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ITIH1 (inter-alpha-trypsin inhibitor heavy chain 1)

Identity

Alias_namesinter-alpha (globulin) inhibitor
Alias_symbol (synonym)H1P
IATIH
ITIH
Other aliasIGHEP1
ITI-HC1
SHAP
HGNC (Hugo) ITIH1
LocusID (NCBI) 3697
Atlas_Id 46281
Location 3p21.1  [Link to chromosome band 3p21]
Location_base_pair Starts at 52778493 and ends at 52792068 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

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)ITIH1   6166
Cards
Entrez_Gene (NCBI)ITIH1  3697  inter-alpha-trypsin inhibitor heavy chain 1
AliasesH1P; IATIH; IGHEP1; ITI-HC1; 
ITIH; SHAP
GeneCards (Weizmann)ITIH1
Ensembl hg19 (Hinxton)ENSG00000055957 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000055957 [Gene_View]  chr3:52778493-52792068 [Contig_View]  ITIH1 [Vega]
ICGC DataPortalENSG00000055957
TCGA cBioPortalITIH1
AceView (NCBI)ITIH1
Genatlas (Paris)ITIH1
WikiGenes3697
SOURCE (Princeton)ITIH1
Genetics Home Reference (NIH)ITIH1
Genomic and cartography
GoldenPath hg38 (UCSC)ITIH1  -     chr3:52778493-52792068 +  3p21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ITIH1  -     3p21.1   [Description]    (hg19-Feb_2009)
EnsemblITIH1 - 3p21.1 [CytoView hg19]  ITIH1 - 3p21.1 [CytoView hg38]
Mapping of homologs : NCBIITIH1 [Mapview hg19]  ITIH1 [Mapview hg38]
OMIM147270   
Gene and transcription
Genbank (Entrez)AA897466 AF116713 AK292750 AK298398 AK298423
RefSeq transcript (Entrez)NM_001166434 NM_001166435 NM_001166436 NM_002215
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ITIH1
Cluster EST : UnigeneHs.420257 [ NCBI ]
CGAP (NCI)Hs.420257
Alternative Splicing GalleryENSG00000055957
Gene ExpressionITIH1 [ NCBI-GEO ]   ITIH1 [ EBI - ARRAY_EXPRESS ]   ITIH1 [ SEEK ]   ITIH1 [ MEM ]
Gene Expression Viewer (FireBrowse)ITIH1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3697
GTEX Portal (Tissue expression)ITIH1
Human Protein AtlasENSG00000055957-ITIH1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP19827   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP19827  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP19827
Splice isoforms : SwissVarP19827
PhosPhoSitePlusP19827
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)ITIH1
DMDM Disease mutations3697
Blocks (Seattle)ITIH1
SuperfamilyP19827
Human Protein Atlas [tissue]ENSG00000055957-ITIH1 [tissue]
Peptide AtlasP19827
HPRD00927
IPIIPI00292530   IPI01014157   IPI00383338   IPI00953675   IPI00877852   IPI00878397   IPI00945755   IPI00945924   
Protein Interaction databases
DIP (DOE-UCLA)P19827
IntAct (EBI)P19827
FunCoupENSG00000055957
BioGRIDITIH1
STRING (EMBL)ITIH1
ZODIACITIH1
Ontologies - Pathways
QuickGOP19827
Ontology : AmiGOserine-type endopeptidase inhibitor activity  calcium ion binding  extracellular region  negative regulation of endopeptidase activity  hyaluronan metabolic process  extracellular exosome  blood microparticle  
Ontology : EGO-EBIserine-type endopeptidase inhibitor activity  calcium ion binding  extracellular region  negative regulation of endopeptidase activity  hyaluronan metabolic process  extracellular exosome  blood microparticle  
NDEx NetworkITIH1
Atlas of Cancer Signalling NetworkITIH1
Wikipedia pathwaysITIH1
Orthology - Evolution
OrthoDB3697
GeneTree (enSembl)ENSG00000055957
Phylogenetic Trees/Animal Genes : TreeFamITIH1
HOVERGENP19827
HOGENOMP19827
Homologs : HomoloGeneITIH1
Homology/Alignments : Family Browser (UCSC)ITIH1
Gene fusions - Rearrangements
Tumor Fusion PortalITIH1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerITIH1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ITIH1
dbVarITIH1
ClinVarITIH1
1000_GenomesITIH1 
Exome Variant ServerITIH1
ExAC (Exome Aggregation Consortium)ENSG00000055957
GNOMAD BrowserENSG00000055957
Genetic variants : HAPMAP3697
Genomic Variants (DGV)ITIH1 [DGVbeta]
DECIPHERITIH1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisITIH1 
Mutations
ICGC Data PortalITIH1 
TCGA Data PortalITIH1 
Broad Tumor PortalITIH1
OASIS PortalITIH1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICITIH1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDITIH1
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 ITIH1
DgiDB (Drug Gene Interaction Database)ITIH1
DoCM (Curated mutations)ITIH1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ITIH1 (select a term)
intoGenITIH1
Cancer3DITIH1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM147270   
Orphanet
DisGeNETITIH1
MedgenITIH1
Genetic Testing Registry ITIH1
NextProtP19827 [Medical]
TSGene3697
GENETestsITIH1
Target ValidationITIH1
Huge Navigator ITIH1 [HugePedia]
snp3D : Map Gene to Disease3697
BioCentury BCIQITIH1
ClinGenITIH1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3697
Chemical/Pharm GKB GenePA29964
Clinical trialITIH1
Miscellaneous
canSAR (ICR)ITIH1 (select the gene name)
Probes
Litterature
PubMed48 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineITIH1
EVEXITIH1
GoPubMedITIH1
iHOPITIH1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:18:16 CET 2017

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