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O43435

- TBX1_HUMAN

UniProt

O43435 - TBX1_HUMAN

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Protein
T-box transcription factor TBX1
Gene
TBX1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - 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.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi119 – 297179T-box
Add
BLAST

GO - Molecular functioni

  1. DNA binding Source: UniProtKB
  2. protein dimerization activity Source: UniProtKB
  3. protein homodimerization activity Source: UniProtKB
  4. sequence-specific DNA binding Source: UniProtKB

GO - Biological processi

  1. angiogenesis Source: UniProtKB
  2. anterior/posterior pattern specification Source: UniProtKB
  3. aorta morphogenesis Source: UniProtKB
  4. artery morphogenesis Source: UniProtKB
  5. blood vessel development Source: UniProtKB
  6. blood vessel morphogenesis Source: UniProtKB
  7. blood vessel remodeling Source: Ensembl
  8. cell fate specification Source: UniProtKB
  9. cell proliferation Source: UniProtKB
  10. cellular response to fibroblast growth factor stimulus Source: UniProtKB
  11. cellular response to retinoic acid Source: UniProtKB
  12. cochlea morphogenesis Source: UniProtKB
  13. coronary artery morphogenesis Source: UniProtKB
  14. determination of left/right symmetry Source: UniProtKB
  15. ear morphogenesis Source: UniProtKB
  16. embryonic cranial skeleton morphogenesis Source: UniProtKB
  17. embryonic viscerocranium morphogenesis Source: UniProtKB
  18. enamel mineralization Source: UniProtKB
  19. epithelial cell differentiation Source: UniProtKB
  20. face morphogenesis Source: UniProtKB
  21. heart development Source: UniProtKB
  22. heart morphogenesis Source: UniProtKB
  23. inner ear morphogenesis Source: UniProtKB
  24. lymph vessel development Source: UniProtKB
  25. mesenchymal cell apoptotic process Source: UniProtKB
  26. mesoderm development Source: UniProtKB
  27. middle ear morphogenesis Source: UniProtKB
  28. muscle cell fate commitment Source: UniProtKB
  29. muscle organ development Source: UniProtKB
  30. muscle organ morphogenesis Source: UniProtKB
  31. muscle tissue morphogenesis Source: UniProtKB
  32. negative regulation of cell differentiation Source: UniProtKB
  33. negative regulation of mesenchymal cell apoptotic process Source: UniProtKB
  34. neural crest cell migration Source: UniProtKB
  35. odontogenesis of dentin-containing tooth Source: UniProtKB
  36. otic vesicle morphogenesis Source: Ensembl
  37. outer ear morphogenesis Source: UniProtKB
  38. outflow tract morphogenesis Source: UniProtKB
  39. outflow tract septum morphogenesis Source: UniProtKB
  40. parathyroid gland development Source: UniProtKB
  41. pattern specification process Source: UniProtKB
  42. pharyngeal system development Source: UniProtKB
  43. positive regulation of MAPK cascade Source: UniProtKB
  44. positive regulation of cell proliferation Source: UniProtKB
  45. positive regulation of epithelial cell proliferation Source: UniProtKB
  46. positive regulation of mesenchymal cell proliferation Source: UniProtKB
  47. positive regulation of protein phosphorylation Source: UniProtKB
  48. positive regulation of secondary heart field cardioblast proliferation Source: Ensembl
  49. positive regulation of tongue muscle cell differentiation Source: UniProtKB
  50. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  51. positive regulation of transcription, DNA-templated Source: UniProtKB
  52. regulation of organ morphogenesis Source: UniProtKB
  53. regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  54. retinoic acid receptor signaling pathway Source: UniProtKB
  55. semicircular canal morphogenesis Source: UniProtKB
  56. sensory perception of sound Source: UniProtKB
  57. social behavior Source: UniProtKB
  58. soft palate development Source: UniProtKB
  59. thymus development Source: UniProtKB
  60. thyroid gland development Source: UniProtKB
  61. tongue morphogenesis Source: UniProtKB
  62. transcription, DNA-templated Source: UniProtKB-KW
  63. vagus nerve morphogenesis Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 22

Organism-specific databases

HGNCiHGNC:11592. TBX1.

Subcellular locationi

Nucleus Reviewed prediction

GO - Cellular componenti

  1. nucleus Source: UniProtKB
Complete GO annotation...

