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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ITSN1 Gene

protein-coding   GIFtS: 60
GCID: GC21P035014

intersectin 1 (SH3 domain protein)


(Previous symbols: SH3D1A, ITSN)
 Explore 9 diseases affiliated with
ITSN1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ITSN1    

Aliases
for ITSN1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Intersectin 1 (SH3 Domain Protein)1 2     Human Intersectin-SH3 Domain-Containing Protein SH3P172
SH3D1A1 2 3 5     Intersectin 1 Short Form Variant 32
SH3P171 2 3 5     Intersectin 1 Short Form Variant, 112
ITSN1 2 3     Intersectin Short Variant 122
SH3 Domain-Containing Protein 1A2 3     Intersectin-11
MGC1349481     Src Homology 3 Domain-Containing Protein2
MGC1349491     

External Ids:    HGNC: 61831   Entrez Gene: 64532   Ensembl: ENSG000002057267   OMIM: 6024425   UniProtKB: Q158113   

Export aliases for ITSN1 gene to outside databases

Previous GC identifers: GC21P031592 GC21P033935 GC21P033936 GC21P020493


Summaries
for ITSN1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ITSN1:
The protein encoded by this gene is a cytoplasmic membrane-associated protein that indirectly coordinates endocytic
membrane traffic with the actin assembly machinery. In addition, the encoded protein may regulate the formation of
clathrin-coated vesicles and could be involved in synaptic vesicle recycling. This protein has been shown to interact
with dynamin, CDC42, SNAP23, SNAP25, SPIN90, EPS15, EPN1, EPN2, and STN2. Multiple transcript variants encoding
different isoforms have been found for this gene, but the full-length nature of only two of them have been
characterized so far. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ITSN1_HUMAN, Q15811
Function: Adapter protein that may provide indirect link between the endocytic membrane traffic and the actin assembly
machinery. May regulate the formation of clathrin-coated vesicles. Involved in endocytosis of integrin beta-1 (ITGB1)
and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR may involve association
with DAB2. Isoform 1 could be involved in brain-specific synaptic vesicle recycling. Inhibits ARHGAP31 activity toward
RAC1

Gene Wiki entry for ITSN1


Genomic Views
for ITSN1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000021.8  NC_018932.1  NT_011512.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ITSN1 gene promoter:
         TBP   p53   FOXO3   FOXD1   STAT5A   Tal-1beta   AREB6   S8   FOXO3a   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ITSN1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ITSN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ITSN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.1-q22.2   Ensembl cytogenetic band:  21q22.11   HGNC cytogenetic band: 21q22.1-q22.2

ITSN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ITSN1 gene location

GeneLoc information about chromosome 21         GeneLoc Exon Structure

GeneLoc location for GC21P035014:  view genomic region     (about GC identifiers)

Start:
 35,014,706 bp from pter      End:
 35,272,165 bp from pter
Size:
 257,460 bases      Orientation:
 plus strand

Proteins
for ITSN1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: ITSN1_HUMAN, Q15811 (See protein sequence)
Recommended Name: Intersectin-1  
Size: 1721 amino acids; 195422 Da
Subunit: Interacts with dynamin, CDC42, SNAP25 and SNAP23. Clusters several dynamin in a manner that is regulated by
alternative splicing. Interacts with clathrin-associated proteins and other components of the endocytic machinery,
such as SPIN90, EPS15, EPN1, EPN2, STON2, FCHO1, FCHO2 and DAB2. Interacts (via SH3 domains) with REPS1 and SGIP1.
Interacts with ARHGAP31. Interacts with ADAM15
Subcellular location: Endomembrane system (By similarity). Cell junction, synapse, synaptosome (By similarity). Cell
projection, lamellipodium. Membrane, clathrin-coated pit. Note=Colocalizes with SGIP1 at the plasma membrane in
structures corresponding most problably to clathrin-coated pits (Probable)
Caution: Studies in clathrin-mediated endocytosis of ITGB1 and TFR used a siRNA mixture of ISTN1 and ISTN2, and a Dab2
mutant with impaired binding to EH domain-containing proteins EPS15 and ITSN1 suggesting a partially overlapping role
of the EH domain-containing proteins (PubMed:22648170)
Sequence caution: Sequence=AAC50592.1; Type=Erroneous initiation;
6 PDB 3D structures from and Proteopedia for ITSN1:
1KI1 (3D)        2KGR (3D)        2KHN (3D)        3FIA (3D)        3QBV (3D)        4IIM (3D)    
Secondary accessions: O95216 Q1ED40 Q9UET5 Q9UK60 Q9UNK1 Q9UNK2 Q9UQ92
Alternative splicing: 4 isoforms:  Q15811-1   Q15811-2   Q15811-3   Q15811-4   

