Reviewed, UniProtKB/Swiss-Prot Q156A1 (ATX8_HUMAN)

Names and origin

Protein names

Recommended name:
    Ataxin-8
Alternative name(s):
    Protein 1C2

Gene names

Name:

ATXN8

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)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 80	80	Ataxin-8		PRO_0000271118
Regions
	Compositional bias	2 – 80	79	Poly-Gln

Sequences

	Sequence		Length	Mass (Da)
	Q156A1-1 [UniParc]. Last modified July 25, 2006. Version 1. Checksum: 128C59028C4D7D66	FASTA	80	10,272
	10 20 30 40 50 60 MQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ 70 80 QQQQQQQQQQ QQQQQQQQQQ

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.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBLGenBankDDBJ	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

Integrated into UniProtKB/Swiss-Prot:	January 9, 2007
Last sequence update:	July 25, 2006
Last modified:	November 3, 2009
This is version 27 of the entry and version 1 of the sequence. [Complete history]

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.