UniProtKB - O43435 (TBX1_HUMAN)
Protein
T-box transcription factor TBX1
Gene
TBX1
Organism
Homo sapiens (Human)
Status
Functioni
Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries (By similarity).By similarity
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 119 – 297 | T-boxPROSITE-ProRule annotationAdd BLAST | 179 |
GO - Molecular functioni
- DNA binding Source: UniProtKB
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- protein dimerization activity Source: UniProtKB
- protein homodimerization activity Source: UniProtKB
- RNA polymerase II transcription regulatory region sequence-specific DNA binding Source: GO_Central
- sequence-specific DNA binding Source: UniProtKB
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
GO - Biological processi
- angiogenesis Source: UniProtKB
- anterior/posterior pattern specification Source: UniProtKB
- aorta morphogenesis Source: UniProtKB
- artery morphogenesis Source: UniProtKB
- blood vessel development Source: UniProtKB
- blood vessel morphogenesis Source: UniProtKB
- cell fate specification Source: UniProtKB
- cell population proliferation Source: UniProtKB
- cellular response to fibroblast growth factor stimulus Source: UniProtKB
- cellular response to retinoic acid Source: UniProtKB
- cochlea morphogenesis Source: UniProtKB
- coronary artery morphogenesis Source: UniProtKB
- determination of left/right symmetry Source: UniProtKB
- ear morphogenesis Source: UniProtKB
- embryonic cranial skeleton morphogenesis Source: UniProtKB
- embryonic viscerocranium morphogenesis Source: UniProtKB
- enamel mineralization Source: UniProtKB
- epithelial cell differentiation Source: UniProtKB
- face morphogenesis Source: UniProtKB
- heart development Source: UniProtKB
- heart morphogenesis Source: UniProtKB
- inner ear morphogenesis Source: UniProtKB
- lymph vessel development Source: UniProtKB
- mesenchymal cell apoptotic process Source: UniProtKB
- mesoderm development Source: UniProtKB
- middle ear morphogenesis Source: UniProtKB
- muscle cell fate commitment Source: UniProtKB
- muscle organ development Source: UniProtKB
- muscle organ morphogenesis Source: UniProtKB
- muscle tissue morphogenesis Source: UniProtKB
- negative regulation of cell differentiation Source: UniProtKB
- negative regulation of mesenchymal cell apoptotic process Source: UniProtKB
- negative regulation of transcription by RNA polymerase II Source: GO_Central
- neural crest cell migration Source: UniProtKB
- odontogenesis of dentin-containing tooth Source: UniProtKB
- outer ear morphogenesis Source: UniProtKB
- outflow tract morphogenesis Source: UniProtKB
- outflow tract septum morphogenesis Source: UniProtKB
- parathyroid gland development Source: UniProtKB
- pattern specification process Source: UniProtKB
- pharyngeal system development Source: UniProtKB
- positive regulation of cell population proliferation Source: UniProtKB
- positive regulation of epithelial cell proliferation Source: UniProtKB
- positive regulation of MAPK cascade Source: UniProtKB
- positive regulation of mesenchymal cell proliferation Source: UniProtKB
- positive regulation of protein phosphorylation Source: UniProtKB
- positive regulation of tongue muscle cell differentiation Source: UniProtKB
- positive regulation of transcription, DNA-templated Source: UniProtKB
- positive regulation of transcription by RNA polymerase II Source: UniProtKB
- regulation of animal organ morphogenesis Source: UniProtKB
- regulation of transcription by RNA polymerase II Source: UniProtKB
- retinoic acid receptor signaling pathway Source: UniProtKB
- semicircular canal morphogenesis Source: UniProtKB
- sensory perception of sound Source: UniProtKB
- social behavior Source: UniProtKB
- soft palate development Source: UniProtKB
- thymus development Source: UniProtKB
- thyroid gland development Source: UniProtKB
- tongue morphogenesis Source: UniProtKB
- vagus nerve morphogenesis Source: UniProtKB
Keywordsi
Molecular function | Developmental protein, DNA-binding |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | O43435 |
SIGNORi | O43435 |
Names & Taxonomyi
Protein namesi | Recommended name: T-box transcription factor TBX1Short name: T-box protein 1 Alternative name(s): Testis-specific T-box protein |
Gene namesi | Name:TBX1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000184058.12 |
HGNCi | HGNC:11592, TBX1 |
MIMi | 602054, gene |
neXtProti | NX_O43435 |
Subcellular locationi
Nucleus
- Nucleus PROSITE-ProRule annotation
Nucleus
- nuclear chromatin Source: NTNU_SB
- nucleus Source: UniProtKB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Haploinsufficiency of the TBX1 gene is responsible for most of the physical malformations present in DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). DGS is characterized by the association of several malformations: hypoplastic thymus and parathyroid glands, congenital conotruncal cardiopathy, and a subtle but characteristic facial dysmorphology. VCFS is marked by the association of congenital conotruncal heart defects, cleft palate or velar insufficiency, facial dysmorpholgy and learning difficulties. It is now accepted that these two syndromes represent two forms of clinical expression of the same entity manifesting at different stages of life.
