ID   ATX8_HUMAN              Reviewed;          80 AA.
AC   Q156A1;
DT   09-JAN-2007, integrated into UniProtKB/Swiss-Prot.
DT   25-JUL-2006, sequence version 1.
DT   13-SEP-2023, entry version 64.
DE   RecName: Full=Ataxin-8;
DE   AltName: Full=Protein 1C2;
GN   Name=ATXN8;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION, TISSUE SPECIFICITY,
RP   INVOLVEMENT IN SCA8, AND POLYMORPHISM.
RX   PubMed=16804541; DOI=10.1038/ng1827;
RA   Moseley M.L., Zu T., Ikeda Y., Gao W., Mosemiller A.K., Daughters R.S.,
RA   Chen G., Weatherspoon M.R., Clark H.B., Ebner T.J., Day J.W., Ranum L.P.W.;
RT   "Bidirectional expression of CUG and CAG expansion transcripts and
RT   intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8.";
RL   Nat. Genet. 38:758-769(2006).
CC   -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16804541}.
CC       Note=Present in SCA8-specific 1C2-positive intranuclear inclusions.
CC   -!- TISSUE SPECIFICITY: Specifically found in brains from SCA8 patients (at
CC       protein level). {ECO:0000269|PubMed:16804541}.
CC   -!- POLYMORPHISM: The length of the poly-Gln expansion is variable and may
CC       contain one or more interruptions that introduce arginines into the
CC       polyglutamine repeat tract.
CC   -!- DISEASE: Spinocerebellar ataxia 8 (SCA8) [MIM:608768]: Spinocerebellar
CC       ataxia is a clinically and genetically heterogeneous group of
CC       cerebellar disorders. Patients show progressive incoordination of gait
CC       and often poor coordination of hands, speech and eye movements, due to
CC       degeneration of the cerebellum with variable involvement of the
CC       brainstem and spinal cord. SCA8 is an autosomal dominant cerebellar
CC       ataxia (ADCA). It is caused by expansion of a CAG repeat in ATXN8,
CC       which is translated into a nearly pure polyglutamine protein which
CC       forms 1C2-positive inclusions in Purkinje cells and other neurons.
CC       {ECO:0000269|PubMed:16804541}. Note=The disease is caused by variants
CC       affecting the gene represented in this entry.
CC   -!- MISCELLANEOUS: It is unknown whether this protein exists in non-SCA8
CC       individuals.
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DR   EMBL; DQ641254; ABG34539.1; -; mRNA.
DR   AlphaFoldDB; Q156A1; -.
DR   SMR; Q156A1; -.
DR   BioMuta; HGNC:32925; -.
DR   MassIVE; Q156A1; -.
DR   PeptideAtlas; Q156A1; -.
DR   AGR; HGNC:32925; -.
DR   GeneCards; ATXN8; -.
DR   GeneReviews; ATXN8; -.
DR   HGNC; HGNC:32925; ATXN8.
DR   MalaCards; ATXN8; -.
DR   MIM; 608768; phenotype.
DR   MIM; 613289; gene.
DR   neXtProt; NX_Q156A1; -.
DR   Orphanet; 98760; Spinocerebellar ataxia type 8.
DR   InParanoid; Q156A1; -.
DR   Pharos; Q156A1; Tdark.
DR   PRO; PR:Q156A1; -.
DR   Proteomes; UP000005640; Unplaced.
DR   RNAct; Q156A1; Protein.
DR   GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
PE   1: Evidence at protein level;
KW   Neurodegeneration; Nucleus; Reference proteome; Spinocerebellar ataxia;
KW   Triplet repeat expansion.
FT   CHAIN           1..80
FT                   /note="Ataxin-8"
FT                   /id="PRO_0000271118"
SQ   SEQUENCE   80 AA;  10272 MW;  128C59028C4D7D66 CRC64;
     MQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ
     QQQQQQQQQQ QQQQQQQQQQ
//