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

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3700
Gene nameGene Name - the full gene name approved by the HGNC.
Inter-alpha-trypsin inhibitor heavy chain 4
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ITIH4
SynonymsGene synonyms aliases
GP120, H4P, IHRP, ITI-HC4, ITIHL1, PK-120, PK120
ChromosomeChromosome number
3
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p21.1
SummarySummary of gene provided in NCBI Entrez 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
miRNAmiRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002576 Process Platelet degranulation TAS
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 NAS 14718574
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID 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
Sequence
MKPPRPVRTCSKVLVLLSLLAIHQTTTAEKNGIDIYSLTVDSRVSSRFAHTVVTSRVVNR
ANTVQEATFQMELPKKAFITNFSMIIDGMTYPGIIKEKAEAQAQYSAAVAKGKSAGLVKA
TGRNMEQFQVSVSVAPNAKITFELVY
EELLKRRLGVYELLLKVRPQQLVKHLQMDIHIFE
PQGISFLETESTFMTNQLVDALTTWQNKTKAHIRFKPTLSQQQKSPEQQETVLDGNLIIR
YDVDRAISGGSIQIENGYFVHYFAPEGLTTMPKNVVFVIDKSGSMSGRKIQQTREALIKI
LDDLSPRDQFNLIVFSTEATQWRPSLVPASAENVNKARSFAAGIQALGGTNINDAMLMAV
QLLDSSNQEERLPEGSVSLIILLTDGDPTVGETNPRSIQNNVREAVSGRYSLFCLGFGFD
VSYAFLEKLALDNGGLARRIHEDSDSALQLQDFYQE
VANPLLTAVTFEYPSNAVEEVTQN
NFRLLFKGSEMVVAGKLQDRGPDVLTATVSGKLPTQNITFQTESSVAEQEAEFQSPKYIF
HNFMERLWAYLTIQQLLEQTVSASDADQQALRNQALNLSLAYSFVTPLTSMVVTKPDDQE
QSQVAEKPMEGESRNRNVHSGSTFFKYYLQGAKIPKPEASFSPRRGWNRQAGAAGSRMNF
RPGVLSSRQLGLPGPPDVPDHAAYHPFRRLAILPASAPPATSNPDPAVSRVMNMKIEETT
MTTQTPAPIQAPSAILPLPGQSVERLCVDPRHRQGPVNLLSDPEQGVEVTGQYEREKAGF
SWIEVTFKNPLVWVHASPEHVVVTRNRRSSAYKWKETLFSVMPGLKMTMDKTGLLLLSDP
DKVTIGLLFWDGRGEGLRLLLRDTDRFSSHVGGTLGQFYQEVLWGSPAASDDGRRTLRVQ
GNDHSATRERRLDYQEGPPGVEISCWSVEL
Sequence length 930
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Platelet degranulation
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Colonic neoplasms Malignant tumor of colon, Colonic Neoplasms rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483 25200834
Multiple polyposis syndrome Adenomatous Polyposis Coli, Polyposis, Adenomatous Intestinal, Familial Intestinal Polyposis rs137854568, rs137854569, rs387906231, rs137854574, rs137854575, rs387906234, rs587776520, rs1801155, rs387906236, rs137854580, rs387906239, rs397515732, rs397515733, rs397515734, rs397515735, rs587779352, rs587779353, rs398123118, rs587779780, rs587779783, rs587779794, rs62619935, rs587781330, rs587781392, rs587781694, rs587782557, rs587783035, rs727504420, rs376213437, rs730882135, rs786201291, rs786201856, rs775126020, rs768922431, rs121913332, rs863225362, rs863225365, rs863225371, rs863225319, rs863225347, rs756912930, rs876659517, rs754122018, rs876659280, rs121913331, rs758987855, rs863224281, rs879254032, rs879254283, rs886039507, rs1060503323, rs1060503366, rs1064793020, rs1064793535, rs1114167545, rs1114167551, rs1114167571, rs1554071602, rs1554072560, rs1554074738, rs1554079988, rs1554081906, rs1554084508, rs1554085102, rs1554085307, rs1554085382, rs1554085817, rs1060503288, rs1392778905, rs1554086084, rs1554086134, rs1554086138, rs1554087515, rs774847203, rs1554084454, rs1114167599, rs1554086340, rs1554084403, rs1554085084, rs777848503, rs1554086262, rs1554083981, rs1554084650, rs1064794163, rs1554086923, rs1554086823, rs1554085303, rs1554084159, rs1554081749, rs1554084512, rs1561576666, rs1561545947, rs1561588017, rs1561589459, rs1561598017, rs1561569606, rs1580685528, rs1580634573, rs1580649018, rs1561597691, rs79630786 25200834
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 21926974
Unknown
Disease name Disease term dbSNP ID References
Bipolar disorder Bipolar Disorder 21926972, 21926974, 25136889
Depressed bipolar disorder Depressed bipolar I disorder 31043756

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