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.1 Publication
DiGeorge syndrome (DGS) [MIM:188400]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti310 – 3101G → S in DGS. 1 Publication
Corresponds to variant rs41298838 [ dbSNP | Ensembl ].
VAR_034545
Velocardiofacial syndrome (VCFS) [MIM:192430]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti148 – 1481F → Y in CTHM and VCFS. 1 Publication
Corresponds to variant rs28939675 [ dbSNP | Ensembl ].
VAR_035025
Natural varianti194 – 1941H → Q in VCFS. 1 Publication
VAR_035026
Conotruncal heart malformations (CTHM) [MIM:217095]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti148 – 1481F → Y in CTHM and VCFS. 1 Publication
Corresponds to variant rs28939675 [ dbSNP | Ensembl ].
VAR_035025

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi188400. phenotype.
192430. phenotype.
217095. phenotype.
Orphaneti567. 22q11.2 deletion syndrome.
1727. 22q11.2 microduplication syndrome.
PharmGKBiPA36355.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 398398T-box transcription factor TBX1
PRO_0000184423Add
BLAST

Proteomic databases

MaxQBiO43435.
PaxDbiO43435.
PRIDEiO43435.

PTM databases

PhosphoSiteiO43435.

Expressioni

Gene expression databases

ArrayExpressiO43435.
BgeeiO43435.
CleanExiHS_TBX1.
GenevestigatoriO43435.

Organism-specific databases

HPAiHPA060863.

Interactioni

Subunit structurei

Interacts with DSCR6 By similarity.

Protein-protein interaction databases

BioGridi112762. 2 interactions.
STRINGi9606.ENSP00000331791.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi111 – 1144
Helixi117 – 12610
Beta strandi129 – 1313
Beta strandi143 – 1497
Beta strandi154 – 16512
Beta strandi167 – 1737
Turni174 – 1774
Beta strandi178 – 1847
Beta strandi200 – 2023
Helixi203 – 2086
Beta strandi211 – 2133
Beta strandi217 – 2193
Beta strandi236 – 24510
Beta strandi260 – 2645
Helixi266 – 2683
Beta strandi270 – 2756
Helixi279 – 28810
Helixi290 – 2956

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4A04X-ray2.58A/B109-297[»]
ProteinModelPortaliO43435.
SMRiO43435. Positions 108-297.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi43 – 486Poly-Pro
Compositional biasi54 – 574Poly-Ala
Compositional biasi61 – 677Poly-Pro
Compositional biasi94 – 996Poly-Ala

Sequence similaritiesi

Phylogenomic databases

eggNOGiNOG272513.
HOGENOMiHOG000286000.
HOVERGENiHBG014448.
KOiK10175.
OMAiANMYSAT.
OrthoDBiEOG7GN2PM.
PhylomeDBiO43435.
TreeFamiTF106341.

Family and domain databases

Gene3Di2.60.40.820. 1 hit.
InterProiIPR008967. p53-like_TF_DNA-bd.
IPR001699. TF_T-box.
IPR018186. TF_T-box_CS.
[Graphical view]
PANTHERiPTHR11267. PTHR11267. 1 hit.
PfamiPF00907. T-box. 1 hit.
[Graphical view]
PRINTSiPR00937. TBOX.
SMARTiSM00425. TBOX. 1 hit.
[Graphical view]
SUPFAMiSSF49417. SSF49417. 1 hit.
PROSITEiPS01283. TBOX_1. 1 hit.
PS01264. TBOX_2. 1 hit.
PS50252. TBOX_3. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

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

MHFSTVTRDM EAFTASSLSS LGAAGGFPGA ASPGADPYGP REPPPPPPRY    50
DPCAAAAPGA PGPPPPPHAY PFAPAAGAAT SAAAEPEGPG ASCAAAAKAP 100
VKKNAKVAGV SVQLEMKALW DEFNQLGTEM IVTKAGRRMF PTFQVKLFGM 150
DPMADYMLLM DFVPVDDKRY RYAFHSSSWL VAGKADPATP GRVHYHPDSP 200
AKGAQWMKQI VSFDKLKLTN NLLDDNGHII LNSMHRYQPR FHVVYVDPRK 250
DSEKYAEENF KTFVFEETRF TAVTAYQNHR ITQLKIASNP FAKGFRDCDP 300
EDWPRNHRPG ALPLMSAFAR SRNPVASPTQ PSGTEKGGHV LKDKEVKAET 350
SRNTPEREVE LLRDAGGCVN LGLPCPAECQ PFNTQGLVAG RTAGDRLC 398
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti148 – 1481F → Y in CTHM and VCFS. 1 Publication
Corresponds to variant rs28939675 [ dbSNP | Ensembl ].
VAR_035025
Natural varianti194 – 1941H → Q in VCFS. 1 Publication
VAR_035026
Natural varianti310 – 3101G → S in DGS. 1 Publication
Corresponds to variant rs41298838 [ dbSNP | Ensembl ].
VAR_034545
Natural varianti337 – 3371G → E in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036065
Natural varianti350 – 3501T → M.
Corresponds to variant rs4819522 [ dbSNP | Ensembl ].
VAR_024657

