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UniProtKB - O43435 (TBX1_HUMAN)

Protein

T-box transcription factor TBX1

Gene

TBX1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries (By similarity).By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi119 – 297T-boxPROSITE-ProRule annotationAdd BLAST179

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SIGNORiO43435

Names & Taxonomyi

Protein namesi
Recommended name:
T-box transcription factor TBX1
Short name:
T-box protein 1
Alternative name(s):
Testis-specific T-box protein
Gene namesi
Name:TBX1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000184058.12
HGNCiHGNC:11592 TBX1
MIMi602054 gene
neXtProtiNX_O43435

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & 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.
See also OMIM:188400
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_034545310G → 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.
See also OMIM:192430
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035026194H → 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.
See also OMIM:217095

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi6899
GeneReviewsiTBX1
MalaCardsiTBX1
MIMi188400 phenotype
192430 phenotype
217095 phenotype
OpenTargetsiENSG00000184058
Orphaneti567 22q11.2 deletion syndrome
1727 22q11.2 microduplication syndrome
3303 Tetralogy of Fallot
PharmGKBiPA36355

Polymorphism and mutation databases

BioMutaiTBX1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001844231 – 398T-box transcription factor TBX1Add BLAST398

Proteomic databases

MaxQBiO43435
PeptideAtlasiO43435
PRIDEiO43435
ProteomicsDBi48946
48947 [O43435-2]
48948 [O43435-3]

PTM databases

iPTMnetiO43435
PhosphoSitePlusiO43435

Expressioni

Gene expression databases

BgeeiENSG00000184058 Expressed in 184 organ(s), highest expression level in vastus lateralis
CleanExiHS_TBX1
ExpressionAtlasiO43435 baseline and differential
GenevisibleiO43435 HS

Organism-specific databases

HPAiHPA029330

Interactioni

Subunit structurei

Interacts with DSCR6.By similarity

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi112762, 4 interactors

Structurei

Secondary structure

1398
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliO43435
SMRiO43435
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi43 – 48Poly-Pro6
Compositional biasi54 – 57Poly-Ala4
Compositional biasi61 – 67Poly-Pro7
Compositional biasi94 – 99Poly-Ala6

Phylogenomic databases

GeneTreeiENSGT00760000118897
HOGENOMiHOG000286000
HOVERGENiHBG014448
InParanoidiO43435
KOiK10175
OMAiHPYKYPT
PhylomeDBiO43435
TreeFamiTF106341

Family and domain databases

CDDicd00182 TBOX, 1 hit
Gene3Di2.60.40.820, 1 hit
InterProiView protein in InterPro
IPR008967 p53-like_TF_DNA-bd
IPR036960 T-box_sf
IPR001699 TF_T-box
IPR018186 TF_T-box_CS
PANTHERiPTHR11267 PTHR11267, 1 hit
PfamiView protein in Pfam
PF00907 T-box, 1 hit
PRINTSiPR00937 TBOX
SMARTiView protein in SMART
SM00425 TBOX, 1 hit
SUPFAMiSSF49417 SSF49417, 1 hit
PROSITEiView protein in PROSITE
PS01283 TBOX_1, 1 hit
PS01264 TBOX_2, 1 hit
PS50252 TBOX_3, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform A (identifier: O43435-1) [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
        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
Length:398
Mass (Da):43,133
Last modified:June 1, 1998 - v1
Checksum:iFAF0F3FA0CDC6176
GO
Isoform B (identifier: O43435-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     338-398: GHVLKDKEVK...AGRTAGDRLC → LVTEGSGLQPGLLDVLLKPPSKKSESLRPPHCKDT

Show »
Length:372
Mass (Da):40,353
Checksum:iDC6B41E913C8BB25
GO
Isoform C (identifier: O43435-3) [UniParc]FASTAAdd to basket
Also known as: TBX1C

The sequence of this isoform differs from the canonical sequence as follows:
     337-398: GGHVLKDKEV...AGRTAGDRLC → DAAEARREFQ...PPGSYDYCPR

