HUMAN:TBX3

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	TBX3
Protein Name(s)	T-box transcription factor TBX3 T-box protein 3
External Links
UniProt	O15119
EMBL	AF170708 AF002228 AF140240 AF216750 BC025258
CCDS	CCDS9175.1 CCDS9176.1
RefSeq	NP_005987.3 NP_057653.3
UniGene	Hs.744016
PDB	1H6F
PDBsum	1H6F
ProteinModelPortal	O15119
SMR	O15119
BioGrid	112788
IntAct	O15119
MINT	MINT-7970169
STRING	9606.ENSP00000257566
PhosphoSite	O15119
MaxQB	O15119
PaxDb	O15119
PRIDE	O15119
DNASU	6926
Ensembl	ENST00000257566 ENST00000349155
GeneID	6926
KEGG	hsa:6926
UCSC	uc001tvt.1 uc001tvu.1
CTD	6926
GeneCards	GC12M115108
HGNC	HGNC:11602
HPA	HPA005799
MIM	181450 601621
neXtProt	NX_O15119
Orphanet	3138
PharmGKB	PA36365
eggNOG	NOG240293
GeneTree	ENSGT00760000118897
HOGENOM	HOG000038046
HOVERGEN	HBG000412
InParanoid	O15119
KO	K10177
OMA	PSQFAMG
OrthoDB	EOG7W9RV1
PhylomeDB	O15119
TreeFam	TF106341
ChiTaRS	TBX3
EvolutionaryTrace	O15119
GeneWiki	TBX3
GenomeRNAi	6926
NextBio	27099
PRO	PR:O15119
Proteomes	UP000005640
Bgee	O15119
CleanEx	HS_TBX3
ExpressionAtlas	O15119
Genevestigator	O15119
GO	GO:0005634 GO:0001102 GO:0001085 GO:0043565 GO:0003700 GO:0008595 GO:0003167 GO:0001568 GO:0060444 GO:0060923 GO:0007569 GO:0090398 GO:0042733 GO:0035115 GO:0030540 GO:0046884 GO:0035136 GO:0001947 GO:0001701 GO:0021761 GO:0032275 GO:0030539 GO:0030879 GO:0060596 GO:0048332 GO:0043066 GO:0030857 GO:0045662 GO:0000122 GO:0045892 GO:0009887 GO:0003151 GO:0060021 GO:0045787 GO:0008284 GO:2000648 GO:0045893 GO:0006357 GO:0060931 GO:0001501 GO:0010159 GO:0019827 GO:0006351 GO:0060412
Gene3D	2.60.40.820
InterPro	IPR008967 IPR022582 IPR001699 IPR018186
PANTHER	PTHR11267
Pfam	PF00907 PF12598
PRINTS	PR00937
SMART	SM00425
SUPFAM	SSF49417
PROSITE	PS01283 PS01264 PS50252