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei337 – 39862GGHVL…GDRLC → DAAEARREFQRDAGGPAVLG DPAHPPQLLARVLSPSLPGA GGAGGLVPLPGAPGGRPSPP NPELRLEAPGASEPLHHHPY KYPAAAYDHYLGAKSRPAPY PLPGLRGHGYHPHAHPHHHH HPVSPAAAAAAAAAAAAAAA NMYSSAGAAPPGSYDYCPR in isoform C.
VSP_007423Add
BLAST
Alternative sequencei338 – 39861GHVLK…GDRLC → LVTEGSGLQPGLLDVLLKPP SKKSESLRPPHCKDT in isoform B.
VSP_006383Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_006724312.1. [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.
UCSCiuc002zqb.3. human. [O43435-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_006724312.1. [O43435-3 ]
UniGenei Hs.173984.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
4A04 X-ray 2.58 A/B 109-297 [» ]
ProteinModelPortali O43435.
SMRi O43435. Positions 108-297.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112762. 2 interactions.
STRINGi 9606.ENSP00000331791.

PTM databases

PhosphoSitei O43435.

Proteomic databases

MaxQBi O43435.
PaxDbi O43435.
PRIDEi O43435.

Protocols and materials databases

Structural Biology Knowledgebase Search...

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 uc002zqb.3. human. [O43435-1 ]

Organism-specific databases

CTDi 6899.
GeneCardsi GC22P019747.
GeneReviewsi TBX1.
HGNCi HGNC:11592. TBX1.
HPAi HPA060863.
MIMi 188400. phenotype.
192430. phenotype.
217095. phenotype.
602054. gene.
neXtProti NX_O43435.
Orphaneti 567. 22q11.2 deletion syndrome.
1727. 22q11.2 microduplication syndrome.
PharmGKBi PA36355.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG272513.
HOGENOMi HOG000286000.
HOVERGENi HBG014448.
KOi K10175.
OMAi ANMYSAT.
OrthoDBi EOG7GN2PM.
PhylomeDBi O43435.
TreeFami TF106341.

Miscellaneous databases

GenomeRNAii 6899.
NextBioi 26967.
PROi O43435.
SOURCEi Search...

Gene expression databases

ArrayExpressi O43435.
Bgeei O43435.
CleanExi HS_TBX1.
Genevestigatori O43435.

Family and domain databases

Gene3Di 2.60.40.820. 1 hit.
InterProi IPR008967. p53-like_TF_DNA-bd.
IPR001699. TF_T-box.
IPR018186. TF_T-box_CS.
[Graphical view ]
PANTHERi PTHR11267. PTHR11267. 1 hit.
Pfami PF00907. T-box. 1 hit.
[Graphical view ]
PRINTSi PR00937. TBOX.
SMARTi SM00425. TBOX. 1 hit.
[Graphical view ]
SUPFAMi SSF49417. SSF49417. 1 hit.
PROSITEi PS01283. TBOX_1. 1 hit.
PS01264. TBOX_2. 1 hit.
PS50252. TBOX_3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene."
    Chieffo C., Garvey N., Gong W., Roe B., Zhang G., Silver L., Emanuel B.S., Budarf M.L.
    Genomics 43:267-277(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A AND B).
    Tissue: Skeletal muscle and Testis.
  2. "Mutation analysis of TBX1 in 105 patients."
    Gong W., Gottlieb S., Budarf M.L.
    Submitted (APR-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM C).
  3. NHLBI resequencing and genotyping service (RS&G)
    Submitted (DEC-2008) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: VARIANT CTMH/VCFS TYR-148, VARIANT DGS SER-310.
  6. Cited for: VARIANT [LARGE SCALE ANALYSIS] GLU-337.
  7. "Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions."
    Zweier C., Sticht H., Aydin-Yaylagul I., Campbell C.E., Rauch A.
    Am. J. Hum. Genet. 80:510-517(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT VCFS GLN-194.

Entry informationi

Entry nameiTBX1_HUMAN
AccessioniPrimary (citable) accession number: O43435
Secondary accession number(s): C6G493
, C6G494, O43436, Q96RJ2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: June 1, 1998
Last modified: July 9, 2014
This is version 130 of the entry and version 1 of the sequence. [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 chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi