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

Summary

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

Location:: 4q35.2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (190084412..190085696)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (193452541..193453825)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (191005567..191006851)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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.

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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)

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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

NG_034172.2

Range

101..1385

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RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

190084412..190085696

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Reference GRCh38.p14 PATCHES

Genomic

NW_015495300.1 Reference GRCh38.p14 PATCHES

Range

177080..178364

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Reference GRCh38.p14 PATCHES

Genomic

NW_015495301.1 Reference GRCh38.p14 PATCHES

Range

177080..178364

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Alternate T2T-CHM13v2.0

Genomic

NC_060928.1 Alternate T2T-CHM13v2.0

Range

193452541..193453825

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Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.
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.