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

P57082 (TBX4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 123. 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·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
T-box transcription factor TBX4

Short name=T-box protein 4
Gene names
Name:TBX4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length545 AA.
Sequence statusComplete.
Protein existenceEvidence 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.4

Sequence similarities

Contains 1 T-box DNA-binding domain.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P57082-1)

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.
Isoform 2 (identifier: P57082-2)

The sequence of this isoform differs from the canonical sequence as follows:
     340-340: R → RA
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 545545T-box transcription factor TBX4
PRO_0000184433

Regions

DNA binding71 – 251181T-box

Natural variations

Alternative sequence3401R → RA in isoform 2.
VSP_054002
Natural variant61G → A. Ref.3 Ref.4
Corresponds to variant rs3744448 [ dbSNP | Ensembl ].
VAR_020251
Natural variant351A → V. Ref.4
Corresponds to variant rs148424252 [ dbSNP | Ensembl ].
VAR_026772
Natural variant2481G → V in SPS. Ref.4
Corresponds to variant rs28938474 [ dbSNP | Ensembl ].
VAR_026745
Natural variant3141A → V.
Corresponds to variant rs3744438 [ dbSNP | Ensembl ].
VAR_021983
Natural variant5311Q → R in SPS. Ref.4
Corresponds to variant rs28936696 [ dbSNP | Ensembl ].
VAR_026746

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified August 16, 2004. Version 2.
Checksum: B822FD05EE98C8CD

FASTA54560,204
        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 

« Hide

Isoform 2 [UniParc].

Checksum: FBBD5B47E298A2CA
Show »

FASTA54660,275

References

« Hide '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] (ISOFORM 1).
[2]"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. expand/collapse author list , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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] (ISOFORMS 1 AND 2), VARIANT ALA-6.
[4]"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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS11629.1.
RefSeqNP_060958.2. NM_018488.2. [P57082-1]
XP_005257894.1. XM_005257837.1. [P57082-2]
XP_005257895.1. XM_005257838.1. [P57082-2]
UniGeneHs.143907.

3D structure databases

ProteinModelPortalP57082.
SMRP57082. Positions 65-243.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114875. 1 interaction.
IntActP57082. 1 interaction.
MINTMINT-1199737.
STRING9606.ENSP00000240335.

PTM databases

PhosphoSiteP57082.

Polymorphism databases

DMDM51338786.

Proteomic databases

PaxDbP57082.
PRIDEP57082.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000240335; ENSP00000240335; ENSG00000121075.
ENST00000393853; ENSP00000377435; ENSG00000121075.
GeneID9496.
KEGGhsa:9496.
UCSCuc002izi.3. human. [P57082-1]

Organism-specific databases

CTD9496.
GeneCardsGC17P059533.
HGNCHGNC:11603. TBX4.
HPACAB032413.
MIM147891. phenotype.
601719. gene.
neXtProtNX_P57082.
Orphanet261279. 17q23.1q23.2 microdeletion syndrome.
1509. Coxo-podo-patellar syndrome.
238578. Familial clubfoot due to 17q23.1q23.2 microduplication.
275777. Heritable pulmonary arterial hypertension.
PharmGKBPA36366.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG320009.
HOGENOMHOG000286001.
HOVERGENHBG007310.
InParanoidP57082.
KOK10178.
OMAPAVCERK.
PhylomeDBP57082.
TreeFamTF106341.

Gene expression databases

ArrayExpressP57082.
BgeeP57082.
CleanExHS_TBX4.
GenevestigatorP57082.

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

GenomeRNAi9496.
NextBio35462245.
PROP57082.
SOURCESearch...

Entry information

Entry nameTBX4_HUMAN
AccessionPrimary (citable) accession number: P57082
Secondary accession number(s): A5PKU7, B2RMT1, B7ZLV3
Entry history
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: August 16, 2004
Last modified: July 9, 2014
This is version 123 of the entry and version 2 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 17

Human chromosome 17: entries, gene names and cross-references to MIM