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ITSN1 Gene(Protein Coding)

Intersectin 1

GCID:
GC21P033642
GIFtS:
60
Genes Participants
UDN Logo

Aliases for ITSN1 Gene

Aliases for ITSN1 Gene

  • Intersectin 1 2 3 5
  • Human Intersectin-SH3 Domain-Containing Protein SH3P17 2 3
  • Src Homology 3 Domain-Containing Protein 2 3
  • Intersectin 1 Short Form Variant 3 2 3
  • Intersectin 1 (SH3 Domain Protein) 2 3
  • SH3 Domain-Containing Protein 1A 3 4
  • Intersectin Short Variant 12 2 3
  • SH3D1A 3 4
  • SH3P17 3 4
  • ITSN 3 4
  • Intersectin 1 Short Form Variant, 11 3
  • Intersectin 1 Short Form Variant 2
  • SH3 Domain Protein-1A 2
  • 11 2

External Ids for ITSN1 Gene

Previous HGNC Symbols for ITSN1 Gene

  • SH3D1A
  • ITSN

Previous GeneCards Identifiers for ITSN1 Gene

  • GC21P031592
  • GC21P033935
  • GC21P033936
  • GC21P035014
  • GC21P020493

Summaries for ITSN1 Gene

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) is a Protein Coding gene. Diseases associated with ITSN1 include tracheomalacia. Among its related pathways are EphB-EphrinB Signaling and Developmental Biology. GO annotations related to this gene include calcium ion binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is EPS15L1.

UniProtKB/Swiss-Prot for ITSN1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITSN1 Gene

Genomics for ITSN1 Gene

Products:

  1. Regulatory Element

Regulatory Elements for ITSN1 Gene

Enhancers for ITSN1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ITSN1 on UCSC Golden Path with GeneCards custom track

Promoters for ITSN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ITSN1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the ITSN1 gene promoter:

Genomic Location for ITSN1 Gene

Chromosome:
21
Start:
33,642,400 bp from pter
End:
33,899,861 bp from pter
Size:
257,462 bases
Orientation:
Plus strand

Genomic View for ITSN1 Gene

Genes around ITSN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITSN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITSN1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ITSN1 Gene

Proteins for ITSN1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for ITSN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15811-ITSN1_HUMAN
    Recommended name:
    Intersectin-1
    Protein Accession:
    Q15811
    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

    Protein attributes for ITSN1 Gene

    Size:
    1721 amino acids
    Molecular mass:
    195422 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAC50592.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ITSN1 Gene

    Alternative splice isoforms for ITSN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ITSN1 Gene

Proteomics data for ITSN1 Gene at MOPED

Protein Expression for ITSN1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ITSN1 Gene

  • Ubiquitination at Lys 658
  • Modification sites at PhosphoSitePlus

Other Protein References for ITSN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ITSN1 Gene

Domains & Families for ITSN1 Gene

Gene Families for ITSN1 Gene

HGNC:

Protein Domains for ITSN1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ITSN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15811

UniProtKB/Swiss-Prot:

ITSN1_HUMAN :
  • 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:
  • 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.
  • The KLERQ domain binds to SNAP-25 and SNAP-23.
  • In an autoinhibited form the SH3 domain 5 may bind intramolecularly to the DH domain, thus blocking the CDC42-binding site.
  • Contains 1 C2 domain.
  • Contains 1 DH (DBL-homology) domain.
  • Contains 2 EF-hand domains.
  • Contains 2 EH domains.
  • Contains 1 PH domain.
  • Contains 5 SH3 domains.
genes like me logo Genes that share domains with ITSN1: view

Function for ITSN1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for ITSN1 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for ITSN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032947 protein complex scaffold IDA 20946875
genes like me logo Genes that share ontologies with ITSN1: view

Phenotypes for ITSN1 Gene

MGI mutant phenotypes for ITSN1:
inferred from 3 alleles
GenomeRNAi human phenotypes for ITSN1:
genes like me logo Genes that share phenotypes with ITSN1: view

Animal Models for ITSN1 Gene

MGI Knock Outs for ITSN1:

