AHI1

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Abelson helper integration site 1
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols AHI1 ; AHI-1; JBTS3; ORF1; dJ71N10.1
External IDs OMIM608894 MGI87971 HomoloGene9762 GeneCards: AHI1 Gene
RNA expression pattern
PBB GE AHI1 220841 s at tn.png
PBB GE AHI1 221569 at tn.png
PBB GE AHI1 220842 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 54806 52906
Ensembl ENSG00000135541 ENSMUSG00000019986
UniProt Q8N157 Q8K3E5
RefSeq (mRNA) NM_001134830 NM_001177776
RefSeq (protein) NP_001128302 NP_001171247
Location (UCSC) Chr 6:
135.6 – 135.82 Mb
Chr 10:
20.95 – 21.08 Mb
PubMed search [1] [2]

Jouberin is a protein that in humans is encoded by the AHI1 gene.[1][2][3]


References[edit]

  1. ^ 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 1735723. PMID 15060101. 
  2. ^ 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. 
  3. ^ "Entrez Gene: AHI1 Abelson helper integration site 1". 

Further reading[edit]