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Protein

Ataxin-8

Gene

ATXN8

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

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 Componenti: 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
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Spinocerebellar ataxia 8 (SCA8)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionSpinocerebellar 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.

See also OMIM:608768

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

        10         20         30         40         50
MQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ
60 70 80
QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ
Length:80
Mass (Da):10,272
Last modified:July 24, 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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
Links Updated
DQ641254 mRNA. Translation: ABG34539.1.
UniGeneiHs.532632.
Hs.645205.

3D structure databases

ModBaseiSearch...
MobiDBiSearch...

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Organism-specific databases

GeneCardsiGC13U900338.
GeneReviewsiATXN8.
HGNCiHGNC:32925. ATXN8.
MIMi608768. phenotype.
613289. gene.
neXtProtiNX_Q156A1.
Orphaneti98760. Spinocerebellar ataxia type 8.
GenAtlasiSearch...

Miscellaneous databases

PROiQ156A1.
SOURCEiSearch...

Gene expression databases

GenevestigatoriQ156A1.

Family and domain databases

ProtoNetiSearch...

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(2005) [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 8, 2007
Last sequence update: July 24, 2006
Last modified: January 6, 2015
This is version 42 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.