Animal Model Products

  • Taconic Biosciences Mouse Models for ITSN1

miRNA for ITSN1 Gene

miRTarBase miRNAs that target ITSN1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ITSN1 Gene

Localization for ITSN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITSN1 Gene

Endomembrane system. Cell junction, synapse, synaptosome. Cell projection, lamellipodium. Membrane, clathrin-coated pit. Note=Colocalizes with SGIP1 at the plasma membrane in structures corresponding most problably to clathrin-coated pits. {ECO:0000305}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ITSN1 Gene COMPARTMENTS Subcellular localization image for ITSN1 gene
Compartment Confidence
cytosol 5
plasma membrane 5
cytoskeleton 2
nucleus 2
endosome 1

Gene Ontology (GO) - Cellular Components for ITSN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0030027 lamellipodium IEA --
genes like me logo Genes that share ontologies with ITSN1: view

Pathways & Interactions for ITSN1 Gene

genes like me logo Genes that share pathways with ITSN1: view

Pathways by source for ITSN1 Gene

1 GeneGo (Thomson Reuters) pathway for ITSN1 Gene
1 Qiagen pathway for ITSN1 Gene

SIGNOR curated interactions for ITSN1 Gene

Activates:

Gene Ontology (GO) - Biological Process for ITSN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035023 regulation of Rho protein signal transduction IEA --
GO:0035556 intracellular signal transduction IEA --
GO:0042327 positive regulation of phosphorylation IEA --
GO:0048013 ephrin receptor signaling pathway TAS --
GO:0051056 regulation of small GTPase mediated signal transduction TAS --
genes like me logo Genes that share ontologies with ITSN1: view

Drugs & Compounds for ITSN1 Gene

Products:

  1. Drug

(1) Drugs for ITSN1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with ITSN1: view

Transcripts for ITSN1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for ITSN1 Gene

(10) REFSEQ mRNAs :
(54) Additional mRNA sequences :
(302) Selected AceView cDNA sequences:
(33) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ITSN1 Gene

Intersectin 1 (SH3 domain protein):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ITSN1 Gene

No ASD Table

Relevant External Links for ITSN1 Gene

GeneLoc Exon Structure for
ITSN1
ECgene alternative splicing isoforms for
ITSN1

Expression for ITSN1 Gene

Products:

  1. Primer

mRNA expression in normal human tissues for ITSN1 Gene

mRNA expression in normal human tissues for ITSN1 Gene
mRNA expression by BioGPS for ITSN1 GenemRNA expression by GTEx for ITSN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ITSN1 Gene

This gene is overexpressed in Heart (25.1) and Brain (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ITSN1 Gene



SOURCE GeneReport for Unigene cluster for ITSN1 Gene Hs.160324

mRNA Expression by UniProt/SwissProt for ITSN1 Gene

Q15811-ITSN1_HUMAN
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.
genes like me logo Genes that share expression patterns with ITSN1: view

Protein tissue co-expression partners for ITSN1 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for ITSN1 Gene

Orthologs for ITSN1 Gene

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

Orthologs for ITSN1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
 Mammalia ITSN1 35
  • 91.48 (n)
  • 96.98 (a)
ITSN1 36
  • 97 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia LOC100856635 35
  • 92.16 (n)
  • 97.21 (a)
-- 36
  • 97 (a)
 OneToMany
-- 36
  • 97 (a)
 OneToMany
mouse
(Mus musculus)
 Mammalia Itsn1 35
  • 88.16 (n)
  • 95.1 (a)
Itsn1 16
Itsn1 36
  • 95 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia ITSN1 35
  • 99.69 (n)
  • 99.88 (a)
ITSN1 36
  • 100 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Itsn1 35
  • 87.95 (n)
  • 94.75 (a)
oppossum
(Monodelphis domestica)
 Mammalia ITSN1 36
  • 94 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia ITSN1 36
  • 90 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ITSN1 35
  • 83.27 (n)
  • 93.24 (a)
ITSN1 36
  • 93 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia ITSN1 36
  • 91 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia itsn1 35
  • 77.29 (n)
  • 87.84 (a)
Str.16169 35
African clawed frog
(Xenopus laevis)
 Amphibia itsn-A 35
zebrafish
(Danio rerio)
 Actinopterygii itsn1 35
  • 70.11 (n)
  • 79.22 (a)
itsn1 36
  • 77 (a)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP009037 35
  • 48.83 (n)
  • 44.19 (a)
fruit fly
(Drosophila melanogaster)
 Insecta Dap160 35
  • 47.34 (n)
  • 38.15 (a)
Dap160 36
  • 34 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea ehs-1 37
  • 26 (a)
Y116A8C.36 37
  • 34 (a)
itsn-1 35
  • 44.69 (n)
  • 34.17 (a)
itsn-1 36
  • 29 (a)
 OneToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes EDE1 36
  • 16 (a)
 OneToMany
PAN1 38
sea squirt
(Ciona savignyi)
 Ascidiacea -- 36
  • 58 (a)
 ManyToMany
-- 36
  • 41 (a)
 ManyToMany
Species with no ortholog for ITSN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ITSN1 Gene

