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, SN... See more...

Aliases for ITSN1 Gene

Aliases for ITSN1 Gene

  • Intersectin 1 2 3 5
  • SH3P17 2 3 4
  • Human Intersectin-SH3 Domain-Containing Protein SH3P17 2 3
  • Src Homology 3 Domain-Containing Protein 2 3
  • Intersectin 1 Short Form Variant, 11 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
  • Intersectin-1 3 4
  • SH3D1A 3 4
  • ITSN 3 4
  • SH3 Domain Protein-1A 2
  • MGC134948 2
  • MGC134949 2
  • ITSN1 5

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 Vaccinia and Schizophrenia 1. Among its related pathways are p75 NTR receptor-mediated signalling and Clathrin-mediated endocytosis. Gene Ontology (GO) annotations related to this gene include calcium ion binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ITSN2.

UniProtKB/Swiss-Prot Summary for ITSN1 Gene

  • Adapter protein that provides a link between the endocytic membrane traffic and the actin assembly machinery (PubMed:11584276, PubMed:29887380). Acts as guanine nucleotide exchange factor (GEF) for CDC42, and thereby stimulates actin nucleation mediated by WASL and the ARP2/3 complex (PubMed:11584276). Plays a role in the assembly and maturation of clathrin-coated vesicles (By similarity). Recruits FCHSD2 to clathrin-coated pits (PubMed:29887380). Involved in endocytosis of activated EGFR, and probably also other growth factor receptors (By similarity). 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 (PubMed:22648170). Promotes ubiquitination and subsequent degradation of EGFR, and thereby contributes to the down-regulation of EGFR-dependent signaling pathways. In chromaffin cells, required for normal exocytosis of catecholamines. Required for rapid replenishment of release-ready synaptic vesicles at presynaptic active zones (By similarity). Inhibits ARHGAP31 activity toward RAC1 (PubMed:11744688).
  • [Isoform 1]: Plays a role in synaptic vesicle endocytosis in brain neurons.

Gene Wiki entry for ITSN1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ITSN1 Gene

Genomics for ITSN1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ITSN1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ITSN1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ITSN1

Top Transcription factor binding sites by QIAGEN in the ITSN1 gene promoter:
  • AREB6
  • FOXD1
  • FOXO3
  • FOXO3a
  • ITF-2
  • p53
  • S8
  • STAT5A
  • Tal-1beta
  • TBP

Genomic Locations for ITSN1 Gene

Latest Assembly
chr21:33,642,400-33,899,861
(GRCh38/hg38)
Size:
257,462 bases
Orientation:
Plus strand

Previous Assembly
chr21:35,014,807-35,272,165
(GRCh37/hg19 by Entrez Gene)
Size:
257,359 bases
Orientation:
Plus strand

chr21:35,014,706-35,272,165
(GRCh37/hg19 by Ensembl)
Size:
257,460 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 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
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Interacts (via DH domain) with CDC42 (PubMed:11584276, PubMed:12006984). Interacts (via SH3 domain 1) with WASL (PubMed:11584276). Interacts with dynamin, SNAP25 and SNAP23 (By similarity). Interacts with clathrin-associated proteins and other components of the endocytic machinery, such as SPIN90, EPS15, EPN1, EPN2, STON2, FCHO1, FCHO2 and DAB2 (PubMed:20448150, PubMed:22484487, PubMed:22648170). Interacts (via SH3 domains) with REPS1 and SGIP1 (PubMed:20946875). Interacts with ARHGAP31 (PubMed:11744688). Interacts with ADAM15 (PubMed:19718658). Interacts with PRRT2 (By similarity). Interacts (via SH3 domain 4) with FCHSD2 (via SH3 domain 2) (PubMed:29887380). Interacts (via SH3 domain 1) with DENND2B (PubMed:29030480). Interacts (via SH3 domains) with CBL (By similarity). Isoform 2: Interacts with CBL and DNM1 (PubMed:21712076). Isoform 2: Interacts with LMNA (PubMed:29599122). Isoform 2: Interacts with importin subunit KPNA1; this is likely to mediate its import into the nucleus (PubMed:29599122).
    • (Microbial infection) Interacts with vaccinia virus protein A36 (PubMed:27670116).
    SequenceCaution:
    • Sequence=AAC50592.1; Type=Erroneous initiation; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 6]: Contains a premature stop codon, potentially subjected to NMD.
    • [Isoform 13]: Contains a premature stop codon, potentially subjected to NMD.

