Q6RFH8 (DUX4C_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Double homeobox protein 4C
Short name=DUX4c

Alternative name(s):
Double homeobox protein 4-like protein 9

Gene names

Name:	DUX4L9
Synonyms:	DUX4C

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	374 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May be involved in transcriptional regulation By similarity. May play a role in cell proliferation specifically in the process of muscle regeneration. Ref.1
Subunit structure	May interact with MYF5; regulates MYF5 expression.
Subcellular location	Nucleus Ref.1.
Tissue specificity	Expressed in myocytes (at protein level). Ref.1
Developmental stage	Up-regulated during myoblasts differentiation (at protein level). Ref.1
Miscellaneous	Up-regulated in myoblasts of facioscapulohumeral muscular dystrophy (FSHD) patients (at protein level).
Sequence similarities	Contains 2 homeobox DNA-binding domains.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Domain	Homeobox Repeat
Ligand	DNA-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell proliferation Inferred from direct assay Ref.1. Source: UniProtKB regulation of gene expression Inferred from direct assay Ref.1. Source: UniProtKB transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Inferred from direct assay Ref.1. Source: UniProtKB
Molecular_function	sequence-specific DNA binding transcription factor activity Inferred from electronic annotation. Source: InterPro transcription regulatory region sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 374	374	Double homeobox protein 4C		PRO_0000405256
Regions
	DNA binding	19 – 78	60	Homeobox 1
	DNA binding	94 – 153	60	Homeobox 2
	Compositional bias	156 – 245	90	Ala-rich
	Compositional bias	191 – 338	148	Pro-rich

Sequences

	Sequence		Length	Mass (Da)
	Q6RFH8 [UniParc]. Last modified July 5, 2004. Version 1. Checksum: B7F4ED12BED46821	FASTA	374	39,442
	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

References

	« Hide 'large scale' referencesShow '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. , 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].

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY500824 Genomic DNA. Translation: AAS15569.1. AF146191 Genomic DNA. No translation available.
IPI	IPI00874112.
UniGene	Hs.742140.
3D structure databases
ProteinModelPortal	Q6RFH8.
SMR	Q6RFH8. Positions 20-77, 95-148.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000410437.
PTM databases
PhosphoSite	Q6RFH8.
Proteomic databases
PaxDb	Q6RFH8.
PRIDE	Q6RFH8.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Organism-specific databases
GeneCards	GC04M190943.
H-InvDB	HIX0020902.
HGNC	HGNC:33855. DUX4L9.
neXtProt	NX_Q6RFH8.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG323819.
HOVERGEN	HBG063255.
Family and domain databases
Gene3D	1.10.10.60. 2 hits.
InterPro	IPR001356. Homeodomain. IPR009057. Homeodomain-like. IPR000047. HTH_motif. [Graphical view]
Pfam	PF00046. Homeobox. 2 hits. [Graphical view]
PRINTS	PR00031. HTHREPRESSR.
SMART	SM00389. HOX. 2 hits. [Graphical view]
SUPFAM	SSF46689. Homeodomain_like. 2 hits.
PROSITE	PS00027. HOMEOBOX_1. False negative. PS50071. HOMEOBOX_2. 2 hits. [Graphical view]
ProtoNet	Search...

Entry information

Entry name

DUX4C_HUMAN

Accession

Primary (citable) accession number: Q6RFH8

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 8, 2011
Last sequence update:	July 5, 2004
Last modified:	May 1, 2013
This is version 62 of the entry and version 1 of the sequence. [Complete history]

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.