ATXN1
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Official Full Name
ataxin 1 -
Overview
The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 41-81 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). At least two transcript variants encoding the same protein have been found for this gene. Encodes a homolog of trithorax, a histone-lysine N-methyltransferase. Involved in trimethylating histone H3-lysine 4. Involved in the formation, placement, and identity of flower organs. Role in regulation of homeotic genes. Functions as a receptor of phosphatidylinositol 5-phosphate. Localizes to cytoplasm, plasma membrane and nuclei, shifting to nuclei in the presence of PI5P. -
Synonyms
ATXN1;ataxin 1;SCA1, spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1);ataxin-1;ATX1;D6S504E;ATX1_HUMAN;OTTHUMP00000016065;SCA1;Spinocerebellar ataxia type 1 protein;Atx1p;YNL259C
Recombinant Proteins
- Yeast
- Human
- Mouse
- Rat
- E.coli
- Wheat Germ
- Mammalian Cell
- E.Coli or Yeast
- HEK293
- HEK293T
- Mammalian cells
- Non
- GST
- His
- His&T7
- Myc&DDK
- Flag
- His&Fc&Avi
Involved Pathway
ATXN1 involved in several pathways and played different roles in them. We selected most pathways ATXN1 participated on our site, such as , which may be useful for your reference. Also, other proteins which involved in the same pathway with ATXN1 were listed below. Creative BioMart supplied nearly all the proteins listed, you can search them on our site.
| Pathway Name | Pathway Related Protein |
|---|
Protein Function
ATXN1 has several biochemical functions, for example, protein binding,structural constituent of cytoskeleton,structural constituent of eye lens. Some of the functions are cooperated with other proteins, some of the functions could acted by ATXN1 itself. We selected most functions ATXN1 had, and list some proteins which have the same functions with ATXN1. You can find most of the proteins on our site.
| Function | Related Protein |
|---|---|
| structural constituent of cytoskeleton | TUBA8L2,TUBA1C,NDC80,ARPC5,EPB41L3,CCDC6,TUBA1L2,TUBA3D,TUBGCP5,TUBA3C |
| protein binding | EPHA7,HSPA2,TSPAN6,MAL2,ISG15,POLR2E,KIRREL2,CD46,SLC9A3R1,GZMM |
| structural constituent of eye lens | CRYGS,CRYGF,CRYBB2,CPOX,CRYGN2,BFSP1,BFSP2,CRYABA,CRYAB,CRYGC |
Interacting Protein
ATXN1 has direct interactions with proteins and molecules. Those interactions were detected by several methods such as yeast two hybrid, co-IP, pull-down and so on. We selected proteins and molecules interacted with ATXN1 here. Most of them are supplied by our site. Hope this information will be useful for your research of ATXN1.
RBFOX2;YWHAE;YWHAZ
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