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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 [2]
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 [2]
General
sorting nexin
Properties
SIZE: entity length = 541 aa
MW = 61 kD
COMPARTMENT: cytoplasm
MOTIF: PDZ domain
NAME: PDZ domain
SITE: 43-136
PX domain {161-269}
MOTIF: SH3-binding site
NAME: SH3-binding site
Ras-associating {273-362}
Database Correlations
OMIM 611541
UniProt Q96L92
PFAM correlations
Entrez Gene 81609
Kegg hsa:81609
References
- UniProt :accession Q96L92
- San Diego Tribune. Published in Nature Medicine March 24, 2013.
Down syndrome's molecular cause found.
http://www.utsandiego.com/news/2013/mar/24/down-syndrome-sanford-burnham-trisomy-21/