AHI1

Abelson helper integration site 1

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000135541
UniProt:
Q8N157
OMIM:
608894
Synonyms:
FLJ20069, JBTS3, ORF1

Cilia effects upon perturbation of AHI1

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]: 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

Human ciliopathy phenotype:
Joubert syndrome with ocular defect; Joubert syndrome; Joubert syndrome 3; retinitis pigmentosa; Joubert syndrome and related disorders

Ciliopathy associations

  • Joubert Syndrome
  • Nephronophthisis

References: PMID:15322546, PMID:16453322, PMID:16240161, PMID:15467982

Subcellular localization

basal body, centrosome, cilia

References: PMID:41005307, PMID:22179047, PMID:19625297

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Ciliary membrane
  • Transition zone

Function

Mutated in Joubert syndrome (type 3) (OMIM 608894, PMID:16453322). At mother centriole/basal body. Interacts with B9 complex of transition zone proteins including B9D1, B9D2, MKS1, TCTN1, TCTN2 (PMID:22179047). Role in RAB8-dependent ciliary membrane targeting (PMID:19625297).