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Aliases for ATXN10 Gene

Aliases for ATXN10 Gene

  • Ataxin 10 2 3
  • SCA10 3 4 6
  • Spinocerebellar Ataxia Type 10 Protein 3 4
  • Brain Protein E46 Homolog 3 4
  • Spinocerebellar Ataxia 10 2
  • Ataxin-10 3
  • HUMEEP 3
  • E46L 3

External Ids for ATXN10 Gene

Previous HGNC Symbols for ATXN10 Gene

  • SCA10

Previous GeneCards Identifiers for ATXN10 Gene

  • GC22P044388
  • GC22P046067
  • GC22P029013

Summaries for ATXN10 Gene

Entrez Gene Summary for ATXN10 Gene

  • This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of a pentanucleotide repeat in an intronic region of this locus has been associated with spinocerebellar ataxia, type 10. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]

GeneCards Summary for ATXN10 Gene

ATXN10 (Ataxin 10) is a Protein Coding gene. Diseases associated with ATXN10 include spinocerebellar ataxia 10 and spinocerebellar ataxia type10. Among its related pathways are Akt Signaling and CDK-mediated phosphorylation and removal of Cdc6. GO annotations related to this gene include identical protein binding.

UniProtKB/Swiss-Prot for ATXN10 Gene

  • Necessary for the survival of cerebellar neurons. Induces neuritogenesis by activating the Ras-MAP kinase pathway. May play a role in the maintenance of a critical intracellular glycosylation level and homeostasis.

Gene Wiki entry for ATXN10 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATXN10 Gene

Genomics for ATXN10 Gene

Regulatory Elements for ATXN10 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ATXN10 Gene

Start:
45,671,798 bp from pter
End:
45,845,307 bp from pter
Size:
173,510 bases
Orientation:
Plus strand

Genomic View for ATXN10 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATXN10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATXN10 Gene

Proteins for ATXN10 Gene

  • Protein details for ATXN10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBB4-ATX10_HUMAN
    Recommended name:
    Ataxin-10
    Protein Accession:
    Q9UBB4
    Secondary Accessions:
    • A6NLC4
    • B4DG05
    • O14998
    • O15009
    • Q6I9X4

    Protein attributes for ATXN10 Gene

    Size:
    475 amino acids
    Molecular mass:
    53489 Da
    Quaternary structure:
    • Homooligomer (By similarity). Interacts with OGT (By similarity). Interacts with GNB2. Interacts with IQCB1.

    Alternative splice isoforms for ATXN10 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATXN10 Gene

Proteomics data for ATXN10 Gene at MOPED

Post-translational modifications for ATXN10 Gene

  • Ubiquitination at Lys34, Lys56, Lys237, Lys262, Lys288, Lys371, Lys438, and Lys452
  • Modification sites at PhosphoSitePlus

Other Protein References for ATXN10 Gene

No data available for DME Specific Peptides for ATXN10 Gene

Domains for ATXN10 Gene

Gene Families for ATXN10 Gene

HGNC:

Protein Domains for ATXN10 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UBB4

UniProtKB/Swiss-Prot:

ATX10_HUMAN :
  • Q9UBB4
Family:
  • Belongs to the ataxin-10 family.
genes like me logo Genes that share domains with ATXN10: view

Function for ATXN10 Gene

Molecular function for ATXN10 Gene

UniProtKB/Swiss-Prot Function: Necessary for the survival of cerebellar neurons. Induces neuritogenesis by activating the Ras-MAP kinase pathway. May play a role in the maintenance of a critical intracellular glycosylation level and homeostasis.

Gene Ontology (GO) - Molecular Function for ATXN10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005488 binding --
GO:0005515 protein binding IPI 16498633
GO:0042802 identical protein binding IEA --
genes like me logo Genes that share ontologies with ATXN10: view

Phenotypes for ATXN10 Gene

genes like me logo Genes that share phenotypes with ATXN10: view

Animal Model Products

CRISPR Products

miRNA for ATXN10 Gene

miRTarBase miRNAs that target ATXN10

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATXN10

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for ATXN10 Gene

Localization for ATXN10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATXN10 Gene

Cytoplasm, perinuclear region.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATXN10 Gene COMPARTMENTS Subcellular localization image for ATXN10 gene
Compartment Confidence
cytosol 2
mitochondrion 2
nucleus 1

Gene Ontology (GO) - Cellular Components for ATXN10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 23580065
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IDA --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with ATXN10: view

Pathways for ATXN10 Gene

genes like me logo Genes that share pathways with ATXN10: view

Pathways by source for ATXN10 Gene

2 Qiagen pathways for ATXN10 Gene

Gene Ontology (GO) - Biological Process for ATXN10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007399 nervous system development IMP 16385455
GO:0008219 cell death --
GO:0031175 neuron projection development IDA 16498633
genes like me logo Genes that share ontologies with ATXN10: view

Transcripts for ATXN10 Gene

Unigene Clusters for ATXN10 Gene

Ataxin 10:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATXN10

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATXN10 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18a ·
SP1: - - - - - - - - - -
SP2: - - - - - - - - -
SP3: - -
SP4: -
SP5: - - - - - -
SP6: - - -
SP7:
SP8: -
SP9: -
SP10: - - - -

ExUns: 18b · 18c · 18d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for ATXN10 Gene

GeneLoc Exon Structure for
ATXN10
ECgene alternative splicing isoforms for
ATXN10

