sorting nexin-27 (SNX27 KIAA0488 My014)

Function

• role in endocytic trafficking (putative)
• in T lymphocytes, participates in endocytic recycling pathway
• recruits PSCDBP & HT4R to early endosomes (putative)
• interacts with PSCDBP
• isoforms 1 & 2 directly interact with DGKZ
• isoforms 1 & 2 interact with HT4R isoform 5-HTA(A) (putative)
• interacts with MCC
• may play a role in recruitment or stabilization of neuronal glutamate receptors in the brain

Structure

• the PDZ domain mediates the interaction with DGKZ, PSCDBP & HT4R & is responsible for vesicular localization
• belongs to the sorting nexin family
• contains 1 PDZ domain (DHR domain)
• contains 1 PX (phox homology) domain
• contains 1 Ras-associating domain

Compartment

• cytoplasm, cytosol. early endosome.
• in T lymphocytes, recruited from the cytosol to sorting endosomes by phosphoinositide-3-kinase products

Alternative splicing

named isoforms=4

Expression

• expressed in cells of hematopoietic origin (at protein level)

Pathology

• defects or deficiency in SNX27 are associated with Down syndrome

More general terms

• sorting nexin

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=81609
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:81609
• OMIM: https://mirror.omim.org/entry/611541
• UniProt: http://www.uniprot.org/uniprot/Q96L92.html