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DUX4L1 double homeobox 4 like 1 [ Homo sapiens (human) ]

Gene ID: 22947, updated on 8-Apr-2017
Official Symbol
DUX4L1provided by HGNC
Official Full Name
double homeobox 4 like 1provided by HGNC
Primary source
HGNC:HGNC:3082
Gene type
pseudo
RefSeq status
INFERRED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DUX4; DUX10
Summary
This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014]
Location:
4q35.2
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (190084412..190085696)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (191005470..191006849)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene double homeobox 4 like 5 Neighboring gene double homeobox 4 like 4 Neighboring gene double homeobox 4 like 3 Neighboring gene double homeobox 4 like 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

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_034172.2 

    Range
    101..1385
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

    Range
    190084412..190085696
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p7 PATCHES

Genomic

  1. NW_015495300.1 Reference GRCh38.p7 PATCHES

    Range
    177080..178364
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p7 PATCHES

Genomic

  1. NW_015495301.1 Reference GRCh38.p7 PATCHES

    Range
    177080..178364
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NG_027707.1: Suppressed sequence

    Description
    NG_027707.1: This RefSeq was permanently suppressed because GeneID 100288687 is now considered to be the functional DUX4 gene. The RefSeqGene for DUX4 is now NG_034189.1.
  2. NM_033178.4: Suppressed sequence

    Description
    NM_033178.4: This RefSeq was permanently suppressed because it is now thought that this gene does not encode a protein.
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