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The Abelson helper integration site 1 (AHI1) is a protein coding gene that is known for the critical role it plays in brain development.[1] Proper cerebellar and cortical development in the human brain depends heavily on AHI1. The AHI1 gene is prominently expressed in the embryonic hindbrain and forebrain.[1] AHI1 specifically encodes the Jouberin protein and mutations in the expression of the gene is known to cause specific forms of Joubert syndrome. Joubert syndrome is autosomal recessive and is characterized by the brain malformations and mental retardation that AHI1 mutations have the potential to induce.[2] AHI1 has also been associated with schizophrenia and autism due to the role it plays in brain development.[3] An AHI1 heterozygous knockout mouse model was created to study the correlation between alterations in AHI1 expression and the pathogenesis of neuropsychiatric disorders. The core temperatures and corticosterone secretions of the heterozygous knockout mice after exposure to environmental and visceral stress exhibited extreme repression of autonomic nervous system and hypothalamic-pituitary-adrenal responses. The knockout mice demonstrated an increased resilience to different types of stress and these results lead to a correlation between emotional regulation and neuropsychiatric disorders.[3]

Available structures
PDB Ortholog search: PDBe RCSB
Aliases AHI1, AHI-1, JBTS3, ORF1, dJ71N10.1, Abelson helper integration site 1
External IDs MGI: 87971 HomoloGene: 9762 GeneCards: AHI1
Gene location (Human)
Chromosome 6 (human)
Chr. Chromosome 6 (human)[4]
Chromosome 6 (human)
Genomic location for AHI1
Genomic location for AHI1
Band 6q23.3 Start 135,283,532 bp[4]
End 135,497,776 bp[4]
RNA expression pattern
PBB GE AHI1 220841 s at fs.png

PBB GE AHI1 220842 at fs.png

PBB GE AHI1 221569 at fs.png
More reference expression data
Species Human Mouse
RefSeq (mRNA)


RefSeq (protein)


Location (UCSC) Chr 6: 135.28 – 135.5 Mb Chr 10: 20.95 – 21.08 Mb
PubMed search [6] [7]
View/Edit Human View/Edit Mouse

Jouberin is a protein that in humans is encoded by the AHI1 gene.[8][9][10]


  1. ^ a b Dixon-Salazar, Tracy; Silhavy, Jennifer L.; Marsh, Sarah E.; Louie, Carrie M.; Scott, Lesley C.; Gururaj, Aithala; Al-Gazali, Lihadh; Al-Tawari, Asma A.; Kayserili, Hulya (2004-12-01). "Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria". American Journal of Human Genetics. 75 (6): 979–987. doi:10.1086/425985. ISSN 0002-9297. PMC 1182159Freely accessible. PMID 15467982. 
  2. ^ Amann-Zalcenstein, Daniela; Avidan, Nili; Kanyas, Kyra; Ebstein, Richard P.; Kohn, Yoav; Hamdan, Adnan; Ben-Asher, Edna; Karni, Osnat; Mujaheed, Muhammed (2006-06-14). "AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia". European Journal of Human Genetics. 14 (10): 1111–1119. doi:10.1038/sj.ejhg.5201675. ISSN 1018-4813. PMID 16773125. 
  3. ^ a b Lotan, A; Lifschytz, T; Slonimsky, A; Broner, E C; Greenbaum, L; Abedat, S; Fellig, Y; Cohen, H; Lory, O. "Neural mechanisms underlying stress resilience in Ahi1 knockout mice: relevance to neuropsychiatric disorders". Molecular Psychiatry. 19 (2): 243–252. doi:10.1038/mp.2013.123. PMID 24042478. 
  4. ^ a b c GRCh38: Ensembl release 89: ENSG00000135541 - Ensembl, May 2017
  5. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000019986 - Ensembl, May 2017
  6. ^ "Human PubMed Reference:". 
  7. ^ "Mouse PubMed Reference:". 
  8. ^ Lagier-Tourenne C, Boltshauser E, Breivik N, Gribaa M, Betard C, Barbot C, Koenig M (Apr 2004). "Homozygosity mapping of a third Joubert syndrome locus to 6q23". J Med Genet. 41 (4): 273–7. doi:10.1136/jmg.2003.014787. PMC 1735723Freely accessible. PMID 15060101. 
  9. ^ Utsch B, Sayer JA, Attanasio M, Pereira RR, Eccles M, Hennies HC, Otto EA, Hildebrandt F (Mar 2006). "Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome". Pediatr Nephrol. 21 (1): 32–5. doi:10.1007/s00467-005-2054-y. PMID 16240161. 
  10. ^ "Entrez Gene: AHI1 Abelson helper integration site 1". 

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