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Atxn7 ataxin 7 [ Mus musculus (house mouse) ]

Gene ID: 246103, updated on 6-Jun-2024

Summary

Official Symbol
Atxn7provided by MGI
Official Full Name
ataxin 7provided by MGI
Primary source
MGI:MGI:2179277
See related
Ensembl:ENSMUSG00000021738 AllianceGenome:MGI:2179277
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Sca7; ataxin-7; A430107N12Rik
Summary
Enables chromatin binding activity. Acts upstream of or within negative regulation of insulin-like growth factor receptor signaling pathway; negative regulation of phosphorylation; and positive regulation of transcription by RNA polymerase II. Located in cytoplasm and nucleus. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; peripheral nervous system; and retina. Used to study spinocerebellar ataxia type 7. Human ortholog(s) of this gene implicated in spinocerebellar ataxia type 7. Orthologous to human ATXN7 (ataxin 7). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in lung adult (RPKM 4.5), bladder adult (RPKM 4.4) and 28 other tissues See more
Orthologs
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Genomic context

See Atxn7 in Genome Data Viewer
Location:
14 A1; 14 7.08 cM
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (8358358..8508324, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (13961283..14107316)

Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 2 subfamily T member 6 Neighboring gene proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 Neighboring gene STARR-seq mESC enhancer starr_35986 Neighboring gene predicted gene, 53821 Neighboring gene STARR-seq mESC enhancer starr_35982 Neighboring gene STARR-seq mESC enhancer starr_35981 Neighboring gene THO complex 7 Neighboring gene predicted gene 11100 Neighboring gene STARR-seq mESC enhancer starr_35980 Neighboring gene STARR-seq mESC enhancer starr_35979 Neighboring gene STARR-seq mESC enhancer starr_35978 Neighboring gene cadherin related family member 18 Neighboring gene zinc finger, AN1-type domain 5 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Targeted (2)  1 citation

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
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 cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
located_in microtubule cytoskeleton ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
part_of transcription factor TFTC complex NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
ataxin-7
Names
spinocerebellar ataxia 7 homolog
spinocerebellar ataxia type 7 protein homolog

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.

mRNA and Protein(s)

  1. NM_001427056.1NP_001413985.1  ataxin-7 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC116479
    UniProtKB/TrEMBL
    A0A286YDW9, B2RQB7
  2. NM_001427057.1NP_001413986.1  ataxin-7 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC116479
  3. NM_001427058.1NP_001413987.1  ataxin-7 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC116479
  4. NM_139227.5NP_631973.3  ataxin-7 isoform 2

    See identical proteins and their annotated locations for NP_631973.3

    Status: VALIDATED

    Source sequence(s)
    AC116479
    Consensus CDS
    CCDS26823.1
    UniProtKB/Swiss-Prot
    E9QPX9, Q8BL17, Q8R4I1
    UniProtKB/TrEMBL
    B2RQB7
    Related
    ENSMUSP00000022257.3, ENSMUST00000022257.4
    Conserved Domains (1) summary
    pfam08313
    Location:319378
    SCA7; SCA7, zinc-binding domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000080.7 Reference GRCm39 C57BL/6J

    Range
    8358358..8508324 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006518018.5XP_006518081.1  ataxin-7 isoform X2

    UniProtKB/TrEMBL
    B2RQB7
    Conserved Domains (3) summary
    PHA03247
    Location:359593
    PHA03247; large tegument protein UL36; Provisional
    pfam08313
    Location:296355
    SCA7; zinc-binding domain
    pfam15912
    Location:367445
    VIR_N; Virilizer, N-terminal
  2. XM_036158598.1XP_036014491.1  ataxin-7 isoform X3

    UniProtKB/TrEMBL
    B2RQB7
    Conserved Domains (2) summary
    PHA03247
    Location:276350
    PHA03247; large tegument protein UL36; Provisional
    pfam08313
    Location:202261
    SCA7; zinc-binding domain
  3. XM_006518017.4XP_006518080.1  ataxin-7 isoform X1

    See identical proteins and their annotated locations for XP_006518080.1

    UniProtKB/TrEMBL
    A0A286YDW9, B2RQB7
    Related
    ENSMUSP00000153613.2, ENSMUST00000223714.2
    Conserved Domains (3) summary
    PHA03247
    Location:382616
    PHA03247; large tegument protein UL36; Provisional
    pfam08313
    Location:319378
    SCA7; zinc-binding domain
    pfam15912
    Location:390468
    VIR_N; Virilizer, N-terminal

RNA

  1. XR_004938401.1 RNA Sequence