Show »
Length:495
Mass (Da):52,666
Checksum:iFB0C150FEA6155FC
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035025148F → Y in CTHM and VCFS. 1 PublicationCorresponds to variant dbSNP:rs28939675EnsemblClinVar.1
Natural variantiVAR_035026194H → Q in VCFS. 1 PublicationCorresponds to variant dbSNP:rs74315522EnsemblClinVar.1
Natural variantiVAR_034545310G → S in DGS. 1 PublicationCorresponds to variant dbSNP:rs41298838EnsemblClinVar.1
Natural variantiVAR_036065337G → E in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_024657350T → M. Corresponds to variant dbSNP:rs4819522EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_007423337 – 398GGHVL…GDRLC → DAAEARREFQRDAGGPAVLG DPAHPPQLLARVLSPSLPGA GGAGGLVPLPGAPGGRPSPP NPELRLEAPGASEPLHHHPY KYPAAAYDHYLGAKSRPAPY PLPGLRGHGYHPHAHPHHHH HPVSPAAAAAAAAAAAAAAA NMYSSAGAAPPGSYDYCPR in isoform C. 1 PublicationAdd BLAST62
Alternative sequenceiVSP_006383338 – 398GHVLK…GDRLC → LVTEGSGLQPGLLDVLLKPP SKKSESLRPPHCKDT in isoform B. 1 PublicationAdd BLAST61

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
CCDSiCCDS13765.1 [O43435-2]
CCDS13766.1 [O43435-1]
CCDS13767.1 [O43435-3]
RefSeqiNP_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]
UniGeneiHs.173984

Genome annotation databases

EnsembliENST00000329705; ENSP00000331176; ENSG00000184058 [O43435-1]
ENST00000332710; ENSP00000331791; ENSG00000184058 [O43435-3]
ENST00000359500; ENSP00000352483; ENSG00000184058 [O43435-2]
GeneIDi6899
KEGGihsa:6899
UCSCiuc002zqa.2 human [O43435-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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
CCDSiCCDS13765.1 [O43435-2]
CCDS13766.1 [O43435-1]
CCDS13767.1 [O43435-3]
RefSeqiNP_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]
UniGeneiHs.173984

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4A04X-ray2.58A/B109-297[»]
ProteinModelPortaliO43435
SMRiO43435
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112762, 4 interactors

PTM databases

iPTMnetiO43435
PhosphoSitePlusiO43435

Polymorphism and mutation databases

BioMutaiTBX1

Proteomic databases

MaxQBiO43435
PeptideAtlasiO43435
PRIDEiO43435
ProteomicsDBi48946
48947 [O43435-2]
48948 [O43435-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000329705; ENSP00000331176; ENSG00000184058 [O43435-1]
ENST00000332710; ENSP00000331791; ENSG00000184058 [O43435-3]
ENST00000359500; ENSP00000352483; ENSG00000184058 [O43435-2]
GeneIDi6899
KEGGihsa:6899
UCSCiuc002zqa.2 human [O43435-1]

Organism-specific databases

CTDi6899
DisGeNETi6899
EuPathDBiHostDB:ENSG00000184058.12
GeneCardsiTBX1
GeneReviewsiTBX1
HGNCiHGNC:11592 TBX1
HPAiHPA029330
MalaCardsiTBX1
MIMi188400 phenotype
192430 phenotype
217095 phenotype
602054 gene
neXtProtiNX_O43435
OpenTargetsiENSG00000184058
Orphaneti567 22q11.2 deletion syndrome
1727 22q11.2 microduplication syndrome
3303 Tetralogy of Fallot
PharmGKBiPA36355
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00760000118897
HOGENOMiHOG000286000
HOVERGENiHBG014448
InParanoidiO43435
KOiK10175
OMAiHPYKYPT
PhylomeDBiO43435
TreeFamiTF106341

Enzyme and pathway databases

SIGNORiO43435

Miscellaneous databases

ChiTaRSiTBX1 human
GenomeRNAii6899
PROiPR:O43435
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000184058 Expressed in 184 organ(s), highest expression level in vastus lateralis
CleanExiHS_TBX1
ExpressionAtlasiO43435 baseline and differential
GenevisibleiO43435 HS

Family and domain databases

CDDicd00182 TBOX, 1 hit
Gene3Di2.60.40.820, 1 hit
InterProiView protein in InterPro
IPR008967 p53-like_TF_DNA-bd
IPR036960 T-box_sf
IPR001699 TF_T-box
IPR018186 TF_T-box_CS
PANTHERiPTHR11267 PTHR11267, 1 hit
PfamiView protein in Pfam
PF00907 T-box, 1 hit
PRINTSiPR00937 TBOX
SMARTiView protein in SMART
SM00425 TBOX, 1 hit
SUPFAMiSSF49417 SSF49417, 1 hit
PROSITEiView protein in PROSITE
PS01283 TBOX_1, 1 hit
PS01264 TBOX_2, 1 hit
PS50252 TBOX_3, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTBX1_HUMAN
AccessioniPrimary (citable) accession number: O43435
Secondary accession number(s): C6G493
, C6G494, O43436, Q96RJ2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: June 1, 1998
Last modified: November 7, 2018
This is version 161 of the entry and version 1 of the sequence. See 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

Keywords - Technical termi

3D-structure, 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. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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