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Q96PT3

- DUX5_HUMAN

UniProt

Q96PT3 - DUX5_HUMAN

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Protein
Double homeobox protein 5
Gene
DUX5
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at transcript leveli

Functioni

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi46 – 10560Homeobox 1
Add
BLAST
DNA bindingi121 – 18060Homeobox 2
Add
BLAST

GO - Molecular functioni

  1. sequence-specific DNA binding transcription factor activity Source: InterPro
  2. transcription regulatory region sequence-specific DNA binding Source: InterPro
Complete GO annotation...

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Double homeobox protein 5
Gene namesi
Name:DUX5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Unplaced

Organism-specific databases

HGNCiHGNC:3083. DUX5.

Subcellular locationi

Nucleus Inferred

GO - Cellular componenti

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

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA27535.
PA27539.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 197197Double homeobox protein 5
PRO_0000252414Add
BLAST

Proteomic databases

PRIDEiQ96PT3.

Expressioni

Tissue specificityi

Expressed in hepatoma Hep3B cells.1 Publication

Developmental stagei

Expressed in fetal tissue.1 Publication

Gene expression databases

GenevestigatoriQ96PT3.

Structurei

3D structure databases

ProteinModelPortaliQ96PT3.
SMRiQ96PT3. Positions 47-99, 120-177.

Family & Domainsi

Sequence similaritiesi

Belongs to the paired homeobox family.

Keywords - Domaini

Homeobox, Repeat

Phylogenomic databases

HOVERGENiHBG081466.
PhylomeDBiQ96PT3.

Family and domain databases

Gene3Di1.10.10.60. 2 hits.
InterProiIPR017970. Homeobox_CS.
IPR001356. 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.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q96PT3-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MPAEVHGSPP ASLCPCQSVK FRPGLPEMAL LTALDDTLPE EAQGPGRRMI    50
LLSTPSQSDA LRACFERNLY PGIATKEELA QGIDIPEPRV QIWFQNERSC 100
QLRQHRRQSR PWPGRRDPQK GRRKRTAITG SQTALLLRAF EKDRFPGIAA 150
REELARETGL PESRIQIWFQ NRRARHRGQS GRAPTQASIR CNAAPIG 197
Length:197
Mass (Da):22,164
Last modified:December 1, 2001 - v1
Checksum:i9F20E036413853F4
GO
Isoform 2 (identifier: Q96PT3-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:170
Mass (Da):19,347
Checksum:i7E3B34169B081F08
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti60 – 601A → V.
Corresponds to variant rs10865697 [ dbSNP | Ensembl ].
VAR_059347
Natural varianti118 – 1181P → L.
Corresponds to variant rs9755233 [ dbSNP | Ensembl ].
VAR_059348
Natural varianti119 – 1191Q → P.
Corresponds to variant rs12374009 [ dbSNP | Ensembl ].
VAR_059349
Natural varianti180 – 1801S → A.
Corresponds to variant rs12632317 [ dbSNP | Ensembl ].
VAR_059350
Natural varianti180 – 1801S → T.
Corresponds to variant rs12632317 [ dbSNP | Ensembl ].
VAR_059351

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 2727Missing in isoform 2.
VSP_020959Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF133131 Genomic DNA. Translation: AAD33598.1.
AF133131 Genomic DNA. Translation: AAL02243.1.
RefSeqiNP_036278.1. NM_012146.1. [Q96PT3-2]
NP_036281.2. NM_012149.2. [Q96PT3-1]
UniGeneiHs.274469.

Genome annotation databases

GeneIDi26581.
26584.
KEGGihsa:26581.
hsa:26584.

Polymorphism databases

DMDMi74717113.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF133131 Genomic DNA. Translation: AAD33598.1 .
AF133131 Genomic DNA. Translation: AAL02243.1 .
RefSeqi NP_036278.1. NM_012146.1. [Q96PT3-2 ]
NP_036281.2. NM_012149.2. [Q96PT3-1 ]
UniGenei Hs.274469.

3D structure databases

ProteinModelPortali Q96PT3.
SMRi Q96PT3. Positions 47-99, 120-177.
ModBasei Search...
MobiDBi Search...

Polymorphism databases

DMDMi 74717113.

Proteomic databases

PRIDEi Q96PT3.

Protocols and materials databases

DNASUi 26581.
26584.
Structural Biology Knowledgebase Search...

Genome annotation databases

GeneIDi 26581.
26584.
KEGGi hsa:26581.
hsa:26584.

Organism-specific databases

CTDi 26581.
26584.
HGNCi HGNC:3083. DUX5.
MIMi 611444. gene.
neXtProti NX_Q96PT3.
PharmGKBi PA27535.
PA27539.
GenAtlasi Search...

Phylogenomic databases

HOVERGENi HBG081466.
PhylomeDBi Q96PT3.

Miscellaneous databases

NextBioi 48938.
PROi Q96PT3.
SOURCEi Search...

Gene expression databases

Genevestigatori Q96PT3.

Family and domain databases

Gene3Di 1.10.10.60. 2 hits.
InterProi IPR017970. Homeobox_CS.
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 PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  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.

Entry informationi

Entry nameiDUX5_HUMAN
AccessioniPrimary (citable) accession number: Q96PT3
Entry historyi
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 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

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.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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