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Reviewed, UniProtKB/Swiss-Prot O43435 (TBX1_HUMAN)

Last modified November 25, 2008. Version 75. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    T-box transcription factor TBX1
      Short name=T-box protein 1
Alternative name(s):
    Testis-specific T-box protein
Gene names
Name: TBX1
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length398 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

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

Subcellular location

NucleusPotential.

Involvement in disease

Haploinsufficiency of the TBX1 gene is responsible for most of the physical malformations present in DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS) [MIM:188400, 192430]. 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.

Defects in TBX1 are a cause of DiGeorge syndrome (DGS) [MIM:188400].

Defects in TBX1 are a cause of velocardiofacial syndrome (VCFS) [MIM:192430].

Defects in TBX1 are a cause of conotruncal heart malformations (CTHM) [MIM:217095]. CTHM consist of cardiac outflow tract defects, such as tetralogy of Fallot, pulmonary atresia, double-outlet right ventricle, truncus arteriosus communis, and aortic arch anomalies.

Sequence similarities

Contains 1 T-box DNA-binding domain.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform A (identifier: O43435-1)

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 B (identifier: O43435-2)

The sequence of this isoform differs from the canonical sequence as follows:
     338-398: GHVLKDKEVK...AGRTAGDRLC → LVTEGSGLQPGLLDVLLKPPSKKSESLRPPHCKDT
Isoform C (identifier: O43435-3)

Also known as: TBX1C;

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 398398T-box transcription factor TBX1
PRO_0000184423

Regions

DNA binding119 – 297179T-box
Compositional bias43 – 486Poly-Pro
Compositional bias54 – 574Poly-Ala
Compositional bias61 – 677Poly-Pro
Compositional bias94 – 996Poly-Ala

Natural variations

Alternative sequence337 – 39862GGHVL…GDRLC → DAAEARREFQRDAGGPAVLG DPAHPPQLLARVLSPSLPGA GGAGGLVPLPGAPGGRPSPP NPELRLEAPGASEPLHHHPY KYPAAAYDHYLGAKSRPAPY PLPGLRGHGYHPHAHPHHHH HPVSPAAAAAAAAAAAAAAA NMYSSAGAAPPGSYDYCPR in isoform C.
VSP_007423
Alternative sequence338 – 39861GHVLK…GDRLC → LVTEGSGLQPGLLDVLLKPP SKKSESLRPPHCKDT in isoform B.
VSP_006383
Natural variant1481F → Y in CTHM and VCFS.
VAR_035025
Natural variant1941H → Q in VCFS.
VAR_035026
Natural variant3101G → S in DGS. dbSNP rs41298838.
VAR_034545
Natural variant3371G → E in a colorectal cancer sample; somatic mutation.
VAR_036065
Natural variant3501T → M: dbSNP rs4819522.
VAR_024657

Sequences

Sequence LengthMass (Da)Tools
Isoform A [UniParc].

Last modified June 1, 1998. Version 1.
Checksum: FAF0F3FA0CDC6176

FASTA39843,133
        10         20         30         40         50         60 
MHFSTVTRDM EAFTASSLSS LGAAGGFPGA ASPGADPYGP REPPPPPPRY DPCAAAAPGA 

        70         80         90        100        110        120 
PGPPPPPHAY PFAPAAGAAT SAAAEPEGPG ASCAAAAKAP VKKNAKVAGV SVQLEMKALW 

       130        140        150        160        170        180 
DEFNQLGTEM IVTKAGRRMF PTFQVKLFGM DPMADYMLLM DFVPVDDKRY RYAFHSSSWL 

       190        200        210        220        230        240 
VAGKADPATP GRVHYHPDSP AKGAQWMKQI VSFDKLKLTN NLLDDNGHII LNSMHRYQPR 

       250        260        270        280        290        300 
FHVVYVDPRK DSEKYAEENF KTFVFEETRF TAVTAYQNHR ITQLKIASNP FAKGFRDCDP 

       310        320        330        340        350        360 
EDWPRNHRPG ALPLMSAFAR SRNPVASPTQ PSGTEKGGHV LKDKEVKAET SRNTPEREVE 

       370        380        390 
LLRDAGGCVN LGLPCPAECQ PFNTQGLVAG RTAGDRLC 

« Hide

Isoform B [UniParc].

Checksum: DC6B41E913C8BB25
Show »

37240,353
Isoform C (TBX1C) [UniParc].

Checksum: FB0C150FEA6155FC
Show »

49552,666

References

« Hide 'large scale' references
[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: 9268629] [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]"Role of TBX1 in human del22q11.2 syndrome."
Yagi H., Furutani Y., Hamada H., Sasaki T., Asakawa S., Minoshima S., Ichida F., Joo K., Kimura M., Imamura S., Kamatani N., Momma K., Takao A., Nakazawa M., Shimizu N., Matsuoka R.
Lancet 362:1366-1373(2003) [PubMed: 14585638] [Abstract]
Cited for: VARIANT CTMH/VCFS TYR-148, VARIANT DGS SER-310.
[4]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed: 16959974] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] GLU-337.
[5]"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: 17273972] [Abstract]
Cited for: VARIANT VCFS GLN-194.
+Additional computationally mapped references.

Cross-references

Sequence databases

AF012130 mRNA. Translation: AAB94018.1.
AF012131 mRNA. Translation: AAB94019.1.
AF373867 mRNA. Translation: AAK58955.1.
RefSeqNP_005983.1.
NP_542377.1.
NP_542378.1.
UniGeneHs.173984

3D structure databases

HSSPHSSP built from PDB template 1H6F based on UniProtKB O15119.
ModBaseSearch...

PTM databases

PhosphoSiteO43435.

Genome annotation databases

EnsemblENSG00000184058. Homo sapiens. [Contig view]
GeneID6899.
KEGGhsa:6899.

Organism-specific databases

H-InvDBHIX0041117.
HGNCHGNC:11592. TBX1.
MIM188400. phenotype.
192430. phenotype.
217095. phenotype.
602054. gene.
Orphanet2445. Conotruncal heart malformations.
3426. Double outlet right ventricle.
2351. Kousseff syndrome.
567. Monosomy 22q11.
PharmGKBPA36355.
GenAtlasSearch...
GeneCardsSearch...

Phylogenomic databases

HOVERGENO43435.

Gene expression databases

ArrayExpressO43435.
CleanExHS_TBX1.
GermOnlineENSG00000184058. Homo sapiens.

Family and domain databases

InterProIPR001699. TF_T-box.
[Graphical view]
Gene3DG3DSA:2.60.40.820. TF_T-box. 1 hit.
PANTHERPTHR11267. TF_T-box. 1 hit.
PfamPF00907. T-box. 1 hit.
[Graphical view]
PRINTSPR00937. TBOX.
SMARTSM00425. TBOX. 1 hit.
[Graphical view]
PROSITEPS01283. TBOX_1. 1 hit.
PS01264. TBOX_2. 1 hit.
PS50252. TBOX_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio26967.
SOURCESearch...

Entry information

Entry nameTBX1_HUMAN
AccessionPrimary (citable) accession number: O43435
Secondary accession number(s): O43436, Q96RJ2
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: June 1, 1998
Last modified: November 25, 2008
This is version 75 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

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

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

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents