STXBP5L

The protein encoded by this gene is similar to syntaxin-binding protein 5 and contains ten N-terminal WD40 repeats, four variable region WD40 repeats, and a C-terminal R-SNARE domain. Studies of the orthologous proteins in mouse and rat have shown that the encoded protein may inhibit exocytosis in neurosecretory cells, and may negatively regulate the secretion of insulin. A missense variant in this gene is likely the cause of an infantile-onset neurodegenerative disorder diagnosed in two siblings of consanguineous parents. [provided by RefSeq, Jan 2017]

Description

Syntaxin binding protein 5 like

Tissue specificity

Tissue enriched (brain)

Predicted location

Intracellular

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Kim et al 2014)

Chromosome

3 (120908072 - 121424761)

Ensembl ID

ENSG00000145087  (ver. 103.38)

Orthologs

Mouse Stxbp5l: ENSMUSG00000022829

UniProt

Q9Y2K9

neXtProt

NX_Q9Y2K9

Human splice variants
Mouse splice variants

Protein structure