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ITSN1 (intersectin 1)

Identity

Alias_namesSH3D1A
ITSN
intersectin 1 (SH3 domain protein)
Alias_symbol (synonym)SH3P17
MGC134948
MGC134949
Other alias
HGNC (Hugo) ITSN1
LocusID (NCBI) 6453
Atlas_Id 41028
Location 21q22.11  [Link to chromosome band 21q22]
Location_base_pair Starts at 33642478 and ends at 33838498 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CLIC6 (21q22.12) / ITSN1 (21q22.11)ITSN1 (21q22.11) / KIAA1211 (4q12)ITSN1 (21q22.11) / MATN1 (1p35.2)
ITSN1 (21q22.11) / NEBL (10p12.31)ITSN1 (21q22.11) / ZNF490 (19p13.2)KIAA1211 (4q12) / ITSN1 (21q22.11)
ZNF490 (19p13.2) / ITSN1 (21q22.11)CLIC6 21q22.12 / ITSN1 21q22.11ITSN1 21q22.11 / KIAA1211 4q12
ITSN1 21q22.11 / NEBL 10p12.31KIAA1211 4q12 / ITSN1 21q22.11

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 Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)ITSN1   6183
Cards
Entrez_Gene (NCBI)ITSN1  6453  intersectin 1
AliasesITSN; SH3D1A; SH3P17
GeneCards (Weizmann)ITSN1
Ensembl hg19 (Hinxton)ENSG00000205726 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000205726 [Gene_View]  chr21:33642478-33838498 [Contig_View]  ITSN1 [Vega]
ICGC DataPortalENSG00000205726
TCGA cBioPortalITSN1
AceView (NCBI)ITSN1
Genatlas (Paris)ITSN1
WikiGenes6453
SOURCE (Princeton)ITSN1
Genetics Home Reference (NIH)ITSN1
Genomic and cartography
GoldenPath hg38 (UCSC)ITSN1  -     chr21:33642478-33838498 +  21q22.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ITSN1  -     21q22.11   [Description]    (hg19-Feb_2009)
EnsemblITSN1 - 21q22.11 [CytoView hg19]  ITSN1 - 21q22.11 [CytoView hg38]
Mapping of homologs : NCBIITSN1 [Mapview hg19]  ITSN1 [Mapview hg38]
OMIM602442   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_001001132 NM_001331008 NM_001331009 NM_001331010 NM_001331011 NM_001331012 NM_003024
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ITSN1
Cluster EST : UnigeneHs.725942 [ NCBI ]
CGAP (NCI)Hs.725942
Alternative Splicing GalleryENSG00000205726
Gene ExpressionITSN1 [ NCBI-GEO ]   ITSN1 [ EBI - ARRAY_EXPRESS ]   ITSN1 [ SEEK ]   ITSN1 [ MEM ]
Gene Expression Viewer (FireBrowse)ITSN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6453
GTEX Portal (Tissue expression)ITSN1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15811   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15811  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15811
Splice isoforms : SwissVarQ15811
PhosPhoSitePlusQ15811
Domaine pattern : Prosite (Expaxy)C2 (PS50004)    DH_1 (PS00741)    DH_2 (PS50010)    EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)    EH (PS50031)    PH_DOMAIN (PS50003)    SH3 (PS50002)   
Domains : Interpro (EBI)C2_dom    DH-domain    EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom    EH_dom    GDS_CDC24_CS    PH_dom-like    PH_domain    SH3_domain   
Domain families : Pfam (Sanger)C2 (PF00168)    EF-hand_4 (PF12763)    PH_13 (PF16652)    RhoGEF (PF00621)    SH3_1 (PF00018)    SH3_9 (PF14604)   
Domain families : Pfam (NCBI)pfam00168    pfam12763    pfam16652    pfam00621    pfam00018    pfam14604   
Domain families : Smart (EMBL)C2 (SM00239)  EFh (SM00054)  EH (SM00027)  PH (SM00233)  RhoGEF (SM00325)  SH3 (SM00326)  
Conserved Domain (NCBI)ITSN1
DMDM Disease mutations6453
Blocks (Seattle)ITSN1
PDB (SRS)1KI1    2KGR    2KHN    3FIA    3QBV    4IIM    5HZI    5HZJ    5HZK   
PDB (PDBSum)1KI1    2KGR    2KHN    3FIA    3QBV    4IIM    5HZI    5HZJ    5HZK   
PDB (IMB)1KI1    2KGR    2KHN    3FIA    3QBV    4IIM    5HZI    5HZJ    5HZK   
PDB (RSDB)1KI1    2KGR    2KHN    3FIA    3QBV    4IIM    5HZI    5HZJ    5HZK   
Structural Biology KnowledgeBase1KI1    2KGR    2KHN    3FIA    3QBV    4IIM    5HZI    5HZJ    5HZK   
SCOP (Structural Classification of Proteins)1KI1    2KGR    2KHN    3FIA    3QBV    4IIM    5HZI    5HZJ    5HZK   
CATH (Classification of proteins structures)1KI1    2KGR    2KHN    3FIA    3QBV    4IIM    5HZI    5HZJ    5HZK   
SuperfamilyQ15811
Human Protein AtlasENSG00000205726
Peptide AtlasQ15811
HPRD03898
IPIIPI00304740   IPI00220592   IPI00220593   IPI00220594   IPI00451616   IPI00871929   IPI00878717   IPI00451615   IPI00903117   IPI01025838   IPI01010054   IPI00852754   IPI00852863   IPI00829634   IPI00852819   IPI00852670   IPI00878659   IPI00893945   IPI00816762   IPI00927290   
Protein Interaction databases