DiGeorge syndrome (DGS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA congenital syndrome characterized by a wide spectrum of characteristics including parathyroid hypoplasia resulting in hypocalcemia, thymic hypoplasia resulting in T-cell immunodeficiency, defects in the outflow tract of the heart, and craniofacial anomalies. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_034545 | 310 | G → S in DGS. 1 PublicationCorresponds to variant dbSNP:rs41298838EnsemblClinVar. | 1 |
Velocardiofacial syndrome (VCFS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by abnormal pharyngeal arch development that results in defective development of the parathyroid glands, thymus, and conotruncal region of the heart. The phenotype is highly variable, with no single clinical feature present in every patient. Affected individuals may present with structural or functional palatal abnormalities, cardiac defects, unique facial characteristics, hypernasal speech, hypotonia, and defective thymic development associated with impaired immune function. In addition, affected individuals may present with learning disabilities, overt developmental delay, and psychiatric disorders.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_035025 | 148 | F → Y in CTHM and VCFS. 1 PublicationCorresponds to variant dbSNP:rs28939675EnsemblClinVar. | 1 | |
Natural variantiVAR_035026 | 194 | H → Q in VCFS. 1 PublicationCorresponds to variant dbSNP:rs74315522EnsemblClinVar. | 1 |
Conotruncal heart malformations (CTHM)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_035025 | 148 | F → Y in CTHM and VCFS. 1 PublicationCorresponds to variant dbSNP:rs28939675EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 6899 |
GeneReviewsi | TBX1 |
MalaCardsi | TBX1 |
MIMi | 188400, phenotype 192430, phenotype 217095, phenotype |
OpenTargetsi | ENSG00000184058 |
Orphaneti | 567, 22q11.2 deletion syndrome 1727, 22q11.2 microduplication syndrome 3303, Tetralogy of Fallot |
PharmGKBi | PA36355 |
Miscellaneous databases
Pharosi | O43435, Tbio |
Polymorphism and mutation databases
BioMutai | TBX1 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000184423 | 1 – 398 | T-box transcription factor TBX1Add BLAST | 398 |
Proteomic databases
jPOSTi | O43435 |
MassIVEi | O43435 |
MaxQBi | O43435 |
PeptideAtlasi | O43435 |
PRIDEi | O43435 |
ProteomicsDBi | 48946 [O43435-1] 48947 [O43435-2] 48948 [O43435-3] |
PTM databases
iPTMneti | O43435 |
PhosphoSitePlusi | O43435 |
Expressioni
Gene expression databases
Bgeei | ENSG00000184058, Expressed in skeletal muscle tissue and 197 other tissues |
ExpressionAtlasi | O43435, baseline and differential |
Genevisiblei | O43435, HS |
Organism-specific databases
HPAi | ENSG00000184058, Tissue enriched (skeletal) |
Interactioni
Subunit structurei
Interacts with DSCR6.
By similarityBinary interactionsi
O43435
With | #Exp. | IntAct |
---|---|---|
RIPPLY3 [P57055] | 2 | EBI-21460353,EBI-12092053 |
GO - Molecular functioni
- protein dimerization activity Source: UniProtKB
- protein homodimerization activity Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 112762, 4 interactors |
IntActi | O43435, 1 interactor |
STRINGi | 9606.ENSP00000331791 |
Miscellaneous databases
RNActi | O43435, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | O43435 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 43 – 48 | Poly-Pro | 6 | |
Compositional biasi | 54 – 57 | Poly-Ala | 4 | |
Compositional biasi | 61 – 67 | Poly-Pro | 7 | |
Compositional biasi | 94 – 99 | Poly-Ala | 6 |
Phylogenomic databases
eggNOGi | KOG3586, Eukaryota |
GeneTreei | ENSGT00940000154816 |
HOGENOMi | CLU_014430_9_1_1 |
