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Q6RFH8

- DUX4C_HUMAN

UniProt

Q6RFH8 - DUX4C_HUMAN

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Protein

Double homeobox protein 4C

Gene

DUX4L9

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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.By similarity3 Publications

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi19 – 7860Homeobox 1PROSITE-ProRule annotationAdd
BLAST
DNA bindingi94 – 15360Homeobox 2PROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. transcription regulatory region sequence-specific DNA binding Source: UniProtKB

GO - Biological processi

  1. cell proliferation Source: UniProtKB
  2. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  3. regulation of gene expression Source: UniProtKB
  4. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Double homeobox protein 4C
Alternative name(s):
Double homeobox protein 4, centromeric
Short name:
DUX4c
Double homeobox protein 4-like protein 9
Gene namesi
Name:DUX4L9
Synonyms:DUX4C
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Unplaced

Organism-specific databases

HGNCiHGNC:33855. DUX4L9.

Subcellular locationi

Nucleus 1 PublicationPROSITE-ProRule annotation

GO - Cellular componenti

  1. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 374374Double homeobox protein 4CPRO_0000405256Add
BLAST

Proteomic databases

PaxDbiQ6RFH8.
PRIDEiQ6RFH8.

PTM databases

PhosphoSiteiQ6RFH8.

Expressioni

Tissue specificityi

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

Developmental stagei

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

Interactioni

Subunit structurei

May interact with MYF5; regulates MYF5 expression.

Protein-protein interaction databases

STRINGi9606.ENSP00000410437.

Structurei

3D structure databases

ProteinModelPortaliQ6RFH8.
SMRiQ6RFH8. Positions 20-77, 95-148.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi156 – 24590Ala-richAdd
BLAST
Compositional biasi191 – 338148Pro-richAdd
BLAST

Sequence similaritiesi

Contains 2 homeobox DNA-binding domains.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox, Repeat

Phylogenomic databases

eggNOGiNOG323819.
HOVERGENiHBG063255.
InParanoidiQ6RFH8.
PhylomeDBiQ6RFH8.

Family and domain databases

Gene3Di1.10.10.60. 2 hits.
InterProiIPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR000047. HTH_motif.
[Graphical view]
PfamiPF00046. Homeobox. 2 hits.
[Graphical view]
PRINTSiPR00031. HTHREPRESSR.
SMARTiSM00389. HOX. 2 hits.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 2 hits.
PROSITEiPS50071. HOMEOBOX_2. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q6RFH8-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MALPTPSDST LPAEARGRGR RRRLVWTPSQ SEALRACFER NPYPGIATRE
60 70 80 90 100
RLAQAIGIPE PRVQIWFQNE RSRQLRQHRR ESRPWPGRRG PPEGRRKRTA
110 120 130 140 150
VTGSQTALLL RAFEKDRFPG IAAREELARE TGLPESRIQI WFQNRRARHP
160 170 180 190 200
GQGGRAPAQA GGLCSAAPGG GHPAPSWVAF AHTGAWGTGL PAPHVPCAPG
210 220 230 240 250
ALPQGAFVSQ AARAAPALQP SQAAPAEGIS QPAPARGDFA YAAPAPPDGA
260 270 280 290 300
LSHPQAPRWP PHPGKSREDR DPQRDGLPGP CAVAQPGPAQ AGPQGQGVLA
310 320 330 340 350
PPTSQGSPWW GWGRGPQVAG AAWEPQAGAA PPPQPAPPDA SAASTDASHP
360 370
GASQPLQEPG RSSTVTSSLL YELL
Length:374
Mass (Da):39,442
Last modified:July 5, 2004 - v1
Checksum:iB7F4ED12BED46821
GO

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY500824 Genomic DNA. Translation: AAS15569.1.
AF146191 Genomic DNA. No translation available.

Polymorphism databases

DMDMi74710112.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY500824 Genomic DNA. Translation: AAS15569.1 .
AF146191 Genomic DNA. No translation available.

3D structure databases

ProteinModelPortali Q6RFH8.
SMRi Q6RFH8. Positions 20-77, 95-148.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000410437.

PTM databases

PhosphoSitei Q6RFH8.

Polymorphism databases

DMDMi 74710112.

Proteomic databases

PaxDbi Q6RFH8.
PRIDEi Q6RFH8.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Organism-specific databases

GeneCardsi GC04M190943.
H-InvDB HIX0020902.
HGNCi HGNC:33855. DUX4L9.
MIMi 615581. gene.
neXtProti NX_Q6RFH8.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG323819.
HOVERGENi HBG063255.
InParanoidi Q6RFH8.
PhylomeDBi Q6RFH8.

Miscellaneous databases

PROi Q6RFH8.
SOURCEi Search...

Family and domain databases

Gene3Di 1.10.10.60. 2 hits.
InterProi IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR000047. HTH_motif.
[Graphical view ]
Pfami PF00046. Homeobox. 2 hits.
[Graphical view ]
PRINTSi PR00031. HTHREPRESSR.
SMARTi SM00389. HOX. 2 hits.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 2 hits.
PROSITEi PS50071. HOMEOBOX_2. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. 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].
  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. Cited for: FUNCTION.

Entry informationi

Entry nameiDUX4C_HUMAN
AccessioniPrimary (citable) accession number: Q6RFH8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 8, 2011
Last sequence update: July 5, 2004
Last modified: October 29, 2014
This is version 71 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3