Q9UL17 (TBX21_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
T-box transcription factor TBX21
Short name=T-box protein 21

Alternative name(s):
T-cell-specific T-box transcription factor T-bet
Transcription factor TBLYM

Gene names

Name:	TBX21
Synonyms:	TBET, TBLYM

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	535 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Transcription factor that controls the expression of the TH1 cytokine, interferon-gamma. Initiates TH1 lineage development from naive TH precursor cells both by activating TH1 genetic programs and by repressing the opposing TH2 programs.
Subcellular location	Nucleus.
Tissue specificity	T-cell specific.
Involvement in disease	Asthma, with nasal polyps and aspirin intolerance (ANPAI) [MIM:208550]: A condition consisting of asthma, aspirin sensitivity and nasal polyposis. Nasal polyposis is due to chronic inflammation of the paranasal sinus mucosa, leading to protrusion of edematous polyps into the nasal cavities. Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
Sequence similarities	Contains 1 T-box DNA-binding domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Disease	Asthma
Ligand	DNA-binding
Molecular function	Activator
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	T cell differentiation Inferred from electronic annotation. Source: Compara lymphocyte migration Inferred from direct assay PubMed 19805038. Source: UniProtKB multicellular organismal development Traceable author statement Ref.2. Source: UniProtKB positive regulation of isotype switching to IgG isotypes Inferred from electronic annotation. Source: Compara positive regulation of transcription, DNA-dependent Inferred from direct assay PubMed 19805038. Source: UniProtKB response to virus Inferred from expression pattern PubMed 20583921. Source: UniProtKB transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	neuronal cell body Inferred from electronic annotation. Source: Compara nucleus Non-traceable author statement. Source: UniProtKB
Molecular_function	sequence-specific DNA binding transcription factor activity Traceable author statement Ref.2. Source: UniProtKB transcription regulatory region DNA binding Inferred from direct assay PubMed 19805038. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 535	535	T-box transcription factor TBX21		PRO_0000184453
Regions
	DNA binding	141 – 326	186	T-box
Natural variations
	Natural variant	33	1	H → Q. Ref.4 Corresponds to variant rs2240017 [ dbSNP | Ensembl ].		VAR_020252
	Natural variant	339	1	I → V. Corresponds to variant rs12721471 [ dbSNP | Ensembl ].		VAR_029275

Sequences

	Sequence		Length	Mass (Da)
	Q9UL17 [UniParc]. Last modified May 1, 2000. Version 1. Checksum: 51F351335598CEF2	FASTA	535	58,328
	10 20 30 40 50 60 MGIVEPGCGD MLTGTEPMPG SDEGRAPGAD PQHRYFYPEP GAQDADERRG GGSLGSPYPG 70 80 90 100 110 120 GALVPAPPSR FLGAYAYPPR PQAAGFPGAG ESFPPPADAE GYQPGEGYAA PDPRAGLYPG 130 140 150 160 170 180 PREDYALPAG LEVSGKLRVA LNNHLLWSKF NQHQTEMIIT KQGRRMFPFL SFTVAGLEPT 190 200 210 220 230 240 SHYRMFVDVV LVDQHHWRYQ SGKWVQCGKA EGSMPGNRLY VHPDSPNTGA HWMRQEVSFG 250 260 270 280 290 300 KLKLTNNKGA SNNVTQMIVL QSLHKYQPRL HIVEVNDGEP EAACNASNTH IFTFQETQFI 310 320 330 340 350 360 AVTAYQNAEI TQLKIDNNPF AKGFRENFES MYTSVDTSIP SPPGPNCQFL GGDHYSPLLP 370 380 390 400 410 420 NQYPVPSRFY PDLPGQAKDV VPQAYWLGAP RDHSYEAEFR AVSMKPAFLP SAPGPTMSYY 430 440 450 460 470 480 RGQEVLAPGA GWPVAPQYPP KMGPASWFRP MRTLPMEPGP GGSEGRGPED QGPPLVWTEI 490 500 510 520 530 APIRPESSDS GLGEGDSKRR RVSPYPSSGD SSSPAGAPSP FDKEAEGQFY NYFPN