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

Paralogs for ITSN1 Gene

Paralogs for ITSN1 Gene

(41) SIMAP similar genes for ITSN1 Gene using alignment to 30 proteins:

Pseudogenes.org Pseudogenes for ITSN1 Gene

genes like me logo Genes that share paralogs with ITSN1: view

Variants for ITSN1 Gene

Sequence variations from dbSNP and Humsavar for ITSN1 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs187895245 - 33,834,365(+) TCTAA(A/G)CCCTG nc-transcript-variant, reference, missense
rs1108000 -- 33,829,643(-) TATGA(A/G)GCAAT nc-transcript-variant, reference, synonymous-codon
rs1109847 -- 33,857,264(+) CTGGC(C/T)GCTGT intron-variant
rs1109848 -- 33,857,327(+) GGCAA(C/T)GTTTC intron-variant
rs1109849 -- 33,857,371(+) TGATG(C/G)CTCCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ITSN1 Gene

Variant ID Type Subtype PubMed ID
nsv913724 CNV Loss 21882294
esv2658286 CNV Deletion 23128226
nsv522214 CNV Loss 19592680
esv2419803 CNV Deletion 18987734
esv2723358 CNV Deletion 23290073
esv2723359 CNV Deletion 23290073
esv2723360 CNV Deletion 23290073
esv2723363 CNV Deletion 23290073

Variation tolerance for ITSN1 Gene

Residual Variation Intolerance Score: 0.753% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.74; 66.42% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ITSN1 Gene

HapMap Linkage Disequilibrium report
ITSN1
Human Gene Mutation Database (HGMD)
ITSN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITSN1 Gene

Disorders for ITSN1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ITSN1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
tracheomalacia
  • congenital tracheomalacia
- elite association - COSMIC cancer census association via MalaCards
Search ITSN1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ITSN1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ITSN1
genes like me logo Genes that share disorders with ITSN1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ITSN1 Gene

Publications for ITSN1 Gene

  1. Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codon. (PMID: 9799604) Guipponi M. … Antonarakis S.E. (Genomics 1998) 2 3 4 23 67
  2. Intersectin 1 forms a complex with adaptor protein Ruk/CIN85 in vivo independently of epidermal growth factor stimulation. (PMID: 19166927) Nikolaienko O. … Rynditch A. (Cell. Signal. 2009) 3 23
  3. Alternative splicing affecting the SH3A domain controls the binding properties of intersectin 1 in neurons. (PMID: 18539136) Tsyba L. … Rynditch A. (Biochem. Biophys. Res. Commun. 2008) 3 23
  4. SHIP2 associates with intersectin and recruits it to the plasma membrane in response to EGF. (PMID: 18692052) Xie J. … Pirson I. (FEBS Lett. 2008) 3 23
  5. Alzheimer's disease and endocytic dysfunction: clues from the Down syndrome-related proteins, DSCR1 and ITSN1. (PMID: 16442855) Keating D.J. … Pritchard M.A. (Ageing Res. Rev. 2006) 3 23

Products for ITSN1 Gene

Sources for ITSN1 Gene

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