AP4S1

This gene encodes a member of the adaptor complexes small subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is the small subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Mutations in this gene are associated with spastic quadriplegic cerebral palsy-6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Dec 2011]

Description

Adaptor related protein complex 4 subunit sigma 1

Tissue specificity

Low tissue specificity

Subcell location

Vesicles

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

14 (31025106 - 31130996)

Ensembl ID

ENSG00000100478  (ver. 103.38)

Orthologs

Mouse Ap4s1: ENSMUSG00000020955

UniProt

Q9Y587

neXtProt

NX_Q9Y587

Human splice variants
Mouse splice variants

Protein structure