U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC107181287 origin of replication for ATXN10 repeat region [ Homo sapiens (human) ]

Gene ID: 107181287, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Gene symbol
LOC107181287
Gene description
origin of replication for ATXN10 repeat region
Gene type
biological region
Feature type(s)
regulatory: replication_regulatory_region
rep_origin
repeat_region
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This region contains a (ATTCT)n sequence repeat that, when present in a high copy number allele, results in spinocerebellar ataxia type 10. High copy number alleles of this repeat, but not non-pathogenic low copy number alleles, promote initiation of DNA replication in the native genomic context. High copy number alleles can also reconstitute the function of a DUE (DNA unwinding element) when present ectopically in the context of the MYC replication origin region. Association of this region with Dtd1 (D-tyrosyl-tRNA deacylase 1) protein, also known as DUE-B, may promote pre-initiation complex assembly and initiation of replication. [provided by RefSeq, Feb 2016]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
chromosome: 22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (45794654..45795563)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (46279359..46280273)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (46190534..46191443)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ataxin 10 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:46158531-46159124 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr22:46164292-46164865 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13887 Neighboring gene microRNA 4762 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13888 Neighboring gene ataxin 10 repeat instability region Neighboring gene TRNT1 pseudogene 2 Neighboring gene VISTA enhancer hs1559 Neighboring gene uncharacterized LOC105373071 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:46263223-46263797 Neighboring gene uncharacterized LOC107985535 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:46275792-46276707 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:46276708-46277622 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:46291489-46292372 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:46292373-46293254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:46331075-46331575 Neighboring gene Wnt family member 7B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:46358809-46359309 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:46362863-46363759 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:46364456-46365655

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. 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. Liu G, et al. Mol Cell Biol, 2007 Nov. PMID 17846122, Free PMC Article
  2. The DNA unwinding element binding protein DUE-B interacts with Cdc45 in preinitiation complex formation. Chowdhury A, et al. Mol Cell Biol, 2010 Mar. PMID 20065034, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See Variation Viewer (GRCh37.p13)

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_046713.1 

    Range
    101..1010
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    45794654..45795563
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    46279359..46280273
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Molecular Biology Databases