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning and characterization of a new member of T-box gene family." Yang S. Submitted (SEP-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"A novel transcription factor, T-bet, directs Th1 lineage commitment." Szabo S.J., Kim S.T., Costa G.L., Zhang X., Fathman C.G., Glimcher L.H. Cell 100:655-669(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[3]	"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]. Tissue: Testis.
[4]	"Functional promoter polymorphism in the TBX21 gene associated with aspirin-induced asthma." Akahoshi M., Obara K., Hirota T., Matsuda A., Hasegawa K., Takahashi N., Shimizu M., Nakashima K., Cheng L., Doi S., Fujiwara H., Miyatake A., Fujita K., Higashi N., Taniguchi M., Enomoto T., Mao X.-Q., Nakashima H. , Adra C.N., Nakamura Y., Tamari M., Shirakawa T. Hum. Genet. 117:16-26(2005) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO ASPIRIN-INDUCED ASTHMA, INVOLVEMENT IN SUSCEPTIBILITY TO ASTHMA AND NASAL POLYPS, VARIANT GLN-33.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF093098 mRNA. Translation: AAF00055.1. AF241243 mRNA. Translation: AAF61243.1. BC039739 mRNA. Translation: AAH39739.1.
IPI	IPI00007732.
RefSeq	NP_037483.1. NM_013351.1.
UniGene	Hs.272409.
3D structure databases
ProteinModelPortal	Q9UL17.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9UL17. 1 interaction.
STRING	9606.ENSP00000177694.
PTM databases
PhosphoSite	Q9UL17.
Polymorphism databases
DMDM	12230772.
Proteomic databases
PaxDb	Q9UL17.
PRIDE	Q9UL17.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000177694; ENSP00000177694; ENSG00000073861.
GeneID	30009.
KEGG	hsa:30009.
UCSC	uc002ilv.1. human.
Organism-specific databases
CTD	30009.
GeneCards	GC17P045810.
HGNC	HGNC:11599. TBX21.
HPA	CAB009524.
MIM	208550. phenotype. 604895. gene.
neXtProt	NX_Q9UL17.
PharmGKB	PA36362.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG254024.
HOGENOM	HOG000218633.
HOVERGEN	HBG000578.
InParanoid	Q9UL17.
KO	K10166.
OMA	MPASDEG.
OrthoDB	EOG47WNNQ.
Enzyme and pathway databases
Pathway_Interaction_DB	nfat_tfpathway. Calcineurin-regulated NFAT-dependent transcription in lymphocytes. il12_stat4pathway. IL12 signaling mediated by STAT4. il12_2pathway. IL12-mediated signaling events. il27pathway. IL27-mediated signaling events.
Gene expression databases
Bgee	Q9UL17.
CleanEx	HS_TBX21.
Genevestigator	Q9UL17.
GermOnline	ENSG00000073861. Homo sapiens.
Family and domain databases
Gene3D	2.60.40.820. 1 hit.
InterPro	IPR008967. p53-like_TF_DNA-bd. IPR001699. TF_T-box. IPR018186. TF_T-box_CS. [Graphical view]
PANTHER	PTHR11267. PTHR11267. 1 hit.
Pfam	PF00907. T-box. 1 hit. [Graphical view]
PRINTS	PR00937. TBOX.
SMART	SM00425. TBOX. 1 hit. [Graphical view]
SUPFAM	SSF49417. P53_like_DNA_bnd. 1 hit.
PROSITE	PS01283. TBOX_1. 1 hit. PS01264. TBOX_2. 1 hit. PS50252. TBOX_3. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	30009.
NextBio	52824.
SOURCE	Search...

Entry information

Entry name

TBX21_HUMAN

Accession

Primary (citable) accession number: Q9UL17

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 11, 2001
Last sequence update:	May 1, 2000
Last modified:	May 1, 2013
This is version 113 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.