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Q156A1 (ATX8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 39. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Ataxin-8
Alternative name(s):
Protein 1C2
Gene names
Name:ATXN8
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length80 AA.
Sequence statusComplete.
Protein existenceEvidence 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

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1

Miscellaneous

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

Ontologies

Keywords
   Cellular componentNucleus
   Coding sequence diversityPolymorphism
Triplet repeat expansion
   DiseaseNeurodegeneration
Spinocerebellar ataxia
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcell death

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 8080Ataxin-8
PRO_0000271118

Regions

Compositional bias2 – 8079Poly-Gln

Sequences

Sequence LengthMass (Da)Tools
Q156A1 [UniParc].

Last modified July 25, 2006. Version 1.
Checksum: 128C59028C4D7D66

FASTA8010,272
        10         20         30         40         50         60 
MQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ 

        70         80 
QQQQQQQQQQ QQQQQQQQQQ 

« Hide

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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INVOLVEMENT IN SCA8, POLYMORPHISM.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
DQ641254 mRNA. Translation: ABG34539.1.
UniGeneHs.532632.
Hs.645205.

3D structure databases

ModBaseSearch...
MobiDBSearch...

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Organism-specific databases

GeneCardsGC13U900338.
GeneReviewsATXN8.
HGNCHGNC:32925. ATXN8.
MIM608768. phenotype.
613289. gene.
neXtProtNX_Q156A1.
Orphanet98760. Spinocerebellar ataxia type 8.
GenAtlasSearch...

Gene expression databases

GenevestigatorQ156A1.

Family and domain databases

ProtoNetSearch...

Other

PROQ156A1.
SOURCESearch...

Entry information

Entry nameATX8_HUMAN
AccessionPrimary (citable) accession number: Q156A1
Entry history
Integrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: July 25, 2006
Last modified: July 9, 2014
This is version 39 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 13

Human chromosome 13: entries, gene names and cross-references to MIM