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Q6RFH8 (DUX4C_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 68. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Double homeobox protein 4C
Alternative name(s):
Double homeobox protein 4, centromeric
Short name=DUX4c
Double homeobox protein 4-like protein 9
Gene names
Name:DUX4L9
Synonyms:DUX4C
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length374 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May be involved in transcriptional regulation By similarity. Down-regulates MYOD1 expression and may up-regulate MYF5 expression. May regulate microRNA (miRNA) transcription, upregulating the expression of some myogenic miRNAs, including MIR1-1, MIR133A2, MIR133B and MIR206. Impairs the differentiation of myoblasts and may be involved in muscle regeneration. Ref.1 Ref.3 Ref.4

Subunit structure

May interact with MYF5; regulates MYF5 expression.

Subcellular location

Nucleus Ref.1.

Tissue specificity

Expressed in muscles, as well as in primary myoblasts and myotubes (at protein level). Ref.1

Developmental stage

Up-regulated during myoblasts differentiation (at protein level). Ref.1

Involvement in disease

Up-regulated in myoblasts of facioscapulohumeral muscular dystrophy (FSHD) patients (at protein level) (Ref.1).

Sequence similarities

Contains 2 homeobox DNA-binding domains.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 374374Double homeobox protein 4C
PRO_0000405256

Regions

DNA binding19 – 7860Homeobox 1
DNA binding94 – 15360Homeobox 2
Compositional bias156 – 24590Ala-rich
Compositional bias191 – 338148Pro-rich

Sequences

Sequence LengthMass (Da)Tools
Q6RFH8 [UniParc].

Last modified July 5, 2004. Version 1.
Checksum: B7F4ED12BED46821

FASTA37439,442
        10         20         30         40         50         60 
MALPTPSDST LPAEARGRGR RRRLVWTPSQ SEALRACFER NPYPGIATRE RLAQAIGIPE 

        70         80         90        100        110        120 
PRVQIWFQNE RSRQLRQHRR ESRPWPGRRG PPEGRRKRTA VTGSQTALLL RAFEKDRFPG 

       130        140        150        160        170        180 
IAAREELARE TGLPESRIQI WFQNRRARHP GQGGRAPAQA GGLCSAAPGG GHPAPSWVAF 

       190        200        210        220        230        240 
AHTGAWGTGL PAPHVPCAPG ALPQGAFVSQ AARAAPALQP SQAAPAEGIS QPAPARGDFA 

       250        260        270        280        290        300 
YAAPAPPDGA LSHPQAPRWP PHPGKSREDR DPQRDGLPGP CAVAQPGPAQ AGPQGQGVLA 

       310        320        330        340        350        360 
PPTSQGSPWW GWGRGPQVAG AAWEPQAGAA PPPQPAPPDA SAASTDASHP GASQPLQEPG 

       370 
RSSTVTSSLL YELL 

« Hide

References

« Hide 'large scale' references
[1]"DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation."
Ansseau E., Laoudj-Chenivesse D., Marcowycz A., Tassin A., Vanderplanck C., Sauvage S., Barro M., Mahieu I., Leroy A., Leclercq I., Mainfroid V., Figlewicz D., Mouly V., Butler-Browne G., Belayew A., Coppee F.
PLoS ONE 4:E7482-E7482(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], FUNCTION, INTERACTION WITH MYF5, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
[2]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"DUX4c, an FSHD candidate gene, interferes with myogenic regulators and abolishes myoblast differentiation."
Bosnakovski D., Lamb S., Simsek T., Xu Z., Belayew A., Perlingeiro R., Kyba M.
Exp. Neurol. 214:87-96(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[4]"Defective regulation of microRNA target genes in myoblasts from facioscapulohumeral dystrophy patients."
Dmitriev P., Stankevicins L., Ansseau E., Petrov A., Barat A., Dessen P., Robert T., Turki A., Lazar V., Labourer E., Belayew A., Carnac G., Laoudj-Chenivesse D., Lipinski M., Vassetzky Y.S.
J. Biol. Chem. 288:34989-35002(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY500824 Genomic DNA. Translation: AAS15569.1.
AF146191 Genomic DNA. No translation available.

3D structure databases

ProteinModelPortalQ6RFH8.
SMRQ6RFH8. Positions 20-77, 95-148.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000410437.

PTM databases

PhosphoSiteQ6RFH8.

Polymorphism databases

DMDM74710112.

Proteomic databases

PaxDbQ6RFH8.
PRIDEQ6RFH8.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Organism-specific databases

GeneCardsGC04M190943.
H-InvDBHIX0020902.
HGNCHGNC:33855. DUX4L9.
MIM615581. gene.
neXtProtNX_Q6RFH8.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG323819.
HOVERGENHBG063255.
PhylomeDBQ6RFH8.

Family and domain databases

Gene3D1.10.10.60. 2 hits.
InterProIPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR000047. HTH_motif.
[Graphical view]
PfamPF00046. Homeobox. 2 hits.
[Graphical view]
PRINTSPR00031. HTHREPRESSR.
SMARTSM00389. HOX. 2 hits.
[Graphical view]
SUPFAMSSF46689. SSF46689. 2 hits.
PROSITEPS50071. HOMEOBOX_2. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

PROQ6RFH8.
SOURCESearch...

Entry information

Entry nameDUX4C_HUMAN
AccessionPrimary (citable) accession number: Q6RFH8
Entry history
Integrated into UniProtKB/Swiss-Prot: March 8, 2011
Last sequence update: July 5, 2004
Last modified: April 16, 2014
This is version 68 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM