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ITSN1 Gene

protein-coding   GIFtS: 62
GCID: GC21P035014

Intersectin 1 (SH3 Domain Protein)


(Previous symbols: SH3D1A, ITSN)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Intersectin 1 (SH3 Domain Protein)1 2     Src Homology 3 Domain-Containing Protein1 2
SH3D1A1 2 3 5     SH3 Domain-Containing Protein 1A2 3
ITSN1 2 3     111
SH3P172 3 5     Intersectin 1 Short Form Variant1
Human Intersectin-SH3 Domain-Containing Protein SH3P171 2     SH3 Domain Protein-1A1
Intersectin 1 Short Form Variant 31 2     Intersectin 1 Short Form Variant, 112
Intersectin Short Variant 121 2     intersectin-12

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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ITSN1 Gene:
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)

GeneCards Summary for ITSN1 Gene:
ITSN1 (intersectin 1 (SH3 domain protein)) is a protein-coding gene. GO annotations related to this gene include guanyl-nucleotide exchange factor activity and calcium ion binding. An important paralog of this gene is REPS1.

UniProtKB/Swiss-Prot: ITSN1_HUMAN, Q15811
Function: Acts as guanine nucleotide exchange factor (GEF) specific for the CDC42 GTPase (By similarity). 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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000021.8  NT_011512.12  NC_018932.2  
Regulatory elements:
   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 Chromatin IP Primers for ITSN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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: A7Y322 A8CTX8 A8CTY3 A8CTY7 A8D7D0 A8DCP3 B4DTM2 E7ERJ1 E9PE44 E9PG01
E9PHV2 O95216 Q0PW94 Q0PW95 Q0PW97 Q14BD3 Q1ED40 Q20BK3 Q9UET5 Q9UK60 Q9UNK1 Q9UNK2 Q9UQ92
Alternative splicing: 13 isoforms:  Q15811-1   Q15811-2   Q15811-3   Q15811-4   Q15811-5   Q15811-6   Q15811-7   Q15811-8   
Q15811-9   Q15811-10   Q15811-11   Q15811-12   Q15811-13   (Contains a premature stop codon, potentially subjected to NMD)

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

Explore proteomics data for ITSN1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys658
  • Modification sites at PhosphoSitePlus

  • See ITSN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    ITSN1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for ITSN1
    OriGene Custom MassSpec
    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 Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ITSN1

     
    Search eBioscience for Proteins for ITSN1 

     
    antibodies-online proteins for ITSN1 (2 products) 

     
    Search antibodies-online for peptides for ITSN1

    ITSN1 Antibody Products:

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    Abcam antibodies for ITSN1
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    ThermoFisher Antibodies for ITSN1
    antibodies-online antibodies for ITSN1 (9 products) 

    ITSN1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ITSN1
    Cloud-Clone Corp. CLIAs for ITSN1
    Search eBioscience for ELISAs for ITSN1 
    antibodies-online kits for ITSN1 (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PLEKH: Pleckstrin homology (PH) domain containing
    EFHAND: EF-hand domain containing
    ARHGEF: Rho guanine nucleotide exchange factors

    Selected InterPro protein domains (see all 10):
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR000219 DH-domain
     IPR001849 Pleckstrin_homology
     IPR001452 SH3_domain

    Graphical View of Domain Structure for InterPro Entry Q15811

    ProtoNet protein and cluster: Q15811

    5 Blocks protein domains:
    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)
    Domain: In an autoinhibited form the SH3 domain 5 may bind intramolecularly to the DH domain, thus blocking the
    CDC42-binding site (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


    Find genes that share domains with ITSN1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ITSN1_HUMAN, Q15811
    Function: Acts as guanine nucleotide exchange factor (GEF) specific for the CDC42 GTPase (By similarity). 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 Ontology (GO): Selected molecular function terms (see all 7):    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 IPI12006984
    GO:0019209kinase activator activity IEA--
         
    Find genes that share ontologies with ITSN1           About GenesLikeMe


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Itsn1):
     behavior/neurological  cellular  endocrine/exocrine gland  growth/size/body  mortality/aging 
     nervous system 

    Find genes that share phenotypes with ITSN1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for ITSN1: Itsn1tm2.1Mapr Itsn1tm1.1Mapr

       genOway: Develop your customized and physiologically relevant rodent model for ITSN1

    miRNA
    Products:
        
    miRTarBase miRNAs that target ITSN1:
    hsa-mir-296-3p (MIRT038428)