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
enables	GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	GO_REF:0000113	ECO:0005556	multiple sequence alignment evidence used in manual assertion	UniProtKB:P70324 UniProtKB:Q7TST9	F		Seeded From UniProt	complete
enables	GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	PMID:19274049^[1]	ECO:0000303	author statement without traceable support used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	PMID:19274049^[1]	ECO:0000255	match to sequence model evidence used in manual assertion	InterPro:IPR001699 InterPro:IPR002070 InterPro:IPR008967	F		Seeded From UniProt	complete
enables	GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	PMID:11689487^[2]	ECO:0000314	direct assay evidence used in manual assertion		F	occurs_at:(SO:0001952)	Seeded From UniProt	complete
involved_in	GO:0000122	negative regulation of transcription by RNA polymerase II	PMID:11689487^[2]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0000978	RNA polymerase II proximal promoter sequence-specific DNA binding	PMID:11689487^[2]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0001102	RNA polymerase II activating transcription factor binding	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P70324	F		Seeded From UniProt	complete
enables	GO:0001085	RNA polymerase II transcription factor binding	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P70324	F		Seeded From UniProt	complete
involved_in	GO:0090398	cellular senescence	PMID:22002537^[3]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0048332	mesoderm morphogenesis	PMID:9207801^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0046884	follicle-stimulating hormone secretion	PMID:12116211^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0045892	negative regulation of transcription, DNA-templated	PMID:11689487^[2]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0045892	negative regulation of transcription, DNA-templated	PMID:10468588^[6]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0045787	positive regulation of cell cycle	PMID:12032820^[7]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0045662	negative regulation of myoblast differentiation	PMID:12032820^[7]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0043565	sequence-specific DNA binding	PMID:11689487^[2]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0043066	negative regulation of apoptotic process	PMID:12032820^[7]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0042733	embryonic digit morphogenesis	PMID:12116211^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0042733	embryonic digit morphogenesis	PMID:9207801^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0035115	embryonic forelimb morphogenesis	PMID:12116211^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0032275	luteinizing hormone secretion	PMID:12116211^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0030879	mammary gland development	PMID:12116211^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0030540	female genitalia development	PMID:12116211^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0030539	male genitalia development	PMID:12116211^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0008595	anterior/posterior axis specification, embryo	PMID:9207801^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0008284	positive regulation of cell population proliferation	PMID:11689487^[2]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0008284	positive regulation of cell population proliferation	PMID:12032820^[7]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0008284	positive regulation of cell population proliferation	PMID:11748239^[8]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0007569	cell aging	PMID:11689487^[2]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0007569	cell aging	PMID:11748239^[8]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	PMID:11689487^[2]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0001501	skeletal system development	PMID:9207801^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0035136	forelimb morphogenesis	PMID:9207801^[4]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0009887	animal organ morphogenesis	PMID:9207801^[4]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:2000648	positive regulation of stem cell proliferation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70324 ensembl:ENSMUSP00000018748	P		Seeded From UniProt	complete
involved_in	GO:0060931	sinoatrial node cell development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70324 ensembl:ENSMUSP00000018748	P		Seeded From UniProt	complete
involved_in	GO:0060923	cardiac muscle cell fate commitment	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70324 ensembl:ENSMUSP00000018748	P		Seeded From UniProt	complete
involved_in	GO:0060596	mammary placode formation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70324 ensembl:ENSMUSP00000018748	P		Seeded From UniProt	complete
involved_in	GO:0060444	branching involved in mammary gland duct morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70324 ensembl:ENSMUSP00000018748	P		Seeded From UniProt	complete
involved_in	GO:0060412	ventricular septum morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70324 ensembl:ENSMUSP00000018748	P		Seeded From UniProt	complete
involved_in	GO:0060021	roof of mouth development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70324 ensembl:ENSMUSP00000018748	P		Seeded From UniProt	complete
involved_in	GO:0055007	cardiac muscle cell differentiation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70324 ensembl:ENSMUSP00000018748	P		Seeded From UniProt	complete
involved_in	GO:0045893	positive regulation of transcription, DNA-templated	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70324 ensembl:ENSMUSP00000018748	P		Seeded From UniProt	complete
involved_in	GO:0045892	negative regulation of transcription, DNA-templated	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70324 ensembl:ENSMUSP00000018748	P		Seeded From UniProt	complete
involved_in	GO:0042733	embryonic digit morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70324 ensembl:ENSMUSP00000018748	P		Seeded From UniProt	complete
