HAP1_NHAP1 N-terminal conserved region |
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| SMART accession number: | SM01424
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| Description: |
This family represents an N-terminal conserved region found in several huntingtin-associated protein 1 (HAP1) homologues. HAP1 binds to huntingtin in a polyglutamine repeat-length-dependent manner. However, its possible role in the pathogenesis of Huntingtons disease is unclear PMID:7477378,9599014,9285789. This family also includes a similar N-terminal conserved region from hypothetical protein products of ALS2CR3 genes found in the human juvenile amyotrophic lateral sclerosis critical region 2q33-2q34 PMID:11161814. |
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| Family alignment: |
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There are 0 HAP1_N domains in 0 proteins in SMART's nrdb database.
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Literature (relevant references for this domain)
Primary literature is listed below; Automatically-derived, secondary literature is also avaliable.
- Hadano S et al.
- Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3,in the juvenile amyotrophic lateral sclerosis (ALS2) critical region atchromosome 2q33-q34: candidate genes for ALS2.
- Genomics. 2001; 71: 200-13
- Display abstract
Amyotrophic lateral sclerosis is a progressive neurodegenerative disease thatmanifests as selective upper and lower motor neuron degeneration. The autosomalrecessive form of juvenile amyotrophic lateral sclerosis (ALS2) has previouslybeen mapped to the 1.7-cM interval flanked by D2S116 and D2S2237 on humanchromosome 2q33-q34. We identified three novel full-length transcripts encoded bythree distinct genes (HGMW-approved symbols ALS2CR1, ALS2CR2, and ALS2CR3) withinthe ALS2 critical region. The intron-exon organizations of these genes as well asthose of CFLAR, CASP10, and CASP8, which were previously mapped to this region,were defined. These genes were evaluated for mutations in ALS2 patients, and nodisease-associated sequence alterations in either exons or intron-exon boundarieswere observed. Sequence analysis of overlapping RT-PCR products covering thewhole coding sequence for each transcript revealed no aberrant mRNA sequences.These data strongly indicate that ALS2CR1, ALS2CR2, ALS2CR3, CFLAR, CASP10, andCASP8 are not causative genes for ALS2.
Links (links to other resources describing this domain)
