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ATXN7 ataxin 7 [ Homo sapiens (human) ]

Gene ID: 6314, updated on 8-Jul-2021

Summary

Official Symbol
ATXN7provided by HGNC
Official Full Name
ataxin 7provided by HGNC
Primary source
HGNC:HGNC:10560
See related
Ensembl:ENSG00000163635 MIM:607640
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

See ATXN7 in Genome Data Viewer
Location:
3p14.1
Exon count:
22
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (63863144..64003462)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (63848820..63989138)

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 ataxin 7 repeat instability region Neighboring gene SCA7/ATXN7 antisense RNA 1 Neighboring gene PSMD6 antisense RNA 2 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

Homology

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
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 

General protein information

Preferred Names
ataxin-7
Names
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_000333.4NP_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
    O15265
    UniProtKB/TrEMBL
    Q9UPD8
    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/Swiss-Prot
    O15265
    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/Swiss-Prot
    O15265
    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
    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
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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