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Details on Person UniProt:O15119 TBX3

Class:IdReferenceGeneProduct:65731
_chainChangeLogchain:1-743 added on Sat February 7 2015
_displayNameUniProt:O15119 TBX3
_timestamp2024-11-03 19:54:17
chainchain:1-743
checksumD5572F9CF871E89F
commentFUNCTION Transcriptional repressor involved in developmental processes (PubMed:10468588). Binds to the palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence, or a half-site, which are present in the regulatory region of several genes (PubMed:12000749). Probably plays a role in limb pattern formation (PubMed:10468588). Required for mammary placode induction, and maintenance of the mammary buds during development (By similarity). Involved in branching morphogenesis in both developing lungs and adult mammary glands, via negative modulation of target genes; acting redundantly with TBX2 (By similarity). Required, together with TBX2, to maintain cell proliferation in the embryonic lung mesenchyme; perhaps acting downstream of SHH, BMP and TGFbeta signaling (By similarity). Involved in modulating early inner ear development, acting independently of, and also redundantly with, TBX2 in different subregions of the developing ear (By similarity). Acts as a negative regulator of PML function in cellular senescence (PubMed:22002537).SUBUNIT Interacts with PML (isoform PML-4).INTERACTION Widely expressed.DISEASE The disease is caused by variants affecting the gene represented in this entry.MISCELLANEOUS Contains an interrupted T-box domain.MISCELLANEOUS Contains an interrupted T-box domain.MISCELLANEOUS May be produced by joining exon 1 to exon 7 thereby eliminating the T-box.
descriptionrecommendedName: T-box transcription factor TBX3 shortName: T-box protein 3
geneNameTBX3
identifierO15119
isSequenceChangedFALSE
keyword3D-structure
Alternative splicing
Developmental protein
Disease variant
DNA-binding
Nucleus
Phosphoprotein
Proteomics identification
Reference proteome
Repressor
Transcription
Transcription regulation
modified[InstanceEdit:9836292] Weiser, Joel, 2023-05-25
[InstanceEdit:9852000] Weiser, Joel, 2023-11-03
[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
nameTBX3
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:8989260] ENSEMBL:ENSG00000135111 TBX3 [Homo sapiens]
secondaryIdentifierTBX3_HUMAN
Q8TB20
Q9UKF8
sequenceLength743
species[Species:48887] Homo sapiens
(isoformParent)[ReferenceIsoform:154758] UniProt:O15119-2 TBX3 [Homo sapiens]
[ReferenceIsoform:154759] UniProt:O15119-3 TBX3 [Homo sapiens]
[ReferenceIsoform:154760] UniProt:O15119-4 TBX3 [Homo sapiens]
[ReferenceIsoform:401304] UniProt:O15119-1 TBX3 [Homo sapiens]
(referenceEntity)[EntityWithAccessionedSequence:9825678] TBX3 [nucleoplasm] [Homo sapiens]
[EntityWithAccessionedSequence:9825680] p-S742 TBX3 [nucleoplasm] [Homo sapiens]
(referenceSequence)[ModifiedResidue:9825681] O-phospho-L-serine at 742
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