ENSG00000055955


Homo sapiens

Features
Gene ID: ENSG00000055955
  
Biological name :ITIH4
  
Synonyms : inter-alpha-trypsin inhibitor heavy chain family member 4 / ITIH4 / Q14624
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: -1
Band: p21.1
Gene start: 52812975
Gene end: 52831479
  
Corresponding Affymetrix probe sets: 206287_s_at (Human Genome U133 Plus 2.0 Array)   241167_at (Human Genome U133 Plus 2.0 Array)   242720_at (Human Genome U133 Plus 2.0 Array)   37201_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000384425
Ensembl peptide - ENSP00000417824
Ensembl peptide - ENSP00000395634
Ensembl peptide - ENSP00000266041
NCBI entrez gene - 3700     See in Manteia.
OMIM - 600564
RefSeq - NM_001166449
RefSeq - NM_002218
RefSeq Peptide - NP_001159921
RefSeq Peptide - NP_002209
swissprot - Q14624
swissprot - H7C0L5
swissprot - B7ZKJ8
Ensembl - ENSG00000055955
  
Related genetic diseases (OMIM): 143890 - {Hypercholesterolemia, susceptibility to}, 143890
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 itih3bENSDARG00000102722Danio rerio
 zgc:112265ENSDARG00000100406Danio rerio
 Itih4ENSMUSG00000021922Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ITIH3 / Q06033 / inter-alpha-trypsin inhibitor heavy chain 3ENSG0000016226740
ITIH1 / P19827 / inter-alpha-trypsin inhibitor heavy chain 1ENSG0000005595733
ITIH2 / P19823 / inter-alpha-trypsin inhibitor heavy chain 2ENSG0000015165532
ITIH6 / Q6UXX5 / inter-alpha-trypsin inhibitor heavy chain family member 6ENSG0000010231331
ITIH5 / inter-alpha-trypsin inhibitor heavy chain family member 5ENSG0000012324322


Protein motifs (from Interpro)
Interpro ID Name
 IPR002035  von Willebrand factor, type A
 IPR010600  Inter-alpha-trypsin inhibitor heavy chain, C-terminal
 IPR013694  VIT domain
 IPR036465  von Willebrand factor A-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002576 platelet degranulation TAS
 biological_processGO:0006953 acute-phase response IEP
 biological_processGO:0010466 negative regulation of peptidase activity IEA
 biological_processGO:0010951 negative regulation of endopeptidase activity IEA
 biological_processGO:0030212 hyaluronan metabolic process IEA
 biological_processGO:0034097 response to cytokine IEP
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0031089 platelet dense granule lumen TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0072562 blood microparticle HDA
 molecular_functionGO:0004866 endopeptidase inhibitor activity TAS
 molecular_functionGO:0004867 serine-type endopeptidase inhibitor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0030414 peptidase inhibitor activity IEA


Pathways (from Reactome)
Pathway description
Platelet degranulation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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