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ATXN10 ataxin 10 [ Homo sapiens (human) ]

Gene ID: 25814, updated on 9-Dec-2018

Summary

Official Symbol
ATXN10provided by HGNC
Official Full Name
ataxin 10provided by HGNC
Primary source
HGNC:HGNC:10549
See related
Ensembl:ENSG00000130638 MIM:611150
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
E46L; SCA10; HUMEEP
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 an ATTCT repeat from 9-32 copies to 800-4500 copies 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, Jul 2016]
Expression
Ubiquitous expression in brain (RPKM 40.8), thyroid (RPKM 30.3) and 25 other tissues See more
Orthologs

Genomic context

See ATXN10 in Genome Data Viewer
Location:
22q13.31
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (45671798..45845307)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (46067678..46241187)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373069 Neighboring gene uncharacterized LOC105373067 Neighboring gene uncharacterized LOC105373068 Neighboring gene microRNA 4762 Neighboring gene tRNA nucleotidyl transferase 1 pseudogene Neighboring gene origin of replication for ATXN10 repeat region Neighboring gene ataxin 10 repeat instability region Neighboring gene VISTA enhancer hs1559 Neighboring gene uncharacterized LOC107985535 Neighboring gene uncharacterized LOC105373071

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vpu vpu HIV-1 Vpu is identified to have a physical interaction with ataxin 10 (ATXN10) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ37990

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enzyme binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cilium assembly IEA
Inferred from Electronic Annotation
more info
 
nervous system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuron projection development IDA
Inferred from Direct Assay
more info
PubMed 
protein homotrimerization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
dendrite IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space HDA PubMed 
membrane HDA PubMed 
neuronal cell body IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
ataxin-10
Names
brain protein E46 homolog
spinocerebellar ataxia type 10 protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016212.1 RefSeqGene

    Range
    5001..178510
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001167621.1NP_001161093.1  ataxin-10 isoform 2

    See identical proteins and their annotated locations for NP_001161093.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AK095309, AK294348, BC007508, DB035174, DB548216, R43701
    Consensus CDS
    CCDS54540.1
    UniProtKB/Swiss-Prot
    Q9UBB4
    Related
    ENSP00000370449.4, ENST00000381061.8
    Conserved Domains (1) summary
    pfam09759
    Location:306403
    Atx10homo_assoc; Spinocerebellar ataxia type 10 protein domain
  2. NM_013236.4NP_037368.1  ataxin-10 isoform 1

    See identical proteins and their annotated locations for NP_037368.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK095309, BC007508, DB035174, DB548216, R43701
    Consensus CDS
    CCDS14070.1
    UniProtKB/Swiss-Prot
    Q9UBB4
    Related
    ENSP00000252934.4, ENST00000252934.9
    Conserved Domains (1) summary
    pfam09759
    Location:370467
    Atx10homo_assoc; Spinocerebellar ataxia type 10 protein domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

    Range
    45671798..45845307
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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