Explore the universe of human proteins at neXtProt for ITSN1: NX_Q15811

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q15811

    • ITSN1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001001132.1  NP_003015.2  

    ENSEMBL proteins: 
     ENSP00000382290   ENSP00000400079   ENSP00000370719   ENSP00000370691   ENSP00000382301  
     ENSP00000382289   ENSP00000382292   ENSP00000382286   ENSP00000407132   ENSP00000370683  
     ENSP00000411464   ENSP00000415302   ENSP00000396054   ENSP00000413290   ENSP00000370684  
     ENSP00000408319   ENSP00000409800   ENSP00000370685   ENSP00000387377   ENSP00000382265  
     ENSP00000369294   ENSP00000382275  
    Reactome Protein details: Q15811
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate: ITSN1
    OriGene Custom Protein Services for ITSN1 
    GenScript Custom Purified and Recombinant Proteins Services for ITSN1
    Novus Biologicals ITSN1 Protein
    Novus Biologicals ITSN1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ITSN1

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IDA--
    GO:0005905coated pit IDA--
    GO:0019717synaptosome ----


    ITSN1 for ontologies           About GeneDecksing



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    Uscn Antibodies for ITSN1
    ThermoFisher Antibodies for ITSN1

    Assay Products for ITSN1: 
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    Uscn ELISAs and CLIAs for ITSN1

    Protein Domains /
    Families
    for ITSN1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ITSN1 for domains           About GeneDecksing

    5/15 InterPro domains/families (see all 15):
     IPR011511 SH3_2
     IPR018247 EF_Hand_1_Ca_BS
     IPR001331 GDS_CDC24_CS
     IPR008973 C2_Ca/lipid-bd_dom_CaLB
     IPR011992 EF-hand-like_dom

    Graphical View of Domain Structure for InterPro Entry Q15811

    ProtoNet protein and cluster: Q15811

    5 Blocks protein families:
    IPB000008 C2 domain
    IPB000219 DH domain
    IPB000261 EPS15 homology (EH)
    IPB001452 SH3 domain signature
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: ITSN1_HUMAN, Q15811
    Domain: SH3-3, SH3-4 and SH3-5, but not SH3-1 and SH3-2 domains, bind to dynamin (By similarity). SH3-1 and SH3-4 bind
    to ARHGAP31
    Domain: The KLERQ domain binds to SNAP-25 and SNAP-23 (By similarity)
    Similarity: Contains 1 C2 domain
    Similarity: Contains 1 DH (DBL-homology) domain
    Similarity: Contains 2 EF-hand domains
    Similarity: Contains 2 EH domains
    Similarity: Contains 1 PH domain
    Similarity: Contains 5 SH3 domains


    Function
    for ITSN1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: ITSN1_HUMAN, Q15811
    Function: Adapter protein that may provide indirect link between the endocytic membrane traffic and the actin assembly
    machinery. May regulate the formation of clathrin-coated vesicles. Involved in endocytosis of integrin beta-1 (ITGB1)
    and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR may involve association
    with DAB2. Isoform 1 could be involved in brain-specific synaptic vesicle recycling. Inhibits ARHGAP31 activity toward
    RAC1

