STXBP1

syntaxin binding protein 1

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000136854
UniProt:
P61764
OMIM:
602926
Synonyms:
HUNC18, MUNC18-1, NSEC1, RBSEC1, UNC18

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
abnormal embryo size, hyperactivity, edema, increased mean corpuscular volume, increased thigmotaxis, increased grip strength, impaired glucose tolerance, increased exploration in new environment, preweaning lethality, complete penetrance, decreased hematocrit, hemorrhage
Human ciliopathy phenotype:
Intellectual disability

Subcellular localization

cilia, cytosol, basal body

References: PMID:41005307, PMID:26216965, PMID:39677731

Functional category

  • Ciliary assembly/disassembly
  • Metabolism
  • Protein processing & maturation
  • Transcription regulation

Function

accumulation of Stx3 and Stxbp1/Munc18-1 and loss of polarized localization of Prom1 within the Lztfl1 and Bbs1 mutant outer segment (26216965). STXBP1 localizes proximally at the basal body, and antibody staining in rat brain cells confirms its ciliary localization (Kostyanovskaya et al., 2025, bioRxiv, PMID 39677731).