InParanoidi | O43435 |
OMAi | TTYEHYL |
OrthoDBi | 1185429at2759 |
PhylomeDBi | O43435 |
TreeFami | TF106341 |
Family and domain databases
CDDi | cd00182, TBOX, 1 hit |
Gene3Di | 2.60.40.820, 1 hit |
InterProi | View protein in InterPro IPR008967, p53-like_TF_DNA-bd IPR036960, T-box_sf IPR001699, TF_T-box IPR018186, TF_T-box_CS |
PANTHERi | PTHR11267, PTHR11267, 1 hit |
Pfami | View protein in Pfam PF00907, T-box, 1 hit |
PRINTSi | PR00937, TBOX |
SMARTi | View protein in SMART SM00425, TBOX, 1 hit |
SUPFAMi | SSF49417, SSF49417, 1 hit |
PROSITEi | View protein in PROSITE PS01283, TBOX_1, 1 hit PS01264, TBOX_2, 1 hit PS50252, TBOX_3, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform A (identifier: O43435-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MHFSTVTRDM EAFTASSLSS LGAAGGFPGA ASPGADPYGP REPPPPPPRY
60 70 80 90 100
DPCAAAAPGA PGPPPPPHAY PFAPAAGAAT SAAAEPEGPG ASCAAAAKAP
110 120 130 140 150
VKKNAKVAGV SVQLEMKALW DEFNQLGTEM IVTKAGRRMF PTFQVKLFGM
160 170 180 190 200
DPMADYMLLM DFVPVDDKRY RYAFHSSSWL VAGKADPATP GRVHYHPDSP
210 220 230 240 250
AKGAQWMKQI VSFDKLKLTN NLLDDNGHII LNSMHRYQPR FHVVYVDPRK
260 270 280 290 300
DSEKYAEENF KTFVFEETRF TAVTAYQNHR ITQLKIASNP FAKGFRDCDP
310 320 330 340 350
EDWPRNHRPG ALPLMSAFAR SRNPVASPTQ PSGTEKGGHV LKDKEVKAET
360 370 380 390
SRNTPEREVE LLRDAGGCVN LGLPCPAECQ PFNTQGLVAG RTAGDRLC
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A3B3IS18 | A0A3B3IS18_HUMAN | T-box transcription factor TBX1 | TBX1 | 504 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_035025 | 148 | F → Y in CTHM and VCFS. 1 PublicationCorresponds to variant dbSNP:rs28939675EnsemblClinVar. | 1 | |
Natural variantiVAR_035026 | 194 | H → Q in VCFS. 1 PublicationCorresponds to variant dbSNP:rs74315522EnsemblClinVar. | 1 | |
Natural variantiVAR_034545 | 310 | G → S in DGS. 1 PublicationCorresponds to variant dbSNP:rs41298838EnsemblClinVar. | 1 | |
Natural variantiVAR_036065 | 337 | G → E in a colorectal cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_024657 | 350 | T → M. Corresponds to variant dbSNP:rs4819522Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_007423 | 337 – 398 | GGHVL…GDRLC → DAAEARREFQRDAGGPAVLG DPAHPPQLLARVLSPSLPGA GGAGGLVPLPGAPGGRPSPP NPELRLEAPGASEPLHHHPY KYPAAAYDHYLGAKSRPAPY PLPGLRGHGYHPHAHPHHHH HPVSPAAAAAAAAAAAAAAA NMYSSAGAAPPGSYDYCPR in isoform C. 1 PublicationAdd BLAST | 62 | |
Alternative sequenceiVSP_006383 | 338 – 398 | GHVLK…GDRLC → LVTEGSGLQPGLLDVLLKPP SKKSESLRPPHCKDT in isoform B. 1 PublicationAdd BLAST | 61 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF012130 mRNA Translation: AAB94018.1 AF012131 mRNA Translation: AAB94019.1 AF373867 mRNA Translation: AAK58955.1 FJ515849 Genomic DNA Translation: ACS13741.1 FJ515849 Genomic DNA Translation: ACS13742.1 CH471176 Genomic DNA Translation: EAX03024.1 CH471176 Genomic DNA Translation: EAX03025.1 |
CCDSi | CCDS13765.1 [O43435-2] CCDS13766.1 [O43435-1] CCDS13767.1 [O43435-3] |
RefSeqi | NP_005983.1, NM_005992.1 [O43435-2] NP_542377.1, NM_080646.1 [O43435-1] NP_542378.1, NM_080647.1 [O43435-3] XP_006724375.1, XM_006724312.2 [O43435-3] XP_016884415.1, XM_017028926.1 [O43435-3] |
Genome annotation databases
Ensembli | ENST00000329705; ENSP00000331176; ENSG00000184058 [O43435-1] ENST00000332710; ENSP00000331791; ENSG00000184058 [O43435-3] ENST00000359500; ENSP00000352483; ENSG00000184058 [O43435-2] |
GeneIDi | 6899 |
KEGGi | hsa:6899 |
UCSCi | uc002zqa.2, human [O43435-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF012130 mRNA Translation: AAB94018.1 AF012131 mRNA Translation: AAB94019.1 AF373867 mRNA Translation: AAK58955.1 FJ515849 Genomic DNA Translation: ACS13741.1 FJ515849 Genomic DNA Translation: ACS13742.1 CH471176 Genomic DNA Translation: EAX03024.1 CH471176 Genomic DNA Translation: EAX03025.1 |