    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 2): ITSN1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ITSN1
    8/67 QIAGEN miScript miRNA Assays for microRNAs that regulate ITSN1 (see all 67):
    hsa-miR-411* hsa-miR-642a hsa-miR-200a hsa-miR-30d hsa-miR-578 hsa-miR-10b* hsa-miR-1304 hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmid: ITSN1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ITSN1 (see all 7)
    OriGene shRNA RFP: ITSN1
    OriGene siRNA: ITSN1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ITSN1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for ITSN1

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ITSN1 (see all 7)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ITSN1 (see all 3)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): ITSN1 (NM_003024)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ITSN1 

    Cell Line
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    Search LifeMap BioReagents cell lines for ITSN1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITSN1

    Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005085guanyl-nucleotide exchange factor activity NAS9799604
    GO:0005089Rho guanyl-nucleotide exchange factor activity IEA--
    GO:0005509calcium ion binding NAS9799604
    GO:0005515protein binding IPI--
    GO:0005543phospholipid binding IEA--


    ITSN1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for ITSN1: Itsn1tm2.1Mapr Itsn1tm1.1Mapr
         6 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Itsn1):
     cellular  endocrine/exocrine gland  growth/size  mortality/aging  nervous system 
     no phenotypic analysis 

    ITSN1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ITSN1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cell death signalling via NRAGE, NRIF and NADE
    		Cell death signalling via NRAGE, NRIF and NADE1.00
    		G alpha (12/13) signalling events0.39
    		NRAGE signals death through JNK0.74
    		Rho GTPase cycle0.25
    		p75 NTR receptor-mediated signalling0.73
    		Signaling by Rho GTPases0.25
    2Signaling by GPCR
    		Signaling by GPCR1.00
    		Signal Transduction0.56
    		GPCR downstream signaling0.89
    3Cell adhesion_Ephrins signaling
    		Cell adhesion_Ephrins signaling1.00
    		EPHB forward signaling0.30
    		Cell adhesion Ephrins signaling1.00
    4Internalization of ErbB1
    		Internalization of ErbB11.00
    5Regulation of CDC42 activity
    		Regulation of CDC42 activity1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for ITSN1
        Cell adhesion Ephrins signaling

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for ITSN1
        EphB-EphrinB Signaling

    1 GeneGo (Thomson Reuters) Pathway for ITSN1
        Cell adhesion Ephrins signaling

    3 BioSystems Pathways for ITSN1 
        Internalization of ErbB1
    EPHB forward signaling
    Regulation of CDC42 activity

    5/10        Reactome Pathways for ITSN1 (see all 10)
        GPCR downstream signaling
    Signaling by Rho GTPases
    G alpha (12/13) signalling events
    Cell death signalling via NRAGE, NRIF and NADE
    Signaling by GPCR



    ITSN1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ITSN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/127 Interacting proteins for ITSN1 (Q158111, 2, 3 ENSP000003707194) via UniProtKB, MINT, STRING, and/or I2D (see all 127)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CBLP226812, 3, ENSP000002640334MINT-7044860 MINT-7045235 MINT-7044227 MINT-7045399 MINT-7045213 MINT-7045640 MINT-7046383 MINT-7046364 MINT-7044625 MINT-7045937 MINT-7045623 I2D: score=5 STRING: ENSP00000264033
    INPPL1O153572, ENSP000002982294MINT-6673475 MINT-6673513 MINT-6673386 MINT-6673604 MINT-6673447 MINT-6673542 MINT-6673557 MINT-6673462 MINT-6673572 MINT-6673429 STRING: ENSP00000298229
    ARHGAP31Q2M1Z32, 3, ENSP000002642454MINT-7302489 I2D: score=4 STRING: ENSP00000264245
    DISC1Q9NRI51, 3, ENSP000003555964EBI-602041,EBI-529989 I2D: score=4 STRING: ENSP00000355596
    SYNJ1O434262, 3, ENSP000003222344MINT-7302524 I2D: score=2 STRING: ENSP00000322234
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process TAS--
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0035023regulation of Rho protein signal transduction IEA--
    GO:0035556intracellular signal transduction ----
    GO:0042327positive regulation of phosphorylation ----


