Search
syntaxin-binding protein 5-like (tomosyn-2, lethal[2] giant larvae protein homolog 4, STXBP5L, KIAA1006, LLGL4)
Function:
- role in vesicle trafficking & exocytosis
Compartment:
- cytoplasm, peripheral membrane
- cytoplasmic, associated with vesicular membranes & plasma membrane
Alternative splicing: named isoforms=2
Expression:
- detected in kidney, hippocampus
Pathology:
- detected in lung carcinoma
Structure:
- belongs to the WD repeat L(2)GL family
- contains 1 v-SNARE coiled-coil homology domain
- contains 6 WD repeats
Polymorphism:
- SNP in STXBP5L gene & haplotype linkage with another SNP that increases expression of FBXO40 is associated with less photoaging of facial skin [2]
General
WD repeat protein family
Properties
SIZE: MW = 132 kD
entity length = 1186 aa
COMPARTMENT: cytoplasm
MOTIF: WD repeat {68-107}
WD repeat {109-148}
WD repeat {206-246}
WD repeat {248-287}
WD repeat {443-486}
WD repeat {512-551}
SNARE motif {1121-1181}
Database Correlations
UniProt Q9Y2K9
PFAM correlations
References
- UniProt :accession Q9Y2K9
- Le Clerc S et al.
A genome-wide association study in Caucasian women points out
a putative role of the STXBP5L gene in facial photoaging.
J Invest Dermatol 2013 Apr; 133:929.
PMID: 2322314