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Q156A1

- ATX8_HUMAN

UniProt

Q156A1 - ATX8_HUMAN

Protein

Ataxin-8

Gene

ATXN8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
  1. Functioni

    GO - Biological processi

    1. cell death Source: UniProtKB-KW

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ataxin-8
    Alternative name(s):
    Protein 1C2
    Gene namesi
    Name:ATXN8
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Unplaced

    Organism-specific databases

    HGNCiHGNC:32925. ATXN8.

    Subcellular locationi

    Nucleus 1 Publication
    Note: Present in SCA8-specific 1C2-positive intranuclear inclusions.

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Spinocerebellar ataxia 8 (SCA8) [MIM:608768]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA8 is an autosomal dominant cerebellar ataxia (ADCA). It is caused by expansion of a CAG repeat in ATXN8, which is translated into a nearly pure polyglutamine protein which forms 1C2-positive inclusions in Purkinje cells and other neurons.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Neurodegeneration, Spinocerebellar ataxia

    Organism-specific databases

    MIMi608768. phenotype.
    Orphaneti98760. Spinocerebellar ataxia type 8.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 8080Ataxin-8PRO_0000271118Add
    BLAST

    Expressioni

    Tissue specificityi

    Specifically found in brains from SCA8 patients (at protein level).1 Publication

    Gene expression databases

    GenevestigatoriQ156A1.

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi2 – 8079Poly-GlnAdd
    BLAST

    Sequencei

    Sequence statusi: Complete.

    Q156A1-1 [UniParc]FASTAAdd to Basket

    « Hide

    MQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ   50
    QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ 80
    Length:80
    Mass (Da):10,272
    Last modified:July 25, 2006 - v1
    Checksum:i128C59028C4D7D66
    GO

    Polymorphismi

    The length of the poly-Gln expansion is variable and may contain one or more interruptions that introduce arginines into the polyglutamine repeat tract.

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    DQ641254 mRNA. Translation: ABG34539.1.
    UniGeneiHs.532632.
    Hs.645205.

    Keywords - Coding sequence diversityi

    Polymorphism, Triplet repeat expansion

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    DQ641254 mRNA. Translation: ABG34539.1 .
    UniGenei Hs.532632.
    Hs.645205.

    3D structure databases

    ModBasei Search...
    MobiDBi Search...

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Organism-specific databases

    GeneCardsi GC13U900338.
    GeneReviewsi ATXN8.
    HGNCi HGNC:32925. ATXN8.
    MIMi 608768. phenotype.
    613289. gene.
    neXtProti NX_Q156A1.
    Orphaneti 98760. Spinocerebellar ataxia type 8.
    GenAtlasi Search...

    Miscellaneous databases

    PROi Q156A1.
    SOURCEi Search...

    Gene expression databases

    Genevestigatori Q156A1.

    Family and domain databases

    ProtoNeti Search...

    Publicationsi

    1. "Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8."
      Moseley M.L., Zu T., Ikeda Y., Gao W., Mosemiller A.K., Daughters R.S., Chen G., Weatherspoon M.R., Clark H.B., Ebner T.J., Day J.W., Ranum L.P.W.
      Nat. Genet. 38:758-769(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INVOLVEMENT IN SCA8, POLYMORPHISM.

    Entry informationi

    Entry nameiATX8_HUMAN
    AccessioniPrimary (citable) accession number: Q156A1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 9, 2007
    Last sequence update: July 25, 2006
    Last modified: October 1, 2014
    This is version 40 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Miscellaneous

    It is unknown whether this protein exists in non-SCA8 individuals.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 13
      Human chromosome 13: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

    External Data

    Dasty 3