ALMS1

ALMS1 centrosome and basal body associated protein

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000116127
UniProt:
Q8TCU4
OMIM:
606844
Synonyms:
KIAA0328

Cilia effects upon perturbation of ALMS1

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

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-5.63) 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 locomotor behavior, increased circulating amylase level
Human ciliopathy phenotype:
Bardet-Biedl syndrome; Leber congenital amaurosis; retinitis pigmentosa

Ciliopathy associations

  • Alström Syndrome

References: PMID:17594715, PMID:28432734, PMID:20301444, PMID:17940554, PMID:26229500, PMID:32958032, PMID:39243575, PMID:37321834, PMID:38756069, PMID:21135875, PMID:38583571, PMID:38122899, PMID:39742192, PMID:39386593, PMID:31543709, PMID:36636630, PMID:39386013, PMID:32945434, PMID:40498041, PMID:29193673, PMID:31755649

Subcellular localization

basal body, centrosome, cilia, cytosol

References: PMID:41005307, PMID:11941369, PMID:11941370, PMID:17206865

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Protein processing & maturation

Function

Mutated in Alstrom syndrome (type 1) (OMIM 606844, 11941369, 11941370). Also mutated in 1 LCA family (PMID:21901789). siRNA knockdown leads to shortened cilia and i bility of cilia to respond to mechanical stimuli (PMID:17206865).