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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
    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
    Physical map
    VNN1 6q23-q24 vanin 1 VNN3 6q23-q24 vanin 3 VNN2 6q23-q24 vanin 2 C6orf192 6q22.3-q23.3 chromosome 6 open reading frame 192 RPS12 6q23.1 ribosomal protein S12 LOC134870 6q23.1 similar to 60S ribosomal protein L23a EYA4 6q23 eyes absent homolog 4 (Drosophila) MGC34034 6q23.2 hypothetical protein MGC34034 TCF21 6q23-q24 transcription factor 21 FLJ35700 6q23.2 hypothetical protein FLJ35700 TBPL1 6q22.1-q22.3 TBP-like 1 SLC2A12 6q23.2 solute carrier family 2 (facilitated glucose transporter), member 12 SGK 6q23 serum/glucocorticoid regulated kinase LOC391971 6 similar to keratin 8; cytokeratin 8; keratin, type II cytoskeletal 8 LOC391972 6 similar to chromosome 7 open reading frame 17 protein; 16.7kD protein FAM8A6P 6q23 family with sequence similarity 8, member A6 pseudogene LOC154094 6q23.2 similar to Protein CGI-27 (C21orf19-like protein) ALDH8A1 6q24.1-q25.1 aldehyde dehydrogenase 8 family, member A1 HBS1L 6q23-q24 HBS1-like (S. cerevisiae) MYB 6q23.3-q24 v-myb myeloblastosis viral oncogene homolog (avian) AHI1 6q23.2 Abelson helper integration site LOC391973 6 similar to Glyceraldehyde 3-phosphate dehydrogenase, liver (GAPDH) PDE7B 6q23-q24 phosphodiesterase 7B DUFD1 6q23.2 DUF729 domain containing 1 BTF 6q23 DUF729 domain containing 1 MAP7 6q23.3 microtubule-associated protein 7 MAP3K5 6q22.33 mitogen-activated protein kinase kinase kinase 5 PEX7 6q21-q22.2 peroxisomal biogenesis factor 7 SLC35D3 6q23.2 solute carrier family 35, member D3 IL20RA 6q23.3 interleukin 20 receptor, alpha IL22RA2 6q24-q25.1 interleukin 22 receptor, alpha 2 IFNGR1 6q23-q24 interferon gamma receptor 1 OLIG3 6q23.3 oligodendrocyte transcription factor 3 LOC391974 6 similar to RIKEN cDNA 5730434I03 gene LOC134897 6q23.3 similar to protein tyrosine phosphatase
    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
    Type widely
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   highly Homo sapiens
    Reproductivefemale systemovary    Homo sapiens
     male systemtestis    Homo sapiens
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly Homo sapiens
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticmature hematopoietic
    cell lineage
    cell lines
    at STAGE
    physiological period embryo
    Text hindbrain and forebrain
  • 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
    interspecies ortholog to murine Ahi1
  • WD-40 repeat and SH3 domain containing protein family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,adherens
  • 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
    a component
  • part of HAP1-AHI1 complex in the brainstem working as a sensor for insulin signals in feeding control
    small molecule
  • 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
    corresponding disease(s) JBTS3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    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
    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
  • 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