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Protein

T-box transcription factor TBX15

Gene

TBX15

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-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)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi122 – 304183T-boxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

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

HGNCiHGNC:11594. TBX15.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

Complete GO annotation...

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

MalaCardsiTBX15.
MIMi260660. phenotype.
Orphaneti93333. Pelviscapular dysplasia.
PharmGKBiPA36357.

Polymorphism and mutation databases

BioMutaiTBX15.
DMDMi59803103.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 602602T-box transcription factor TBX15PRO_0000184444Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei330 – 3301PhosphothreonineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ96SF7.
PeptideAtlasiQ96SF7.
PRIDEiQ96SF7.

PTM databases

iPTMnetiQ96SF7.
PhosphoSiteiQ96SF7.

Expressioni

Gene expression databases

BgeeiQ96SF7.
CleanExiHS_TBX15.
ExpressionAtlasiQ96SF7. baseline and differential.
GenevisibleiQ96SF7. HS.

Organism-specific databases

HPAiHPA052245.

Interactioni

Subunit structurei

Can form a heterodimer with TBX18.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
ATXN1P542533EBI-10191361,EBI-930964
POLE2P562823EBI-10191361,EBI-713847
VENTXO952313EBI-10191361,EBI-10191303

Protein-protein interaction databases

BioGridi112775. 4 interactions.
IntActiQ96SF7. 3 interactions.
STRINGi9606.ENSP00000207157.

Structurei

3D structure databases

ProteinModelPortaliQ96SF7.
SMRiQ96SF7. Positions 113-304.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiKOG3586. Eukaryota.
ENOG410Y98J. LUCA.
GeneTreeiENSGT00760000118897.
HOGENOMiHOG000039966.
HOVERGENiHBG055831.
InParanoidiQ96SF7.
KOiK10182.
OMAiNFPASPR.
OrthoDBiEOG7GN2PM.
PhylomeDBiQ96SF7.
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. 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti156 – 1561H → N.
Corresponds to variant rs10494217 [ dbSNP | Ensembl ].
VAR_055341

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 106106Missing in isoform 2. 2 PublicationsVSP_040036Add
BLAST

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]
RefSeqiNP_689593.2. NM_152380.2. [Q96SF7-2]
XP_005271219.1. XM_005271162.1. [Q96SF7-1]
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

Cross-referencesi

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]
RefSeqiNP_689593.2. NM_152380.2. [Q96SF7-2]
XP_005271219.1. XM_005271162.1. [Q96SF7-1]
UniGeneiHs.146196.

3D structure databases

ProteinModelPortaliQ96SF7.
SMRiQ96SF7. Positions 113-304.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112775. 4 interactions.
IntActiQ96SF7. 3 interactions.
STRINGi9606.ENSP00000207157.

PTM databases

iPTMnetiQ96SF7.
PhosphoSiteiQ96SF7.

Polymorphism and mutation databases

BioMutaiTBX15.
DMDMi59803103.

Proteomic databases

PaxDbiQ96SF7.
PeptideAtlasiQ96SF7.
PRIDEiQ96SF7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi6913.
GeneCardsiTBX15.
HGNCiHGNC:11594. TBX15.
HPAiHPA052245.
MalaCardsiTBX15.
MIMi260660. phenotype.
604127. gene.
neXtProtiNX_Q96SF7.
Orphaneti93333. Pelviscapular dysplasia.
PharmGKBiPA36357.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3586. Eukaryota.
ENOG410Y98J. LUCA.
GeneTreeiENSGT00760000118897.
HOGENOMiHOG000039966.
HOVERGENiHBG055831.
InParanoidiQ96SF7.
KOiK10182.
OMAiNFPASPR.
OrthoDBiEOG7GN2PM.
PhylomeDBiQ96SF7.
TreeFamiTF106341.

Miscellaneous databases

ChiTaRSiTBX15. human.
GenomeRNAii6913.
PROiQ96SF7.
SOURCEiSearch...

Gene expression databases

BgeeiQ96SF7.
CleanExiHS_TBX15.
ExpressionAtlasiQ96SF7. baseline and differential.
GenevisibleiQ96SF7. HS.

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]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
  2. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(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] (ISOFORM 2).
  4. "TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome."
    Lausch E., Hermanns P., Farin H.F., Alanay Y., Unger S., Nikkel S., Steinwender C., Scherer G., Spranger J., Zabel B., Kispert A., Superti-Furga A.
    Am. J. Hum. Genet. 83:649-655(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN COUSS.
  5. "Toward a comprehensive characterization of a human cancer cell phosphoproteome."
    Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J., Mohammed S.
    J. Proteome Res. 12:260-271(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-330, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Erythroleukemia.

Entry informationi

Entry nameiTBX15_HUMAN
AccessioniPrimary (citable) accession number: Q96SF7
Secondary accession number(s): Q08E76, Q5JT54, Q5T9S7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 16, 2003
Last sequence update: February 15, 2005
Last modified: July 6, 2016
This is version 116 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 1
    Human chromosome 1: 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.