P70323 (TBX1_MOUSE) Reviewed, UniProtKB/Swiss-Prot
Last modified
April 3, 2013.
Version 116.
History...
Clusters with 
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: T-box transcription factor TBX1 Short name=T-box protein 1 Alternative name(s): Testis-specific T-box protein | ||
| Gene names |
| ||
| Organism | Mus musculus (Mouse) [Reference proteome] | ||
| Taxonomic identifier | 10090 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus |
Protein attributes
| Sequence length | 479 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries. Ref.1 Ref.2 |
| Subcellular location | Nucleus Potential. |
| Tissue specificity | Expressed in skeletal muscle, lung and testis. Ref.1 |
| Developmental stage | In the developing embryo, first expressed in the mesoderm at day 7.5. At day 9.5, primarily expressed in the head region, specifically the mesenchyme and epithelium of the pharyngeal region and the otic vesicle epithelium. By day 12.5, expression is still observed in the latter as well as in the tongue mesenchyme, tooth buds and branching lung epithelium. Ref.5 |
| Sequence similarities | Contains 1 T-box DNA-binding domain. |
Ontologies
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: P70323-1) 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: P70323-2) The sequence of this isoform differs from the canonical sequence as follows: 1-11: MHFSTVTRDME → MISAVSSPWLTQLSHFCDVA |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 479 | 479 | T-box transcription factor TBX1 | PRO_0000184424 | |||||
Regions | |||||||||
| DNA binding | 108 – 286 | 179 | T-box | ||||||
| Compositional bias | 24 – 65 | 42 | Pro-rich | ||||||
| Compositional bias | 429 – 446 | 18 | His-rich | ||||||
| Compositional bias | 448 – 473 | 26 | Ala-rich | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 11 | 11 | MHFSTVTRDME → MISAVSSPWLTQLSHFCDVA in isoform 2. | VSP_016760 | |||||
Experimental info | |||||||||
| Sequence conflict | 174 | 1 | A → R in AAC53106. Ref.3 | ||||||
| Sequence conflict | 183 – 184 | 2 | HY → YI in AAC52696. Ref.4 | ||||||
| Sequence conflict | 217 | 1 | Q → H in AAG61088. Ref.2 | ||||||
| Sequence conflict | 217 | 1 | Q → H in AAC53106. Ref.3 | ||||||
| Sequence conflict | 217 | 1 | Q → H in AAC52696. Ref.4 | ||||||
| Sequence conflict | 236 | 1 | D → A in AAC53106. Ref.3 | ||||||
| Sequence conflict | 236 | 1 | D → A in AAC52696. Ref.4 | ||||||
| Sequence conflict | 245 | 1 | A → E in AAC53106. Ref.3 | ||||||
| Sequence conflict | 245 | 1 | A → E in AAC52696. Ref.4 | ||||||
Sequences
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References
| [1] | "Tbx1, a DiGeorge syndrome candidate gene, is regulated by sonic hedgehog during pharyngeal arch development." Garg V., Yamagishi C., Hu T., Kathiriya I.S., Yamagishi H., Srivastava D. Dev. Biol. 235:62-73(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY. Strain: Swiss Webster / NIH. |
| [2] | "Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice." Lindsay E.A., Vitelli F., Su H., Morishima M., Huynh T., Pramparo T., Jurecic V., Ogunrinu G., Sutherland H.F., Scambler P.J., Bradley A., Baldini A. Nature 410:97-101(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION (ISOFORM 2). |
| [3] | "Evolution of mouse T-box genes by tandem duplication and cluster dispersion." Agulnik S.I., Garvey N., Hancock S., Ruvinsky I., Chapman D.L., Agulnik I., Bollag R.J., Papaioannou V.E., Silver L.M. Genetics 144:249-254(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 108-291 (ISOFORMS 1/2). Tissue: Embryo. |
| [4] | "An ancient family of embryonically expressed mouse genes sharing a conserved protein motif with the T locus." Bollag R.J., Siegfried Z., Cebra-Thomas J.A., Garvey N., Davison E.M., Silver L.M. Nat. Genet. 7:383-389(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 183-267 (ISOFORMS 1/2). Tissue: Embryo. |
| [5] | "Expression of the T-box family genes, Tbx1-Tbx5, during early mouse development." Chapman D.L., Garvey N., Hancock S., Alexiou M., Agulnik S.I., Gibson-Brown J.J., Cebra-Thomas J., Bollag R.J., Silver L.M., Papaioannou V.E. Dev. Dyn. 206:379-390(1996) [PubMed] [Europe PMC] [Abstract] Cited for: DEVELOPMENTAL STAGE. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF349658 mRNA. Translation: AAK14407.1. AF326960 mRNA. Translation: AAG61088.1. U57327 mRNA. Translation: AAC53106.1. U15565 mRNA. Translation: AAC52696.1. |
| IPI | IPI00117925. IPI00854014. |
| RefSeq | NP_035662.1. NM_011532.1. |
| UniGene | Mm.295194. |
3D structure databases | |
| ProteinModelPortal | P70323. |
| SMR | P70323. Positions 99-286. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | P70323. |
Proteomic databases | |
| PRIDE | P70323. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| GeneID | 21380. |
| KEGG | mmu:21380. |
Organism-specific databases | |
| CTD | 6899. |
| MGI | MGI:98493. Tbx1. |
Phylogenomic databases | |
| eggNOG | NOG272513. |
| HOGENOM | HOG000286000. |
| HOVERGEN | HBG014448. |
| KO | K10175. |
| OrthoDB | EOG4X6C88. |
Gene expression databases | |
| CleanEx | MM_TBX1. |
| Genevestigator | P70323. |
| GermOnline | ENSMUSG00000009097. Mus musculus. |
Family and domain databases | |
| Gene3D | 2.60.40.820. 1 hit. |
| InterPro | IPR008967. p53-like_TF_DNA-bd. IPR001699. TF_T-box. IPR018186. TF_T-box_CS. [Graphical view] |
| PANTHER | PTHR11267. PTHR11267. 1 hit. |
| Pfam | PF00907. T-box. 1 hit. [Graphical view] |
| PRINTS | PR00937. TBOX. |
| SMART | SM00425. TBOX. 1 hit. [Graphical view] |
| SUPFAM | SSF49417. P53_like_DNA_bnd. 1 hit. |
| PROSITE | PS01283. TBOX_1. 1 hit. PS01264. TBOX_2. 1 hit. PS50252. TBOX_3. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 300612. |
| SOURCE | Search... |
Entry information
| Entry name | TBX1_MOUSE | ||||||||
| Accession | Primary (citable) accession number: P70323 Secondary accession number(s): Q60706, Q99MP0, Q99P22 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
Relevant documents
| MGD cross-references Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |