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

Gene ID: 22947, updated on 8-Nov-2023

Summary

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Official Symbol
DUX4L1provided by HGNC
Official Full Name
double homeobox 4 like 1 (pseudogene)provided by HGNC
Primary source
HGNC:HGNC:3082
See related
Ensembl:ENSG00000280757 AllianceGenome: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]
Annotation information
Note: GeneID: 22947 was previously named DUX4/double homeobox 4. GeneID: 100288687 is currently assigned the official DUX4/double homeobox 4 gene name. [19 Jun 2018]
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Genomic context

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Location:
4q35.2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (190084412..190085696)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (193452541..193453825)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (191005567..191006851)

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

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Nanopore direct RNA sequencing detects DUX4-activated repeats and isoforms in human muscle cells. Mitsuhashi S, et al. Hum Mol Genet, 2021 May 12. PMID 33693705, Free PMC Article
  2. Myogenic enhancers regulate expression of the facioscapulohumeral muscular dystrophy-associated DUX4 gene. Himeda CL, et al. Mol Cell Biol, 2014 Jun. PMID 24636994, Free PMC Article
  3. DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis. Young JM, et al. PLoS Genet, 2013 Nov. PMID 24278031, Free PMC Article
  4. Multiple protein domains contribute to nuclear import and cell toxicity of DUX4, a candidate pathogenic protein for facioscapulohumeral muscular dystrophy. Corona ED, et al. PLoS One, 2013. PMID 24116060, Free PMC Article
  5. Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy. Ricci G, et al. Brain, 2013 Nov. PMID 24030947, Free PMC Article

See all (51) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Nanopore direct RNA sequencing detects DUX4-activated repeats and isoforms in human muscle cells.
    Title: Nanopore direct RNA sequencing detects DUX4-activated repeats and isoforms in human muscle cells.
  2. these data support a model in which DME1 and DME2 myogenic enhancers associate with the DUX4 promoter in skeletal myocytes and activate transcription when epigenetically derepressed in FSHD, resulting in the pathological misexpression of DUX4-fl.
    Title: Myogenic enhancers regulate expression of the facioscapulohumeral muscular dystrophy-associated DUX4 gene.
  3. proposed that Wnt/beta-catenin signaling is important for transcriptional repression of DUX4
    Title: Wnt/β-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells.
  4. Impact of Dux4 on p53/p21 signal pathway, which controls the checkpoint in cell cycle progression. Overexpression of Dux4 increased p21 mRNA and protein level, while expression of p53, phospho-p53 remained unchanged.
    Title: Dux4 induces cell cycle arrest at G1 phase through upregulation of p21 expression.
  5. DUX4 possesses redundant mechanisms to assure nuclear entrance and that its various transcription-factor associated domains play an essential role in cell toxicity.
    Title: Multiple protein domains contribute to nuclear import and cell toxicity of DUX4, a candidate pathogenic protein for facioscapulohumeral muscular dystrophy.
  6. Our findings demonstrate a role for DUX4 and repetitive elements in mammalian germline evolution and in FSHD muscular dystrophy.
    Title: DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis.
  7. DUX4-expressing embryonic stem cells downregulate pluripotency markers and rapidly differentiate
    Title: Expression of the human FSHD-linked DUX4 gene induces neurogenesis during differentiation of murine embryonic stem cells.
  8. results suggest that DUX4 regulates overlapped and distinct groups of genes and pathways in human and mouse cells as evident by the selective up-regulation of genes involved in myogenesis and gametogenesis in human RD and immortalized cells
    Title: DUX4 differentially regulates transcriptomes of human rhabdomyosarcoma and mouse C2C12 cells.
  9. Patients affected by facioscapulohumeral muscular dystrophy and their relatives who are carrying D4Z4 reduced alleles have various motor impairment phenotypes.
    Title: Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy.
  10. CIC-DUX4 sarcoma represents a novel translocation-associated sarcoma with distinctive histopathologic features and rapid disease progression.
    Title: Undifferentiated small round cell sarcoma with t(4;19)(q35;q13.1) CIC-DUX4 fusion: a novel highly aggressive soft tissue tumor with distinctive histopathology.
Submit: New GeneRIF Correction See all GeneRIFs (32)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Other Names

  • double homeobox protein 10
  • double homeobox protein 4/10

NCBI Reference Sequences (RefSeq)

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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: 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_000004.12 Reference GRCh38.p14 Primary Assembly

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

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_015495300.1 Reference GRCh38.p14 PATCHES

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

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_015495301.1 Reference GRCh38.p14 PATCHES

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    193452541..193453825
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    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.
Nucleotide Protein
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