Q9UBX2 (DUX4_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified February 19, 2014. Version 96. History...
Names and origin
|Protein names||Recommended name:|
Double homeobox protein 4
Double homeobox protein 10
Double homeobox protein 4/10
|Organism||Homo sapiens (Human) [Reference proteome]|
|Taxonomic identifier||9606 [NCBI]|
|Taxonomic lineage||Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo|
|Sequence length||424 AA.|
|Protein existence||Evidence at transcript level|
General annotation (Comments)
Involved in transcriptional regulation. Ref.1
May exist as a monomer or a dimer.
Does not seem to be expressed in normal muscle, but in muscle of individuals with FSHD, where it may be toxic to cells. Ref.1
Both homeobox domains confer nuclear targeting.
|Involvement in disease|
Facioscapulohumeral muscular dystrophy 1 (FSHD1) [MIM:158900]: A degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles.
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.
Belongs to the paired homeobox family.
Contains 2 homeobox DNA-binding domains.
|Technical term||Complete proteome|
|Gene Ontology (GO)|
Inferred from electronic annotation. Source: UniProtKB-KW
Inferred from electronic annotation. Source: UniProtKB-SubCell
|Molecular_function||sequence-specific DNA binding transcription factor activity|
Inferred from electronic annotation. Source: InterProtranscription regulatory region sequence-specific DNA binding
Inferred from electronic annotation. Source: InterPro
|Complete GO annotation...|
Sequence annotation (Features)
|||"Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element."|
Gabrieels J., Beckers M.-C., Ding H., De Vriese A., Plaisance S., van der Maarel S.M., Padberg G.W., Frants R.R., Hewitt J.E., Collen D., Belayew A.
Gene 236:25-32(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], FUNCTION, TISSUE SPECIFICITY, INVOLVEMENT IN FSHD1.
|||"A subtelomeric exchange between chromosomes 4q35 and 10q26 observed in a patient with FSHD maintains a double homeobox (DUX) gene within the 3.3 kb repeats of the D4Z4 locus."|
Leclercq I., Matteotti C., Deneubourg G., Leo O., Van der Maarel S.M., Frants R.R., Padberg G.W., Coppee F., Belayew A.
Submitted (JUN-2001) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
|||"Intracellular trafficking and dynamics of double homeodomain proteins."|
Oestlund C., Garcia-Carrasquillo R.M., Belayew A., Worman H.J.
Biochemistry 44:2378-2384(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION.
|||"Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample."|
Mostacciuolo M.L., Pastorello E., Vazza G., Miorin M., Angelini C., Tomelleri G., Galluzzi G., Trevisan C.P.
Clin. Genet. 75:550-555(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN FSHD1.
|+||Additional computationally mapped references.|
|Accession||Primary (citable) accession number: Q9UBX2|
|Entry status||Reviewed (UniProtKB/Swiss-Prot)|
|Annotation program||Chordata Protein Annotation Program|
|Disclaimer||Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.|