T-box transcription factor TBX1 - Homo sapiens (Human)

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Reviewed, UniProtKB/Swiss-Prot O43435 (TBX1_HUMAN)

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

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

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Names and origin

Protein names

Recommended name:
    T-box transcription factor TBX1
      Short name=T-box protein 1
Alternative name(s):
    Testis-specific T-box protein

Gene names

Name:

TBX1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length	398 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

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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.

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Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation
Ligand	DNA-binding
Gene Ontology (GO)
Biological process	embryonic viscerocranium morphogenesis Ref.3 Inferred from mutant phenotype. Source: UniProtKB heart development Ref.1 Ref.3 Inferred from mutant phenotype. Source: UniProtKB parathyroid gland development Ref.3 Inferred from mutant phenotype. Source: UniProtKB pharyngeal system development Ref.3 Inferred from mutant phenotype. Source: UniProtKB regulation of transcription from RNA polymerase II promoter Ref.1 Non-traceable author statement. Source: UniProtKB soft palate development Ref.3 Inferred from mutant phenotype. Source: UniProtKB thymus development Ref.3 Inferred from mutant phenotype. Source: UniProtKB
Cellular component	nucleus Inferred from direct assay. Source: UniProtKB
Molecular function	RNA polymerase II transcription factor activity Ref.1 Non-traceable author statement. Source: UniProtKB protein homodimerization activity Inferred from direct assay. Source: UniProtKB sequence-specific DNA binding Inferred from direct assay. Source: UniProtKB transcription factor activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

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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

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 398

398

T-box transcription factor TBX1

PRO_0000184423

Regions

DNA binding

119 – 297

179

T-box

Compositional bias

43 – 48

Poly-Pro

Compositional bias

54 – 57

Poly-Ala

Compositional bias

61 – 67

Poly-Pro

Compositional bias

94 – 99

Poly-Ala

Natural variations

Alternative sequence

337 – 398

GGHVL…GDRLC → DAAEARREFQRDAGGPAVLG DPAHPPQLLARVLSPSLPGA GGAGGLVPLPGAPGGRPSPP NPELRLEAPGASEPLHHHPY KYPAAAYDHYLGAKSRPAPY PLPGLRGHGYHPHAHPHHHH HPVSPAAAAAAAAAAAAAAA NMYSSAGAAPPGSYDYCPR in isoform C.

VSP_007423

Alternative sequence

338 – 398

GHVLK…GDRLC → LVTEGSGLQPGLLDVLLKPP SKKSESLRPPHCKDT in isoform B.

VSP_006383

Natural variant

148

F → Y in CTHM and VCFS.

VAR_035025

Natural variant

194

H → Q in VCFS.

VAR_035026

Natural variant

310

G → S in DGS. dbSNP rs41298838.

VAR_034545

Natural variant

337

G → E in a colorectal cancer sample; somatic mutation.

VAR_036065

Natural variant

350

T → M: dbSNP rs4819522.

VAR_024657

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Sequences

Sequence		Length	Mass (Da)
Isoform A [UniParc]. Last modified June 1, 1998. Version 1. Checksum: FAF0F3FA0CDC6176 Show »	FASTA	398	43,133
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 »		372	40,353
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 PSGTEKGLVT EGSGLQPGLL DVLLKPPSKK 370 SESLRPPHCK DT « Hide
Isoform C (TBX1C) [UniParc]. Checksum: FB0C150FEA6155FC Show »		495	52,666
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 PSGTEKDAAE ARREFQRDAG GPAVLGDPAH 370 380 390 400 410 420 PPQLLARVLS PSLPGAGGAG GLVPLPGAPG GRPSPPNPEL RLEAPGASEP LHHHPYKYPA 430 440 450 460 470 480 AAYDHYLGAK SRPAPYPLPG LRGHGYHPHA HPHHHHHPVS PAAAAAAAAA AAAAAANMYS 490 SAGAAPPGSY DYCPR « Hide

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References

	« Hide 'large scale' referencesShow '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. 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.

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Cross-references

Sequence databases
	AF012130 mRNA. Translation: AAB94018.1. AF012131 mRNA. Translation: AAB94019.1. AF373867 mRNA. Translation: AAK58955.1.
RefSeq	NP_005983.1. NP_542377.1. NP_542378.1.
UniGene	Hs.173984
3D structure databases
HSSP	HSSP built from PDB template 1H6F based on UniProtKB O15119.
ModBase	Search...
PTM databases
PhosphoSite	O43435.
Genome annotation databases
Ensembl	ENSG00000184058. Homo sapiens. [Contig view]
GeneID	6899.
KEGG	hsa:6899.
Organism-specific databases
H-InvDB	HIX0041117.
HGNC	HGNC:11592. TBX1.
MIM	188400. phenotype. 192430. phenotype. 217095. phenotype. 602054. gene.
Orphanet	2445. Conotruncal heart malformations. 3426. Double outlet right ventricle. 2351. Kousseff syndrome. 567. Monosomy 22q11.
PharmGKB	PA36355.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOVERGEN	O43435.
Gene expression databases
ArrayExpress	O43435.
CleanEx	HS_TBX1.
GermOnline	ENSG00000184058. Homo sapiens.
Family and domain databases
InterPro	IPR001699. TF_T-box. [Graphical view]
Gene3D	G3DSA:2.60.40.820. TF_T-box. 1 hit.
PANTHER	PTHR11267. TF_T-box. 1 hit.
Pfam	PF00907. T-box. 1 hit. [Graphical view]
PRINTS	PR00937. TBOX.
SMART	SM00425. TBOX. 1 hit. [Graphical view]
PROSITE	PS01283. TBOX_1. 1 hit. PS01264. TBOX_2. 1 hit. PS50252. TBOX_3. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	26967.
SOURCE	Search...

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Entry information

Entry name

TBX1_HUMAN

Accession

Primary (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 status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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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

Keywords

Gene Ontology (GO)

Alternative products

Sequence annotation (Features)

Molecule processing

Regions

Natural variations

Sequences

References

Cross-references

Sequence databases

3D structure databases

PTM databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Gene expression databases

Family and domain databases

Other Resources

Entry information

Relevant documents