ITSN1 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
ITSN1
Official Name
intersectin 1 [Source:HGNC Symbol;Acc:HGNC:6183]
Ensembl ID
ENSG00000205726
Bio databases IDs NCBI: 6453 Ensembl: ENSG00000205726
Aliases intersectin 1, SH3 domain protein-1A, human intersectin-SH3 domain-containing protein SH3P17, Src homology 3 domain-containing protein
Synonyms AI839402, AI848451, EHSH1, Ese1, INTERSECTIN, Intersectin 1, intersectin 1 (SH3 domain protein 1A), ITSN, LOC100911851, SH3D1A, SH3 domain protein-1A, SH3P17
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ITSN1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Coiled-coil domain-containing protein 3
  • Arginine and glutamate-rich 1
  • RIB43A
  • coiled-coil domain
  • Type III secretion protein YscO
  • Chromatin assembly factor 1 complex p150 subunit, N-terminal
  • ClassIIa_HDAC_Gln-rich-N
  • PH domain
  • iSH2_PI3K_IA_R
  • Dbl homology domain
  • Centrosomal protein of 63 kDa
  • C2 domain
  • Cortexillin I, coiled coil
  • Crescentin protein
  • RNase Y N-terminal region
  • Ezrin/radixin/moesin, alpha-helical domain
  • Hyaluronan mediated motility receptor N-terminal
  • EF-hand domain pair
  • Intersectin and clathrin adaptor AP2 binding region
  • EFh
  • protein binding
  • Pleckstrin homology-like domain
  • Calcium binding and coiled-coil domain (CALCOCO1) like
  • TolA protein
  • RhoGEF domain
  • Src Homology 3 domain superfamily
  • Domain of unknown function (DUF4659)
  • RhoGEF
  • Domain of unknown function (DUF4686)
  • flagellar export protein FliJ
  • Apg6 coiled-coil region
  • MAP7 (E-MAP-115) family
  • Trichohyalin-plectin-homology domain
  • guanyl-nucleotide exchange factor
  • kinase activator
  • Eps15 homology domain
  • Protein kinase C conserved region 2 (CalB)
  • Pleckstrin homology domain
  • Cytoskeletal-regulatory complex EF hand
  • Coiled-coil domain-containing protein 66

Pathways

Biological processes and signaling networks where the ITSN1 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • neoplasia
  • hereditary disorder
  • neurodevelopmental disorder
  • diabetic nephropathy
  • schizophrenia
  • pulmonary hypertensive arterial disease
  • growth failure
  • diabetic retinopathy
  • Down syndrome
  • autosomal dominant mental retardation type 1
regulated by
regulates
role in cell
  • apoptosis
  • growth
  • activation in
  • proliferation
  • phosphorylation in
  • migration
  • adhesion
  • colony formation
  • rearrangement
  • disorganization

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • synaptic plasma membrane fractions
  • membrane fraction
  • presynaptic active zone
  • glutaminergic synapse
  • exocytotic site
  • intracellular membrane-bounded organelle
  • cytoskeleton
  • cell periphery
  • cellular membrane
  • actin cytoskeleton
  • Plasma Membrane
  • vesicles
  • cytosol
  • nuclear envelope
  • dendritic spines
  • synaptic vesicles
  • synaptosomes
  • endocytotic vesicle
  • clathrin-coated pits
  • perikaryon
  • axon terminals
  • clathrin-coated vesicles
  • lamellipodia
  • apical processes
  • cytosolic fraction

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human ITSN1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • regulation of small GTPase mediated signal transduction
  • protein transport
  • protein localization
  • endosomal transport
  • exocytosis
  • intracellular signal transduction

Cellular Component

Where in the cell the gene product is active
  • presynaptic membrane
  • nuclear envelope
  • cytoplasm
  • coated pit
  • cytosol
  • recycling endosome
  • neuron projection
  • plasma membrane
  • lamellipodium

Molecular Function

What the gene product does at the molecular level
  • proline-rich region binding
  • protein binding
  • calcium ion binding
  • guanyl-nucleotide exchange factor activity
  • binding, bridging

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.