Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q9UMR3 (TBX20_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 124. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
T-box transcription factor TBX20

Short name=T-box protein 20
Gene names
Name:TBX20
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length447 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Acts as a transcriptional activator and repressor required for cardiac development and may have key roles in the maintenance of functional and structural phenotypes in adult heart By similarity.

Subcellular location

Nucleus Potential.

Involvement in disease

Atrial septal defect 4 (ASD4) [MIM:611363]: A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Patients show other heart abnormalities including defects in septation, chamber growth and valvulogenesis. The disease is not associated with defects in the cardiac conduction system or with non-cardiac abnormalities.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence similarities

Contains 1 T-box DNA-binding domain.

Sequence caution

The sequence AAD21787.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence AAI20946.1 differs from that shown. Reason: Frameshift at position 294.

The sequence AAI20946.1 differs from that shown. Reason: Intron retention.

The sequence AAI20947.1 differs from that shown. Reason: Intron retention.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   DiseaseAtrial septal defect
Cardiomyopathy
Disease mutation
   LigandDNA-binding
   Molecular functionDevelopmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processaortic valve morphogenesis

Inferred from mutant phenotype PubMed 18275040PubMed 18834961. Source: BHF-UCL

atrial septum morphogenesis

Inferred from mutant phenotype Ref.7PubMed 18834961PubMed 19762328. Source: BHF-UCL

blood circulation

Inferred from electronic annotation. Source: Ensembl

cardiac chamber formation

Inferred from sequence or structural similarity. Source: BHF-UCL

cardiac muscle tissue morphogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

cardiac right ventricle morphogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

cardiac septum development

Inferred from sequence or structural similarity. Source: BHF-UCL

cell proliferation

Inferred from electronic annotation. Source: Ensembl

dorsal/ventral pattern formation

Inferred from sequence or structural similarity. Source: BHF-UCL

embryonic heart tube elongation

Inferred from electronic annotation. Source: Ensembl

embryonic heart tube morphogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

endocardial cushion formation

Inferred from sequence or structural similarity. Source: BHF-UCL

endocardial cushion morphogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

endoderm formation

Inferred from sequence or structural similarity. Source: BHF-UCL

foramen ovale closure

Inferred from mutant phenotype PubMed 19762328. Source: BHF-UCL

heart looping

Inferred from sequence or structural similarity. Source: BHF-UCL

lateral mesoderm formation

Inferred from sequence or structural similarity. Source: BHF-UCL

muscle contraction

Inferred from electronic annotation. Source: Ensembl

negative regulation of SMAD protein complex assembly

Inferred from electronic annotation. Source: Ensembl

negative regulation of transcription from RNA polymerase II promoter

Inferred from sequence or structural similarity. Source: BHF-UCL

negative regulation of transcription, DNA-templated

Inferred from sequence or structural similarity. Source: BHF-UCL

neuron migration

Inferred from electronic annotation. Source: Ensembl

outflow tract septum morphogenesis

Inferred from mutant phenotype PubMed 18275040PubMed 18834961. Source: BHF-UCL

patterning of blood vessels

Inferred from electronic annotation. Source: Ensembl

pericardium morphogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

positive regulation of cardiac muscle cell proliferation

Inferred from sequence or structural similarity. Source: BHF-UCL

positive regulation of transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 19762328. Source: GOC

pulmonary valve formation

Inferred from sequence or structural similarity. Source: BHF-UCL

pulmonary vein morphogenesis

Inferred from mutant phenotype PubMed 18834961. Source: BHF-UCL

tricuspid valve development

Inferred from sequence or structural similarity. Source: BHF-UCL

visceral motor neuron differentiation

Inferred from sequence or structural similarity. Source: BHF-UCL

   Cellular_componentcytoplasm

Inferred from sequence or structural similarity. Source: BHF-UCL

nucleus

Inferred from sequence or structural similarity. Source: BHF-UCL

   Molecular_functionRNA polymerase II activating transcription factor binding

Inferred from sequence or structural similarity. Source: BHF-UCL

RNA polymerase II regulatory region sequence-specific DNA binding

Inferred from direct assay PubMed 19762328. Source: BHF-UCL

RNA polymerase II transcription coactivator activity

Inferred from direct assay PubMed 19762328. Source: BHF-UCL

RNA polymerase II transcription factor binding

Inferred from sequence or structural similarity. Source: BHF-UCL

sequence-specific DNA binding transcription factor activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 447447T-box transcription factor TBX20
PRO_0000184451

Regions

DNA binding109 – 288180T-box
Compositional bias71 – 799Poly-Ser

Natural variations

Natural variant1521I → M in ASD4. Ref.7
VAR_036995

Sequences

Sequence LengthMass (Da)Tools
Q9UMR3 [UniParc].