involved_in	GO:0042127	regulation of cell population proliferation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70324 ensembl:ENSMUSP00000018748	P		Seeded From UniProt	complete
involved_in	GO:0035116	embryonic hindlimb morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70324 ensembl:ENSMUSP00000018748	P		Seeded From UniProt	complete
involved_in	GO:0035108	limb morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70324 ensembl:ENSMUSP00000018748	P		Seeded From UniProt	complete
involved_in	GO:0035050	embryonic heart tube development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70324 ensembl:ENSMUSP00000018748	P		Seeded From UniProt	complete
involved_in	GO:0030879	mammary gland development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70324 ensembl:ENSMUSP00000018748	P		Seeded From UniProt	complete
involved_in	GO:0030857	negative regulation of epithelial cell differentiation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70324 ensembl:ENSMUSP00000018748	P		Seeded From UniProt	complete
involved_in	GO:0021761	limbic system development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70324 ensembl:ENSMUSP00000018748	P		Seeded From UniProt	complete
involved_in	GO:0019827	stem cell population maintenance	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70324 ensembl:ENSMUSP00000018748	P		Seeded From UniProt	complete
involved_in	GO:0010159	specification of animal organ position	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70324 ensembl:ENSMUSP00000018748	P		Seeded From UniProt	complete
involved_in	GO:0007569	cell aging	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70324 ensembl:ENSMUSP00000018748	P		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70324 ensembl:ENSMUSP00000018748	C		Seeded From UniProt	complete
enables	GO:0003700	DNA-binding transcription factor activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70324 ensembl:ENSMUSP00000018748	F		Seeded From UniProt	complete
involved_in	GO:0003167	atrioventricular bundle cell differentiation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70324 ensembl:ENSMUSP00000018748	P		Seeded From UniProt	complete
involved_in	GO:0003151	outflow tract morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70324 ensembl:ENSMUSP00000018748	P		Seeded From UniProt	complete
involved_in	GO:0003007	heart morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70324 ensembl:ENSMUSP00000018748	P		Seeded From UniProt	complete
involved_in	GO:0001947	heart looping	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70324 ensembl:ENSMUSP00000018748	P		Seeded From UniProt	complete
involved_in	GO:0001701	in utero embryonic development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70324 ensembl:ENSMUSP00000018748	P		Seeded From UniProt	complete
involved_in	GO:0001568	blood vessel development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70324 ensembl:ENSMUSP00000018748	P		Seeded From UniProt	complete
enables	GO:0001102	RNA polymerase II activating transcription factor binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70324 ensembl:ENSMUSP00000018748	F		Seeded From UniProt	complete
enables	GO:0001085	RNA polymerase II transcription factor binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70324 ensembl:ENSMUSP00000018748	F		Seeded From UniProt	complete
involved_in	GO:0043066	negative regulation of apoptotic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q7TST9 ensembl:ENSRNOP00000011552	P		Seeded From UniProt	complete
involved_in	GO:0000122	negative regulation of transcription by RNA polymerase II	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q7TST9 ensembl:ENSRNOP00000011552	P		Seeded From UniProt	complete
enables	GO:0003700	DNA-binding transcription factor activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001699 InterPro:IPR008967 InterPro:IPR018186 InterPro:IPR036960	F		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001699 InterPro:IPR018186 InterPro:IPR036960	C		Seeded From UniProt	complete
involved_in	GO:0006355	regulation of transcription, DNA-templated	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001699 InterPro:IPR008967 InterPro:IPR018186 InterPro:IPR036960	P		Seeded From UniProt	complete
involved_in	GO:0006357	regulation of transcription by RNA polymerase II	PMID:9207801^[4]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0003677	DNA binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0238	F		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0539 UniProtKB-SubCell:SL-0191	C		Seeded From UniProt	complete
involved_in	GO:0007275	multicellular organism development	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0217	P		Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 Vaquerizas, JM et al. (2009) A census of human transcription factors: function, expression and evolution. Nat. Rev. Genet. 10 252-63 PubMed GONUTS page
↑ ^2.0 ^2.1 ^2.2 ^2.3 ^2.4 ^2.5 ^2.6 ^2.7 Carlson, H et al. (2001) A dominant repression domain in Tbx3 mediates transcriptional repression and cell immortalization: relevance to mutations in Tbx3 that cause ulnar-mammary syndrome. Hum. Mol. Genet. 10 2403-13 PubMed GONUTS page
↑ Martin, N et al. (2012) Physical and functional interaction between PML and TBX2 in the establishment of cellular senescence. EMBO J. 31 95-109 PubMed GONUTS page
↑ ^4.0 ^4.1 ^4.2 ^4.3 ^4.4 ^4.5 ^4.6 Bamshad, M et al. (1997) Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. Nat. Genet. 16 311-5 PubMed GONUTS page
↑ ^5.0 ^5.1 ^5.2 ^5.3 ^5.4 ^5.5 ^5.6 Sasaki, G et al. (2002) Novel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome: implication for impaired sex development. Am. J. Med. Genet. 110 365-9 PubMed GONUTS page
↑ He, Ml et al. (1999) Transcription repression by Xenopus ET and its human ortholog TBX3, a gene involved in ulnar-mammary syndrome. Proc. Natl. Acad. Sci. U.S.A. 96 10212-7 PubMed GONUTS page
↑ ^7.0 ^7.1 ^7.2 ^7.3 Carlson, H et al. (2002) Tbx3 impinges on the p53 pathway to suppress apoptosis, facilitate cell transformation and block myogenic differentiation. Oncogene 21 3827-35 PubMed GONUTS page
↑ ^8.0 ^8.1 Brummelkamp, TR et al. (2002) TBX-3, the gene mutated in Ulnar-Mammary Syndrome, is a negative regulator of p19ARF and inhibits senescence. J. Biol. Chem. 277 6567-72 PubMed GONUTS page

