Atlas of Genetics and Cytogenetics in Oncology and Haematology


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GIPC1 (GIPC PDZ domain containing family member 1)

Identity

Alias_namesC19orf3
RGS19IP1
chromosome 19 open reading frame 3
regulator of G-protein signalling 19 interacting protein 1
GIPC PDZ domain containing family, member 1
Alias_symbol (synonym)TIP-2
Hs.6454
GIPC
SEMCAP
GLUT1CBP
SYNECTIN
NIP
Other aliasIIP-1
SYNECTIIN
HGNC (Hugo) GIPC1
LocusID (NCBI) 10755
Atlas_Id 46448
Location 19p13.12  [Link to chromosome band 19p13]
Location_base_pair Starts at 14477759 and ends at 14496149 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)
GIPC1 (19p13.12) / ADAM12 (10q26.2)GIPC1 (19p13.12) / ANKZF1 (2q35)GIPC1 (19p13.12) / PKN1 (19p13.12)
GIPC1 (19p13.12) / RAPGEF1 (9q34.13)GIPC1 (19p13.12) / UBL3 (13q12.3)ZNF100 (19p12) / GIPC1 (19p13.12)
GIPC1 19p13.12 / UBL3 13q12.3ZNF100 19p12 / GIPC1 19p13.12

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Small Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)GIPC1   1226
Cards
Entrez_Gene (NCBI)GIPC1  10755  GIPC PDZ domain containing family member 1
AliasesC19orf3; GIPC; GLUT1CBP; Hs.6454; 
IIP-1; NIP; RGS19IP1; SEMCAP; SYNECTIIN; SYNECTIN; TIP-2
GeneCards (Weizmann)GIPC1
Ensembl hg19 (Hinxton)ENSG00000123159 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000123159 [Gene_View]  chr19:14477759-14496149 [Contig_View]  GIPC1 [Vega]
ICGC DataPortalENSG00000123159
TCGA cBioPortalGIPC1
AceView (NCBI)GIPC1
Genatlas (Paris)GIPC1
WikiGenes10755
SOURCE (Princeton)GIPC1
Genetics Home Reference (NIH)GIPC1
Genomic and cartography
GoldenPath hg38 (UCSC)GIPC1  -     chr19:14477759-14496149 -  19p13.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GIPC1  -     19p13.12   [Description]    (hg19-Feb_2009)
EnsemblGIPC1 - 19p13.12 [CytoView hg19]  GIPC1 - 19p13.12 [CytoView hg38]
Mapping of homologs : NCBIGIPC1 [Mapview hg19]  GIPC1 [Mapview hg38]
OMIM605072   
Gene and transcription
Genbank (Entrez)AF028824 AF089816 AI589363 AK022585 AK093820
RefSeq transcript (Entrez)NM_005716 NM_202467 NM_202468 NM_202469 NM_202470 NM_202494
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GIPC1
Cluster EST : UnigeneHs.741240 [ NCBI ]
CGAP (NCI)Hs.741240
Alternative Splicing GalleryENSG00000123159
Gene ExpressionGIPC1 [ NCBI-GEO ]   GIPC1 [ EBI - ARRAY_EXPRESS ]   GIPC1 [ SEEK ]   GIPC1 [ MEM ]
Gene Expression Viewer (FireBrowse)GIPC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10755
GTEX Portal (Tissue expression)GIPC1
Human Protein AtlasENSG00000123159-GIPC1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14908   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO14908  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14908
Splice isoforms : SwissVarO14908
PhosPhoSitePlusO14908
Domaine pattern : Prosite (Expaxy)PDZ (PS50106)   
Domains : Interpro (EBI)GIPC1/2/3    PDZ   
Domain families : Pfam (Sanger)PDZ (PF00595)   
Domain families : Pfam (NCBI)pfam00595   
Domain families : Smart (EMBL)PDZ (SM00228)  
Conserved Domain (NCBI)GIPC1
DMDM Disease mutations10755
Blocks (Seattle)GIPC1
SuperfamilyO14908
Human Protein Atlas [tissue]ENSG00000123159-GIPC1 [tissue]
Peptide AtlasO14908
HPRD05462
IPIIPI00024705   IPI00401971   
Protein Interaction databases
DIP (DOE-UCLA)O14908
IntAct (EBI)O14908
FunCoupENSG00000123159
BioGRIDGIPC1
STRING (EMBL)GIPC1
ZODIACGIPC1
Ontologies - Pathways
QuickGOO14908
