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Aliases for ATXN10 Gene

Aliases for ATXN10 Gene

  • Ataxin 10 2 3 5
  • Spinocerebellar Ataxia Type 10 Protein 3 4
  • Brain Protein E46 Homolog 3 4
  • SCA10 3 4
  • Spinocerebellar Ataxia 10 2
  • 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 Chks in Checkpoint Regulation and Akt Signaling. GO annotations related to this gene include identical protein binding and 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

Enhancers for ATXN10 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ATXN10 on UCSC Golden Path with GeneCards custom track

Promoters for ATXN10 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ATXN10 on UCSC Golden Path with GeneCards custom track

Genomic Location for ATXN10 Gene

Chromosome:
22
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

Genes around ATXN10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATXN10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 34, Lys 56, Lys 237, Lys 262, Lys 288, Lys 371, Lys 438, and Lys 452
  • Modification sites at PhosphoSitePlus

Other Protein References for ATXN10 Gene

No data available for DME Specific Peptides for ATXN10 Gene

Domains & Families for ATXN10 Gene

Gene Families for ATXN10 Gene

Protein Domains for ATXN10 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UBB4

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for ATXN10 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ATXN10 Gene

MGI Knock Outs for ATXN10:

Animal Model Products

miRNA for ATXN10 Gene

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
extracellular 5
plasma membrane 5
cytosol 4
mitochondrion 2
nucleus 1

Gene Ontology (GO) - Cellular Components for ATXN10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA --
GO:0016020 membrane IDA 19946888
GO:0030425 dendrite IDA 15201271
GO:0043025 neuronal cell body IDA 15201271
GO:0048471 perinuclear region of cytoplasm IDA 15201271
genes like me logo Genes that share ontologies with ATXN10: view

Pathways & Interactions 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

SIGNOR curated interactions for ATXN10 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for ATXN10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031175 neuron projection development IDA 16498633
genes like me logo Genes that share ontologies with ATXN10: view

Drugs & Compounds for ATXN10 Gene

No Compound Related Data Available

Transcripts for ATXN10 Gene

Unigene Clusters for ATXN10 Gene

Ataxin 10:
Representative Sequences:

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

Protein differential expression in normal tissues from HIPED for ATXN10 Gene

This gene is overexpressed in Bone (46.4).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with ATXN10: view

Protein tissue co-expression partners for ATXN10 Gene

- Elite partner

Primer 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
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
chimpanzee
(Pan troglodytes)
Mammalia ATXN10 35
  • 99.51 (n)
  • 99.58 (a)
ATXN10 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atxn10 35
  • 83.3 (n)
  • 84.63 (a)
oppossum
(Monodelphis domestica)
Mammalia ATXN10 36
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATXN10 36
  • 48 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia atxn10 35
  • 57.86 (n)
  • 50.34 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6373 35
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

(1) 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
rs80521 -- 45,845,780(+) CAGTC(A/G)GCTCT downstream-variant-500B
rs80557 -- 45,761,401(+) AGTGC(C/T)CTGTA intron-variant
rs2097428 -- 45,796,144(+) gggag(G/T)tctct intron-variant
rs2157370 -- 45,700,483(+) taata(C/G)agttc intron-variant
rs134858 -- 45,670,086(+) GACTG(A/G)TCTTG upstream-variant-2KB

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

Variation tolerance for ATXN10 Gene

Residual Variation Intolerance Score: 28.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.21; 24.37% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATXN10 Gene

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

(9) MalaCards diseases for ATXN10 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia 10
  • spinocerebellar ataxia type 10
spinocerebellar ataxia type10
  • spinocerebellar ataxia 10
autosomal dominant cerebellar ataxia
  • cardiac arrest
cerebellar ataxia
  • hemosiderosis, systemic, due to aceruloplasminemia
ataxia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ATX10_HUMAN
  • Note=Defects in ATXN1 may be a cause of nephronophthisis a chronic tubulo-interstitial nephropathy that leads to anemia, polyuria, polydipsia, isosthenuria and death in uremia. {ECO:0000269 PubMed:21565611}.
  • 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.

Relevant External Links for ATXN10

Genetic Association Database (GAD)
ATXN10
Human Genome Epidemiology (HuGE) Navigator
ATXN10
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATXN10
genes like me logo Genes that share disorders with ATXN10: view

No data available for Genatlas for ATXN10 Gene

Publications for ATXN10 Gene

  1. Ataxin 10 induces neuritogenesis via interaction with G-protein beta2 subunit. (PMID: 16498633) Waragai M. … Ashizawa T. (J. Neurosci. Res. 2006) 3 4 23 67
  2. Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10. (PMID: 19936807) Keren B. … HAcron D. (Neurogenetics 2010) 3 23
  3. Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10). (PMID: 19234597) Almeida T. … Silveira I. (PLoS ONE 2009) 3 23
  4. [Screening cellular proteins interacted with M2 protein of influenza A virus by coimmunoprecipitation]. (PMID: 19835171) Li Y. … Yan J. (Wei Sheng Wu Xue Bao 2009) 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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