DIP (DOE-UCLA)Q15811
IntAct (EBI)Q15811
FunCoupENSG00000205726
BioGRIDITSN1
STRING (EMBL)ITSN1
ZODIACITSN1
Ontologies - Pathways
QuickGOQ15811
Ontology : AmiGOguanyl-nucleotide exchange factor activity  guanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  calcium ion binding  protein binding  cytosol  plasma membrane  clathrin-coated pit  small GTPase mediated signal transduction  viral process  kinase activator activity  lamellipodium  cell junction  endocytic vesicle  protein complex scaffold  regulation of Rho protein signal transduction  positive regulation of phosphorylation  neuron projection  positive regulation of apoptotic process  negative regulation of neuron apoptotic process  positive regulation of GTPase activity  synapse  ephrin receptor signaling pathway  synaptic vesicle endocytosis  regulation of small GTPase mediated signal transduction  positive regulation of protein kinase B signaling  membrane organization  proline-rich region binding  
Ontology : EGO-EBIguanyl-nucleotide exchange factor activity  guanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  calcium ion binding  protein binding  cytosol  plasma membrane  clathrin-coated pit  small GTPase mediated signal transduction  viral process  kinase activator activity  lamellipodium  cell junction  endocytic vesicle  protein complex scaffold  regulation of Rho protein signal transduction  positive regulation of phosphorylation  neuron projection  positive regulation of apoptotic process  negative regulation of neuron apoptotic process  positive regulation of GTPase activity  synapse  ephrin receptor signaling pathway  synaptic vesicle endocytosis  regulation of small GTPase mediated signal transduction  positive regulation of protein kinase B signaling  membrane organization  proline-rich region binding  
NDEx NetworkITSN1
Atlas of Cancer Signalling NetworkITSN1
Wikipedia pathwaysITSN1
Orthology - Evolution
OrthoDB6453
GeneTree (enSembl)ENSG00000205726
Phylogenetic Trees/Animal Genes : TreeFamITSN1
HOVERGENQ15811
HOGENOMQ15811
Homologs : HomoloGeneITSN1
Homology/Alignments : Family Browser (UCSC)ITSN1
Gene fusions - Rearrangements
Fusion : MitelmanCLIC6/ITSN1 [21q22.12/21q22.11]  [t(21;21)(q22;q22)]  
Fusion : MitelmanITSN1/KIAA1211 [21q22.11/4q12]  [t(4;21)(q12;q22)]  
Fusion : MitelmanITSN1/MATN1 [21q22.11/1p35.2]  [t(1;21)(p35;q22)]  
Fusion : MitelmanITSN1/NEBL [21q22.11/10p12.31]  [t(10;21)(p12;q22)]  
Fusion : MitelmanITSN1/ZNF490 [21q22.11/19p13.2]  [t(19;21)(p13;q22)]  
Fusion : MitelmanKIAA1211/ITSN1 [4q12/21q22.11]  [t(4;21)(q12;q22)]  
Fusion : MitelmanZNF490/ITSN1 [19p13.2/21q22.11]  [t(19;21)(p13;q22)]  
Fusion: TCGACLIC6 21q22.12 ITSN1 21q22.11 LUAD
Fusion: TCGAITSN1 21q22.11 KIAA1211 4q12 BRCA
Fusion: TCGAITSN1 21q22.11 NEBL 10p12.31 LUAD
Fusion: TCGAKIAA1211 4q12 ITSN1 21q22.11 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerITSN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ITSN1
dbVarITSN1
ClinVarITSN1
1000_GenomesITSN1 
Exome Variant ServerITSN1
ExAC (Exome Aggregation Consortium)ITSN1 (select the gene name)
Genetic variants : HAPMAP6453
Genomic Variants (DGV)ITSN1 [DGVbeta]
DECIPHERITSN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisITSN1 
Mutations
ICGC Data PortalITSN1 
TCGA Data PortalITSN1 
Broad Tumor PortalITSN1
OASIS PortalITSN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICITSN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDITSN1
intOGen PortalITSN1
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 ITSN1
DgiDB (Drug Gene Interaction Database)ITSN1
DoCM (Curated mutations)ITSN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ITSN1 (select a term)
intoGenITSN1
Cancer3DITSN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602442   
Orphanet
MedgenITSN1
Genetic Testing Registry ITSN1
NextProtQ15811 [Medical]
TSGene6453
GENETestsITSN1
Target ValidationITSN1
Huge Navigator ITSN1 [HugePedia]
snp3D : Map Gene to Disease6453
BioCentury BCIQITSN1
ClinGenITSN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6453
Chemical/Pharm GKB GenePA29981
Clinical trialITSN1
Miscellaneous
canSAR (ICR)ITSN1 (select the gene name)
Probes
Litterature
PubMed78 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineITSN1
EVEXITSN1
GoPubMedITSN1
iHOPITSN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:39:01 CEST 2017

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