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Q96PT3 (DUX5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified May 14, 2014. Version 71. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Double homeobox protein 5
Gene names
Name:DUX5
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length197 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Subcellular location

Nucleus Probable.

Tissue specificity

Expressed in hepatoma Hep3B cells. Ref.1

Developmental stage

Expressed in fetal tissue. Ref.1

Miscellaneous

DUX genes are present in 3.3-kilobase elements, a tandem repeat family scattered in the genome found on the short arms of all acrocentric chromosomes as well as on several other chromosomes. May be functional despite lack of introns and a poly(A) addition signal.

Sequence similarities

Belongs to the paired homeobox family.

Contains 2 homeobox DNA-binding domains.

Ontologies

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96PT3-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q96PT3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-27: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 197197Double homeobox protein 5
PRO_0000252414

Regions

DNA binding46 – 10560Homeobox 1
DNA binding121 – 18060Homeobox 2

Natural variations

Alternative sequence1 – 2727Missing in isoform 2.
VSP_020959
Natural variant601A → V.
Corresponds to variant rs10865697 [ dbSNP | Ensembl ].
VAR_059347
Natural variant1181P → L.
Corresponds to variant rs9755233 [ dbSNP | Ensembl ].
VAR_059348
Natural variant1191Q → P.
Corresponds to variant rs12374009 [ dbSNP | Ensembl ].
VAR_059349
Natural variant1801S → A.
Corresponds to variant rs12632317 [ dbSNP | Ensembl ].
VAR_059350
Natural variant1801S → T.
Corresponds to variant rs12632317 [ dbSNP | Ensembl ].
VAR_059351

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: 9F20E036413853F4

FASTA19722,164
        10         20         30         40         50         60 
MPAEVHGSPP ASLCPCQSVK FRPGLPEMAL LTALDDTLPE EAQGPGRRMI LLSTPSQSDA 

        70         80         90        100        110        120 
LRACFERNLY PGIATKEELA QGIDIPEPRV QIWFQNERSC QLRQHRRQSR PWPGRRDPQK 

       130        140        150        160        170        180 
GRRKRTAITG SQTALLLRAF EKDRFPGIAA REELARETGL PESRIQIWFQ NRRARHRGQS 

       190 
GRAPTQASIR CNAAPIG 

« Hide

Isoform 2 [UniParc].

Checksum: 7E3B34169B081F08
Show »

FASTA17019,347

References

[1]"Active genes in junk DNA? Characterization of DUX genes embedded within 3.3 kb repeated elements."
Beckers M.-C., Gabrieels J., van der Maarel S., De Vriese A., Frants R.R., Collen D., Belayew A.
Gene 264:51-57(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF133131 Genomic DNA. Translation: AAD33598.1.
AF133131 Genomic DNA. Translation: AAL02243.1.
RefSeqNP_036278.1. NM_012146.1. [Q96PT3-2]
NP_036281.2. NM_012149.2. [Q96PT3-1]
UniGeneHs.274469.

3D structure databases

ProteinModelPortalQ96PT3.
SMRQ96PT3. Positions 47-99, 120-177.
ModBaseSearch...
MobiDBSearch...

Polymorphism databases

DMDM74717113.

Proteomic databases

PRIDEQ96PT3.

Protocols and materials databases

DNASU26581.
26584.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

GeneID26581.
26584.
KEGGhsa:26581.
hsa:26584.

Organism-specific databases

CTD26581.
26584.
HGNCHGNC:3083. DUX5.
MIM611444. gene.
neXtProtNX_Q96PT3.
PharmGKBPA27535.
PA27539.
GenAtlasSearch...

Phylogenomic databases

HOVERGENHBG081466.
PhylomeDBQ96PT3.

Gene expression databases

GenevestigatorQ96PT3.

Family and domain databases

Gene3D1.10.10.60. 2 hits.
InterProIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR000047. HTH_motif.
[Graphical view]
PfamPF00046. Homeobox. 2 hits.
[Graphical view]
PRINTSPR00031. HTHREPRESSR.
SMARTSM00389. HOX. 2 hits.
[Graphical view]
SUPFAMSSF46689. SSF46689. 2 hits.
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

NextBio48938.
PROQ96PT3.
SOURCESearch...

Entry information

Entry nameDUX5_HUMAN
AccessionPrimary (citable) accession number: Q96PT3
Entry history
Integrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: December 1, 2001
Last modified: May 14, 2014
This is version 71 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations