Human Gene AHI1 (ENST00000265602.11) Description and Page Index
Description: Homo sapiens Abelson helper integration site 1 (AHI1), transcript variant 6, mRNA. (from RefSeq NM_001350504) RefSeq Summary (NM_001134831): This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]. Gencode Transcript: ENST00000265602.11 Gencode Gene: ENSG00000135541.21 Transcript (Including UTRs) Position: hg38 chr6:135,283,532-135,497,740 Size: 214,209 Total Exon Count: 29 Strand: - Coding Region Position: hg38 chr6:135,285,645-135,492,237 Size: 206,593 Coding Exon Count: 26
ID:AHI1_HUMAN DESCRIPTION: RecName: Full=Jouberin; AltName: Full=Abelson helper integration site 1 protein homolog; Short=AHI-1; FUNCTION: Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes (By similarity). SUBUNIT: Part of the tectonic-like complex (also named B9 complex). Interacts with MKS1 (By similarity). Interacts with NPHP1. INTERACTION: P50570:DNM2; NbExp=2; IntAct=EBI-1049056, EBI-346547; SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body (By similarity). Cell junction, adherens junction. TISSUE SPECIFICITY: Highly expressed in the most primitive normal hematopoietic cells. Expressed in brain, particularly in neurons that give rise to the crossing axons of the corticospinal tract and superior cerebellar peduncles. Expressed in kidney (renal collecting duct cells) (at protein level). INDUCTION: Down-regulated during early differentiation of normal hematopoietic cells. Up-regulated in leukemic cells at all stages of differentiation from patients with chronic myeloid leukemia. DISEASE: Defects in AHI1 are the cause of Joubert syndrome type 3 (JBTS3) [MIM:608629]. JBTS is an autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. JBTS3 shows minimal extra central nervous system involvement and appears not to be associated with renal dysfunction. SIMILARITY: Contains 1 SH3 domain. SIMILARITY: Contains 7 WD repeats. SEQUENCE CAUTION: Sequence=AAH29417.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAH65712.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=CAI20201.1; Type=Erroneous gene model prediction; Sequence=CAI20387.1; Type=Erroneous gene model prediction; Sequence=CAI22523.1; Type=Erroneous gene model prediction; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AHI1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8N157
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.