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Protein

T-box transcription factor TBX15

Gene

TBX15

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

Functioni

Probable transcriptional regulator involved in the development of the skeleton of the limb, vertebral column and head. Acts by controlling the number of mesenchymal precursor cells and chondrocytes (By similarity).By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi122 – 304T-boxPROSITE-ProRule annotationAdd BLAST183

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
T-box transcription factor TBX15
Short name:
T-box protein 15
Alternative name(s):
T-box transcription factor TBX14
Short name:
T-box protein 14
Gene namesi
Name:TBX15
Synonyms:TBX14
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000092607.13
HGNCiHGNC:11594 TBX15
MIMi604127 gene
neXtProtiNX_Q96SF7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Cousin syndrome (COUSS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionDefined as pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphy (frontal bossing, hypertelorism, narrow palpebral fissures, deep set globes, strabismus, low-set posteriory rotated and unusually formed external ears, dysplasia of conchae, small chin, short neck with redundant skin folds, and a low hairline). Intelligence may vary from normal to moderately impaired. Radiographic features comprise aplasia of the body of the scapula, hypoplasia of the iliac bone, humeroradial synosthosis, dislocation of the femoral heads, and moderate brachydactyly.
See also OMIM:260660

Organism-specific databases

DisGeNETi6913
MalaCardsiTBX15
MIMi260660 phenotype
OpenTargetsiENSG00000092607
Orphaneti93333 Pelviscapular dysplasia
PharmGKBiPA36357

Polymorphism and mutation databases

BioMutaiTBX15
DMDMi59803103

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001844441 – 602T-box transcription factor TBX15Add BLAST602

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei330PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ96SF7
PeptideAtlasiQ96SF7
PRIDEiQ96SF7
ProteomicsDBi78110
78111 [Q96SF7-2]

PTM databases

iPTMnetiQ96SF7
PhosphoSitePlusiQ96SF7

Expressioni

Gene expression databases

BgeeiENSG00000092607
CleanExiHS_TBX15
ExpressionAtlasiQ96SF7 baseline and differential
GenevisibleiQ96SF7 HS

Organism-specific databases

HPAiHPA052245
HPA053713

Interactioni

Subunit structurei

Can form a heterodimer with TBX18.By similarity

Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi112775, 5 interactors
IntActiQ96SF7, 12 interactors
MINTiQ96SF7

Structurei

3D structure databases

ProteinModelPortaliQ96SF7
SMRiQ96SF7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiKOG3586 Eukaryota
ENOG410Y98J LUCA
GeneTreeiENSGT00760000118897
HOGENOMiHOG000039966
HOVERGENiHBG055831
InParanoidiQ96SF7
KOiK10182
OMAiLPTGMEH
OrthoDBiEOG091G0I8R
PhylomeDBiQ96SF7
TreeFamiTF106341

Family and domain databases

CDDicd00182 TBOX, 1 hit
Gene3Di2.60.40.820, 1 hit
InterProiView protein in InterPro
IPR008967 p53-like_TF_DNA-bd
IPR036960 T-box_sf
IPR001699 TF_T-box
IPR018186 TF_T-box_CS
PANTHERiPTHR11267 PTHR11267, 1 hit
PfamiView protein in Pfam
PF00907 T-box, 1 hit
PRINTSiPR00937 TBOX
SMARTiView protein in SMART
SM00425 TBOX, 1 hit
SUPFAMiSSF49417 SSF49417, 1 hit
PROSITEiView protein in PROSITE
PS01283 TBOX_1, 1 hit
PS01264 TBOX_2, 1 hit
PS50252 TBOX_3, 1 hit

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q96SF7-1) [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
MSERRRSAVA LSSRAHAFSV EALIGSNKKR KLRDWEEKGL DLSMEALSPA
60 70 80 90 100
GPLGDTEDAA AHGLEPHPDS EQSTGSDSEV LTERTSCSFS THTDLASGAA
110 120 130 140 150
GPVPAAMSSM EEIQVELQCA DLWKRFHDIG TEMIITKAGR RMFPAMRVKI
160 170 180 190 200
TGLDPHQQYY IAMDIVPVDN KRYRYVYHSS KWMVAGNADS PVPPRVYIHP
210 220 230 240 250
DSLASGDTWM RQVVSFDKLK LTNNELDDQG HIILHSMHKY QPRVHVIRKD
260 270 280 290 300
FSSDLSPTKP VPVGDGVKTF NFPETVFTTV TAYQNQQITR LKIDRNPFAK
310 320 330 340 350
GFRDSGRNRT GLEAIMETYA FWRPPVRTLT FEDFTTMQKQ QGGSTGTSPT
360 370 380 390 400
TSSTGTPSPS ASSHLLSPSC SPPTFHLAPN TFNVGCRESQ LCNLNLSDYP
410 420 430 440 450
PCARSNMAAL QSYPGLSDSG YNRLQSGTTS ATQPSETFMP QRTPSLISGI
460 470 480 490 500
PTPPSLPGNS KMEAYGGQLG SFPTSQFQYV MQAGNAASSS SSPHMFGGSH
510 520 530 540 550
MQQSSYNAFS LHNPYNLYGY NFPTSPRLAA SPEKLSASQS TLLCSSPSNG
560 570 580 590 600
AFGERQYLPS GMEHSMHMIS PSPNNQQATN TCDGRQYGAV PGSSSQMSVH

MV
Note: No experimental confirmation available. Gene prediction based on similarity to orthologs.
Length:602
Mass (Da):65,757
Last modified:February 15, 2005 - v2
Checksum:i95CF3C1CDF089085
GO
Isoform 2 (identifier: Q96SF7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-106: Missing.

Show »
Length:496
Mass (Da):54,671
Checksum:i98D01806DA201019
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_055341156H → N. Corresponds to variant dbSNP:rs10494217Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0400361 – 106Missing in isoform 2. 2 PublicationsAdd BLAST106

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK127536 mRNA Translation: BAG54518.1
AL139420 Genomic DNA No translation available.
AL357045 Genomic DNA No translation available.
BC122553 mRNA Translation: AAI22554.2
CCDSiCCDS30816.1 [Q96SF7-2]
CCDS81360.1 [Q96SF7-1]
RefSeqiNP_001317606.1, NM_001330677.1 [Q96SF7-1]
NP_689593.2, NM_152380.2 [Q96SF7-2]
UniGeneiHs.146196

Genome annotation databases

EnsembliENST00000207157; ENSP00000207157; ENSG00000092607 [Q96SF7-2]
ENST00000369429; ENSP00000358437; ENSG00000092607 [Q96SF7-1]
GeneIDi6913
KEGGihsa:6913
UCSCiuc001ehl.2 human [Q96SF7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTBX15_HUMAN
AccessioniPrimary (citable) accession number: Q96SF7
Secondary accession number(s): Q08E76, Q5JT54, Q5T9S7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 16, 2003
Last sequence update: February 15, 2005
Last modified: June 20, 2018
This is version 132 of the entry and version 2 of the sequence. See 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

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