AHI1

Abelson helper integration site 1

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

  • Acrocallosal Syndrome
  • Joubert Syndrome
  • Nephronophthisis

Subcellular localization

basal body, centrosome, cilia

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).

Model organism evidence

Mus musculus (3 references)

Transition zone (TZ) proteins AHI1 and NPHP1 were abnormally restricted to the proximal connecting cilium in

Transition zone proteins AHI1 and NPHP1 were abnormally restricted to the proximal connecting cilium in the absence of CEP290, while others like NPHP8 and CEP89 were u

PMIDs: 40704549, 39896654, 35394880