Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HIP1R (huntingtin interacting protein 1 related)

Identity

Alias_symbol (synonym)KIAA0655
HIP3
HIP12
FLJ14000
ILWEQ
Other alias
HGNC (Hugo) HIP1R
LocusID (NCBI) 9026
Atlas_Id 54361
Location 12q24.31  [Link to chromosome band 12q24]
Location_base_pair Starts at 122835438 and ends at 122857900 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
AVIL (12q14.1) / HIP1R (12q24.31)HIP1R (12q24.31) / HIP1R (12q24.31)JA040725 () / HIP1R (12q24.31)
NAGLU (17q21.2) / HIP1R (12q24.31)PAPOLA (14q32.2) / HIP1R (12q24.31)PTGDS (9q34.3) / HIP1R (12q24.31)
AVIL 12q14.1 / HIP1R 12q24.31

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)HIP1R   18415
Cards
Entrez_Gene (NCBI)HIP1R  9026  huntingtin interacting protein 1 related
AliasesHIP12; HIP3; ILWEQ
GeneCards (Weizmann)HIP1R
Ensembl hg19 (Hinxton)ENSG00000130787 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000130787 [Gene_View]  chr12:122835438-122857900 [Contig_View]  HIP1R [Vega]
ICGC DataPortalENSG00000130787
TCGA cBioPortalHIP1R
AceView (NCBI)HIP1R
Genatlas (Paris)HIP1R
WikiGenes9026
SOURCE (Princeton)HIP1R
Genetics Home Reference (NIH)HIP1R
Genomic and cartography
GoldenPath hg38 (UCSC)HIP1R  -     chr12:122835438-122857900 +  12q24.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HIP1R  -     12q24.31   [Description]    (hg19-Feb_2009)
EnsemblHIP1R - 12q24.31 [CytoView hg19]  HIP1R - 12q24.31 [CytoView hg38]
Mapping of homologs : NCBIHIP1R [Mapview hg19]  HIP1R [Mapview hg38]
OMIM605613   
Gene and transcription
Genbank (Entrez)AB013384 AB014555 AK024062 AK090537 AK295389
RefSeq transcript (Entrez)NM_001303097 NM_001303099 NM_003959
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HIP1R
Cluster EST : UnigeneHs.714965 [ NCBI ]
CGAP (NCI)Hs.714965
Alternative Splicing GalleryENSG00000130787
Gene ExpressionHIP1R [ NCBI-GEO ]   HIP1R [ EBI - ARRAY_EXPRESS ]   HIP1R [ SEEK ]   HIP1R [ MEM ]
Gene Expression Viewer (FireBrowse)HIP1R [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9026
GTEX Portal (Tissue expression)HIP1R
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75146   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75146  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75146
Splice isoforms : SwissVarO75146
PhosPhoSitePlusO75146
Domaine pattern : Prosite (Expaxy)ENTH (PS50942)    I_LWEQ (PS50945)   
Domains : Interpro (EBI)ANTH_dom    ENTH    ENTH_VHS    HIP1_clath-bd    HIP1R    ILWEQ_dom    Sla2_fam   
Domain families : Pfam (Sanger)ANTH (PF07651)    HIP1_clath_bdg (PF16515)    I_LWEQ (PF01608)   
Domain families : Pfam (NCBI)pfam07651    pfam16515    pfam01608   
Domain families : Smart (EMBL)ENTH (SM00273)  ILWEQ (SM00307)  
Domain structure : Prodom (Prabi Lyon)ILWEQ (PD011820)   
Conserved Domain (NCBI)HIP1R
DMDM Disease mutations9026
Blocks (Seattle)HIP1R
PDB (SRS)1R0D   
PDB (PDBSum)1R0D   
PDB (IMB)1R0D   
PDB (RSDB)1R0D   
Structural Biology KnowledgeBase1R0D   
SCOP (Structural Classification of Proteins)1R0D   
CATH (Classification of proteins structures)1R0D   
SuperfamilyO75146
Human Protein AtlasENSG00000130787
Peptide AtlasO75146
HPRD10412
IPIIPI00024417   IPI00442547   IPI01015972   
Protein Interaction databases
DIP (DOE-UCLA)O75146
IntAct (EBI)O75146
FunCoupENSG00000130787
BioGRIDHIP1R
STRING (EMBL)HIP1R
ZODIACHIP1R
Ontologies - Pathways
QuickGOO75146
Ontology : AmiGOprotein binding  phosphatidylinositol-4,5-bisphosphate binding  phosphatidylinositol-3,4,5-trisphosphate binding  mitochondrion  cytosol  cytosol  cytoskeleton  clathrin-coated pit  cell cortex  receptor-mediated endocytosis  apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  postsynaptic density  apical plasma membrane  SH3 domain binding  regulation of endocytosis  regulation of endocytosis  clathrin-coated vesicle  clathrin binding  clathrin-coated vesicle membrane  negative regulation of actin filament polymerization  clathrin light chain binding  positive regulation of protein binding  ruffle membrane  dendrite cytoplasm  regulation of actin cytoskeleton organization  negative regulation of Arp2/3 complex-mediated actin nucleation  phosphatidylinositol binding  clathrin adaptor activity  protein homodimerization activity  neuronal cell body  positive regulation of apoptotic process  negative regulation of apoptotic process  dendritic spine  intracellular membrane-bounded organelle  phosphatidylinositol-3,4-bisphosphate binding  positive regulation of epidermal growth factor receptor signaling pathway  protein heterodimerization activity  clathrin coat assembly  perinuclear region of cytoplasm  protein stabilization  actin filament binding  digestive system development  regulation of gastric acid secretion  membrane organization  clathrin-dependent endocytosis  phosphatidylinositol-3,5-bisphosphate binding  synaptic membrane  positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway  positive regulation of clathrin coat assembly  regulation of clathrin-dependent endocytosis  positive regulation of platelet-derived growth factor receptor-beta signaling pathway  
