AHI1

From Wikipedia, the free encyclopedia


Abelson helper integration site 1
Identifiers
Symbol(s) AHI1; ORF1; AHI-1; DKFZp686J1653; FLJ14023; FLJ20069; JBTS3; dJ71N10.1
External IDs OMIM: 608894 MGI: 87971 HomoloGene: 9762
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 54806 52906
Ensembl ENSG00000135541 ENSMUSG00000019986
Uniprot Q8N157 Q3KQM7
Refseq NM_017651 (mRNA)
NP_060121 (protein)		 NM_026203 (mRNA)
NP_080479 (protein)
Location Chr 6: 135.65 - 135.86 Mb Chr 10: 20.65 - 20.76 Mb
Pubmed search [1] [2]

Abelson helper integration site 1, also known as AHI1, is a human gene.[1]


[edit] References

  1. ^ Entrez Gene: AHI1 Abelson helper integration site 1.

[edit] Further reading

  • Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171-4. PMID 8125298. 
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149-56. PMID 9373149. 
  • Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination.". Genome Res. 10 (11): 1788-95. PMID 11076863. 
  • Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.". Genome Res. 11 (3): 422-35. doi:10.1101/gr.154701. PMID 11230166. 
  • Jiang X, Hanna Z, Kaouass M, et al. (2002). "Ahi-1, a novel gene encoding a modular protein with WD40-repeat and SH3 domains, is targeted by the Ahi-1 and Mis-2 provirus integrations.". J. Virol. 76 (18): 9046-59. PMID 12186888. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899-903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6.". Nature 425 (6960): 805-11. doi:10.1038/nature02055. PMID 14574404. 
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40-5. doi:10.1038/ng1285. PMID 14702039. 
  • Jiang X, Zhao Y, Chan WY, et al. (2004). "Deregulated expression in Ph+ human leukemias of AHI-1, a gene activated by insertional mutagenesis in mouse models of leukemia.". Blood 103 (10): 3897-904. doi:10.1182/blood-2003-11-4026. PMID 14751929. 
  • Lagier-Tourenne C, Boltshauser E, Breivik N, et al. (2004). "Homozygosity mapping of a third Joubert syndrome locus to 6q23.". J. Med. Genet. 41 (4): 273-7. PMID 15060101. 
  • Close J, Game L, Clark B, et al. (2004). "Genome annotation of a 1.5 Mb region of human chromosome 6q23 encompassing a quantitative trait locus for fetal hemoglobin expression in adults.". BMC Genomics 5 (1): 33. doi:10.1186/1471-2164-5-33. PMID 15169551. 
  • Ferland RJ, Eyaid W, Collura RV, et al. (2004). "Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.". Nat. Genet. 36 (9): 1008-13. doi:10.1038/ng1419. PMID 15322546. 
  • Dixon-Salazar T, Silhavy JL, Marsh SE, et al. (2005). "Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.". Am. J. Hum. Genet. 75 (6): 979-87. doi:10.1086/425985. PMID 15467982. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121-7. doi:10.1101/gr.2596504. PMID 15489334. 
  • Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to biology: a functional genomics pipeline.". Genome Res. 14 (10B): 2136-44. doi:10.1101/gr.2576704. PMID 15489336. 
  • Parisi MA, Doherty D, Eckert ML, et al. (2006). "AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.". J. Med. Genet. 43 (4): 334-9. doi:10.1136/jmg.2005.036608. PMID 16155189. 
  • Utsch B, Sayer JA, Attanasio M, et al. (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. 
  • Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006.". Nucleic Acids Res. 34 (Database issue): D415-8. doi:10.1093/nar/gkj139. PMID 16381901. 
  • Valente EM, Brancati F, Silhavy JL, et al. (2006). "AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.". Ann. Neurol. 59 (3): 527-34. doi:10.1002/ana.20749. PMID 16453322. 
  • Amann-Zalcenstein D, Avidan N, Kanyas K, et al. (2006). "AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia.". Eur. J. Hum. Genet. 14 (10): 1111-9. doi:10.1038/sj.ejhg.5201675. PMID 16773125. 
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