• Gene id: 25814

Gene Summary

• Gene Symbol: ATXN10   Gene   UCSC   Ensembl
• Aliases: E46L, HUMEEP, SCA10
• Gene name: ataxin 10
• Alternate names: ataxin-10, brain protein E46 homolog, spinocerebellar ataxia type 10 protein,
• Gene location: 22q13.31 (48852162: 48829755)     Exons: 17     NC_000012.12
• Gene summary(Entrez): 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 an ATTCT repeat from 9-32 copies to 8
• OMIM: 611150

Protein Summary

• Protein general information: Q9UBB4  
  • Name: Ataxin 10 (Brain protein E46 homolog) (Spinocerebellar ataxia type 10 protein)
  • Length: 475  
  • Mass: 53489
  • Tissue specificity: Expressed in the central nervous system. {ECO
• Sequence:

  MAAPRPPPARLSGVMVPAPIQDLEALRALTALFKEQRNRETAPRTIFQRVLDILKKSSHAVELACRDPSQVENLA
  SSLQLITECFRCLRNACIECSVNQNSIRNLDTIGVAVDLILLFRELRVEQESLLTAFRCGLQFLGNIASRNEDSQ
  SIVWVHAFPELFLSCLNHPDKKIVAYSSMILFTSLNHERMKELEENLNIAIDVIDAYQKHPESEWPFLIITDLFL
  KSPELVQAMFPKLNNQERVTLLDLMIAKITSDEPLTKDDIPVFLRHAELIASTFVDQCKTVLKLASEEPPDDEEA
  LATIRLLDVLCEMTVNTELLGYLQVFPGLLERVIDLLRVIHVAGKETTNIFSNCGCVRAEGDISNVANGFKSHLI
  RLIGNLCYKNKDNQDKVNELDGIPLILDNCNISDSNPFLTQWVIYAIRNLTEDNSQNQDLIAKMEEQGLADASLL
  KKVGFEVEKKGEKLILKSTRDTPKP

• Structural information:
  • Interpro: IPR011989  IPR016024  IPR019156  
  • STRING: ENSP00000252934
• Other Databases: GeneCards:  ATXN10  Malacards:  ATXN10

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0060271	cilium assembly	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0019899	enzyme binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0043025	neuronal cell body	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0031175	neuron projection development	IDA	biological process
GO:0030425	dendrite	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0007399	nervous system development	IMP	biological process
GO:0005615	extracellular space	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05017	Spinocerebellar ataxia

Diseases

Associated diseases	References
Spinocerebellar ataxia	KEGG:H00063
Spinocerebellar ataxia	KEGG:H00063
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq