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Protein

T-box transcription factor TBX4

Gene

TBX4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi71 – 251T-boxPROSITE-ProRule annotationAdd BLAST181

GO - Molecular functioni

  • DNA binding Source: UniProtKB
  • transcription factor activity, sequence-specific DNA binding Source: UniProtKB

GO - Biological processi

  • angiogenesis Source: Ensembl
  • embryonic limb morphogenesis Source: Ensembl
  • limb morphogenesis Source: UniProtKB
  • lung development Source: Ensembl
  • morphogenesis of an epithelium Source: Ensembl
  • multicellular organism development Source: UniProtKB
  • regulation of transcription, DNA-templated Source: UniProtKB
  • skeletal system morphogenesis Source: UniProtKB
  • transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000121075-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
T-box transcription factor TBX4
Short name:
T-box protein 4
Gene namesi
Name:TBX4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:11603. TBX4.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Ischiocoxopodopatellar syndrome (ICPPS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant bone disease characterized by patellar aplasia or hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification of the ischia and inferior pubic rami.
See also OMIM:147891
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_026745248G → V in ICPPS. 1 PublicationCorresponds to variant rs28938474dbSNPEnsembl.1
Natural variantiVAR_026746531Q → R in ICPPS. 1 PublicationCorresponds to variant rs28936696dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi9496.
MalaCardsiTBX4.
MIMi147891. phenotype.
OpenTargetsiENSG00000121075.
Orphaneti261279. 17q23.1q23.2 microdeletion syndrome.
1509. Coxopodopatellar syndrome.
238578. Familial clubfoot due to 17q23.1q23.2 microduplication.
275777. Heritable pulmonary arterial hypertension.
PharmGKBiPA36366.

Polymorphism and mutation databases

BioMutaiTBX4.
DMDMi51338786.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001844331 – 545T-box transcription factor TBX4Add BLAST545

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei507PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiP57082.
PeptideAtlasiP57082.
PRIDEiP57082.

PTM databases

iPTMnetiP57082.
PhosphoSitePlusiP57082.

Expressioni

Gene expression databases

BgeeiENSG00000121075.
CleanExiHS_TBX4.
ExpressionAtlasiP57082. baseline and differential.
GenevisibleiP57082. HS.

Organism-specific databases

HPAiCAB032413.

Interactioni

Protein-protein interaction databases

BioGridi114875. 3 interactors.
IntActiP57082. 1 interactor.
MINTiMINT-1199737.
STRINGi9606.ENSP00000240335.

Structurei

3D structure databases

ProteinModelPortaliP57082.
SMRiP57082.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Contains 1 T-box DNA-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG3585. Eukaryota.
ENOG410XSTS. LUCA.
GeneTreeiENSGT00760000118897.
HOGENOMiHOG000286001.
HOVERGENiHBG007310.
InParanoidiP57082.
KOiK10178.
OMAiCLKRRAD.
OrthoDBiEOG091G0I8R.
PhylomeDBiP57082.
TreeFamiTF106341.

Family and domain databases

CDDicd00182. TBOX. 1 hit.
Gene3Di2.60.40.820. 1 hit.
InterProiIPR008967. p53-like_TF_DNA-bd.
IPR001699. TF_T-box.
IPR018186. TF_T-box_CS.
[Graphical view]
PANTHERiPTHR11267. PTHR11267. 1 hit.
PfamiPF00907. T-box. 1 hit.
[Graphical view]
PRINTSiPR00937. TBOX.
SMARTiSM00425. TBOX. 1 hit.
[Graphical view]
SUPFAMiSSF49417. SSF49417. 1 hit.
PROSITEiPS01283. TBOX_1. 1 hit.
PS01264. TBOX_2. 1 hit.
PS50252. TBOX_3. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P57082-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MLQDKGLSES EEAFRAPGPA LGEASAANAP EPALAAPGLS GAALGSPPGP
60 70 80 90 100
GADVVAAAAA EQTIENIKVG LHEKELWKKF HEAGTEMIIT KAGRRMFPSY
110 120 130 140 150
KVKVTGMNPK TKYILLIDIV PADDHRYKFC DNKWMVAGKA EPAMPGRLYV
160 170 180 190 200
HPDSPATGAH WMRQLVSFQK LKLTNNHLDP FGHIILNSMH KYQPRLHIVK
210 220 230 240 250
ADENNAFGSK NTAFCTHVFP ETSFISVTSY QNHKITQLKI ENNPFAKGFR
260 270 280 290 300
GSDDSDLRVA RLQSKEYPVI SKSIMRQRLI SPQLSATPDV GPLLGTHQAL
310 320 330 340 350
QHYQHENGAH SQLAEPQDLP LSTFPTQRDS SLFYHCLKRR DGTRHLDLPC
360 370 380 390 400
KRSYLEAPSS VGEDHYFRSP PPYDQQMLSP SYCSEVTPRE ACMYSGSGPE
410 420 430 440 450
IAGVSGVDDL PPPPLSCNMW TSVSPYTSYS VQTMETVPYQ PFPTHFTATT
460 470 480 490 500
MMPRLPTLSA QSSQPPGNAH FSVYNQLSQS QVRERGPSAS FPRERGLPQG
510 520 530 540
CERKPPSPHL NAANEFLYSQ TFSLSRESSL QYHSGMGTVE NWTDG
Length:545
Mass (Da):60,204
Last modified:August 16, 2004 - v2
Checksum:iB822FD05EE98C8CD
GO
Isoform 2 (identifier: P57082-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     340-340: R → RA

