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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.
13-FEB-2019, entry version 91.
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; -.
BioMuta; HGNC:33855; -.
DMDM; 74710112; -.
jPOST; Q6RFH8; -.
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 population 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.
CDD; cd00086; homeodomain; 2.
InterPro; IPR009057; Homeobox-like_sf.
InterPro; IPR001356; Homeobox_dom.
InterPro; IPR000047; HTH_motif.
Pfam; PF00046; Homeodomain; 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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Pathways :
WP1049: G Protein Signaling Pathways
WP1165: G Protein Signaling Pathways
WP1371: G Protein Signaling Pathways
WP1438: Influenza A virus infection
WP1493: Carbon assimilation C4 pathway
WP1502: Mitochondrial biogenesis
WP1531: Vitamin D synthesis
WP1566: Citrate cycle (TCA cycle)
WP1613: 1,4-Dichlorobenzene degradation
WP1616: ABC transporters
WP1624: Bacterial secretion system
WP1625: Base excision repair
WP1644: DNA replication
WP1650: Fluorobenzoate degradation
WP1654: gamma-Hexachlorocyclohexane degradation
WP1657: Glycerolipid metabolism
WP1659: Glycine, serine and threonine metabolism
WP1661: Glyoxylate and dicarboxylate metabolism
WP1663: Homologous recombination
WP1665: Limonene and pinene degradation
WP1672: Mismatch repair
WP1673: Naphthalene and anthracene degradation
WP1675: Nitrogen metabolism
WP1676: Non-homologous end-joining
WP1678: Nucleotide excision repair

Related Genes :
[HOXD9 HOX4C] Homeobox protein Hox-D9 (Homeobox protein Hox-4C) (Homeobox protein Hox-5.2)
[DUX4 DUX10] Double homeobox protein 4 (Double homeobox protein 10)
[CHMP4C SHAX3] Charged multivesicular body protein 4c (Chromatin-modifying protein 4c) (CHMP4c) (SNF7 homolog associated with Alix 3) (SNF7-3) (hSnf7-3) (Vacuolar protein sorting-associated protein 32-3) (Vps32-3) (hVps32-3)
[PPP4C PPP4 PPX] Serine/threonine-protein phosphatase 4 catalytic subunit (PP4C) (Pp4) (EC 3.1.3.16) (Protein phosphatase X) (PP-X)
[Ppp4c Ppp4 Ppx] Serine/threonine-protein phosphatase 4 catalytic subunit (PP4C) (Pp4) (EC 3.1.3.16) (Protein phosphatase X) (PP-X)
[HIST1H4A H4/A H4FA; HIST1H4B H4/I H4FI; HIST1H4C H4/G H4FG; HIST1H4D H4/B H4FB; HIST1H4E H4/J H4FJ; HIST1H4F H4/C H4FC; HIST1H4H H4/H H4FH; HIST1H4I H4/M H4FM; HIST1H4J H4/E H4FE; HIST1H4K H4/D H4FD; HIST1H4L H4/K H4FK; HIST2H4A H4/N H4F2 H4FN HIST2H4; HIST2H4B H4/O H4FO; HIST4H4] Histone H4
[env] Envelope glycoprotein gp160 (Env polyprotein) [Cleaved into: Surface protein gp120 (SU) (Glycoprotein 120) (gp120); Transmembrane protein gp41 (TM) (Glycoprotein 41) (gp41)]
[ST3GAL4 CGS23 NANTA3 SIAT4C STZ] CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4 (Alpha 2,3-ST 4) (Beta-galactoside alpha-2,3-sialyltransferase 4) (EC 2.4.99.2) (EC 2.4.99.4) (Alpha 2,3-sialyltransferase IV) (Gal-NAc6S) (Gal-beta-1,4-GalNAc-alpha-2,3-sialyltransferase) (SAT-3) (ST-4) (ST3Gal IV) (ST3GalIV) (ST3GalA.2) (STZ) (Sialyltransferase 4C) (SIAT4-C)
[env] Envelope glycoprotein gp160 (Env polyprotein) [Cleaved into: Surface protein gp120 (SU) (Glycoprotein 120) (gp120); Transmembrane protein gp41 (TM) (Glycoprotein 41) (gp41)]
[env] Envelope glycoprotein gp160 (Env polyprotein) [Cleaved into: Surface protein gp120 (SU) (Glycoprotein 120) (gp120); Transmembrane protein gp41 (TM) (Glycoprotein 41) (gp41)]
