Ap4s1 Gene Summary [Mouse]

This gene encodes the sigma subunit of the adaptor-related protein complex 4 which mediates intracellular membrane trafficking along the endocytic and secretory transport pathways. This complex contains four subunits, beta, epsilon, mu, and sigma, and belongs to a family of five adapter protein complexes, including three clathrin-associated complexes and two non clathrin-associated complexes, that localize to different intracellular compartments and mediate membrane vesicle trafficking using distinct pathways. In humans, loss-of-function mutations in this gene have been linked to specific adapter complex 4 deficiency disorders including hereditary spastic paraplegia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]

Details

Type
Protein Coding
Official Symbol
Ap4s1
Official Name
adaptor-related protein complex AP-4, sigma 1 [Source:MGI Symbol;Acc:MGI:1337065]
Ensembl ID
ENSMUSG00000020955
Bio databases IDs NCBI: 11782 Ensembl: ENSMUSG00000020955
Aliases adaptor-related protein complex AP-4, sigma 1
Synonyms ADAPTOR protein 4 SIGMA 4 subunit, ADAPTOR protein 4 σ 4 subunit, adaptor related protein complex 4 subunit sigma 1, adaptor related protein complex 4 subunit σ 1, adaptor-related protein complex AP-4, sigma 1, adaptor-related protein complex AP-4, σ 1, AP47B, Ap4 σ 4, CLA20, CLAPS4, CPSQ6, LOC120103535, SPG52
Species
Mouse, Mus musculus
OrthologiesHumanRat

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 mouse Ap4s1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Clathrin adaptor complex small chain
  • APS2
  • Longin-like domains

Pathways

Biological processes and signaling networks where the Ap4s1 gene in mouse 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
  • spastic paraplegia
  • hereditary disorder
  • autosomal recessive spastic paraplegia type 52
  • tuberculosis
  • neurodevelopmental disorder
  • AP4-deficiency syndrome
  • schizophrenia
  • mental retardation
regulated by

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
  • intracellular membrane-bounded organelle
  • endosomes
  • trans Golgi network

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Ap4s1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • protein targeting
  • vesicle-mediated transport
  • protein transport
  • protein localization

Cellular Component

Where in the cell the gene product is active
  • trans-Golgi network
  • intracellular membrane-bounded organelle
  • endosome lumen
  • AP-4 adaptor complex
  • trans-Golgi network membrane

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.