SNX27 Gene Summary [Human]

This gene encodes a member of the sorting nexin family, a diverse group of cytoplasmic and membrane-associated proteins involved in endocytosis of plasma membrane receptors and protein trafficking through these compartments. All members of this protein family contain a phosphoinositide binding domain (PX domain). A highly similar protein in mouse is responsible for the specific recruitment of an isoform of serotonin 5-hydroxytryptamine 4 receptor into early endosomes, suggesting the analogous role for the human protein. [provided by RefSeq, Jul 2008]

Details

Type
Protein Coding
Official Symbol
SNX27
Official Name
sorting nexin 27 [Source:HGNC Symbol;Acc:HGNC:20073]
Ensembl ID
ENSG00000143376
Bio databases IDs NCBI: 81609 Ensembl: ENSG00000143376
Aliases sorting nexin 27
Synonyms 5730552M22Rik, C79375, D13Mgi25, ESTM45, ESTM47, MRT1, MY014, R75405, SNTX27, sorting nexin 27, sorting nexin family member 27
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 SNX27 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • calcium-dependent protein binding
  • Domain present in PSD-95, Dlg, and ZO-1/2
  • RA domain
  • phosphoinositide binding domain
  • canonical PDZ domain
  • Sorting Nexin 17 FERM C-terminal domain
  • protein binding
  • Pleckstrin homology-like domain
  • PDZ domain
  • ionotropic glutamate receptor binding
  • FERM subdomain f1
  • phosphatidylinositol binding
  • FERM subdomain f3
  • FERM subdomain f2
  • FERM domain
  • Ubl1_cv_Nsp3_N-like
  • The Phox Homology domain, a phosphoinositide binding module
  • PDZ binding motif
  • PX domain

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • weight gain
  • severe myoclonic epilepsy in infancy
  • atopic dermatitis
  • breast cancer
  • schizophrenia
  • growth failure
  • hydrocephalus
  • severe combined immunodeficiency
  • invasive breast cancer
regulated by
regulates
role in cell
  • phosphorylation in
  • expression in
  • proliferation
  • production in
  • quantity
  • remodeling
  • loss
  • organization
  • density
  • translocation

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • glutaminergic synapse
  • intracellular membrane-bounded organelle
  • postsynaptic region
  • endosomes
  • vesicles
  • immunological synapses
  • cytosol
  • synapse
  • recycling endosomes
  • early endosomes

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human SNX27 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • regulation of synapse maturation
  • signal transduction
  • endosomal transport
  • endosome to lysosome transport
  • intracellular protein transport
  • establishment of natural killer cell polarity
  • endocytic recycling

Cellular Component

Where in the cell the gene product is active
  • early endosome membrane
  • early endosome
  • endosome
  • intracellular membrane-bounded organelle
  • retromer complex
  • cytosol
  • WASH complex
  • immunological synapse

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • phosphatidylinositol binding
  • phosphatidylinositol-3-phosphate binding

Gene-Specific Assays for Results You Can Trust

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