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ATXN7 ataxin 7 [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu20360 NM_001128149 Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7c, mRNA. pcDNA3.1+-DYK On-demand 12-14 $279.00
OHu21671 NM_001177387 Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7b, mRNA. pcDNA3.1+-DYK On-demand 12-14 $279.00
OHu26052 NM_000333 Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA. pcDNA3.1+-DYK On-demand 12-14 $279.00
OHu20360C NM_001128149 Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7c, mRNA. Customized vector On-demand 12-14 $329.00
OHu21671C NM_001177387 Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7b, mRNA. Customized vector On-demand 12-14 $329.00
OHu26052C NM_000333 Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA. Customized vector On-demand 12-14 $329.00

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Gene Symbol ATXN7
Entrez Gene ID 6314
Full Name ataxin 7
Synonyms ADCAII, OPCA3, SCA7
General protein information
Preferred Names
ataxin-7
Names
ataxin-7
spinocerebellar ataxia type 7 protein
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

3

3p21.1-p12

Summary 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. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 38-130 CAG repeats (near the N-terminus), compared to 7-17 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010].
Disorder

MIM: 607640

Spinocerebellar ataxia-7, 164500 (3)

mRNA Protein Product Sequence Price Select
NM_000333, 189491740 NP_000324, 4506797 ataxin-7 isoform a ORF Sequence $750.00
NM_001128149, 293651610 NP_001121621, 293651611 ataxin-7 isoform c ORF Sequence $700.00
NM_001177387, 293651612 NP_001170858, 293651613 ataxin-7 isoform b ORF Sequence $750.00
Reactome
REACT_172633Chromatin modifying enzymes
REACT_172610HATs acetylate histones
REACT_172623Chromatin organization
Homo sapiens (human)ATXN7NP_001170858.1
Pan troglodytes (chimpanzee)ATXN7XP_001174619.2
Canis lupus familiaris (dog)ATXN7XP_005632413.1
Bos taurus (cattle)ATXN7XP_002697032.2
Mus musculus (house mouse)Atxn7NP_631973.3
Rattus norvegicus (Norway rat)Atxn7XP_006251790.1
Gallus gallus (chicken)ATXN7XP_004944715.1
Danio rerio (zebrafish)LOC100001490XP_001341475.5
Xenopus (Silurana) tropicalis (western clawed frog)atxn7NP_001106501.1
Process
IDNameEvidence
GO:0000226microtubule cytoskeleton organizationIMP
GO:0006325chromatin organizationTAS
GO:0006351transcription, DNA-templatedIEA
GO:0006997nucleus organizationTAS
GO:0007601visual perceptionTAS
GO:0008219cell deathIEA
GO:0016578histone deubiquitinationIDA
GO:0042326negative regulation of phosphorylationIEA
GO:0043569negative regulation of insulin-like growth factor receptor signaling pathwayIEA
GO:0045944positive regulation of transcription from RNA polymerase II promoterIEA
Component
IDNameEvidence
GO:0005634nucleusIDA
GO:0005730nucleolusIDA
GO:0005737cytoplasmIDA
GO:0015630microtubule cytoskeletonIDA
GO:0016363nuclear matrixIEA
Function
IDNameEvidence
GO:0003682chromatin bindingIEA
GO:0005515protein bindingIPI
GeneCards ATXN7
UniProt Q9UPD8, O15265
Vega OTTHUMG00000158763
MIM 607640
Ensembl ENSG00000163635
HGNC 10560
HPRD 06365

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Interactant

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