CCDSi | CCDS13765.1 [O43435-2] CCDS13766.1 [O43435-1] CCDS13767.1 [O43435-3] |
RefSeqi | NP_005983.1, NM_005992.1 [O43435-2] NP_542377.1, NM_080646.1 [O43435-1] NP_542378.1, NM_080647.1 [O43435-3] XP_006724375.1, XM_006724312.2 [O43435-3] XP_016884415.1, XM_017028926.1 [O43435-3] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4A04 | X-ray | 2.58 | A/B | 109-297 | [»] | |
SMRi | O43435 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 112762, 4 interactors |
IntActi | O43435, 1 interactor |
STRINGi | 9606.ENSP00000331791 |
PTM databases
iPTMneti | O43435 |
PhosphoSitePlusi | O43435 |
Polymorphism and mutation databases
BioMutai | TBX1 |
Proteomic databases
jPOSTi | O43435 |
MassIVEi | O43435 |
MaxQBi | O43435 |
PeptideAtlasi | O43435 |
PRIDEi | O43435 |
ProteomicsDBi | 48946 [O43435-1] 48947 [O43435-2] 48948 [O43435-3] |
Protocols and materials databases
Antibodypediai | 22982, 301 antibodies |
Genome annotation databases
Ensembli | ENST00000329705; ENSP00000331176; ENSG00000184058 [O43435-1] ENST00000332710; ENSP00000331791; ENSG00000184058 [O43435-3] ENST00000359500; ENSP00000352483; ENSG00000184058 [O43435-2] |
GeneIDi | 6899 |
KEGGi | hsa:6899 |
UCSCi | uc002zqa.2, human [O43435-1] |
Organism-specific databases
CTDi | 6899 |
DisGeNETi | 6899 |
EuPathDBi | HostDB:ENSG00000184058.12 |
GeneCardsi | TBX1 |
GeneReviewsi | TBX1 |
HGNCi | HGNC:11592, TBX1 |
HPAi | ENSG00000184058, Tissue enriched (skeletal) |
MalaCardsi | TBX1 |
MIMi | 188400, phenotype 192430, phenotype 217095, phenotype 602054, gene |
neXtProti | NX_O43435 |
OpenTargetsi | ENSG00000184058 |
Orphaneti | 567, 22q11.2 deletion syndrome 1727, 22q11.2 microduplication syndrome 3303, Tetralogy of Fallot |
PharmGKBi | PA36355 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3586, Eukaryota |
GeneTreei | ENSGT00940000154816 |
HOGENOMi | CLU_014430_9_1_1 |
InParanoidi | O43435 |
OMAi | TTYEHYL |
OrthoDBi | 1185429at2759 |
PhylomeDBi | O43435 |
TreeFami | TF106341 |
Enzyme and pathway databases
PathwayCommonsi | O43435 |
SIGNORi | O43435 |
Miscellaneous databases
BioGRID-ORCSi | 6899, 14 hits in 867 CRISPR screens |
ChiTaRSi | TBX1, human |
GenomeRNAii | 6899 |
Pharosi | O43435, Tbio |
PROi | PR:O43435 |
RNActi | O43435, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000184058, Expressed in skeletal muscle tissue and 197 other tissues |
ExpressionAtlasi | O43435, baseline and differential |
Genevisiblei | O43435, HS |
Family and domain databases
CDDi | cd00182, TBOX, 1 hit |
Gene3Di | 2.60.40.820, 1 hit |
InterProi | View protein in InterPro IPR008967, p53-like_TF_DNA-bd IPR036960, T-box_sf IPR001699, TF_T-box IPR018186, TF_T-box_CS |
PANTHERi | PTHR11267, PTHR11267, 1 hit |
Pfami | View protein in Pfam PF00907, T-box, 1 hit |
PRINTSi | PR00937, TBOX |
SMARTi | View protein in SMART SM00425, TBOX, 1 hit |
SUPFAMi | SSF49417, SSF49417, 1 hit |
PROSITEi | View protein in PROSITE PS01283, TBOX_1, 1 hit PS01264, TBOX_2, 1 hit PS50252, TBOX_3, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | TBX1_HUMAN | |
Accessioni | O43435Primary (citable) accession number: O43435 Secondary accession number(s): C6G493 Q96RJ2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 15, 1999 |
Last sequence update: | June 1, 1998 | |
Last modified: | December 2, 2020 | |
This is version 176 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - Human chromosome 22
Human chromosome 22: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations