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    ATXN7 ataxin 7 [ Homo sapiens (human) ]

    Gene ID: 6314, updated on 25-May-2017
    Official Symbol
    ATXN7provided by HGNC
    Official Full Name
    ataxin 7provided by HGNC
    Primary source
    HGNC:HGNC:10560
    See related
    Ensembl:ENSG00000163635 MIM:607640; Vega:OTTHUMG00000158763
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SCA7; OPCA3; ADCAII
    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 37-306 CAG repeats (near the N-terminus), compared to 4-35 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, Jul 2016]
    Orthologs
    Location:
    3p14.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (63864557..64003462)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (63849785..63989240)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene chromosome 3 open reading frame 49 Neighboring gene THO complex 7 Neighboring gene THOC7 antisense RNA 1 Neighboring gene PSMD6 antisense RNA 2 Neighboring gene uncharacterized LOC105377121 Neighboring gene proteasome 26S subunit, non-ATPase 6

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Chromatin modifying enzymes, organism-specific biosystem (from REACTOME)
      Chromatin modifying enzymes, organism-specific biosystemEukaryotic DNA is associated with histone proteins and organized into a complex nucleoprotein structure called chromatin. This structure decreases the accessibility of DNA but also helps to protect i...
    • Chromatin organization, organism-specific biosystem (from REACTOME)
      Chromatin organization, organism-specific biosystemChromatin organization refers to the composition and conformation of complexes between DNA, protein and RNA. It is determined by processes that result in the specification, formation or maintenance o...
    • Deubiquitination, organism-specific biosystem (from REACTOME)
      Deubiquitination, organism-specific biosystemUbiquitination, the modification of proteins by the covalent attachment of ubiquitin (Ub), is a key regulatory mechanism for many many cellular processes, including protein degradation by the 26S pro...
    • HATs acetylate histones, organism-specific biosystem (from REACTOME)
      HATs acetylate histones, organism-specific biosystemHistone acetyltransferases (HATs) involved in histone modifications are referred to as A-type or nuclear HATs. They can be grouped into at least four families based on sequence conservation within th...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Ub-specific processing proteases, organism-specific biosystem (from REACTOME)
      Ub-specific processing proteases, organism-specific biosystemUb-specific processing proteases (USPs) are the largest of the DUB families with more than 50 members in humans. The USP catalytic domain varies considerably in size and consists of six conserved mo...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ17787

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    thiol-dependent ubiquitinyl hydrolase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    histone deubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microtubule cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of insulin-like growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus organization TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    protein deubiquitination TAS
    Traceable Author Statement
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    visual perception TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear matrix IEA
    Inferred from Electronic Annotation
    more info
     
    nucleolus IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    ataxin-7
    Names
    spinocerebellar ataxia type 7 protein

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008227.1 RefSeqGene

      Range
      5001..143906
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000333.3NP_000324.1  ataxin-7 isoform a

      See identical proteins and their annotated locations for NP_000324.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (SCA7a) represents the predominant transcript and encodes isoform a.
      Source sequence(s)
      AC012557, AF032104, AJ000517, BI494079
      Consensus CDS
      CCDS43102.1
      UniProtKB/Swiss-Prot
      O15265
      UniProtKB/TrEMBL
      Q9UPD8
      Related
      ENSP00000295900.6, OTTHUMP00000213403, ENST00000295900.10, OTTHUMT00000352070
      Conserved Domains (1) summary
      pfam08313
      Location:333392
      SCA7; SCA7, zinc-binding domain
    2. NM_001128149.2NP_001121621.2  ataxin-7 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (SCA7c) differs in the 5' UTR and 5' coding region, and uses an alternate start codon, compared to variant SCA7a. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform a.
      Source sequence(s)
      AC012557, AK304062, BI494079, BP220889
      Consensus CDS
      CCDS46861.2
      UniProtKB/Swiss-Prot
      O15265
      Related
      ENSP00000428277.1, OTTHUMP00000227997, ENST00000484332.1, OTTHUMT00000352075
      Conserved Domains (1) summary
      pfam08313
      Location:188247
      SCA7; SCA7, zinc-binding domain
    3. NM_001177387.1NP_001170858.1  ataxin-7 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (SCA7b) includes an alternate exon that causes a frameshift in the 3' coding region, compared to variant SCA7a, resulting in an isoform (b) with a distinct and longer C-terminus, compared to isoform a. The 5' UTR is incomplete in this variant due to the presence of alternate splicing choices further upstream. There are no publicly available full-length transcripts representing this variant; it is represented based on data in PMID:12533095.
      Source sequence(s)
      AA398030, AC012557, AJ000517, BI494079
      Consensus CDS
      CCDS54603.1
      UniProtKB/Swiss-Prot
      O15265
      Related
      ENSP00000439585.1, ENST00000538065.5
      Conserved Domains (1) summary
      pfam08313
      Location:333392
      SCA7; SCA7, zinc-binding domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      63864557..64003462
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      63801559..63940470
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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