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Protein

Double homeobox protein 4C

Gene

DUX4L9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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)DescriptionActionsGraphical viewLength
DNA bindingi19 – 78Homeobox 1PROSITE-ProRule annotationAdd BLAST60
DNA bindingi94 – 153Homeobox 2PROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

  • transcription regulatory region sequence-specific DNA binding Source: UniProtKB

GO - Biological processi

  • cell proliferation Source: UniProtKB
  • positive regulation of transcription by RNA polymerase II Source: UniProtKB
  • regulation of gene expression Source: UniProtKB
  • transcription, DNA-templated Source: UniProtKB-KW

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation

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
Proteomesi
  • UP000005640 Componenti: Unplaced

Organism-specific databases

HGNCiHGNC:33855 DUX4L9
MIMi615581 gene
neXtProtiNX_Q6RFH8

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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

Organism-specific databases

DisGeNETi100288711

Polymorphism and mutation databases

DMDMi74710112

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00004052561 – 374Double homeobox protein 4CAdd BLAST374

Proteomic databases

PRIDEiQ6RFH8

PTM databases

iPTMnetiQ6RFH8
PhosphoSitePlusiQ6RFH8

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

Organism-specific databases

HPAiHPA058451

Interactioni

Subunit structurei

May interact with MYF5; regulates MYF5 expression.

Binary interactionsi

Show more details

Protein-protein interaction databases

IntActiQ6RFH8, 50 interactors

Structurei

3D structure databases

ProteinModelPortaliQ6RFH8
SMRiQ6RFH8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi156 – 245Ala-richAdd BLAST90
Compositional biasi191 – 338Pro-richAdd BLAST148

Keywords - Domaini

Homeobox, Repeat

Phylogenomic databases

HOVERGENiHBG063255
InParanoidiQ6RFH8
PhylomeDBiQ6RFH8

Family and domain databases

CDDicd00086 homeodomain, 2 hits
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR001356 Homeobox_dom
IPR000047 HTH_motif
PfamiView protein in Pfam
PF00046 Homeobox, 2 hits
PRINTSiPR00031 HTHREPRESSR
SMARTiView protein in SMART
SM00389 HOX, 2 hits
SUPFAMiSSF46689 SSF46689, 2 hits
PROSITEiView protein in PROSITE
PS50071 HOMEOBOX_2, 2 hits

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:
EMBLi
GenBanki
DDBJi
Links Updated
AY500824 Genomic DNA Translation: AAS15569.1
AF146191 Genomic DNA No translation available.

Similar proteinsi

Entry informationi

Entry nameiDUX4C_HUMAN
AccessioniPrimary (citable) accession number: Q6RFH8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 8, 2011
Last sequence update: July 5, 2004
Last modified: March 28, 2018
This is version 86 of the entry and version 1 of the sequence. See 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

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