Ontology : AmiGOactin binding  receptor binding  protein binding  cytoplasm  cytosol  brush border  cell cortex  protein targeting  G-protein coupled receptor signaling pathway  chemical synaptic transmission  synaptic vesicle  vesicle membrane  glutamate secretion  membrane  membrane  myosin binding  endocytic vesicle  PDZ domain binding  positive regulation of transforming growth factor beta receptor signaling pathway  cytoplasmic vesicle  regulation of protein stability  negative regulation of proteasomal ubiquitin-dependent protein catabolic process  positive regulation of cytokinesis  protein homodimerization activity  dendritic spine  dendritic shaft  endothelial cell migration  cadherin binding  regulation of synaptic plasticity  extracellular exosome  
Ontology : EGO-EBIactin binding  receptor binding  protein binding  cytoplasm  cytosol  brush border  cell cortex  protein targeting  G-protein coupled receptor signaling pathway  chemical synaptic transmission  synaptic vesicle  vesicle membrane  glutamate secretion  membrane  membrane  myosin binding  endocytic vesicle  PDZ domain binding  positive regulation of transforming growth factor beta receptor signaling pathway  cytoplasmic vesicle  regulation of protein stability  negative regulation of proteasomal ubiquitin-dependent protein catabolic process  positive regulation of cytokinesis  protein homodimerization activity  dendritic spine  dendritic shaft  endothelial cell migration  cadherin binding  regulation of synaptic plasticity  extracellular exosome  
NDEx NetworkGIPC1
Atlas of Cancer Signalling NetworkGIPC1
Wikipedia pathwaysGIPC1
Orthology - Evolution
OrthoDB10755
GeneTree (enSembl)ENSG00000123159
Phylogenetic Trees/Animal Genes : TreeFamGIPC1
HOVERGENO14908
HOGENOMO14908
Homologs : HomoloGeneGIPC1
Homology/Alignments : Family Browser (UCSC)GIPC1
Gene fusions - Rearrangements
Fusion : MitelmanGIPC1/PKN1 [19p13.12/19p13.12]  
Fusion : MitelmanGIPC1/UBL3 [19p13.12/13q12.3]  [t(13;19)(q12;p13)]  
Fusion : MitelmanZNF100/GIPC1 [19p12/19p13.12]  [t(19;19)(p12;p13)]  
Fusion: TCGA_MDACCGIPC1 19p13.12 UBL3 13q12.3 OV
Fusion: TCGA_MDACCZNF100 19p12 GIPC1 19p13.12 LUAD
Tumor Fusion PortalGIPC1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGIPC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GIPC1
dbVarGIPC1
ClinVarGIPC1
1000_GenomesGIPC1 
Exome Variant ServerGIPC1
ExAC (Exome Aggregation Consortium)ENSG00000123159
GNOMAD BrowserENSG00000123159
Genetic variants : HAPMAP10755
Genomic Variants (DGV)GIPC1 [DGVbeta]
DECIPHERGIPC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGIPC1 
Mutations
ICGC Data PortalGIPC1 
TCGA Data PortalGIPC1 
Broad Tumor PortalGIPC1
OASIS PortalGIPC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGIPC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGIPC1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GIPC1
DgiDB (Drug Gene Interaction Database)GIPC1
DoCM (Curated mutations)GIPC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GIPC1 (select a term)
intoGenGIPC1
Cancer3DGIPC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605072   
Orphanet
DisGeNETGIPC1
MedgenGIPC1
Genetic Testing Registry GIPC1
NextProtO14908 [Medical]
TSGene10755
GENETestsGIPC1
Target ValidationGIPC1
Huge Navigator GIPC1 [HugePedia]
snp3D : Map Gene to Disease10755
BioCentury BCIQGIPC1
ClinGenGIPC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10755
Chemical/Pharm GKB GenePA34371
Clinical trialGIPC1
Miscellaneous
canSAR (ICR)GIPC1 (select the gene name)
Probes
Litterature
PubMed79 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGIPC1
EVEXGIPC1
GoPubMedGIPC1
iHOPGIPC1
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 : Tue Nov 21 14:14:36 CET 2017

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