    ITSN1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ITSN1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ITSN1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ITSN1
    1 Novoseek chemical compound relationship for ITSN1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 17.5 2 19166927 (1)

    Search CenterWatch for drugs/clinical trials and news about ITSN1 

    Transcripts
    for ITSN1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for ITSN1 gene (2 alternative transcripts): 
    NM_001001132.1  NM_003024.2  

    Unigene Cluster for ITSN1:

    Intersectin 1 (SH3 domain protein)
    Hs.160324  [show with all ESTs]
    Unigene Representative Sequence: AF064244
    18/34 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 34):
    ENST00000399353 ENST00000444491 ENST00000470742 ENST00000381318(uc002yta.1)
    ENST00000381291(uc002ysx.3 uc002yth.4 uc002ysz.3 uc010gmg.3 uc010gmh.3 uc002ysw.3 uc010gmi.3 uc010gmj.3 uc002ysy.3 uc010gmk.3 uc002yte.3)
    ENST00000399367 ENST00000399352(uc010gml.3 uc002ytd.3 uc021wip.1)
    ENST00000399355 ENST00000399349 ENST00000451686 ENST00000381283 ENST00000456489
    ENST00000488166 ENST00000474132 ENST00000419241 ENST00000440794(uc002ytf.1)
    ENST00000465143 ENST00000487427(uc002ytg.1)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ITSN1
    8/67 QIAGEN miScript miRNA Assays for microRNAs that regulate ITSN1 (see all 67):
    hsa-miR-411* hsa-miR-642a hsa-miR-200a hsa-miR-30d hsa-miR-578 hsa-miR-10b* hsa-miR-1304 hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmid: ITSN1 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ITSN1 (see all 7)
    OriGene shRNA RFP: ITSN1
    OriGene siRNA: ITSN1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ITSN1
    Clone
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): ITSN1 (NM_003024)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ITSN1 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ITSN1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ITSN1

    Additional cDNA sequence: 

    AF064243.1 AF064244.1 AF085873.1 AF114487.1 AF114488.1 AF180522.1 AK027846.1 AK074554.1 
    AK075290.1 AK300274.1 AY138139.1 AY254341.1 AY340592.1 AY340593.1 AY603418.1 AY603419.1 
    AY605091.1 AY605092.1 AY639648.1 AY639649.1 AY639650.1 AY639651.1 AY639652.1 AY639653.1 
    BC013578.1 BC020269.1 BC039036.1 BC058925.1 BC073744.1 BC116185.1 BC116186.2 BC117560.1 
    BX538175.1 DQ340865.1 DQ386455.1 DQ679754.1 DQ679755.1 DQ679756.1 DQ679757.1 EU107386.1 
    EU117382.1 EU120733.1 EU120734.1 EU120735.1 EU120736.1 EU140799.1 EU140800.1 EU152331.1 
    EU191901.1 GU939616.1 GU939617.1 GU939621.1 GU939622.1 U61166.1 

    24/29 DOTS entries (see all 29):

    DT.92427835  DT.446675  DT.121141117  DT.97822137  DT.100791834  DT.100791833  DT.101971694  DT.102843326 
    DT.442062  DT.100791828  DT.121141342  DT.121140990  DT.121141242  DT.40209558  DT.121141057  DT.121141383 
    DT.101977232  DT.91704783  DT.121141558  DT.407351  DT.92011867  DT.92020614  DT.92427840  DT.101967081 

    24/302 AceView cDNA sequences (see all 302):

    AA313515 AW128902 AI076398 CA390605 BP365892 BQ574825 AF114488 BM979392 
    AW305159 BC073744 AY340592 AY603419 AF085873 BC020269 CF528618 AK027846 
    AY605091 AI424126 BX117538 AY639648 F07636 CB215044 BQ941336 BM681943 

