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Aliases for ITSN1 Gene

Aliases for ITSN1 Gene

  • Intersectin 1 (SH3 Domain Protein) 2 3
  • SH3D1A 3 4 6
  • SH3P17 3 4 6
  • 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
  • SH3 Domain-Containing Protein 1A 3 4
  • Intersectin Short Variant 12 2 3
  • ITSN 3 4
  • Intersectin 1 Short Form Variant, 11 3
  • Intersectin 1 Short Form Variant 2
  • SH3 Domain Protein-1A 2
  • Intersectin-1 3
  • 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 (SH3 Domain Protein)) is a Protein Coding gene. Among its related pathways are Signaling by FGFR and Signaling by GPCR. GO annotations related to this gene include calcium ion binding and guanyl-nucleotide exchange factor activity. An important paralog of this gene is EHD1.

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

Regulatory Elements for ITSN1 Gene

Genomic Location for ITSN1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ITSN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITSN1 Gene

Proteins for ITSN1 Gene

  • 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

neXtProt entry for ITSN1 Gene

Proteomics data for ITSN1 Gene at MOPED

Post-translational modifications for ITSN1 Gene

  • Ubiquitination at Lys658
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for ITSN1 Gene

Domains for ITSN1 Gene

Gene Families for ITSN1 Gene

HGNC:
  • ARHGEF :Rho guanine nucleotide exchange factors
  • EFHAND :EF-hand domain containing
  • PLEKH :Pleckstrin homology (PH) domain containing

Graphical View of Domain Structure for InterPro Entry

Q15811

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.
  • 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

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:0005085 guanyl-nucleotide exchange factor activity NAS 9799604
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA --
GO:0005509 calcium ion binding NAS 9799604
GO:0005515 protein binding IPI 12006984
GO:0019209 kinase activator activity IEA --
genes like me logo Genes that share ontologies with ITSN1: view
genes like me logo Genes that share phenotypes with ITSN1: view

Animal Models for ITSN1 Gene

MGI Knock Outs for ITSN1:

Animal Model Products

miRNA for ITSN1 Gene

miRTarBase miRNAs that target ITSN1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ITSN1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
plasma membrane 5
cytosol 4
cytoskeleton 2
nucleus 2

Gene Ontology (GO) - Cellular Components for ITSN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA --
GO:0005905 coated pit IDA 20946875
GO:0030027 lamellipodium IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with ITSN1: view

Pathways for ITSN1 Gene

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

Pathways by source for ITSN1 Gene

Gene Ontology (GO) - Biological Process for ITSN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0007411 axon guidance TAS --
GO:0035023 regulation of Rho protein signal transduction --
GO:0042327 positive regulation of phosphorylation IEA --
GO:0043065 positive regulation of apoptotic process TAS --
genes like me logo Genes that share ontologies with ITSN1: view

Compounds for ITSN1 Gene

(1) Novoseek inferred chemical compound relationships for ITSN1 Gene

Compound -log(P) Hits PubMed IDs
tyrosine 17.5 1
genes like me logo Genes that share compounds with ITSN1: view

Transcripts for ITSN1 Gene

Unigene Clusters for ITSN1 Gene

Intersectin 1 (SH3 domain protein):
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ITSN1

Primer 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

mRNA expression in normal human tissues for ITSN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for ITSN1 Gene

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

Integrated Proteomics: protein expression 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 expressions with ITSN1: view

Expression partners for ITSN1 Gene

In Situ Assay 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

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 MAF
rs13640 -- 33,837,948(+) TTCCA(A/G)TTACT utr-variant-3-prime, intron-variant, nc-transcript-variant
rs729960 -- 33,824,663(+) GGGAG(C/T)GAGGC intron-variant
rs730312 -- 33,823,929(+) GCTCT(C/T)TTCCT intron-variant
rs732687 -- 33,879,703(+) GAGAC(A/G)GAGTC intron-variant
rs743314 -- 33,855,751(-) CATCA(C/T)GGAGG 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

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

(1) University of Copenhagen DISEASES for ITSN1 Gene

(1) Novoseek inferred disease relationships for ITSN1 Gene

Disease -log(P) Hits PubMed IDs
down syndrome 54.7 4
genes like me logo Genes that share disorders with ITSN1: view

No data available for MalaCards , OMIM , UniProtKB/Swiss-Prot , Genatlas and External Links 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
  2. The SH3D1A gene maps to human chromosome 21q22.1-->q22.2. (PMID: 9465890) Chen H. … Antonarakis S.E. (Cytogenet. Cell Genet. 1997) 3 4 23
  3. Alu-splice cloning of human intersectin (ITSN), a putative multivalent binding protein expressed in proliferating and differentiating neurons and overexpressed in Down syndrome. (PMID: 10482960) Pucharcos C. … Pritchard M. (Eur. J. Hum. Genet. 1999) 3 4 23
  4. The human intersectin genes and their spliced variants are differentially expressed. (PMID: 11690630) Pucharcos C. … de la Luna S. (Biochim. Biophys. Acta 2001) 3 4 23
  5. Stonin 2: an adaptor-like protein that interacts with components of the endocytic machinery. (PMID: 11381094) Martina J.A. … Bonifacino J.S. (J. Cell Biol. 2001) 3 23

Products for ITSN1 Gene

Sources for ITSN1 Gene

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