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Double homeobox protein 4C (Double homeobox protein 4, centromeric) (DUX4c) (Double homeobox protein 4-like protein 9)

 DUX4C_HUMAN             Reviewed;         374 AA.
Q6RFH8;
08-MAR-2011, integrated into UniProtKB/Swiss-Prot.
05-JUL-2004, sequence version 1.
20-JUN-2018, entry version 87.
RecName: Full=Double homeobox protein 4C;
AltName: Full=Double homeobox protein 4, centromeric;
Short=DUX4c;
AltName: Full=Double homeobox protein 4-like protein 9;
Name=DUX4L9; Synonyms=DUX4C;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], FUNCTION, INTERACTION WITH MYF5,
SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
PubMed=19829708; DOI=10.1371/journal.pone.0007482;
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.;
"DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human
myoblast proliferation.";
PLoS ONE 4:E7482-E7482(2009).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15815621; DOI=10.1038/nature03466;
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.;
"Generation and annotation of the DNA sequences of human chromosomes 2
and 4.";
Nature 434:724-731(2005).
[3]
FUNCTION.
PubMed=18723017; DOI=10.1016/j.expneurol.2008.07.022;
Bosnakovski D., Lamb S., Simsek T., Xu Z., Belayew A., Perlingeiro R.,
Kyba M.;
"DUX4c, an FSHD candidate gene, interferes with myogenic regulators
and abolishes myoblast differentiation.";
Exp. Neurol. 214:87-96(2008).
[4]
FUNCTION.
PubMed=24145033; DOI=10.1074/jbc.M113.504522;
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.;
"Defective regulation of microRNA target genes in myoblasts from
facioscapulohumeral dystrophy patients.";
J. Biol. Chem. 288:34989-35002(2013).
-!- 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.
{ECO:0000250, ECO:0000269|PubMed:18723017,
ECO:0000269|PubMed:19829708, ECO:0000269|PubMed:24145033}.
-!- SUBUNIT: May interact with MYF5; regulates MYF5 expression.
-!- INTERACTION:
P17661:DES; NbExp=4; IntAct=EBI-11599882, EBI-1055572;
O94829:IPO13; NbExp=2; IntAct=EBI-11599882, EBI-747310;
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-
ProRule:PRU00108, ECO:0000269|PubMed:19829708}.
-!- TISSUE SPECIFICITY: Expressed in muscles, as well as in primary
myoblasts and myotubes (at protein level).
{ECO:0000269|PubMed:19829708}.
-!- DEVELOPMENTAL STAGE: Up-regulated during myoblasts differentiation
(at protein level). {ECO:0000269|PubMed:19829708}.
-!- DISEASE: Note=Up-regulated in myoblasts of facioscapulohumeral
muscular dystrophy (FSHD) patients (at protein level).
{ECO:0000269|PubMed:19829708}.
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EMBL; AY500824; AAS15569.1; -; Genomic_DNA.
EMBL; AF146191; -; NOT_ANNOTATED_CDS; Genomic_DNA.
ProteinModelPortal; Q6RFH8; -.
SMR; Q6RFH8; -.
IntAct; Q6RFH8; 50.
iPTMnet; Q6RFH8; -.
PhosphoSitePlus; Q6RFH8; -.
DMDM; 74710112; -.
PRIDE; Q6RFH8; -.
ProteomicsDB; 67318; -.
DisGeNET; 100288711; -.
GeneCards; DUX4L9; -.
H-InvDB; HIX0020902; -.
HGNC; HGNC:33855; DUX4L9.
HPA; HPA058451; -.
MIM; 615581; gene.
neXtProt; NX_Q6RFH8; -.
HOVERGEN; HBG063255; -.
InParanoid; Q6RFH8; -.
PhylomeDB; Q6RFH8; -.
PRO; PR:Q6RFH8; -.
Proteomes; UP000005640; Unplaced.
GO; GO:0005634; C:nucleus; IDA:UniProtKB.
GO; GO:0000976; F:transcription regulatory region sequence-specific DNA binding; IDA:UniProtKB.
GO; GO:0008283; P:cell proliferation; IDA:UniProtKB.
GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:UniProtKB.
GO; GO:0010468; P:regulation of gene expression; IDA:UniProtKB.
GO; GO:0006351; P:transcription, DNA-templated; IEA:UniProtKB-KW.
CDD; cd00086; homeodomain; 2.
InterPro; IPR009057; Homeobox-like_sf.
InterPro; IPR001356; Homeobox_dom.
InterPro; IPR000047; HTH_motif.
Pfam; PF00046; Homeobox; 2.
PRINTS; PR00031; HTHREPRESSR.
SMART; SM00389; HOX; 2.
SUPFAM; SSF46689; SSF46689; 2.
PROSITE; PS50071; HOMEOBOX_2; 2.
1: Evidence at protein level;
Complete proteome; DNA-binding; Homeobox; Nucleus; Reference proteome;
Repeat; Transcription; Transcription regulation.
CHAIN 1 374 Double homeobox protein 4C.
/FTId=PRO_0000405256.
DNA_BIND 19 78 Homeobox 1. {ECO:0000255|PROSITE-
ProRule:PRU00108}.
DNA_BIND 94 153 Homeobox 2. {ECO:0000255|PROSITE-
ProRule:PRU00108}.
COMPBIAS 156 245 Ala-rich.
COMPBIAS 191 338 Pro-rich.
SEQUENCE 374 AA; 39442 MW; B7F4ED12BED46821 CRC64;
MALPTPSDST LPAEARGRGR RRRLVWTPSQ SEALRACFER NPYPGIATRE RLAQAIGIPE
PRVQIWFQNE RSRQLRQHRR ESRPWPGRRG PPEGRRKRTA VTGSQTALLL RAFEKDRFPG
IAAREELARE TGLPESRIQI WFQNRRARHP GQGGRAPAQA GGLCSAAPGG GHPAPSWVAF
AHTGAWGTGL PAPHVPCAPG ALPQGAFVSQ AARAAPALQP SQAAPAEGIS QPAPARGDFA
YAAPAPPDGA LSHPQAPRWP PHPGKSREDR DPQRDGLPGP CAVAQPGPAQ AGPQGQGVLA
PPTSQGSPWW GWGRGPQVAG AAWEPQAGAA PPPQPAPPDA SAASTDASHP GASQPLQEPG
RSSTVTSSLL YELL


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