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P57082

- TBX4_HUMAN

UniProt

P57082 - TBX4_HUMAN

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Protein

T-box transcription factor TBX4

Gene

TBX4

Organism
Homo sapiens (Human)
Status
Reviewed - 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)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi71 – 251181T-boxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. DNA binding Source: UniProtKB
  2. sequence-specific DNA binding transcription factor activity Source: UniProtKB

GO - Biological processi

  1. angiogenesis Source: Ensembl
  2. embryonic limb morphogenesis Source: Ensembl
  3. limb morphogenesis Source: UniProtKB
  4. lung development Source: Ensembl
  5. morphogenesis of an epithelium Source: Ensembl
  6. multicellular organismal development Source: UniProtKB
  7. regulation of transcription, DNA-templated Source: UniProtKB
  8. skeletal system morphogenesis Source: UniProtKB
  9. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

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
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:11603. TBX4.

Subcellular locationi

Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti248 – 2481G → V in SPS. 1 Publication
Corresponds to variant rs28938474 [ dbSNP | Ensembl ].
VAR_026745
Natural varianti531 – 5311Q → R in SPS. 1 Publication
Corresponds to variant rs28936696 [ dbSNP | Ensembl ].
VAR_026746

Keywords - Diseasei

Disease mutation

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 545545T-box transcription factor TBX4PRO_0000184433Add
BLAST

Proteomic databases

PaxDbiP57082.
PRIDEiP57082.

PTM databases

PhosphoSiteiP57082.

Expressioni

Gene expression databases

BgeeiP57082.
CleanExiHS_TBX4.
ExpressionAtlasiP57082. baseline.
GenevestigatoriP57082.

Organism-specific databases

HPAiCAB032413.

Interactioni

Protein-protein interaction databases

BioGridi114875. 1 interaction.
IntActiP57082. 1 interaction.
MINTiMINT-1199737.
STRINGi9606.ENSP00000240335.

Structurei

3D structure databases

ProteinModelPortaliP57082.
SMRiP57082. Positions 65-243.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiNOG320009.
GeneTreeiENSGT00760000118897.
HOGENOMiHOG000286001.
HOVERGENiHBG007310.
InParanoidiP57082.
KOiK10178.
OMAiPAVCERK.
PhylomeDBiP57082.
TreeFamiTF106341.

Family and domain databases

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. Align

Isoform 1 (identifier: P57082) [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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti6 – 61G → A.2 Publications
Corresponds to variant rs3744448 [ dbSNP | Ensembl ].
VAR_020251
Natural varianti35 – 351A → V.1 Publication
Corresponds to variant rs148424252 [ dbSNP | Ensembl ].
VAR_026772
Natural varianti248 – 2481G → V in SPS. 1 Publication
Corresponds to variant rs28938474 [ dbSNP | Ensembl ].
VAR_026745
Natural varianti314 – 3141A → V.
Corresponds to variant rs3744438 [ dbSNP | Ensembl ].
VAR_021983
Natural varianti531 – 5311Q → R in SPS. 1 Publication
Corresponds to variant rs28936696 [ dbSNP | Ensembl ].
VAR_026746

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei340 – 3401R → RA in isoform 2. 1 PublicationVSP_054002

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
RefSeqiNP_060958.2. NM_018488.2. [P57082-1]
XP_005257894.1. XM_005257837.1. [P57082-2]
XP_005257895.1. XM_005257838.1. [P57082-2]
UniGeneiHs.143907.

Genome annotation databases

EnsembliENST00000240335; ENSP00000240335; ENSG00000121075. [P57082-1]
ENST00000393853; ENSP00000377435; ENSG00000121075. [P57082-2]
GeneIDi9496.
KEGGihsa:9496.
UCSCiuc002izi.3. human. [P57082-1]
uc010ddo.3. human.

Polymorphism databases

DMDMi51338786.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS11629.1. [P57082-1 ]
RefSeqi NP_060958.2. NM_018488.2. [P57082-1 ]
XP_005257894.1. XM_005257837.1. [P57082-2 ]
XP_005257895.1. XM_005257838.1. [P57082-2 ]
UniGenei Hs.143907.

3D structure databases

ProteinModelPortali P57082.
SMRi P57082. Positions 65-243.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114875. 1 interaction.
IntActi P57082. 1 interaction.
MINTi MINT-1199737.
STRINGi 9606.ENSP00000240335.

PTM databases

PhosphoSitei P57082.

Polymorphism databases

DMDMi 51338786.

Proteomic databases

PaxDbi P57082.
PRIDEi P57082.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000240335 ; ENSP00000240335 ; ENSG00000121075 . [P57082-1 ]
ENST00000393853 ; ENSP00000377435 ; ENSG00000121075 . [P57082-2 ]
GeneIDi 9496.
KEGGi hsa:9496.
UCSCi uc002izi.3. human. [P57082-1 ]
uc010ddo.3. human.

Organism-specific databases

CTDi 9496.
GeneCardsi GC17P059533.
HGNCi HGNC:11603. TBX4.
HPAi CAB032413.
MIMi 147891. phenotype.
601719. gene.
neXtProti NX_P57082.
Orphaneti 261279. 17q23.1q23.2 microdeletion syndrome.
1509. Coxopodopatellar syndrome.
238578. Familial clubfoot due to 17q23.1q23.2 microduplication.
275777. Heritable pulmonary arterial hypertension.
PharmGKBi PA36366.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG320009.
GeneTreei ENSGT00760000118897.
HOGENOMi HOG000286001.
HOVERGENi HBG007310.
InParanoidi P57082.
KOi K10178.
OMAi PAVCERK.
PhylomeDBi P57082.
TreeFami TF106341.

Miscellaneous databases

GenomeRNAii 9496.
NextBioi 35462245.
PROi P57082.
SOURCEi Search...

Gene expression databases

Bgeei P57082.
CleanExi HS_TBX4.
ExpressionAtlasi P57082. baseline.
Genevestigatori P57082.

Family and domain databases

Gene3Di 2.60.40.820. 1 hit.
InterProi IPR008967. p53-like_TF_DNA-bd.
IPR001699. TF_T-box.
IPR018186. TF_T-box_CS.
[Graphical view ]
PANTHERi PTHR11267. PTHR11267. 1 hit.
Pfami PF00907. T-box. 1 hit.
[Graphical view ]
PRINTSi PR00937. TBOX.
SMARTi SM00425. TBOX. 1 hit.
[Graphical view ]
SUPFAMi SSF49417. SSF49417. 1 hit.
PROSITEi PS01283. TBOX_1. 1 hit.
PS01264. TBOX_2. 1 hit.
PS50252. TBOX_3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. Cited for: VARIANTS SPS VAL-248 AND ARG-531, VARIANTS ALA-6 AND VAL-35.

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: October 29, 2014
This is version 126 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

External Data

Dasty 3