenesis Associate 31481982