Ontology : EGO-EBIprotein binding  phosphatidylinositol-4,5-bisphosphate binding  phosphatidylinositol-3,4,5-trisphosphate binding  mitochondrion  cytosol  cytosol  cytoskeleton  clathrin-coated pit  cell cortex  receptor-mediated endocytosis  apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  postsynaptic density  apical plasma membrane  SH3 domain binding  regulation of endocytosis  regulation of endocytosis  clathrin-coated vesicle  clathrin binding  clathrin-coated vesicle membrane  negative regulation of actin filament polymerization  clathrin light chain binding  positive regulation of protein binding  ruffle membrane  dendrite cytoplasm  regulation of actin cytoskeleton organization  negative regulation of Arp2/3 complex-mediated actin nucleation  phosphatidylinositol binding  clathrin adaptor activity  protein homodimerization activity  neuronal cell body  positive regulation of apoptotic process  negative regulation of apoptotic process  dendritic spine  intracellular membrane-bounded organelle  phosphatidylinositol-3,4-bisphosphate binding  positive regulation of epidermal growth factor receptor signaling pathway  protein heterodimerization activity  clathrin coat assembly  perinuclear region of cytoplasm  protein stabilization  actin filament binding  digestive system development  regulation of gastric acid secretion  membrane organization  clathrin-dependent endocytosis  phosphatidylinositol-3,5-bisphosphate binding  synaptic membrane  positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway  positive regulation of clathrin coat assembly  regulation of clathrin-dependent endocytosis  positive regulation of platelet-derived growth factor receptor-beta signaling pathway  
NDEx NetworkHIP1R
Atlas of Cancer Signalling NetworkHIP1R
Wikipedia pathwaysHIP1R
Orthology - Evolution
OrthoDB9026
GeneTree (enSembl)ENSG00000130787
Phylogenetic Trees/Animal Genes : TreeFamHIP1R
HOVERGENO75146
HOGENOMO75146
Homologs : HomoloGeneHIP1R
Homology/Alignments : Family Browser (UCSC)HIP1R
Gene fusions - Rearrangements
Fusion : MitelmanAVIL/HIP1R [12q14.1/12q24.31]  [t(12;12)(q14;q24)]  
Fusion : MitelmanPAPOLA/HIP1R [14q32.2/12q24.31]  [t(12;14)(q24;q32)]  
Fusion: TCGAAVIL 12q14.1 HIP1R 12q24.31 GBM
Fusion Cancer (Beijing)JA040725 [HIP1R]  -  12q24.31 [FUSC001185]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHIP1R [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HIP1R
dbVarHIP1R
ClinVarHIP1R
1000_GenomesHIP1R 
Exome Variant ServerHIP1R
ExAC (Exome Aggregation Consortium)HIP1R (select the gene name)
Genetic variants : HAPMAP9026
Genomic Variants (DGV)HIP1R [DGVbeta]
DECIPHERHIP1R [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHIP1R 
Mutations
ICGC Data PortalHIP1R 
TCGA Data PortalHIP1R 
Broad Tumor PortalHIP1R
OASIS PortalHIP1R [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHIP1R  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHIP1R
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 HIP1R
DgiDB (Drug Gene Interaction Database)HIP1R
DoCM (Curated mutations)HIP1R (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HIP1R (select a term)
intoGenHIP1R
Cancer3DHIP1R(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605613   
Orphanet
MedgenHIP1R
Genetic Testing Registry HIP1R
NextProtO75146 [Medical]
TSGene9026
GENETestsHIP1R
Target ValidationHIP1R
Huge Navigator HIP1R [HugePedia]
snp3D : Map Gene to Disease9026
BioCentury BCIQHIP1R
ClinGenHIP1R
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9026
Chemical/Pharm GKB GenePA128394543
Clinical trialHIP1R
Miscellaneous
canSAR (ICR)HIP1R (select the gene name)
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHIP1R
EVEXHIP1R
GoPubMedHIP1R
iHOPHIP1R
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:36:48 CEST 2017

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