Last modified May 31, 2011. Version 4.
Checksum: A6B43488373D81D1

FASTA44749,232
        10         20         30         40         50         60 
MEFTASPKPQ LSSRANAFSI AALMSSGGSK EKEATENTIK PLEQFVEKSS CAQPLGELTS 

        70         80         90        100        110        120 
LDAHGEFGGG SGSSPSSSSL CTEPLIPTTP IIPSEEMAKI ACSLETKELW DKFHELGTEM 

       130        140        150        160        170        180 
IITKSGRRMF PTIRVSFSGV DPEAKYIVLM DIVPVDNKRY RYAYHRSSWL VAGKADPPLP 

       190        200        210        220        230        240 
ARLYVHPDSP FTGEQLLKQM VSFEKVKLTN NELDQHGHII LNSMHKYQPR VHIIKKKDHT 

       250        260        270        280        290        300 
ASLLNLKSEE FRTFIFPETV FTAVTAYQNQ LITKLKIDSN PFAKGFRDSS RLTDIERESV 

       310        320        330        340        350        360 
ESLIQKHSYA RSPIRTYGGE EDVLGDESQT TPNRGSAFTT SDNLSLSSWV SSSSSFPGFQ 

       370        380        390        400        410        420 
HPQSLTALGT STASIATPIP HPIQGSLPPY SRLGMPLTPS AIASSMQGSG PTFPSFHMPR 

       430        440 
YHHYFQQGPY AAIQGLRHSS AVMTPFV 

« Hide

References

« Hide 'large scale' references
[1]"Identification of a new human TBX20 splice variant."
Toenjes M., Sperling S.
Submitted (SEP-2006) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]Rieder M.J., Bertucci C., Stanaway I.B., Johnson E.J., Swanson J.E., Siegel D.L., da Ponte S.H., Igartua C., Patterson K., Nickerson D.A.
Submitted (MAR-2010) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]"The DNA sequence of human chromosome 7."
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. expand/collapse author list , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"Human chromosome 7: DNA sequence and biology."
Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S. expand/collapse author list , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[6]"Characterization of the human TBX20 gene, a new member of the T-box gene family closely related to the Drosophila H15 gene."
Meins M., Henderson D.J., Bhattacharya S.S., Sowden J.C.
Genomics 67:317-332(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 97-296.
Tissue: Fetal eye.
[7]"Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy."
Kirk E.P., Sunde M., Costa M.W., Rankin S.A., Wolstein O., Castro M.L., Butler T.L., Hyun C., Guo G., Otway R., Mackay J.P., Waddell L.B., Cole A.D., Hayward C., Keogh A., Macdonald P., Griffiths L., Fatkin D. expand/collapse author list , Sholler G.F., Zorn A.M., Feneley M.P., Winlaw D.S., Harvey R.P.
Am. J. Hum. Genet. 81:280-291(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ASD4 MET-152.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
DQ986374 mRNA. Translation: ABJ15760.1.
HM015599 Genomic DNA. Translation: ADL14520.1.
AC005826 Genomic DNA. No translation available.
AC009531 Genomic DNA. No translation available.
AC006379 Genomic DNA. Translation: AAD21787.1. Sequence problems.
CH236951 Genomic DNA. Translation: EAL23971.1.
BC120945 mRNA. Translation: AAI20946.1. Sequence problems.
BC120946 mRNA. Translation: AAI20947.1. Sequence problems.
AJ237589 mRNA. Translation: CAB51916.1.
CCDSCCDS43568.1.
RefSeqNP_001071121.1. NM_001077653.2.
NP_001159692.1. NM_001166220.1.
UniGeneHs.404167.

3D structure databases

ProteinModelPortalQ9UMR3.
SMRQ9UMR3. Positions 100-288.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121349. 2 interactions.
STRING9606.ENSP00000386170.

Polymorphism databases

DMDM334302934.

Proteomic databases

PaxDbQ9UMR3.
PRIDEQ9UMR3.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000408931; ENSP00000386170; ENSG00000164532.
GeneID57057.
KEGGhsa:57057.
UCSCuc011kas.2. human.

Organism-specific databases

CTD57057.
GeneCardsGC07M035237.
HGNCHGNC:11598. TBX20.
HPAHPA008192.
MIM606061. gene.
611363. phenotype.
neXtProtNX_Q9UMR3.
Orphanet99103. Atrial septal defect, ostium secundum type.
PharmGKBPA36361.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG272513.
HOGENOMHOG000286000.
HOVERGENHBG067710.
InParanoidQ9UMR3.
KOK10185.
OMARHSSTVM.
OrthoDBEOG7GN2PM.
PhylomeDBQ9UMR3.
TreeFamTF106341.

Gene expression databases

ArrayExpressQ9UMR3.
BgeeQ9UMR3.
CleanExHS_TBX20.
GenevestigatorQ9UMR3.

Family and domain databases

Gene3D2.60.40.820. 1 hit.
InterProIPR008967. p53-like_TF_DNA-bd.
IPR001699. TF_T-box.
IPR018186. TF_T-box_CS.
[Graphical view]
PANTHERPTHR11267. PTHR11267. 1 hit.
PfamPF00907. T-box. 1 hit.
[Graphical view]
PRINTSPR00937. TBOX.
SMARTSM00425. TBOX. 1 hit.
[Graphical view]
SUPFAMSSF49417. SSF49417. 1 hit.
PROSITEPS01283. TBOX_1. 1 hit.
PS01264. TBOX_2. 1 hit.
PS50252. TBOX_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi57057.
NextBio62840.
PROQ9UMR3.
SOURCESearch...

Entry information

Entry nameTBX20_HUMAN
AccessionPrimary (citable) accession number: Q9UMR3
Secondary accession number(s): A4D1Y6 expand/collapse secondary AC list , Q000T4, Q0IJ70, Q0VAS1, Q9Y2N5
Entry history
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 31, 2011
Last modified: July 9, 2014
This is version 124 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM