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ITIH5 (inter-alpha-trypsin inhibitor heavy chain 5)

Identity

Alias (NCBI)ITI-HC5
PP14776
HGNC (Hugo) ITIH5
HGNC Alias symbMGC10848
HGNC Previous nameinter-alpha (globulin) inhibitor H5
 inter-alpha-trypsin inhibitor heavy chain family, member 5
LocusID (NCBI) 80760
Atlas_Id 43692
Location 10p14  [Link to chromosome band 10p14]
Location_base_pair Starts at 7559270 and ends at 7619673 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)
ITIH5 (10p14) / ITIH5 (10p14)ITIH5 (10p14) / PELP1 (17p13.2)

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)ITIH5   21449
Cards
Entrez_Gene (NCBI)ITIH5    inter-alpha-trypsin inhibitor heavy chain 5
AliasesITI-HC5; PP14776
GeneCards (Weizmann)ITIH5
Ensembl hg19 (Hinxton)ENSG00000123243 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000123243 [Gene_View]  ENSG00000123243 [Sequence]  chr10:7559270-7619673 [Contig_View]  ITIH5 [Vega]
ICGC DataPortalENSG00000123243
TCGA cBioPortalITIH5
AceView (NCBI)ITIH5
Genatlas (Paris)ITIH5
SOURCE (Princeton)ITIH5
Genetics Home Reference (NIH)ITIH5
Genomic and cartography
GoldenPath hg38 (UCSC)ITIH5  -     chr10:7559270-7619673 -  10p14   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ITIH5  -     10p14   [Description]    (hg19-Feb_2009)
GoldenPathITIH5 - 10p14 [CytoView hg19]  ITIH5 - 10p14 [CytoView hg38]
ImmunoBaseENSG00000123243
Genome Data Viewer NCBIITIH5 [Mapview hg19]  
OMIM609783   
Gene and transcription
Genbank (Entrez)AB075833 AF318347 AK027375 AK027547 AK027831
RefSeq transcript (Entrez)NM_001001851 NM_030569 NM_032817
Consensus coding sequences : CCDS (NCBI)ITIH5
Gene ExpressionITIH5 [ NCBI-GEO ]   ITIH5 [ EBI - ARRAY_EXPRESS ]   ITIH5 [ SEEK ]   ITIH5 [ MEM ]
Gene Expression Viewer (FireBrowse)ITIH5 [ Firebrowse - Broad ]
GenevisibleExpression of ITIH5 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80760
GTEX Portal (Tissue expression)ITIH5
Human Protein AtlasENSG00000123243-ITIH5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86UX2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86UX2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86UX2
PhosPhoSitePlusQ86UX2
Domaine pattern : Prosite (Expaxy)VIT (PS51468)    VWFA (PS50234)   
Domains : Interpro (EBI)ITI_HC_C    VIT    VWF_A    vWFA_dom_sf   
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)ITIH5
SuperfamilyQ86UX2
AlphaFold pdb e-kbQ86UX2   
Human Protein Atlas [tissue]ENSG00000123243-ITIH5 [tissue]
HPRD07865
Protein Interaction databases
DIP (DOE-UCLA)Q86UX2
IntAct (EBI)Q86UX2
BioGRIDITIH5
STRING (EMBL)ITIH5
ZODIACITIH5
Ontologies - Pathways
QuickGOQ86UX2
Ontology : AmiGOserine-type endopeptidase inhibitor activity  extracellular region  negative regulation of endopeptidase activity  hyaluronan metabolic process  collagen-containing extracellular matrix  
Ontology : EGO-EBIserine-type endopeptidase inhibitor activity  extracellular region  negative regulation of endopeptidase activity  hyaluronan metabolic process  collagen-containing extracellular matrix  
NDEx NetworkITIH5
Atlas of Cancer Signalling NetworkITIH5
Wikipedia pathwaysITIH5
Orthology - Evolution
OrthoDB80760
GeneTree (enSembl)ENSG00000123243
Phylogenetic Trees/Animal Genes : TreeFamITIH5
Homologs : HomoloGeneITIH5
Homology/Alignments : Family Browser (UCSC)ITIH5
Gene fusions - Rearrangements
Fusion : QuiverITIH5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerITIH5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ITIH5
dbVarITIH5
ClinVarITIH5
MonarchITIH5
1000_GenomesITIH5 
Exome Variant ServerITIH5
GNOMAD BrowserENSG00000123243
Varsome BrowserITIH5
ACMGITIH5 variants
VarityQ86UX2
Genomic Variants (DGV)ITIH5 [DGVbeta]
DECIPHERITIH5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisITIH5 
Mutations
ICGC Data PortalITIH5 
TCGA Data PortalITIH5 
Broad Tumor PortalITIH5
OASIS PortalITIH5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICITIH5  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DITIH5
Mutations and Diseases : HGMDITIH5
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaITIH5
DgiDB (Drug Gene Interaction Database)ITIH5
DoCM (Curated mutations)ITIH5
CIViC (Clinical Interpretations of Variants in Cancer)ITIH5
Cancer3DITIH5
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609783   
Orphanet
DisGeNETITIH5
MedgenITIH5
Genetic Testing Registry ITIH5
NextProtQ86UX2 [Medical]
GENETestsITIH5
Target ValidationITIH5
Huge Navigator ITIH5 [HugePedia]
ClinGenITIH5
Clinical trials, drugs, therapy
MyCancerGenomeITIH5
Protein Interactions : CTDITIH5
Pharm GKB GenePA134899668
PharosQ86UX2
Clinical trialITIH5
Miscellaneous
canSAR (ICR)ITIH5
HarmonizomeITIH5
DataMed IndexITIH5
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXITIH5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:14:23 CEST 2021

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