TULP1

TUB like protein 1

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000112041
UniProt:
O00294
OMIM:
602280
Synonyms:
LCA15, RP14, TUBL1

Cilia effects upon perturbation of TULP1

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Shorter cilia

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-8.46) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:
retinitis pigmentosa; Leber congenital amaurosis

Ciliopathy associations

  • Leber Congenital Amaurosis
  • Retinal Dystrophy/Degeneration

References: PMID:22605927, PMID:15024725, PMID:17962469, PMID:38278208, PMID:37240262, PMID:10711677, PMID:10440267

Subcellular localization

cilia

References: PMID:33187986, PMID:25074776, PMID:36396940

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Cell migration & adhesion
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Role in intracellular transport, cell differentiation, signaling, and motility. Mutations result in progressive photoreceptor degeneration in mice and retinitis pigmentosa in humans (33187986, 25074776, 9462750).