[PMID:19274049-1] 1.0 ^1.1 Vaquerizas, JM et al. (2009) A census of human transcription factors: function, expression and evolution. Nat. Rev. Genet. 10 252-63 PubMed GONUTS page

[PMID:11689487-2] 2.0 ^2.1 ^2.2 ^2.3 ^2.4 ^2.5 ^2.6 ^2.7 Carlson, H et al. (2001) A dominant repression domain in Tbx3 mediates transcriptional repression and cell immortalization: relevance to mutations in Tbx3 that cause ulnar-mammary syndrome. Hum. Mol. Genet. 10 2403-13 PubMed GONUTS page

[PMID:22002537-3] Martin, N et al. (2012) Physical and functional interaction between PML and TBX2 in the establishment of cellular senescence. EMBO J. 31 95-109 PubMed GONUTS page

[PMID:9207801-4] 4.0 ^4.1 ^4.2 ^4.3 ^4.4 ^4.5 ^4.6 Bamshad, M et al. (1997) Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. Nat. Genet. 16 311-5 PubMed GONUTS page

[PMID:12116211-5] 5.0 ^5.1 ^5.2 ^5.3 ^5.4 ^5.5 ^5.6 Sasaki, G et al. (2002) Novel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome: implication for impaired sex development. Am. J. Med. Genet. 110 365-9 PubMed GONUTS page

[PMID:10468588-6] He, Ml et al. (1999) Transcription repression by Xenopus ET and its human ortholog TBX3, a gene involved in ulnar-mammary syndrome. Proc. Natl. Acad. Sci. U.S.A. 96 10212-7 PubMed GONUTS page

[PMID:12032820-7] 7.0 ^7.1 ^7.2 ^7.3 Carlson, H et al. (2002) Tbx3 impinges on the p53 pathway to suppress apoptosis, facilitate cell transformation and block myogenic differentiation. Oncogene 21 3827-35 PubMed GONUTS page

[PMID:11748239-8] 8.0 ^8.1 Brummelkamp, TR et al. (2002) TBX-3, the gene mutated in Ulnar-Mammary Syndrome, is a negative regulator of p19ARF and inhibits senescence. J. Biol. Chem. 277 6567-72 PubMed GONUTS page

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HUMAN:TBX3

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