STXBP1

syntaxin binding protein 1

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

Cilia effects upon perturbation of STXBP1

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

Functional category

  • Ciliary assembly/disassembly
  • Metabolism
  • T cell biology
  • 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).

Model organism evidence

Mus musculus (1 reference)

Histone deacetylase 6 (HDAC6)-mediated disassembly of photoreceptor cilia has recently been implicated as an early event in the pathogenesis of ROP.

PMIDs: 35619548