Aliases for ITSN1 Gene
Aliases for ITSN1 Gene
External Ids for ITSN1 Gene
- HGNC: 6183
- Entrez Gene: 6453
- Ensembl: ENSG00000205726
- OMIM: 602442
- UniProtKB: Q15811
Previous HGNC Symbols for ITSN1 Gene
- SH3D1A
- ITSN
Previous GeneCards Identifiers for ITSN1 Gene
- GC21P031592
- GC21P033935
- GC21P033936
- GC21P035014
- GC21P020493
Summaries 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 Retinitis Pigmentosa 58. Among its related pathways are p75 NTR receptor-mediated signalling and EPH-Ephrin signaling. 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 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.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITSN1 Gene
Genomics for ITSN1 Gene
GeneHancer (GH) Regulatory Elements for ITSN1 Gene
Promoters and enhancers for ITSN1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around ITSN1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for ITSN1 Gene
Genomic Locations for ITSN1 Gene
- chr21:33,642,400-33,899,861
- (GRCh38/hg38)
- Size:
- 257,462 bases
- Orientation:
- Plus strand
- chr21:35,014,706-35,272,165
- (GRCh37/hg19)
Genomic View for ITSN1 Gene
Genes around ITSN1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 21q22.11 by Ensembl
- 21q22.11 by Entrez Gene
- 21q22.11 by HGNC
ITSN1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
- (Microbial infection) Interacts with vaccinia virus protein A36 (PubMed:27670116).
- SequenceCaution:
-
- Sequence=AAC50592.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for ITSN1 Gene
Protein Expression for ITSN1 Gene
Post-translational modifications for ITSN1 Gene
- Ubiquitination at isoforms=10, 11, 12, 13, 2, 3, 4, 5, 6, 7, 8, 9658
Other Protein References for ITSN1 Gene
- ENSEMBL proteins:
-
- ENSP00000369294
- ENSP00000370683
- ENSP00000370684
- ENSP00000370685
- ENSP00000370691
- ENSP00000382275
- ENSP00000382286
- ENSP00000382289
- ENSP00000382290
- ENSP00000382292
- ENSP00000382301
- ENSP00000396054
- ENSP00000400079
- ENSP00000407132
- ENSP00000408319
- ENSP00000409800
- ENSP00000411464
- ENSP00000413290
- ENSP00000415302
- ENSP00000370719
- REFSEQ proteins:
-
- NP_001001132.1
- NP_001317937.1
- NP_001317938.1
- NP_001317939.1
- NP_001317940.1
- NP_001317941.1
- NP_003015.2
- XP_005261083.1
- XP_005261084.1
- XP_005261088.1
- XP_011527993.1
- XP_011527994.1
- XP_011527995.1
- XP_016883917.1
- XP_016883918.1
- XP_016883919.1
- XP_016883920.1
- XP_016883921.1
- XP_016883922.1
- XP_016883923.1
- XP_016883924.1
- XP_016883925.1
- XP_016883926.1
- XP_016883927.1
- XP_016883928.1
- XP_016883929.1
- XP_016883930.1
Antibody Products
- Novus Biologicals Antibodies for ITSN1
-
Abcam antibodies for ITSN1
- Invitrogen Antibodies for ITSN1
- Search GeneTex for Antibodies for ITSN1
Protein Products
-
OriGene Purified Proteins for ITSN1
- Search Origene for MassSpec and Protein Over-expression Lysates for ITSN1
- Origene Custom Protein Services for ITSN1
- Search GeneTex for Proteins for ITSN1
Assay Products
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
Suggested Antigen Peptide Sequences for ITSN1 Gene
Graphical View of Domain Structure for InterPro Entry
Q15811UniProtKB/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.
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.
