P57082 (TBX4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
T-box transcription factor TBX4
Short name=T-box protein 4

Gene names

Name:

TBX4

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	545 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation.
Subcellular location	Nucleus Potential.
Involvement in disease	Small patella syndrome (SPS) [MIM:147891]: Autosomal dominant skeletal dysplasia characterized by patellar aplasia or hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification of the ischia and inferior pubic rami. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3
Sequence similarities	Contains 1 T-box DNA-binding domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Ligand	DNA-binding
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	angiogenesis Inferred from electronic annotation. Source: Compara embryonic limb morphogenesis Inferred from electronic annotation. Source: Compara limb morphogenesis Inferred from mutant phenotype Ref.3. Source: UniProtKB lung development Inferred from electronic annotation. Source: Compara morphogenesis of an epithelium Inferred from electronic annotation. Source: Compara skeletal system morphogenesis Inferred from mutant phenotype Ref.3. Source: UniProtKB transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	DNA binding Non-traceable author statement Ref.3. Source: UniProtKB sequence-specific DNA binding transcription factor activity Traceable author statement Ref.1. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 545	545	T-box transcription factor TBX4		PRO_0000184433
Regions
	DNA binding	71 – 251	181	T-box
Natural variations
	Natural variant	6	1	G → A. Ref.2 Ref.3 Corresponds to variant rs3744448 [ dbSNP | Ensembl ].		VAR_020251
	Natural variant	35	1	A → V. Ref.3		VAR_026772
	Natural variant	248	1	G → V in SPS. Ref.3 Corresponds to variant rs28938474 [ dbSNP | Ensembl ].		VAR_026745
	Natural variant	314	1	A → V. Corresponds to variant rs3744438 [ dbSNP | Ensembl ].		VAR_021983
	Natural variant	531	1	Q → R in SPS. Ref.3 Corresponds to variant rs28936696 [ dbSNP | Ensembl ].		VAR_026746

Sequences

	Sequence		Length	Mass (Da)
	P57082 [UniParc]. Last modified August 16, 2004. Version 2. Checksum: B822FD05EE98C8CD	FASTA	545	60,204
	10 20 30 40 50 60 MLQDKGLSES EEAFRAPGPA LGEASAANAP EPALAAPGLS GAALGSPPGP GADVVAAAAA 70 80 90 100 110 120 EQTIENIKVG LHEKELWKKF HEAGTEMIIT KAGRRMFPSY KVKVTGMNPK TKYILLIDIV 130 140 150 160 170 180 PADDHRYKFC DNKWMVAGKA EPAMPGRLYV HPDSPATGAH WMRQLVSFQK LKLTNNHLDP 190 200 210 220 230 240 FGHIILNSMH KYQPRLHIVK ADENNAFGSK NTAFCTHVFP ETSFISVTSY QNHKITQLKI 250 260 270 280 290 300 ENNPFAKGFR GSDDSDLRVA RLQSKEYPVI SKSIMRQRLI SPQLSATPDV GPLLGTHQAL 310 320 330 340 350 360 QHYQHENGAH SQLAEPQDLP LSTFPTQRDS SLFYHCLKRR DGTRHLDLPC KRSYLEAPSS 370 380 390 400 410 420 VGEDHYFRSP PPYDQQMLSP SYCSEVTPRE ACMYSGSGPE IAGVSGVDDL PPPPLSCNMW 430 440 450 460 470 480 TSVSPYTSYS VQTMETVPYQ PFPTHFTATT MMPRLPTLSA QSSQPPGNAH FSVYNQLSQS 490 500 510 520 530 540 QVRERGPSAS FPRERGLPQG CERKPPSPHL NAANEFLYSQ TFSLSRESSL QYHSGMGTVE NWTDG

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Virtual cloning and physical mapping of a human T-box gene, TBX4." Yi C.H., Russ A., Brook J.D. Genomics 67:92-95(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"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], VARIANT ALA-6.
[3]	"Mutations in the human TBX4 gene cause small patella syndrome." Bongers E.M.H.F., Duijf P.H.G., van Beersum S.E.M., Schoots J., van Kampen A., Burckhardt A., Hamel B.C.J., Losan F., Hoefsloot L.H., Yntema H.G., Knoers N.V.A.M., van Bokhoven H. Am. J. Hum. Genet. 74:1239-1248(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS SPS VAL-248 AND ARG-531, VARIANTS ALA-6 AND VAL-35.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF188703 mRNA. Translation: AAF68854.1. BC136403 mRNA. Translation: AAI36404.1.
IPI	IPI00941007.
RefSeq	NP_060958.2. NM_018488.2.
UniGene	Hs.143907.
3D structure databases
ProteinModelPortal	P57082.
ModBase	Search...
Protein-protein interaction databases
MINT	MINT-1199737.
STRING	9606.ENSP00000240335.
PTM databases
PhosphoSite	P57082.
Polymorphism databases
DMDM	51338786.
Proteomic databases
PaxDb	P57082.
PRIDE	P57082.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000240335; ENSP00000240335; ENSG00000121075.
GeneID	9496.
KEGG	hsa:9496.
UCSC	uc002izi.3. human.
Organism-specific databases
CTD	9496.
GeneCards	GC17P059533.
HGNC	HGNC:11603. TBX4.
HPA	CAB032413.
MIM	147891. phenotype. 601719. gene.
neXtProt	NX_P57082.
Orphanet	261279. 17q23.1q23.2 microdeletion syndrome. 1509. Coxo-podo-patellar syndrome. 238578. Familial clubfoot due to 17q23.1q23.2 microduplication.
PharmGKB	PA36366.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG320009.
HOGENOM	HOG000286001.
HOVERGEN	HBG007310.
InParanoid	P57082.
KO	K10178.
OrthoDB	EOG4S4PFX.
PhylomeDB	P57082.
Gene expression databases
ArrayExpress	P57082.
Bgee	P57082.
CleanEx	HS_TBX4.
Genevestigator	P57082.
GermOnline	ENSG00000121075. 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	9496.
NextBio	35576.
SOURCE	Search...

Entry information

Entry name

TBX4_HUMAN

Accession

Primary (citable) accession number: P57082
Secondary accession number(s): B2RMT1

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 1, 2000
Last sequence update:	August 16, 2004
Last modified:	May 1, 2013
This is version 111 of the entry and version 2 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.