Reviewed,
UniProtKB/Swiss-Prot Q156A1 (ATX8_HUMAN)
Last modified
November 3, 2009.
Version 27.
History...
Clusters with 100%,
90%,
50% identity |
Documents (2) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Ataxin-8 Alternative name(s): Protein 1C2 | ||
| Gene names |
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| Organism | Homo sapiens (Human) [Complete proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 80 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Subcellular location | Nucleus. Note: Present in SCA8-specific 1C2-positive intranuclear inclusions. Ref.1 |
| Tissue specificity | Specifically found in brains from SCA8 patients (at protein level). Ref.1 |
| Polymorphism | The length of the poly-Gln expansion is variable and may contain one or more interruptions that introduce arginines into the polyglutamine repeat tract. |
| Involvement in disease | Defects in ATXN8 are the cause of spinocerebellar ataxia type 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 a CAG repeat expansion in ATXN8, which is translated into a nearly pure polyglutamine protein which forms 1C2-positive inclusions in Purkinje cells and other neurons. Ref.1 |
| Miscellaneous | It is unknown whether this protein exists in non-SCA8 individuals. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Nucleus |
| Coding sequence diversity | Polymorphism Triplet repeat expansion |
| Disease | Neurodegeneration Spinocerebellar ataxia |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Biological process | cell death Inferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Complete GO annotation... | |
Sequence annotation (Features)
Sequences
References
| [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: 16804541] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INVOLVEMENT IN SCA8, POLYMORPHISM. |
Cross-references
Sequence databases | |
|---|---|
| DQ641254 mRNA. Translation: ABG34539.1. | |
| IPI | IPI00816562. |
| UniGene | Hs.645205 |
3D structure databases | |
| ModBase | Search... |
Organism-specific databases | |
| GeneCards | GC13U900338. |
| HGNC | HGNC:32925. ATXN8. |
| MIM | 608768. phenotype. |
| Orphanet | 98760. Ataxia, spinocerebellar, type 8. 99. Autosomal dominant cerebellar ataxia. |
| GenAtlas | Search... |
Gene expression databases | |
| Genevestigator | Q156A1. |
Family and domain databases | |
| ProtoNet | Search... |
Other Resources | |
| SOURCE | Search... |
Entry information
| Entry name | ATX8_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q156A1 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 13 Human chromosome 13: entries, gene names and cross-references to MIM |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |

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