DUX1

Summary

DUX1 (double homeobox 1, HGNC:3079) is a protein-coding gene on chromosome not on reference assembly, encoding Double homeobox protein 1 (O43812). Probable transcription activator.

The human genome contains hundreds of repeats of the 3.3-kb family in regions associated with heterochromatin. The DUX gene family, including DUX1, resides within these 3.3-kb repeated elements (Beckers et al., 2001 [PubMed 11245978]). See DUX4 (MIM 606009).

Source: NCBI Gene 26584 — RefSeq curated summary.

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3079
Approved symbol	DUX1
Name	double homeobox 1
Location	not on reference assembly
Locus type	gene with protein product
Status	Approved
OMIM	611441
Entrez	26584

Gene structure

Transcript identifiers

Ensembl transcripts: 0

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

None — 0 exons

Expression profiles

Top tissues by expression

0 total, by Bgee expression score (0-100, higher = more expressed):

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• Report shows that full-length DUX1 is actively transported into the nuclei of transfected C2C12 myoblasts, and that DUX1 homeodomains contain the signals required for this localization. (PMID:15709750)

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Double homeobox protein 1 — O43812 (reviewed: O43812)

All UniProt accessions (0):

UniProt curated annotations — full annotation on UniProt →

Function. Probable transcription activator. Binds the P5 DNA element sequence 5’-GATCTGAGTCTAATTGAGAATTACTGTAC-3'.

Subcellular location. Nucleus.

Tissue specificity. Expressed in rhabdomyosarcoma TE671 cells as well as in several other normal and cancer cells.

Domain organisation. Homeobox domain 2 confers nuclear targeting.

Miscellaneous. DUX genes are present in 3.3-kilobase elements, a tandem repeat family scattered in the genome found on the short arms of all acrocentric chromosomes as well as on several other chromosomes.

Similarity. Belongs to the paired homeobox family.

RefSeq proteins (0): (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000047	HTH_motif	Conserved_site
IPR001356	HD	Domain
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR017970	Homeobox_CS	Conserved_site
IPR051306	Homeobox_regulator	Family

Pfam: PF00046

UniProt features (4 total): DNA-binding region 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O43812-F1	78.57	0.46

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 0 (showing top):

GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), positive regulation of transcription by RNA polymerase II (GO:0045944)

GO Molecular Function (3): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228)

GO Cellular Component (1): nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transcription by RNA polymerase II	2
regulation of transcription by RNA polymerase II	2
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
regulation of DNA-templated transcription	1
positive regulation of DNA-templated transcription	1
transcription cis-regulatory region binding	1
chromatin	1
DNA-binding transcription factor activity	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription activator activity	1
positive regulation of transcription by RNA polymerase II	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

14 interactions, top by confidence:

A	B	Type	Score
DUX1	DES	psi-mi:“MI:0915”(physical association)	0.510
DES	DUX1	psi-mi:“MI:0915”(physical association)	0.510
DUX1	Des	psi-mi:“MI:0915”(physical association)	0.400
DUX1	ACTN2	psi-mi:“MI:0915”(physical association)	0.370
DUX1	ACTN3	psi-mi:“MI:0915”(physical association)	0.370
DUX1	CSNK2B	psi-mi:“MI:0915”(physical association)	0.370
DUX1	CENPE	psi-mi:“MI:0915”(physical association)	0.370
DUX1	HADHB	psi-mi:“MI:0915”(physical association)	0.370
DUX3	DUX1	psi-mi:“MI:0914”(association)	0.350

BioGRID (7): ACTN2 (Two-hybrid), ACTN3 (Two-hybrid), CSNK2B (Two-hybrid), CENPE (Two-hybrid), DES (Two-hybrid), DUX1 (Reconstituted Complex), DUX1 (Affinity Capture-MS)

ESM2 similar proteins: A6NLW8, O43316, O43812, O73916, O88436, O93307, O95475, P09075, P09076, P09078, P09634, P09635, P09637, P10178, P13544, P14150, P14157, P14158, P14838, P14839, P15142, P15856, P15860, P18863, P18865, P18866, P18867, P20270, P21523, P23681, P31261, P32115, P50208, P50209, P81192, P97273, Q05095, Q26430, Q28598, Q28600

Diamond homologs: A0A1W2PPF3, A1YEY5, A1YFI3, A1YG57, A2T733, A2T7P4, A6NLW8, A6NNA5, F1NEA7, G5EBU4, G5EDS1, O18381, O35137, O35160, O42250, O43186, O43316, O43812, O54751, O70137, O73917, O75360, O75364, O95076, P09088, P0CJ85, P0CJ86, P0CJ87, P0CJ88, P0CJ89, P0CJ90, P21711, P22810, P26367, P26630, P29454, P32242, P32243, P34764, P34765

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

0 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

Disease associations

OMIM: gene MIM:611441 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs2031920	Other	3	sevoflurane

PharmGKB variants

3 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2031920	CYP2E1, DUX1	3	1.50	4	Drugs For Treatment Of Tuberculosis;ethanol;sevoflurane
rs2070673	CYP2E1, DUX1	3	2.75	1	cytarabine;fludarabine;gemtuzumab ozogamicin;idarubicin
rs6413432	CYP2E1, DUX1	3	1.75	1	cisplatin;cyclophosphamide

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.