Note: No experimental confirmation available.
Show »
Length:546
Mass (Da):60,275
Checksum:iFBBD5B47E298A2CA
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0202516G → A.2 PublicationsCorresponds to variant rs3744448dbSNPEnsembl.1
Natural variantiVAR_02677235A → V.1 PublicationCorresponds to variant rs148424252dbSNPEnsembl.1
Natural variantiVAR_026745248G → V in ICPPS. 1 PublicationCorresponds to variant rs28938474dbSNPEnsembl.1
Natural variantiVAR_021983314A → V.Corresponds to variant rs3744438dbSNPEnsembl.1
Natural variantiVAR_026746531Q → R in ICPPS. 1 PublicationCorresponds to variant rs28936696dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_054002340R → RA in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF188703 mRNA. Translation: AAF68854.1.
AC005901 Genomic DNA. No translation available.
BC136403 mRNA. Translation: AAI36404.1.
BC142620 mRNA. Translation: AAI42621.1.
BC144062 mRNA. Translation: AAI44063.1.
CCDSiCCDS11629.1. [P57082-1]
CCDS82180.1. [P57082-2]
RefSeqiNP_001308049.1. NM_001321120.1. [P57082-2]
NP_060958.2. NM_018488.3. [P57082-1]
UniGeneiHs.143907.

Genome annotation databases

EnsembliENST00000240335; ENSP00000240335; ENSG00000121075. [P57082-1]
ENST00000393853; ENSP00000377435; ENSG00000121075. [P57082-2]
GeneIDi9496.
KEGGihsa:9496.
UCSCiuc002izi.3. human. [P57082-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF188703 mRNA. Translation: AAF68854.1.
AC005901 Genomic DNA. No translation available.
BC136403 mRNA. Translation: AAI36404.1.
BC142620 mRNA. Translation: AAI42621.1.
BC144062 mRNA. Translation: AAI44063.1.
CCDSiCCDS11629.1. [P57082-1]
CCDS82180.1. [P57082-2]
RefSeqiNP_001308049.1. NM_001321120.1. [P57082-2]
NP_060958.2. NM_018488.3. [P57082-1]
UniGeneiHs.143907.

3D structure databases

ProteinModelPortaliP57082.
SMRiP57082.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114875. 3 interactors.
IntActiP57082. 1 interactor.
MINTiMINT-1199737.
STRINGi9606.ENSP00000240335.

PTM databases

iPTMnetiP57082.
PhosphoSitePlusiP57082.

Polymorphism and mutation databases

BioMutaiTBX4.
DMDMi51338786.

Proteomic databases

PaxDbiP57082.
PeptideAtlasiP57082.
PRIDEiP57082.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000240335; ENSP00000240335; ENSG00000121075. [P57082-1]
ENST00000393853; ENSP00000377435; ENSG00000121075. [P57082-2]
GeneIDi9496.
KEGGihsa:9496.
UCSCiuc002izi.3. human. [P57082-1]

Organism-specific databases

CTDi9496.
DisGeNETi9496.
GeneCardsiTBX4.
HGNCiHGNC:11603. TBX4.
HPAiCAB032413.
MalaCardsiTBX4.
MIMi147891. phenotype.
601719. gene.
neXtProtiNX_P57082.
OpenTargetsiENSG00000121075.
Orphaneti261279. 17q23.1q23.2 microdeletion syndrome.
1509. Coxopodopatellar syndrome.
238578. Familial clubfoot due to 17q23.1q23.2 microduplication.
275777. Heritable pulmonary arterial hypertension.
PharmGKBiPA36366.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3585. Eukaryota.
ENOG410XSTS. LUCA.
GeneTreeiENSGT00760000118897.
HOGENOMiHOG000286001.
HOVERGENiHBG007310.
InParanoidiP57082.
KOiK10178.
OMAiCLKRRAD.
OrthoDBiEOG091G0I8R.
PhylomeDBiP57082.
TreeFamiTF106341.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000121075-MONOMER.

Miscellaneous databases

ChiTaRSiTBX4. human.
GenomeRNAii9496.
PROiP57082.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000121075.
CleanExiHS_TBX4.
ExpressionAtlasiP57082. baseline and differential.
GenevisibleiP57082. HS.

Family and domain databases

CDDicd00182. TBOX. 1 hit.
Gene3Di2.60.40.820. 1 hit.
InterProiIPR008967. p53-like_TF_DNA-bd.
IPR001699. TF_T-box.
IPR018186. TF_T-box_CS.
[Graphical view]
PANTHERiPTHR11267. PTHR11267. 1 hit.
PfamiPF00907. T-box. 1 hit.
[Graphical view]
PRINTSiPR00937. TBOX.
SMARTiSM00425. TBOX. 1 hit.
[Graphical view]
SUPFAMiSSF49417. SSF49417. 1 hit.
PROSITEiPS01283. TBOX_1. 1 hit.
PS01264. TBOX_2. 1 hit.
PS50252. TBOX_3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTBX4_HUMAN
AccessioniPrimary (citable) accession number: P57082
Secondary accession number(s): A5PKU7, B2RMT1, B7ZLV3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: August 16, 2004
Last modified: November 30, 2016
This is version 145 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.