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    ATXN7 ataxin 7 [ Homo sapiens (human) ]

    Gene ID: 6314, updated on 10-Dec-2024

    Summary

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    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
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    Genomic context

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    See ATXN7 in Genome Data Viewer
    Location:
    3p14.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (63863144..64003462)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (63906771..64047076)
    RS_2024_09 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 PSMD6 antisense RNA 1 Neighboring gene proteasome 26S subunit, non-ATPase 6

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Spinocerebellar Ataxia. Wentz S, et al. Ophthalmology, 2017 Jul. PMID 28645341
    2. Differential degradation of full-length and cleaved ataxin-7 fragments in a novel stable inducible SCA7 model. Yu X, et al. J Mol Neurosci, 2012 Jun. PMID 22367614, Free PMC Article
    3. A Complete Association of an intronic SNP rs6798742 with Origin of Spinocerebellar Ataxia Type 7-CAG Expansion Loci in the Indian and Mexican Population. Faruq M, et al. Ann Hum Genet, 2017 Sep. PMID 28597910
    4. [Role of chromatin alterations in neurodegeneration induced by polyglutamine-expanded ataxin-7]. Helmlinger D, et al. Med Sci (Paris), 2006 Aug-Sep. PMID 16962040
    5. The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice. Alves S, et al. Acta Neuropathol, 2014 Nov. PMID 24859968

    See all (117) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mutant KRAS-activated circATXN7 fosters tumor immunoescape by sensitizing tumor-specific T cells to activation-induced cell death.
      Title: Mutant KRAS-activated circATXN7 fosters tumor immunoescape by sensitizing tumor-specific T cells to activation-induced cell death.
    2. Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7.
      Title: Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7.
    3. Polyglutamine expanded Ataxin-7 induces DNA damage and alters FUS localization and function.
      Title: Polyglutamine expanded Ataxin-7 induces DNA damage and alters FUS localization and function.
    4. Deciphering the natural history of SCA7 in children.
      Title: Deciphering the natural history of SCA7 in children.
    5. Structural and dynamic studies reveal that the Ala-rich region of ataxin-7 initiates alpha-helix formation of the polyQ tract but suppresses its aggregation.
      Title: Structural and dynamic studies reveal that the Ala-rich region of ataxin-7 initiates α-helix formation of the polyQ tract but suppresses its aggregation.
    6. the SUMO pathway contributes to the clearance of aggregated ATXN7 and suggest that its deregulation might be associated with SCA7 disease progression.
      Title: SUMOylation by SUMO2 is implicated in the degradation of misfolded ataxin-7 via RNF4 in SCA7 models.
    7. Genetic testing showed the presence of 48 CAG repeats within one ATXN7 gene for spinocerebellar ataxia type 7 (SCA7).
      Title: Spinocerebellar Ataxia.
    8. we observed that carriers of either ATXN7 or TBP alleles with relatively large CAG repeat sizes in both alleles had a substantially increased risk of lifetime depression.
      Title: Large normal-range TBP and ATXN7 CAG repeat lengths are associated with increased lifetime risk of depression.
    9. The intronic SNP rs6798742 is associated with ATXN7 CAG-region expansion.
      Title: A Complete Association of an intronic SNP rs6798742 with Origin of Spinocerebellar Ataxia Type 7-CAG Expansion Loci in the Indian and Mexican Population.
    10. Results identified a chromosomal translocation between Rad51C and Ataxin-7 in colorectal tumors. The in-frame fusion transcript results in a fusion protein with molecular weight of 110 KDa. In vitro 5-Azacytidine treatment of colorectal tumor cells showed expression of the fusion gene is regulated by promoter methylation.
      Title: Rad51C-ATXN7 fusion gene expression in colorectal tumors.
    Submit: New GeneRIF Correction See all GeneRIFs (58)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Spinocerebellar ataxia 7
    MedGen: C0752125 OMIM: 164500 GeneReviews: Hereditary Ataxia Overview, Spinocerebellar Ataxia Type 7
    		Compare labs

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ17787

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in microtubule cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of microtubule depolymerization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nucleus organization TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of DNA repair NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of RNA splicing NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in visual perception TAS
    Traceable Author Statement
    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

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    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)

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    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_000333.4 → NP_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:403 → 488
      PHA03247; large tegument protein UL36; Provisional
      pfam08313
      Location:333 → 393
      SCA7; zinc-binding domain

    2. NM_001128149.3 → NP_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:188 → 247
      SCA7; SCA7, zinc-binding domain

    3. NM_001177387.1 → NP_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:333 → 392
      SCA7; SCA7, zinc-binding domain

    4. NM_001377405.1 → NP_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:403 → 488
      PHA03247; large tegument protein UL36; Provisional
      pfam08313
      Location:333 → 393
      SCA7; zinc-binding domain

    5. NM_001377406.1 → NP_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:403 → 488
      PHA03247; large tegument protein UL36; Provisional
      pfam08313
      Location:333 → 393
      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_2024_08

    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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O15265.1 GenPept UniProtKB/Swiss-Prot:O15265

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
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    Tools
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