[ARL4C ARL7] ADP-ribosylation factor-like protein 4C (ADP-ribosylation factor-like protein 7) (ADP-ribosylation factor-like protein LAK)
[LRRC4C KIAA1580 NGL1 UNQ292/PRO331] Leucine-rich repeat-containing protein 4C (Netrin-G1 ligand) (NGL-1)
[St3gal4 Siat4c] CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4 (Alpha 2,3-ST 4) (Beta-galactoside alpha-2,3-sialyltransferase 4) (EC 2.4.99.2) (EC 2.4.99.6) (Alpha 2,3-sialyltransferase IV) (Gal-beta-1,4-GalNAc-alpha-2,3-sialyltransferase) (ST3Gal IV) (ST3GalIV) (Sialyltransferase 4C) (SIAT4-C)
[env] Envelope glycoprotein gp160 (Env polyprotein) [Cleaved into: Surface protein gp120 (SU) (Glycoprotein 120) (gp120); Transmembrane protein gp41 (TM) (Glycoprotein 41) (gp41)]
[env] Envelope glycoprotein gp160 (Env polyprotein) [Cleaved into: Surface protein gp120 (SU) (Glycoprotein 120) (gp120); Transmembrane protein gp41 (TM) (Glycoprotein 41) (gp41)]
[PDE4C DPDE1] cAMP-specific 3',5'-cyclic phosphodiesterase 4C (EC 3.1.4.53) (DPDE1) (PDE21)
[env] Envelope glycoprotein gp160 (Env polyprotein) [Cleaved into: Surface protein gp120 (SU) (Glycoprotein 120) (gp120); Transmembrane protein gp41 (TM) (Glycoprotein 41) (gp41)]
[env] Envelope glycoprotein gp160 (Env polyprotein) [Cleaved into: Surface protein gp120 (SU) (Glycoprotein 120) (gp120); Transmembrane protein gp41 (TM) (Glycoprotein 41) (gp41)]
[env] Envelope glycoprotein gp160 (Env polyprotein) [Cleaved into: Surface protein gp120 (SU) (Glycoprotein 120) (gp120); Transmembrane protein gp41 (TM) (Glycoprotein 41) (gp41)]
[SLCO4C1 OATP4C1 OATPX SLC21A20] Solute carrier organic anion transporter family member 4C1 (OATP-H) (Organic anion transporter M1) (OATP-M1) (Solute carrier family 21 member 20)
[env] Envelope glycoprotein gp160 (Env polyprotein) [Cleaved into: Surface protein gp120 (SU) (Glycoprotein 120) (gp120); Transmembrane protein gp41 (TM) (Glycoprotein 41) (gp41)]
[env] Envelope glycoprotein gp160 (Env polyprotein) [Cleaved into: Surface protein gp120 (SU) (Glycoprotein 120) (gp120); Transmembrane protein gp41 (TM) (Glycoprotein 41) (gp41)]
[env] Envelope glycoprotein gp160 (Env polyprotein) [Cleaved into: Surface protein gp120 (SU) (Glycoprotein 120) (gp120); Transmembrane protein gp41 (TM) (Glycoprotein 41) (gp41)]
[env] Envelope glycoprotein gp160 (Env polyprotein) [Cleaved into: Surface protein gp120 (SU) (Glycoprotein 120) (gp120); Transmembrane protein gp41 (TM) (Glycoprotein 41) (gp41)]
[Hist1h4a; Hist1h4b H4-53; Hist1h4c H4-12; Hist1h4d; Hist1h4f; Hist1h4h; Hist1h4i; Hist1h4j; Hist1h4k; Hist1h4m; Hist2h4a Hist2h4; Hist4h4] Histone H4
[tat] Protein Tat (Transactivating regulatory protein)
[env] Envelope glycoprotein gp160 (Env polyprotein) [Cleaved into: Surface protein gp120 (SU) (Glycoprotein 120) (gp120); Transmembrane protein gp41 (TM) (Glycoprotein 41) (gp41)]
[env] Envelope glycoprotein gp160 (Env polyprotein) [Cleaved into: Surface protein gp120 (SU) (Glycoprotein 120) (gp120); Transmembrane protein gp41 (TM) (Glycoprotein 41) (gp41)]
[nef] Protein Nef (3'ORF) (Negative factor) (F-protein) [Cleaved into: C-terminal core protein]
[env] Envelope glycoprotein gp160 (Env polyprotein) [Cleaved into: Surface protein gp120 (SU) (Glycoprotein 120) (gp120); Transmembrane protein gp41 (TM) (Glycoprotein 41) (gp41)]

Bibliography :