Expression for ATXN10 Gene

mRNA expression in normal human tissues for ATXN10 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ATXN10 Gene

SOURCE GeneReport for Unigene cluster for ATXN10 Gene Hs.475125

mRNA Expression by UniProt/SwissProt for ATXN10 Gene

Q9UBB4-ATX10_HUMAN
Tissue specificity: Expressed in the central nervous system.
genes like me logo Genes that share expressions with ATXN10: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for ATXN10 Gene

Orthologs for ATXN10 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ATXN10 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATXN10 35
  • 99.51 (n)
  • 99.58 (a)
ATXN10 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATXN10 35
  • 86.15 (n)
  • 88.4 (a)
ATXN10 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATXN10 35
  • 88.44 (n)
  • 90.49 (a)
ATXN10 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atxn10 35
  • 83.23 (n)
  • 82.95 (a)
Atxn10 16
Atxn10 36
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATXN10 36
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATXN10 36
  • 48 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atxn10 35
  • 83.3 (n)
  • 84.63 (a)
chicken
(Gallus gallus)
Aves ATXN10 35
  • 65.59 (n)
  • 55.48 (a)
ATXN10 36
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATXN10 36
  • 51 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.6373 35
tropical clawed frog
(Silurana tropicalis)
Amphibia atxn10 35
  • 57.86 (n)
  • 50.34 (a)
zebrafish
(Danio rerio)
Actinopterygii atxn10 35
  • 51.86 (n)
  • 40.4 (a)
atxn10 36
  • 36 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CTR86 36
  • 17 (a)
OneToOne
CTR86 38
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6792 36
  • 28 (a)
OneToOne
Species with no ortholog for ATXN10:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ATXN10 Gene

ENSEMBL:
Gene Tree for ATXN10 (if available)
TreeFam:
Gene Tree for ATXN10 (if available)

Paralogs for ATXN10 Gene

Selected SIMAP similar genes for ATXN10 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ATXN10: view

No data available for Paralogs for ATXN10 Gene

Variants for ATXN10 Gene

Sequence variations from dbSNP and Humsavar for ATXN10 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs80521 -- 45,845,780(+) CAGTC(A/G)GCTCT downstream-variant-500B
rs80557 -- 45,761,401(+) AGTGC(C/T)CTGTA intron-variant
rs134858 -- 45,670,086(+) GACTG(A/G)TCTTG upstream-variant-2KB
rs134859 -- 45,670,163(+) ACCGT(C/G)TCTGG upstream-variant-2KB
rs134860 -- 45,672,861(+) TTCTC(C/T)AGGCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATXN10 Gene

Variant ID Type Subtype PubMed ID
nsv915299 CNV Loss 21882294
dgv73n68 CNV Gain 17160897
nsv915300 CNV Loss 21882294
esv2724410 CNV Deletion 23290073
nsv527209 CNV Loss 19592680
dgv5004n71 CNV Loss 21882294

Relevant External Links for ATXN10 Gene

HapMap Linkage Disequilibrium report
ATXN10
Human Gene Mutation Database (HGMD)
ATXN10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATXN10 Gene

Disorders for ATXN10 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (4) Diseases for ATXN10 Gene including...

Search for ATXN10 Gene in MalaCards »

(1) OMIM Diseases for ATXN10 Gene (611150)

UniProtKB/Swiss-Prot

ATX10_HUMAN
  • Spinocerebellar ataxia 10 (SCA10) [MIM:603516]: 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. SCA10 is an autosomal dominant cerebellar ataxia (ADCA). {ECO:0000269 PubMed:11017075}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in ATXN1 may be a cause of nephronophthisis a chronic tubulo-interstitial nephropathy taht leads to anemia, polyuria, polydipsia, isosthenuria and death in uremia.

(2) Novoseek inferred disease relationships for ATXN10 Gene

Disease -log(P) Hits PubMed IDs
spinocerebellar ataxias 93.3 9
neurodegenerative diseases 61.3 3

Relevant External Links for ATXN10

GeneTests
ATXN10
GeneReviews
ATXN10
Genetic Association Database (GAD)
ATXN10
Human Genome Epidemiology (HuGE) Navigator
ATXN10
genes like me logo Genes that share disorders with ATXN10: view

Publications for ATXN10 Gene

  1. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. (PMID: 11017075) Matsuura T. … Ashizawa T. (Nat. Genet. 2000) 3 4 23
  2. Ataxin-10, the spinocerebellar ataxia type 10 neurodegenerative disorder protein, is essential for survival of cerebellar neurons. (PMID: 15201271) Maerz P. … Ozbek S. (J. Biol. Chem. 2004) 3 4 23
  3. Ataxin 10 induces neuritogenesis via interaction with G-protein beta2 subunit. (PMID: 16498633) Waragai M. … Ashizawa T. (J. Neurosci. Res. 2006) 3 4 23
  4. Unstable spinocerebellar ataxia type 10 (ATTCT*(AGAAT) repeats are associated with aberrant replication at the ATX10 locus and replication origin-dependent expansion at an ectopic site in human cells. (PMID: 17846122) Liu G. … Leffak M. (Mol. Cell. Biol. 2007) 3 23
  5. [Molecular and genetic analysis of spinocerebellar ataxia type 10 (SCA10)]. (PMID: 18386626) Matsuura T. (Rinsho Shinkeigaku 2008) 3 23

Products for ATXN10 Gene

Sources for ATXN10 Gene

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