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ATXN7 ataxin 7 [ Homo sapiens (human) ]

Gene ID: 6314, updated on 5-Mar-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_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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7. Zou X, et al. Mol Vis, 2021. PMID 34012225, Free PMC Article
  2. Deciphering the natural history of SCA7 in children. Bah MG, et al. Eur J Neurol, 2020 Nov. PMID 32558018
  3. 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. Hong JY, et al. Sci Rep, 2019 May 16. PMID 31097749, Free PMC Article
  4. Spinocerebellar Ataxia. Wentz S, et al. Ophthalmology, 2017 Jul. PMID 28645341
  5. 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

See all (113) 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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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
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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)

Genotypes

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

Gene LinkOut

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Chemical Information
Molecular Biology Databases
Research Materials
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