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ITIH3 (inter-alpha-trypsin inhibitor heavy chain 3)

Identity

Alias_namesinter-alpha (globulin) inhibitor, H3 polypeptide
inter-alpha (globulin) inhibitor H3
Alias_symbol (synonym)H3P
Other aliasITI-HC3
SHAP
HGNC (Hugo) ITIH3
LocusID (NCBI) 3699
Atlas_Id 43827
Location 3p21.1  [Link to chromosome band 3p21]
Location_base_pair Starts at 52828784 and ends at 52843025 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ITIH3 (3p21.1) / SPTLC1 (9q22.31)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)ITIH3   6168
Cards
Entrez_Gene (NCBI)ITIH3  3699  inter-alpha-trypsin inhibitor heavy chain 3
AliasesH3P; ITI-HC3; SHAP
GeneCards (Weizmann)ITIH3
Ensembl hg19 (Hinxton)ENSG00000162267 [Gene_View]  chr3:52828784-52843025 [Contig_View]  ITIH3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000162267 [Gene_View]  chr3:52828784-52843025 [Contig_View]  ITIH3 [Vega]
ICGC DataPortalENSG00000162267
TCGA cBioPortalITIH3
AceView (NCBI)ITIH3
Genatlas (Paris)ITIH3
WikiGenes3699
SOURCE (Princeton)ITIH3
Genetics Home Reference (NIH)ITIH3
Genomic and cartography
GoldenPath hg19 (UCSC)ITIH3  -     chr3:52828784-52843025 +  3p21.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ITIH3  -     3p21.1   [Description]    (hg38-Dec_2013)
EnsemblITIH3 - 3p21.1 [CytoView hg19]  ITIH3 - 3p21.1 [CytoView hg38]
Mapping of homologs : NCBIITIH3 [Mapview hg19]  ITIH3 [Mapview hg38]
OMIM146650   
Gene and transcription
Genbank (Entrez)AI683095 AK122858 AK222757 AK223483 AK298450
RefSeq transcript (Entrez)NM_002217
RefSeq genomic (Entrez)NC_000003 NC_018914 NT_022517 NW_004929309
Consensus coding sequences : CCDS (NCBI)ITIH3
Cluster EST : UnigeneHs.76716 [ NCBI ]
CGAP (NCI)Hs.76716
Alternative Splicing GalleryENSG00000162267
Gene ExpressionITIH3 [ NCBI-GEO ]   ITIH3 [ EBI - ARRAY_EXPRESS ]   ITIH3 [ SEEK ]   ITIH3 [ MEM ]
Gene Expression Viewer (FireBrowse)ITIH3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3699
GTEX Portal (Tissue expression)ITIH3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ06033   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ06033  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ06033
Splice isoforms : SwissVarQ06033
PhosPhoSitePlusQ06033
Domaine pattern : Prosite (Expaxy)VIT (PS51468)    VWFA (PS50234)   
Domains : Interpro (EBI)ITI_HC_C    VIT    VWF_A   
Domain families : Pfam (Sanger)ITI_HC_C (PF06668)    VIT (PF08487)    VWA (PF00092)   
Domain families : Pfam (NCBI)pfam06668    pfam08487    pfam00092   
Domain families : Smart (EMBL)VIT (SM00609)  VWA (SM00327)  
Conserved Domain (NCBI)ITIH3
DMDM Disease mutations3699
Blocks (Seattle)ITIH3
SuperfamilyQ06033
Human Protein AtlasENSG00000162267
Peptide AtlasQ06033
HPRD00891
IPIIPI00028413   IPI00876950   IPI00873416   IPI00953573   IPI01015883   IPI00909807   
Protein Interaction databases
DIP (DOE-UCLA)Q06033
IntAct (EBI)Q06033
FunCoupENSG00000162267
BioGRIDITIH3
STRING (EMBL)ITIH3
ZODIACITIH3
Ontologies - Pathways
QuickGOQ06033
Ontology : AmiGOplatelet degranulation  endopeptidase inhibitor activity  serine-type endopeptidase inhibitor activity  extracellular region  extracellular region  negative regulation of endopeptidase activity  negative regulation of endopeptidase activity  hyaluronan metabolic process  platelet dense granule lumen  extracellular exosome  
Ontology : EGO-EBIplatelet degranulation  endopeptidase inhibitor activity  serine-type endopeptidase inhibitor activity  extracellular region  extracellular region  negative regulation of endopeptidase activity  negative regulation of endopeptidase activity  hyaluronan metabolic process  platelet dense granule lumen  extracellular exosome  
NDEx NetworkITIH3
Atlas of Cancer Signalling NetworkITIH3
Wikipedia pathwaysITIH3
Orthology - Evolution
OrthoDB3699
GeneTree (enSembl)ENSG00000162267
Phylogenetic Trees/Animal Genes : TreeFamITIH3
HOVERGENQ06033
HOGENOMQ06033
Homologs : HomoloGeneITIH3
Homology/Alignments : Family Browser (UCSC)ITIH3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerITIH3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ITIH3
dbVarITIH3
ClinVarITIH3
1000_GenomesITIH3 
Exome Variant ServerITIH3
ExAC (Exome Aggregation Consortium)ITIH3 (select the gene name)
Genetic variants : HAPMAP3699
Genomic Variants (DGV)ITIH3 [DGVbeta]
DECIPHER (Syndromes)3:52828784-52843025  ENSG00000162267
CONAN: Copy Number AnalysisITIH3 
Mutations
ICGC Data PortalITIH3 
TCGA Data PortalITIH3 
Broad Tumor PortalITIH3
OASIS PortalITIH3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICITIH3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDITIH3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ITIH3
DgiDB (Drug Gene Interaction Database)ITIH3
DoCM (Curated mutations)ITIH3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ITIH3 (select a term)
intoGenITIH3
Cancer3DITIH3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM146650   
Orphanet
MedgenITIH3
Genetic Testing Registry ITIH3
NextProtQ06033 [Medical]
TSGene3699
GENETestsITIH3
Huge Navigator ITIH3 [HugePedia]
snp3D : Map Gene to Disease3699
BioCentury BCIQITIH3
ClinGenITIH3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3699
Chemical/Pharm GKB GenePA29966
Clinical trialITIH3
Miscellaneous
canSAR (ICR)ITIH3 (select the gene name)
Probes
Litterature
PubMed39 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineITIH3
EVEXITIH3
GoPubMedITIH3
iHOPITIH3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:05:37 CEST 2017

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