    GeneLoc Exon Structure


    Expression
    for ITSN1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ITSN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTGCAGAGAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ITSN1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainMedulla OblongataBrain
    Neural TubeMetencephalonNeural Tube
    Neural TubeTelencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ITSN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ITSN1

    SOURCE GeneReport for Unigene cluster: Hs.160324

    UniProtKB/Swiss-Prot: ITSN1_HUMAN, Q15811
    Tissue specificity: Isoform 2 is ubiquitous in adult and fetal tissues with high expression in skeletal muscle, heart,
    spleen, ovary, testis and all fetal tissues tested and low expression in thymus, blood, lung, liver and pancreas.
    Isoform 1 is expressed almost exclusively in the brain, in all brain regions. Not expressed in the spinal cord

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    Orthologs
    for ITSN1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ITSN1 gene from 8/27 species (see all 27)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ITSN11 intersectin 1 (SH3 domain protein) 83.23(n)
    93.24(a)    		   418506  XM_416715.3  XP_416715.2 
    lizard
    (Anolis carolinensis)    		 Reptilia ITSN16
    		 --
    		 91(a)
    		 1 ↔ 1
    		 3(142787397-142864961)
    African clawed frog
    (Xenopus laevis)    		 Amphibia itsn-A2 intersectin 77.5(n)    AF032118.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii itsn11 intersectin 1 (SH3 domain protein) 70.87(n)
    80.39(a)    		   368504  NM_207182.1  NP_997065.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Dap1601 Dynamin associated protein 160 47.56(n)
    38.4(a)    		   35378  NM_057974.3  NP_477322.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea Y116A8C.363
    itsn-11    		 Protein ITSN-11 34(a)
    (best of 2)3
    44.51(n)1
    33.43(a)1    		   IV(17119830-17122230)3
    1784911  NM_070636.31  NP_503037.21 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT1G207606
    AT1G216306
    		 calcium-binding EF-hand-containing protein
    		 9(a)
    8(a)
    		 many ↔ many
    many ↔ many
    		 1(7209369-7214993)
    1(7581084-7588151)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    		 EF hand family protein, putative, expressed
    		 9(a)
    8(a)
    		 many ↔ many
    many ↔ many
    		 3(1719030-1726903)
    6(31012733-31020756)


    ENSEMBL Gene Tree for ITSN1 (if available)
    TreeFam Gene Tree for ITSN1 (if available) 

    Paralogs
    for ITSN1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ITSN1 gene
    EPS15L12  EHD32  EHD22  EHD12  EHD42  EPS152  ITSN22  SRL2  
    18/40 SIMAP similar genes for ITSN1 using alignment to 44 protein entries:     ITSN1_HUMAN (see all proteins) (see all similar genes):
    ITSN    DKFZp686J17173    GRAP2    GRAPL    SH3GL2    ARHGEF7
    ITSN2    VAV3    KIAA0142    ARHGEF6    STAC    PACSIN2
    MYO1E    NEBL    NOSTRIN    NCF1B    NCF1C    PREX1

    ITSN1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ITSN1
    PGOHUM00000235121


    Genomic Variants
    for ITSN1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4024 NCBI SNPs in ITSN1 are shown (see all 4024)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 21 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs751339351,2
    		F,--35012819(+) TCTCAG/AAGGGT 3 -- int1 us2k11Minor allele frequency- A:0.03WA 118
    rs1838394621,2
    		--35012840(+) ATTAAA/TTAATA 3 -- int1 us2k10--------
    rs1180700811,2
    		--35012920(+) TTGGGC/TACATC 3 -- int1 us2k11Minor allele frequency- T:0.01EA 120
    rs37613521,2
    		C,F,H,--35013129(+) TCAGAT/CTTTGA 3 -- int1 us2k19Minor allele frequency- C:0.22NS EA NA 660
    rs1149315031,2
    		F,--35013184(+) TTTAAT/CACGAA 3 -- us2k1 int11Minor allele frequency- C:0.03WA 118
    rs1435506331,2
    		--35013195(+) GAAAAC/GAACGT 3 -- int1 us2k10--------
    rs1889041731,2
    		--35013252(+) TCTCAA/GATATA 3 -- int1 us2k10--------
    rs1930976761,2
    		--35013276(+) AACATA/TTAATT 3 -- us2k1 int10--------
    rs1843300821,2
    		--35013310(+) TTCACG/TTTTTA 3 -- int1 us2k10--------
    rs1867019871,2
    		--35013392(+) AAACCC/TTTCTA 3 -- int1 us2k10--------