    Three dimensional structures from OCA and Proteopedia for ITSN1 Gene

    Alternative splice isoforms for ITSN1 Gene

neXtProt entry for ITSN1 Gene

Post-translational modifications for ITSN1 Gene

  • Ubiquitination at Lys658
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ITSN1 Gene

Domains & Families for ITSN1 Gene

Gene Families for ITSN1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ITSN1 Gene

InterPro:
Blocks:
  • SH3 domain signature
  • C2 domain
  • Pleckstrin-like
  • DH domain
  • EPS15 homology (EH)

Suggested Antigen Peptide Sequences for ITSN1 Gene

GenScript: Design optimal peptide antigens:
  • Intersectin 1 short form variant 4 (A7XZY7_HUMAN)
  • Intersectin 1 short form variant 10 (A8CTY7_HUMAN)
  • Intersectin 1 short form variant 13 (A8CTZ0_HUMAN)
  • Intersectin 1 short form variant 3 (A8D7D0_HUMAN)
  • Intersectin short variant 12 (A8W608_HUMAN)

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.
genes like me logo Genes that share domains with ITSN1: view

Function for ITSN1 Gene

Molecular function for ITSN1 Gene

UniProtKB/Swiss-Prot Function:
Adapter protein that provides a link between the endocytic membrane traffic and the actin assembly machinery (PubMed:11584276, PubMed:29887380). Acts as guanine nucleotide exchange factor (GEF) for CDC42, and thereby stimulates actin nucleation mediated by WASL and the ARP2/3 complex (PubMed:11584276). Plays a role in the assembly and maturation of clathrin-coated vesicles (By similarity). Recruits FCHSD2 to clathrin-coated pits (PubMed:29887380). Involved in endocytosis of activated EGFR, and probably also other growth factor receptors (By similarity). 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 (PubMed:22648170). Promotes ubiquitination and subsequent degradation of EGFR, and thereby contributes to the down-regulation of EGFR-dependent signaling pathways. In chromaffin cells, required for normal exocytosis of catecholamines. Required for rapid replenishment of release-ready synaptic vesicles at presynaptic active zones (By similarity). Inhibits ARHGAP31 activity toward RAC1 (PubMed:11744688).
UniProtKB/Swiss-Prot Function:
[Isoform 1]: Plays a role in synaptic vesicle endocytosis in brain neurons.

Phenotypes From GWAS Catalog for ITSN1 Gene

Gene Ontology (GO) - Molecular Function for ITSN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IEA,NAS 9799604
GO:0005509 calcium ion binding NAS 9799604
GO:0005515 protein binding IPI 10064583
GO:0046872 metal ion binding IEA --
GO:0060090 molecular adaptor activity IDA 20946875
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 Models for research

  • Taconic Biosciences Mouse Models for ITSN1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ITSN1