    Block miRNA regulation of human, mouse, rat ITSN1 using miScript Target Protectors
    Selected qRT-PCR 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 plasmidITSN1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ITSN1
    Predesigned 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 clones in human, mouse for ITSN1 (see all 13)
    OriGene ORF clones in mouse, rat for ITSN1
    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
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ITSN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ITSN1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for ITSN1
    Browse ESI BIO Cell Lines and PureStem Progenitors for ITSN1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITSN1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ITSN1_HUMAN, Q15811: 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)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol4
    cytoskeleton2
    nucleus2

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IDA--
    GO:0005905coated pit IDA--
    GO:0030027lamellipodium IEA--
    GO:0030054cell junction IEA--

    Find genes that share ontologies with ITSN1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ITSN1 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1EPHB forward signaling
    EPHB forward signaling0.30
    Cell adhesion Ephrins signaling0.30
    2p75 NTR receptor-mediated signalling
    p75 NTR receptor-mediated signalling0.74
    NRAGE signals death through JNK0.71
    Cell death signalling via NRAGE, NRIF and NADE0.74
    G alpha (12/13) signalling events0.44
    3Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    4Rho GTPase cycle
    Rho GTPase cycle1.00
    Signaling by Rho GTPases1.00
    5Signaling by FGFR
    Signalling by NGF0.71


    Find genes that share SuperPaths with ITSN1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

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

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

    3 Reactome Pathways for ITSN1
        G alpha (12/13) signalling events
    NRAGE signals death through JNK
    Rho GTPase cycle


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ITSN1
    Interactions:

        GeneGlobe Interaction Network for ITSN1

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

    Selected Interacting proteins for ITSN1 (Q158111, 2, 3 ENSP000003707194) via UniProtKB, MINT, STRING, and/or I2D (see all 174)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CBLP226811, 2, 3, ENSP000002640334EBI-602041,EBI-518228 MINT-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
    INPPL1O153571, 2, ENSP000002982294EBI-8052395,EBI-1384248 MINT-6673475 MINT-6673513 MINT-6673386 MINT-6673604 MINT-6673447 MINT-6673542 MINT-6673557 MINT-6673462 MINT-6673572 MINT-6673429 STRING: ENSP00000298229
    DNM2P505701, 2, 3, ENSP000003527214EBI-602041,EBI-346547 MINT-2516855 MINT-65958 MINT-8254443 I2D: score=3 STRING: ENSP00000352721
    SOS1Q078892, 3, ENSP000003846754MINT-14436 MINT-16776 MINT-14434 MINT-14435 MINT-16775 MINT-16777 I2D: score=7 STRING: ENSP00000384675
    CSNK2BP678702, 3MINT-8253341 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0035023regulation of Rho protein signal transduction ----
    GO:0035556intracellular signal transduction ----
    GO:0042327positive regulation of phosphorylation ----
    GO:0043065positive regulation of apoptotic process TAS--

    Find genes that share ontologies with ITSN1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ITSN1

    1 Novoseek inferred 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)



    Find genes that share compounds with ITSN1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    Selected 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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    Selected qRT-PCR 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 plasmidITSN1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ITSN1
    Clone
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    OriGene ORF clones in mouse, rat for ITSN1
    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)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ITSN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ITSN1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for ITSN1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ITSN1
      QuantiTect SYBR Green Assays in human, mouse, rat ITSN1
      QuantiFast Probe-based Assays in human, mouse, rat ITSN1

    Additional mRNA 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 

    Selected 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 

    Selected AceView cDNA sequences (see all 302):

    AI424126 AY138139 AA777404 AI033970 AI187964 BC013578 BG249478 BU728312 
    AY639653 AL134372 CB161912 AI151142 AW128886 AY639651 AY605092 CD517617 
    CB269754 BQ010999 BU687054 NM_001001132 BX483734 AY639648 AW305159 BQ574825 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ITSN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGCAGAGAG
    ITSN1 Expression
    About this image


    ITSN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             pre Conventional Dendritic Cells Peripheral Blood
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Eye (Sensory Organs)
             Lens
    ITSN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ITSN1 Protein Expression

