Abelson Helper Integration Site 1 (AHI1)

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ORF1; JBTS3; Jouberin

Abelson Helper Integration Site 1 (AHI1)
AHI1 contains a coiled-coil domain in its N-terminal 140 amino acids. These amino acids and this domain are entirely missing in the predicted proteins of both mouse and rat, but are present in the predicted proteins of nonhuman primates and other mammals.Full-length human AHI1 contains at least 1,187 amino acids. Both the rodent and human proteins have 7 WD40 repeats and an SH3 domain, but human AHI1 contains an N-terminal coiled-coil domain not found in the rodent proteins. One of the human AHI1 splice variants encodes a protein lacking the SH3 domain. RT-PCR analysis of Jurkat human T cells identified splice variants exhibiting exon skipping in the 5-prime UTR. Northern blot analysis of mouse tissues detected several Ahi1 splice variants, with highest expression in brain and testis and very low expression in liver.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Abelson Helper Integration Site 1 (AHI1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Abelson Helper Integration Site 1 (AHI1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Abelson Helper Integration Site 1 (AHI1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Abelson Helper Integration Site 1 (AHI1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Abelson Helper Integration Site 1 (AHI1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Abelson Helper Integration Site 1 (AHI1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Abelson Helper Integration Site 1 (AHI1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Abelson Helper Integration Site 1 (AHI1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Abelson Helper Integration Site 1 (AHI1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Abelson Helper Integration Site 1 (AHI1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Abelson Helper Integration Site 1 (AHI1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Abelson Helper Integration Site 1 (AHI1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Abelson Helper Integration Site 1 (AHI1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Abelson Helper Integration Site 1 (AHI1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Abelson Helper Integration Site 1 (AHI1) ELISA Kit Customized Service Offer
  1. "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 5:33-33(2004) [PubMed] [Europe PMC] [Abstract]
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  6. "Deregulated expression in Ph+ human leukemias of AHI-1, a gene activated by insertional mutagenesis in mouse models of leukemia."Blood 103:3897-3904(2004) [PubMed] [Europe PMC] [Abstract]
  7. "Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome."Nat. Genet. 36:1008-1013(2004) [PubMed] [Europe PMC] [Abstract]
  8. ErratumNat. Genet. 36:1126-1126(2004)
  9. "Jouberin localizes to collecting ducts and interacts with nephrocystin-1."Kidney Int. 74:1139-1149(2008) [PubMed] [Europe PMC] [Abstract]
  10. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  11. "The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions."J. Biol. Chem. 288:13676-13694(2013) [PubMed] [Europe PMC] [Abstract]
  12. "Molecular and structural characterization of the SH3 domain of AHI-1 in regulation of cellular resistance of BCR-ABL(+) chronic myeloid leukemia cells to tyrosine kinase inhibitors."Proteomics 12:2094-2106(2012) [PubMed] [Europe PMC] [Abstract]
  13. "Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria."Am. J. Hum. Genet. 75:979-987(2004) [PubMed] [Europe PMC] [Abstract]
  14. "AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders." Ann. Neurol. 59:527-534(2006) [PubMed] [Europe PMC] [Abstract]
  15. "Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population."Am. J. Hum. Genet. 90:693-700(2012) [PubMed] [Europe PMC] [Abstract]