Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol AHI1 contributors: mct/npt/pgu - updated : 12-06-2013
HGNC name Abelson helper integration site 1
HGNC id 21575
Corresponding disease
JBTS3 Joubert syndrome 3
Location 6q23.3      Physical location : 135.605.111 - 135.818.903
Synonym name
  • Jouberin
  • contatins SH3 and WD40 domains
  • Abelson helper integration site 1 protein homolog
  • Synonym symbol(s) ORF1, FLJ20069, FLJ14023, dJ71N10.1, DKFZp686J1653, AHI-1
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem, opposite orientation
    text with C6orf217
    STRUCTURE 213.79 kb     28 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D6S1837 - AHI1 - DS1626 - D6S292 - qter
    RNA
    TRANSCRIPTS type messenger
    text two alternatively spliced exons 24a and 27a
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    29 splicing 5649 137.1 1196 - 2008 18633336
    28 splicing 5564 - 1196 - 2008 18633336
    exon 24a
    27 splicing 5502 - 1196 - 2008 18633336
    exon 27a
    23 - 3674 - 1053 - 2008 18633336
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   highly Homo sapiens
    Reproductivefemale systemovary    Homo sapiens
     male systemtestis    Homo sapiens
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticmature hematopoietic
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text hindbrain and forebrain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a coiled-coil domain in its N-terminal 140 amino acids
  • seven Trp-Asp (WD) repeats domains (G protein beta WD-40 repeats)
  • an SH3 domain and numerous SH3 binding sites
  • two transcription factor binding sitesfor CREB and ATF
  • HOMOLOGY
    interspecies ortholog to murine Ahi1
    Homologene
    FAMILY
  • WD-40 repeat and SH3 domain containing protein family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,adherens
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    text
  • expressed at cell-cell junctions, primary cilia and basal body (Eley 2008)
  • localizes to a single centriole, the mother centriole, which becomes the basal body of the primary cilium
  • basic FUNCTION
  • may mediate protein-protein interactions
  • required for both cerebellar and cortical development
  • regulates cilium formation via its interaction with RAB8A, a small GTPase critical for polarized membrane trafficking
  • may be a protein that is present only in a subset of ciliated cells that may be involved in the regulation or trafficking of proteins necessary for the formation and/or functioning of different subtypes of cilium with presumed independent functions
  • potential involvement of AHI1 in the maintenance of glucose homeostasis and type 2 diabetes mellitus progression
  • role in photoreceptor development
  • required for both cerebellar and cortical development
  • potential role for Jouberin (Jbn), the protein encoded by AHI1, in canonical Wnt signaling
  • AHI1 and CDKN1C exhibit opposite expression patterns, where AHI1 is expressed in poor and intermediate prognosis patients, while CDKN1C is expressed in favourable prognosis patients
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • part of HAP1-AHI1 complex in the brainstem working as a sensor for insulin signals in feeding control
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with nephrocystin-1
  • interacting with HAP1 (critical role of the AHI1-HAP1 complex in early brain development)
  • interacting with RAB8A (distribution and functioning of RAB8A is regulated by AHI1, not only affecting cilium formation, but also vesicle transport)
  • HAP1 is a regulatory protein that binds AHI1
  • CEND1 is involved in AHI1-associated hypothalamic neuronal differentiation in early development, giving us fresh insight into the mechanism behind the delayed development in Joubert syndrome
  • B9D1, AHI1, and the N termini of NPHP4 and IQCB1 interact with the transmembrane protein SSTR3 and thus spatially map to the outer region of the ciliary gating zone
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) JBTS3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional        
    specific defects of outer segment morphogenesis and photoreceptor survival associated with absence of AHI1
    tumoral     --over  
    in a subset of cutaneous T-cell lymphoma-derived cell lines, where it downregulates the expression of CDKN1C tumor suppressor
    Susceptibility to autism spectrum disorder
    Variant & Polymorphism other haplotype increasing the risk of autism spectrum disorder
    Candidate gene for susceptibility to schizophrenia
    Marker
    Therapy target
  • mice with neuronal Ahi1 deficiency show reduced TrkB level in the brain and depressive phenotypes, which can be alleviated by antidepressant drugs or by overexpression of TrkB in the amygdala
  • ANIMAL & CELL MODELS
  • Ahi1-null mice fail to form retinal outer segments and have abnormal distribution of opsin throughout their photoreceptors
  • mice with mutated Ahi1, show cerebellar hypoplasia with a vermis-midline fusion defect early in development