Summary: HAP1 N-terminal conserved region
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HAP1 N-terminal conserved region Provide feedback
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 Huntington's disease is unclear [1-3]. 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 .
Li XJ, Li SH, Sharp AH, Nucifora FC Jr, Schilling G, Lanahan A, Worley P, Snyder SH, Ross CA; , Nature 1995;378:398-402.: A huntingtin-associated protein enriched in brain with implications for pathology. PUBMED:7477378 EPMC:7477378
Bertaux F, Sharp AH, Ross CA, Lehrach H, Bates GP, Wanker E; , FEBS Lett 1998;426:229-232.: HAP1-huntingtin interactions do not contribute to the molecular pathology in Huntington's disease transgenic mice. PUBMED:9599014 EPMC:9599014
Colomer V, Engelender S, Sharp AH, Duan K, Cooper JK, Lanahan A, Lyford G, Worley P, Ross CA; , Hum Mol Genet 1997;6:1519-1525.: Huntingtin-associated protein 1 (HAP1) binds to a Trio-like polypeptide, with a rac1 guanine nucleotide exchange factor domain. PUBMED:9285789 EPMC:9285789
Hadano S, Yanagisawa Y, Skaug J, Fichter K, Nasir J, Martindale D, Koop BF, Scherer SW, Nicholson DW, Rouleau GA, Ikeda J, Hayden MR; , Genomics 2001;71:200-213.: Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: candidate genes for ALS2. PUBMED:11161814 EPMC:11161814
External database links
This tab holds annotation information from the InterPro database.
InterPro entry IPR006933
This entry represents a 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 [PUBMED:7477378, PUBMED:9599014, PUBMED:9285789]. This domain 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 [PUBMED:11161814].
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Curation and family details
|Seed source:||Pfam-B_4571 (release 7.6)|
|Number in seed:||30|
|Number in full:||451|
|Average length of the domain:||224.10 aa|
|Average identity of full alignment:||38 %|
|Average coverage of the sequence by the domain:||33.68 %|
|HMM build commands:||
build method: hmmbuild -o /dev/null HMM SEED
search method: hmmsearch -Z 80369284 -E 1000 --cpu 4 HMM pfamseq
|Family (HMM) version:||9|
|Download:||download the raw HMM for this family|
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