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    ATXN7 ataxin 7 [ Homo sapiens (human) ]

    Gene ID: 6314, updated on 12-Feb-2024

    Summary

    Official Symbol
    ATXN7provided by HGNC
    Official Full Name
    ataxin 7provided by HGNC
    Primary source
    HGNC:HGNC:10560
    See related
    Ensembl:ENSG00000163635 MIM:607640; AllianceGenome:HGNC:10560
    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; SGF73; 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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 8.0), testis (RPKM 6.7) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ATXN7 in Genome Data Viewer
    Location:
    3p14.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (63863144..64003462)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (63906771..64047076)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (63848820..63989138)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene cadherin related family member 18, pseudogene Neighboring gene chromosome 3 open reading frame 49 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14497 Neighboring gene THO complex subunit 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14498 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14499 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14500 Neighboring gene THOC7 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20031 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14501 Neighboring gene ataxin 7 repeat instability region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20032 Neighboring gene SCA7/ATXN7 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:63946089-63946588 Neighboring gene NANOG hESC enhancer GRCh37_chr3:63950216-63950720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20033 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20035 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:63956153-63956804 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:63958786-63959286 Neighboring gene NANOG hESC enhancer GRCh37_chr3:63986120-63986621 Neighboring gene PSMD6 antisense RNA 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:64008472-64009094 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:64009095-64009716 Neighboring gene uncharacterized LOC105377121 Neighboring gene proteasome 26S subunit, non-ATPase 6

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ17787

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of SAGA complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear matrix IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transcription factor TFTC complex NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    ataxin-7
    Names
    Autosomal dominant cerebellar ataxia with retinal degeneration
    SAGA associated factor 73 kDa homolog
    spinocerebellar ataxia type 7 protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      4311..143906
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_866

    mRNA and Protein(s)

    1. NM_000333.4NP_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, AC104162, AF032104, AJ000517, BI494079
      Consensus CDS
      CCDS43102.1
      UniProtKB/Swiss-Prot
      B4E207, E9PHP9, O15265, O75328, O75329, Q9Y6P8
      UniProtKB/TrEMBL
      A0A2R8YDD6
      Related
      ENSP00000295900.6, ENST00000295900.10
      Conserved Domains (2) summary
      PHA03247
      Location:403488
      PHA03247; large tegument protein UL36; Provisional
      pfam08313
      Location:333393
      SCA7; zinc-binding domain
    2. NM_001128149.3NP_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
      Consensus CDS
      CCDS46861.2
      UniProtKB/TrEMBL
      A0A2R8YDD6
      Related
      ENSP00000428277.1, ENST00000484332.1
      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/TrEMBL
      A0A2R8YDD6
      Related
      ENSP00000428067.2, ENST00000522345.2
      Conserved Domains (1) summary
      pfam08313
      Location:333392
      SCA7; SCA7, zinc-binding domain
    4. NM_001377405.1NP_001364334.1  ataxin-7 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC012557, AC104162
      Consensus CDS
      CCDS43102.1
      UniProtKB/Swiss-Prot
      B4E207, E9PHP9, O15265, O75328, O75329, Q9Y6P8
      UniProtKB/TrEMBL
      A0A2R8YDD6
      Related
      ENSP00000501377.1, ENST00000674280.1
      Conserved Domains (2) summary
      PHA03247
      Location:403488
      PHA03247; large tegument protein UL36; Provisional
      pfam08313
      Location:333393
      SCA7; zinc-binding domain
    5. NM_001377406.1NP_001364335.1  ataxin-7 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC012557
      Consensus CDS
      CCDS43102.1
      UniProtKB/Swiss-Prot
      B4E207, E9PHP9, O15265, O75328, O75329, Q9Y6P8
      UniProtKB/TrEMBL
      A0A2R8YDD6
      Related
      ENSP00000420234.1, ENST00000487717.5
      Conserved Domains (2) summary
      PHA03247
      Location:403488
      PHA03247; large tegument protein UL36; Provisional
      pfam08313
      Location:333393
      SCA7; zinc-binding domain

    RNA

    1. NR_165269.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC012557, AC104162
      Related
      ENST00000643464.1
    2. NR_165270.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC012557, AC104162

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      63863144..64003462
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      63906771..64047076
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)