jouberin; Abelson helper integration site 1 protein homolog (AHI-1, AHI1)

Function

• component of the tectonic-like complex, a complex
• self-associates
• interacts with MKS1
• interacts with NPHP1 probably as heterodimers &/or AHI1(2):NPHP1(2) heterotetramers
• interacts (via SH3 domain) with the dynamin GTPase DNM2
• interacts with HAP1; probably as AHI1(2):HAP1(2) heterotetramers

Structure

• contains 1 SH3 dom
• contains 7 WD repeats

Compartment

• cytoplasm, cytoskeleton
• cilium basal body cell junction
• adherens junction

Alternative splicing

• named isoforms=3
• at least 1 isoform may be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay

Expression

• highly expressed in the most primitive normal hematopoietic cells
• expressed in brain, particularly in neurons that give rise to crossing axons of corticospinal tract & superior cerebellar peduncles
• down-regulated during early differentiation of normal hematopoietic cells

Pathology

• up-regulated in leukemic cells at all stages of differentiation from patients with chronic myeloid leukemia
• defects in AHI1 are the cause of Joubert syndrome 3

More general terms

• WD repeat protein family

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=54806
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:54806
• OMIM: https://mirror.omim.org/entry/608629
• OMIM: https://mirror.omim.org/entry/608894
• UniProt: http://www.uniprot.org/uniprot/Q8N157.html