Phenotypes From GWAS Catalog for ITSN1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005085 | guanyl-nucleotide exchange factor activity | TAS | -- |
| GO:0005089 | Rho guanyl-nucleotide exchange factor activity | TAS | -- |
| GO:0005509 | calcium ion binding | NAS | 9799604 |
| GO:0005515 | protein binding | IPI | 10064583 |
| GO:0005524 | ATP binding | IEA | -- |
Phenotypes for ITSN1 Gene
- MGI mutant phenotypes for ITSN1:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for ITSN1:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for ITSN1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for ITSN1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ITSN1 gene
- Search ViGene Biosciences for ITSN1
CRISPR Products
-
OriGene CRISPR knockouts for ITSN1
- genomics-online: gRNA clones - Search results for 114 available ITSN1 gene related products
- Overview of 114 available ITSN1 gene related products
- Applied Biological Materials CRISPR for ITSN1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ITSN1
- GenScript: Design CRISPR guide RNA sequences for ITSN1
miRNA for ITSN1 Gene
- miRTarBase miRNAs that target ITSN1
miRNA Products
- Search ViGene Biosciences for ITSN1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for ITSN1
- Browse OriGene Inhibitory RNA Products For ITSN1
- genomics-online: shRNA clones - Search results for 114 available ITSN1 gene related products
- Overview of 114 available ITSN1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for ITSN1 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for ITSN1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ITSN1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for ITSN1
- Applied Biological Materials Clones for ITSN1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for ITSN1
-
ViGene Biosciences adenoviral particle packaged cDNA for ITSN1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for ITSN1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ITSN1 gene
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 probably to clathrin-coated pits. {ECO:0000305}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytosol | 5 |
| cytoskeleton | 2 |
| nucleus | 2 |
| endosome | 1 |
- Plasma membrane (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005829 | cytosol | TAS | -- |
| GO:0005886 | plasma membrane | IDA | 20946875 |
| GO:0005905 | clathrin-coated pit | IEA,IDA | 20946875 |
| GO:0012505 | endomembrane system | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for ITSN1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | p75 NTR receptor-mediated signalling |
.36
|
|
| 2 | EPH-Ephrin signaling | ||
| 3 | Signaling by GPCR | ||
| 4 | Developmental Biology |
.51
|
|
| 5 | Clathrin-mediated endocytosis | ||
Pathways by source for ITSN1 Gene
3 BioSystems pathways for ITSN1 Gene
18 Reactome pathways for ITSN1 Gene
1 GeneGo (Thomson Reuters) pathway for ITSN1 Gene
1 Qiagen pathway for ITSN1 Gene
Interacting Proteins for ITSN1 Gene
Selected Interacting proteins:
ENSP00000370719
Q15811-ITSN1_HUMAN
for ITSN1 Gene via
STRING
MINT
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006750 | glutathione biosynthetic process | IEA | -- |
| GO:0006897 | endocytosis | IEA | -- |
| GO:0007186 | G-protein coupled receptor signaling pathway | TAS | -- |
| GO:0007264 | small GTPase mediated signal transduction | IEA | -- |
| GO:0016032 | viral process | IEA | -- |
Transcripts for ITSN1 Gene
mRNA/cDNA for ITSN1 Gene
- (27) REFSEQ mRNAs :
- (54) Additional mRNA sequences :
- (302) Selected AceView cDNA sequences:
- (32) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ITSN1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ITSN1
- genomics-online: gRNA clones - Search results for 114 available ITSN1 gene related products
- Overview of 114 available ITSN1 gene related products
- Applied Biological Materials CRISPR for ITSN1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ITSN1
- GenScript: Design CRISPR guide RNA sequences for ITSN1
miRNA Products
- Search ViGene Biosciences for ITSN1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for ITSN1
- Browse OriGene Inhibitory RNA Products For ITSN1
- genomics-online: shRNA clones - Search results for 114 available ITSN1 gene related products
- Overview of 114 available ITSN1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for ITSN1 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for ITSN1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ITSN1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for ITSN1
- Applied Biological Materials Clones for ITSN1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for ITSN1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
-
Blood (Hematopoietic System)
- pre Conventional Dendritic Cells Peripheral Blood
- Erythroblasts Hematopoietic Bone Marrow
- Gut Tube (Gastrointestinal Tract)
- Eye (Sensory Organs)
-
Dermis (Integumentary System)
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of ITSN1 Gene:
ITSN1SOURCE GeneReport for Unigene cluster for ITSN1 Gene:
Hs.160324mRNA 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.
