Gene: Tox3

Basic information

Tag Content
Uniprot ID Q80W03; Q8BIV8;
Entrez ID 244579
Genbank protein ID AAH52044.1; BAC38545.1;
Genbank nucleotide ID NM_172913.3
Ensembl protein ID ENSMUSP00000105250
Ensembl nucleotide ID ENSMUSG00000043668
Gene name TOX high mobility group box family member 3
Gene symbol Tox3
Organism Mus musculus
NCBI taxa ID 10090
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description Transcriptional coactivator of the p300/CBP-mediated transcription complex. Activates transactivation through cAMP response element (CRE) sites. Protects against cell death by inducing antiapoptotic and repressing pro-apoptotic transcripts. Stimulates transcription from the estrogen-responsive or BCL-2 promoters. Required for depolarization-induced transcription activation of the C-FOS promoter in neurons. Associates with chromatin to the estrogen-responsive C3 promoter region (By similarity).
Sequence
MDVRFYPAAA GDPAGLDFAQ CLGYYGYSKL GNNNYMNMAE ANNAFFAASE QTFHTPSLGD 60
EEFEIPPITP PPESDPTLGM PDALLPFQTL SDPLPSQGTE FTPQFPPQSL DLPSITISRN 120
LVEQDGVLHS NGLHMDQSHT QVSQYRQDPS LVMRSIVHMT DGARSGIMPP AQLTTINQSQ 180
LSAQLGLNLG GANVSHTSPS PPASKSATPS PSSSINEEDA DDANRAIGEK RTAPDSGKKP 240
KTPKKKKKKD PNEPQKPVSA YALFFRDTQA AIKGQNPNAT FGEVSKIVAS MWDSLGEEQK 300
QVYKRKTEAA KKEYLKALAA YRASLVSKAA AESAEAQTIR SVQQTLASTN LTSSLLLNTS 360
LSQHGTVPAS PQTLPQSLPR SIAPKPLTMR LPMSQIVTSV TIAANMPSNI GAPLISSMGT 420
TMVGSATSTQ VSPSVQTQQH QMQLQQQQQQ QQQMQQMQQQ QLQQHQMHQQ IQQQMQQQHF 480
QHHMQQHLQQ QQQQHLQQQL SQQQLQQQLQ QHLQLQQLQH MQHQSQPSPR QHSPVTSQIT 540
SPIPAIGSPQ PASQQHQPQI QSQTQTQVLP QVSIF 575

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologTOX3539135E1BKT2Bos taurusPredictionMore>>
1:1 orthologTOX3F1PDR6Canis lupus familiarisPredictionMore>>
1:1 orthologTOX3102186986A0A452E0C0Capra hircusPredictionMore>>
1:1 orthologTOX327324O15405Homo sapiensPublicationMore>>
1:1 orthologTox3244579Q80W03Mus musculusPredictionMore>>
1:1 orthologTOX3A0A2I3STP6Pan troglodytesPredictionMore>>
1:1 orthologA0A4X1U5I2Sus scrofaPredictionMore>>
1:1 orthologTox3F1LNE1Rattus norvegicusPredictionMore>>
1:1 orthologtox3555286E7FAU5Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
TOX3rs1420533GWAS26868259

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0003682 chromatin bindingISS
GO:0003682 chromatin bindingISO
GO:0034056 estrogen response element bindingISS
GO:0034056 estrogen response element bindingISO
GO:0042803 protein homodimerization activityISS
GO:0042803 protein homodimerization activityISO
GO:0051219 phosphoprotein bindingISO

GO:Biological Process

GO ID GO Term Evidence
GO:0006915 apoptotic processIEA
GO:0019722 calcium-mediated signalingISO
GO:0042981 regulation of apoptotic processISS
GO:0042981 regulation of apoptotic processISO
GO:0043524 negative regulation of neuron apoptotic processISS
GO:0043524 negative regulation of neuron apoptotic processISO
GO:0045893 positive regulation of transcription, DNA-templatedISS
GO:0045893 positive regulation of transcription, DNA-templatedISO

GO:Cellular Component

GO ID GO Term Evidence
GO:0005654 nucleoplasmISO
GO:0005829 cytosolISO

Reactome Pathway

Reactome ID Reactome Term Evidence

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0010 Activator
KW-0053 Apoptosis
KW-0238 DNA-binding
KW-0539 Nucleus
KW-1185 Reference proteome
KW-0804 Transcription
KW-0805 Transcription regulation

Interpro

InterPro ID InterPro Term
IPR009071 HMG_box_dom
IPR036910 HMG_box_dom_sf

PROSITE

PROSITE ID PROSITE Term
PS50118 HMG_BOX_2

Pfam

Pfam ID Pfam Term
PF00505 HMG_box

Protein-protein interaction

Protein-miRNA interaction