    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 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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ITSN1 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Itsn11 , 5 intersectin 1 (SH3 domain protein 1A)1, 5 88.16(n)1
    95.1(a)1
      16 (53.28 cM)5
    164431  NM_010587.21  NP_034717.21 
     917292815 
    chicken
    (Gallus gallus)
    Aves ITSN11 intersectin 1 (SH3 domain protein) 83.27(n)
    93.24(a)
      418506  XM_416715.4  XP_416715.2 
    lizard
    (Anolis carolinensis)
    Reptilia ITSN16
    intersectin 1 (SH3 domain protein)
    91(a)
    1 ↔ 1
    3(142784178-142864993)
    African clawed frog
    (Xenopus laevis)
    Amphibia itsn-A2 intersectin 77.5(n)    AF032118.1 
    zebrafish
    (Danio rerio)
    Actinopterygii itsn11 intersectin 1 (SH3 domain protein) 70.11(n)
    79.22(a)
      368504  NM_207182.1  NP_997065.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Dap1601 Dynamin associated protein 160 47.34(n)
    38.15(a)
      35378  NM_001259189.2  NP_001246118.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y116A8C.363
    itsn-11
    itsn-11 34(a)
    (best of 2)3
    44.69(n)1
    34.17(a)1
      IV(17119830-17122230)3
    1784911  NM_001268998.11  NP_001255927.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PAN1(YIR006C)4 Part of actin cytoskeleton-regulatory complex Pan1p-Sla1p-End3p, more   --   9(369908-365466) 854822  NP_012271.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ITSN1 gene
    REPS12  EPS15L12  EHD32  REPS22  EHD22  EHD12  EHD42  EPS152  
    ITSN22  SRL2  
    Selected SIMAP similar genes for ITSN1 using alignment to 30 protein entries:     ITSN1_HUMAN (see all proteins) (see all similar genes):
    ITSN    DKFZp686J17173    GRAPL    GRAP2    SH3GL2    ITSN2
    ARHGEF7    VAV3    KIAA0142    ARHGEF6    EPS15L1    STAC
    PACSIN2    MYO1E    NEBL    NOSTRIN    NCF1B    NCF1C

    Find genes that share paralogs with ITSN1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for ITSN1
    PGOHUM00000235121


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ITSN1 (see all 5004)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs751339351,2
    C,F--25559515(+) TCTCAG/AAGGGT 2 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1838394621,2
    --25559536(+) ATTAAA/TTAATA 2 -- us2k10--------
    rs1180700811,2
    C,F--25559616(+) TTGGGC/TACATC 2 -- us2k11Minor allele frequency- T:0.01EA 120
    rs37613521,2
    C,F,H--25559825(+) tcagaT/Ctttga 2 -- us2k19Minor allele frequency- C:0.22NS EA NA 660
    rs1149315031,2
    F--25559880(+) TTTAAT/CACGAA 2 -- us2k11Minor allele frequency- C:0.03WA 118
    rs1435506331,2
    --25559891(+) GAAAAC/GAACGT 2 -- us2k10--------
    rs1889041731,2
    --25559948(+) TCTCAA/GATATA 2 -- us2k10--------
    rs1930976761,2
    --25559972(+) AACATA/TTAATT 2 -- us2k10--------
    rs1843300821,2
    --25560006(+) TTCACG/TTTTTA 2 -- us2k10--------
    rs1867019871,2
    --25560088(+) AAACCC/TTTCTA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for ITSN1 (35014706 - 35264706 bp, first 250kb of ITSN1)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for ITSN1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2419803CNV Deletion18987734
    esv2723358CNV Deletion23290073
    esv2658286CNV Deletion23128226
    esv2723363CNV Deletion23290073
    esv2723359CNV Deletion23290073
    esv2723360CNV Deletion23290073
    nsv913724CNV Loss21882294
    nsv522214CNV Loss19592680

    Site Specific Mutation Identification with PCR Assays
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    (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.)
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    OMIM gene information: 602442    OMIM disorders: --

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

    Find genes that share disorders with ITSN1           About GenesLikeMe

    1 Novoseek inferred 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

    (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)
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    PubMed articles for ITSN1 gene, integrated from 10 sources (see all 101):
    (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. (Genomics 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. (Eur. J. Hum. Genet. 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. (Biochim. Biophys. Acta 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. (Cytogenet. Cell Genet. 1997)
    5. The clathrin adaptor Dab2 recruits EH domain scaffold proteins to regulate integrin beta1 endocytosis. (PubMed id 22648170)1, 2 Teckchandani A.... Cooper J.A. (Mol. Biol. Cell 2012)
    6. Identification and characterization of a novel mammalian isoform of the endocytic adaptor ITSN1. (PubMed id 21712076)1, 2 Dergai M.... Rynditch A. (Gene 2011)
    7. Structural diversity and differential expression of novel human intersectin 1 isoforms. (PubMed id 19777371)1, 2 Kropyvko S.... Tsyba L. (Mol. Biol. Rep. 2010)
    8. Intersectin 1 forms complexes with SGIP1 and Reps1 in clathrin-coated pits. (PubMed id 20946875)1, 2 Dergai O.... Rynditch A. (Biochem. Biophys. Res. Commun. 2010)
    9. FCHo proteins are nucleators of clathrin-mediated endocytosis. (PubMed id 20448150)1, 2 Henne W.M.... McMahon H.T. (Science 2010)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

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

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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