Evidence on tissue expression from TISSUES for ITSN1 Gene
- Nervous system(4.8)
- Lung(4.5)
- Kidney(4.3)
- Liver(4.3)
- Bone marrow(4.1)
- Heart(2.2)
Primer Products
-
OriGene qPCR primer pairs for ITSN1
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ITSN1 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| ITSN1 33 |
|
||||
| oppossum (Monodelphis domestica) |
Mammalia | ITSN1 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | ITSN1 33 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ITSN1 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Itsn1 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Itsn1 33 |
|
||
| chicken (Gallus gallus) |
Aves | ITSN1 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | ITSN1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | itsn1 33 |
|
||
| Str.16169 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | itsn-A 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | itsn1 33 34 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009037 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Dap160 33 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | itsn-1 33 34 |
|
||
| Y116A8C.36 35 |
|
|
|||
| ehs-1 35 |
|
|
|||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | EDE1 34 |
|
OneToMany | |
| PAN1 36 |
|
|
|||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
ManyToMany | |
| -- 34 |
|
ManyToMany |
- Species where no ortholog for ITSN1 was found in the sources mined by GeneCards:
-
- 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)
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
Variants for ITSN1 Gene
| SNP ID | Clin | Chr 21 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs755276554 | likely-pathogenic, Inborn genetic diseases | 33,799,852(+) | G/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs1000006064 | -- | 33,854,874(+) | T/G | genic_downstream_transcript_variant, intron_variant | |
| rs1000036313 | -- | 33,748,204(+) | G/A | intron_variant | |
| rs1000036662 | -- | 33,725,764(+) | C/T | genic_upstream_transcript_variant, intron_variant | |
| rs1000044022 | -- | 33,896,360(+) | C/T | 3_prime_UTR_variant, genic_downstream_transcript_variant |
| 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITSN1 Gene
Disorders for ITSN1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| vaccinia |
|
|
| retinitis pigmentosa 58 |
|
|
| down syndrome |
|
Search ITSN1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for ITSN1
No data available for UniProtKB/Swiss-Prot and Genatlas for ITSN1 Gene
Publications for ITSN1 Gene
- 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 58
- 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 58
- 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 58
- 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 58
- NPF motifs in the vaccinia virus protein A36 recruit intersectin-1 to promote Cdc42:N-WASP-mediated viral release from infected cells. (PMID: 27670116) Snetkov X … Way M (Nature microbiology 2016) 3 4 58
Products for ITSN1 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Browse OriGene Antibodies
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for ITSN1
- Search Origene for MassSpec and Protein Over-expression Lysates for ITSN1
- Origene Custom Protein Services for ITSN1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ITSN1
- Browse OriGene Inhibitory RNA Products For ITSN1
- OriGene qPCR primer pairs for ITSN1
- OriGene CRISPR knockouts for ITSN1
- OriGene ORF clones in human for ITSN1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ITSN1
- GenScript: Next-day shipping of latest version cDNA ORF clones for ITSN1 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for ITSN1
- GenScript Custom Assay Services for ITSN1
- GenScript Custom overexpressing Cell Line Services for ITSN1
- GenScript: Design CRISPR guide RNA sequences for ITSN1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for ITSN1
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for ITSN1
- Novus Biologicals proteins and lysates for ITSN1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for ITSN1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Browse Antibodies at Cloud-Clone Corp.
- Browse Proteins at Cloud-Clone Corp.
- Browse Assay Kits at Cloud-Clone Corp.
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for ITSN1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Cyagen custom Knockout/knockin (KOKI) mouse models for ITSN1
- VectorBuilder custom plasmid, inducible vectors for ITSN1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ITSN1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for ITSN1
- antibodies-online: Search results for 17 available ITSN1 Antibodies ranked by validation data
- Compare Top ITSN1 Antibodies
- antibodies-online: Search results for 3 available ITSN1 Elisa Kits ranked by validation data
- Compare Top ITSN1 Elisa Kits
- antibodies-online: Search results for available ITSN1 related products ranked by validation data
- Search GeneTex for Antibodies for ITSN1
- Search GeneTex for Proteins for ITSN1
- ViGene Biosciences adenoviral particle packaged cDNA for ITSN1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for ITSN1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for ITSN1 gene
- Search ViGene Biosciences for ITSN1
- Horizon Cell Lines for ITSN1
- genomics-online: cdna clones - Search results for 114 available ITSN1 gene related products
- Overview of 114 available ITSN1 gene related products
- orf clones - Search results for 114 available ITSN1 gene related products
- Overview of 114 available ITSN1 gene related products
- genomics-online: gRNA clones - Search results for 114 available ITSN1 gene related products
- Overview of 114 available ITSN1 gene related products
- genomics-online: primer clones - Search results for 114 available ITSN1 gene related products
- Overview of 114 available ITSN1 gene related products
- genomics-online: shRNA clones - Search results for 114 available ITSN1 gene related products
- Overview of 114 available ITSN1 gene related products
Sources for ITSN1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew