Homo sapiens Gene: ATXN10
Summary
InnateDB Gene IDBG-11670.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ATXN10
Gene Name ataxin 10
Synonyms E46L; HUMEEP; SCA10
Species Homo sapiens
Ensembl Gene ENSG00000130638
Encoded Proteins
ataxin 10
ataxin 10
ataxin 10
ataxin 10
ataxin 10
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 22:45671798-45845307
Strand Forward strand
Band q13.31
Transcripts
ENST00000252934 ENSP00000252934
ENST00000381061 ENSP00000370449
ENST00000402380 ENSP00000385624
ENST00000435026 ENSP00000391117
ENST00000451241 ENSP00000414080
ENST00000498009
ENST00000470722
ENST00000476998
ENST00000483549
ENST00000493643
ENST00000464482
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 22 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 22 [view]
Protein-Protein 22 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005488 binding
GO:0005515 protein binding
GO:0042802 identical protein binding
Biological Process
GO:0007399 nervous system development
GO:0008219 cell death
GO:0031175 neuron projection development
Cellular Component
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0030425 dendrite
GO:0043025 neuronal cell body
GO:0048471 perinuclear region of cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 25814
UniGene Hs.475125 Hs.736820
RefSeq NM_001167621 NM_013236
HUGO HGNC:10549
OMIM 611150
CCDS CCDS14070 CCDS54540
HPRD 04624
IMGT
EMBL
GenPept
RNA Seq Atlas 25814