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. Cell membrane. Membrane, clathrin-coated pit. Recycling endosome. Endosome. Cytoplasmic vesicle. Note=Colocalizes with SGIP1 at the plasma membrane in structures corresponding most probably to clathrin-coated pits (PubMed:20946875). Colocalizes with RAB13 on cytoplasmic vesicles that are most likely recycling endosomes (PubMed:29030480). {ECO:0000269 PubMed:20946875, ECO:0000269 PubMed:29030480}.
[Isoform 2]: Cytoplasm. Endomembrane system. Nucleus envelope. Note=Shuttles between the cytoplasm and nucleus in an XPO1/CRM1-dependent manner. {ECO:0000269 PubMed:29599122}.
[Isoform 5]: Endomembrane system.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ITSN1 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
endosome 4
cytoskeleton 3
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ITSN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope IEA --
GO:0005737 cytoplasm IEA,IBA 21873635
GO:0005768 endosome IEA --
GO:0005829 cytosol TAS --
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
  • Cell adhesion Ephrins signaling
1 Qiagen pathway for ITSN1 Gene
  • EphB-EphrinB Signaling

SIGNOR curated interactions for ITSN1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for ITSN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006887 exocytosis IEA --
GO:0006897 endocytosis IBA 21873635
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0007420 brain development IEA --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with ITSN1: view

Drugs & Compounds for ITSN1 Gene

(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

mRNA/cDNA for ITSN1 Gene

7 REFSEQ mRNAs :
59 NCBI additional mRNA sequence :
32 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ITSN1

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

No ASD Table

Relevant External Links for ITSN1 Gene

GeneLoc Exon Structure for
ITSN1

Expression for ITSN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for ITSN1 Gene



Protein tissue co-expression partners for ITSN1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ITSN1

SOURCE GeneReport for Unigene cluster for ITSN1 Gene:

Hs.160324

mRNA Expression by UniProt/SwissProt for ITSN1 Gene:

Q15811-ITSN1_HUMAN
Tissue specificity: Isoform 1 is expressed almost exclusively in the brain. Isoform 2 is detected in brain, spleen, lung, liver, heart, skeletal muscle and kidney. Isoform 5 is primarily expressed in brain, spleen, lung and kidney (at protein level) (PubMed:21712076). Isoform 1 and isoform 2 are detected in brain (PubMed:10482960). 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 (PubMed:9799604, PubMed:21712076, PubMed:11690630).

Evidence on tissue expression from TISSUES for ITSN1 Gene

  • Nervous system(4.8)
  • Lung(4.5)
  • Kidney(4.5)
  • Liver(4.4)
  • Bone marrow(4.1)
  • Heart(2.5)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with ITSN1: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
Mammalia ITSN1 29 30
  • 99.69 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia -- 30
  • 97 (a)
OneToMany
-- 30
  • 97 (a)
OneToMany
LOC100856635 29
  • 92.16 (n)
Oppossum
(Monodelphis domestica)
Mammalia ITSN1 30
  • 94 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia ITSN1 29 30
  • 91.48 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ITSN1 30
  • 90 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Itsn1 29 16 30
  • 88.16 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Itsn1 29
  • 87.95 (n)
Chicken
(Gallus gallus)
Aves ITSN1 29 30
  • 83.27 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ITSN1 30
  • 91 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia itsn1 29
  • 77.29 (n)
Str.16169 29
African clawed frog
(Xenopus laevis)
Amphibia itsn-A 29
Zebrafish
(Danio rerio)
Actinopterygii itsn1 29 30
  • 70.11 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009037 29
  • 48.83 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Dap160 29 30
  • 47.34 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea itsn-1 29 30
  • 44.69 (n)
OneToMany
Y116A8C.36 31
  • 34 (a)
ehs-1 31
  • 26 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EDE1 30
  • 16 (a)
OneToMany
PAN1 32
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 58 (a)
ManyToMany
-- 30
  • 41 (a)
ManyToMany
Species where no ortholog for ITSN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ITSN1: view image
Alliance of Genome Resources:
Additional Orthologs for ITSN1

Paralogs for ITSN1 Gene

Paralogs for ITSN1 Gene

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

  • ITSN1_HUMAN
  • A7XZY7_HUMAN
  • A8CTZ0_HUMAN
  • A8W608_HUMAN
  • C9J1A4_HUMAN
  • C9JQZ7_HUMAN
  • C9JXS9_HUMAN
  • D6PAV9_HUMAN
  • D6PAW0_HUMAN
  • D6PAW2_HUMAN
  • E9PD98_HUMAN
  • F8W7U0_HUMAN
  • H0Y3G5_HUMAN
  • H0Y523_HUMAN
  • H0Y6W3_HUMAN
  • H0Y7J7_HUMAN
  • H7C3F1_HUMAN
  • H7C429_HUMAN
  • Q0PW96_HUMAN
  • Q14BD4_HUMAN
  • Q2LAE2_HUMAN
  • Q6GMY7_HUMAN
  • Q6J1T1_HUMAN
  • Q6J1T2_HUMAN
  • Q6J333_HUMAN
  • Q6J334_HUMAN
  • Q6PD56_HUMAN
  • Q7Z452_HUMAN
  • Q7Z453_HUMAN
  • Q86VI9_HUMAN

Pseudogenes.org Pseudogenes for ITSN1 Gene

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

Variants for ITSN1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ITSN1 Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
872807 Uncertain Significance: not provided 33,755,396(+) A/G
NM_003024.3(ITSN1):c.723A>G (p.Thr241=)
SYNONYMOUS
916563 Likely Pathogenic: Tracheoesophageal fistula 33,882,282(+) C/T
NM_003024.3(ITSN1):c.4381C>T (p.Arg1461Cys)
MISSENSE
985623 Uncertain Significance: Inborn genetic diseases 33,799,816(+) C/T
NM_003024.3(ITSN1):c.2191C>T (p.Pro731Ser)
MISSENSE
rs112319566 Benign: not provided 33,775,078(+) C/T
NM_003024.3(ITSN1):c.1566C>T (p.Ala522=)
SYNONYMOUS
rs115178190 Benign: not provided 33,767,703(+) G/A
NM_003024.3(ITSN1):c.927-10G>A
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ITSN1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv2382n106 CNV deletion 24896259
esv2419803 CNV deletion 18987734
esv2658286 CNV deletion 23128226
esv2723358 CNV deletion 23290073
esv2723359 CNV deletion 23290073
esv2723360 CNV deletion 23290073
esv2723363 CNV deletion 23290073
esv2762108 CNV loss 21179565
esv3325016 CNV insertion 20981092
esv3557656 CNV deletion 23714750
esv3646910 CNV loss 21293372
esv3893407 CNV loss 25118596
nsv1059744 CNV loss 25217958
nsv1072172 CNV deletion 25765185
nsv1114287 CNV deletion 24896259
nsv1117932 CNV deletion 24896259
nsv1139018 CNV deletion 24896259
nsv1144947 CNV deletion 24896259
nsv522214 CNV loss 19592680
nsv587399 CNV gain 21841781
nsv587400 CNV loss 21841781

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)

Additional Variant Information for ITSN1 Gene

Human Gene Mutation Database (HGMD)
ITSN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ITSN1
Leiden Open Variation Database (LOVD)
ITSN1

SNP Genotyping and Copy Number Assays for research

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

Disorders for ITSN1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ITSN1 Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards
Search ITSN1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 SE (Genomics 1998) 2 3 4 22
  2. The human intersectin genes and their spliced variants are differentially expressed. (PMID: 11690630) Pucharcos C … de la Luna S (Biochimica et biophysica acta 2001) 3 4 22
  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) Pucharcós C … Pritchard M (European journal of human genetics : EJHG 1999) 3 4 22
  4. The SH3D1A gene maps to human chromosome 21q22.1-->q22.2. (PMID: 9465890) Chen H … Antonarakis SE (Cytogenetics and cell genetics 1997) 3 4 22
  5. A Flat BAR Protein Promotes Actin Polymerization at the Base of Clathrin-Coated Pits. (PMID: 29887380) Almeida-Souza L … McMahon HT (Cell 2018) 3 4

Products for ITSN1 Gene

Sources for ITSN1 Gene