    HapMap Linkage Disequilibrium report for ITSN1 (35014706 - 35264706 bp, first 250kb of ITSN1)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ITSN1: --

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    Disorders / Diseases
    for ITSN1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ITSN1 for disorders           About GeneDecksing

    OMIM gene information: 602442    OMIM disorders: --

    9 diseases for ITSN1:    About MalaCards
    wiskott-aldrich syndrome    down syndrome    alzheimer's disease    neurodegeneration
    breast cancer    glioblastoma    neuronitis    pancreatic cancer
    pancreatitis

    1 disease from the University of Copenhagen DISEASES database for ITSN1:
    Down syndrome

    1 Novoseek disease relationship for ITSN1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    down syndrome 54.7 6 10072581 (1), 16442855 (1), 10482960 (1), 10666688 (1)


    Export disorders for ITSN1 gene to outside databases

    Publications
    for ITSN1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ITSN1 gene, integrated from 9 sources (see all 97):
    (articles sorted by number of sources associating them with ITSN1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codon. (PubMed id 9799604)1, 2, 3, 9 Guipponi M....Antonarakis S.E. (1998)
    2. Alu-splice cloning of human intersectin (ITSN), a putative multivalent binding protein expressed in proliferating and differentiating neurons and overexpressed in Down syndrome. (PubMed id 10482960)1, 2, 9 Pucharcos C.... Pritchard M. (1999)
    3. The human intersectin genes and their spliced variants are differentially expressed. (PubMed id 11690630)1, 2, 9 Pucharcos C.... de la Luna S. (2001)
    4. The SH3D1A gene maps to human chromosome 21q22.1-->q22.2. (PubMed id 9465890)1, 2, 9 Chen H. and Antonarakis S.E. (1997)
    5. Intersectin 1 forms complexes with SGIP1 and Reps1 in clathrin-coated pits. (PubMed id 20946875)1, 2 Dergai O....Rynditch A. (2010)
    6. The activity of the GTPase-activating protein CdGAP is regulated by the endocytic protein intersectin. (PubMed id 11744688)1, 2 Jenna S.... Lamarche-Vane N. (2002)
    7. Structural basis for the selective activation of Rho GTPases by Dbl exchange factors. (PubMed id 12006984)1, 2 Snyder J.T.... Sondek J. (2002)
    8. Intersectin, a novel adaptor protein with two Eps15 homology and five Src homology 3 domains. (PubMed id 9813051)1, 3 Yamabhai M....Kay B.K. (1998)
    9. Cloning of ligand targets: systematic isolation of SH3 domain- containing proteins. (PubMed id 9630982)1, 2 Sparks A.B.... Kay B.K. (1996)
    10. Intersectin activates Ras but stimulates transcription through an independent pathway involving JNK. (PubMed id 12970366)1, 9 Mohney R.P....O'Bryan J.P. (2003)

    External Searches for ITSN1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ITSN1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6453 HGNC: 6183 AceView: ITSN1 Ensembl:ENSG00000205726 euGenes: HUgn6453
    ECgene: ITSN1 H-InvDB: ITSN1

    Other Databases showing ITSN1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ITSN1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ITSN1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ITSN1 Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for ITSN1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for ITSN1 gene:
    Search GeneIP for patents involving ITSN1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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