TBX15_HUMAN
ID TBX15_HUMAN Reviewed; 602 AA.
AC Q96SF7; Q08E76; Q5JT54; Q5T9S7;
DT 16-MAY-2003, integrated into UniProtKB/Swiss-Prot.
DT 15-FEB-2005, sequence version 2.
DT 03-AUG-2022, entry version 157.
DE RecName: Full=T-box transcription factor TBX15;
DE Short=T-box protein 15;
DE AltName: Full=T-box transcription factor TBX14;
DE Short=T-box protein 14;
GN Name=TBX15; Synonyms=TBX14;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP INVOLVEMENT IN COUSS.
RX PubMed=19068278; DOI=10.1016/j.ajhg.2008.10.011;
RA Lausch E., Hermanns P., Farin H.F., Alanay Y., Unger S., Nikkel S.,
RA Steinwender C., Scherer G., Spranger J., Zabel B., Kispert A.,
RA Superti-Furga A.;
RT "TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and
RT pelvis, and short stature in Cousin syndrome.";
RL Am. J. Hum. Genet. 83:649-655(2008).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-330, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- FUNCTION: Probable transcriptional regulator involved in the
CC development of the skeleton of the limb, vertebral column and head.
CC Acts by controlling the number of mesenchymal precursor cells and
CC chondrocytes (By similarity). {ECO:0000250}.
CC -!- SUBUNIT: Can form a heterodimer with TBX18.
CC {ECO:0000250|UniProtKB:O70306}.
CC -!- INTERACTION:
CC Q96SF7; P54253: ATXN1; NbExp=3; IntAct=EBI-10191361, EBI-930964;
CC Q96SF7; Q6PKX4: DOK6; NbExp=3; IntAct=EBI-10191361, EBI-2880244;
CC Q96SF7; Q86UW9: DTX2; NbExp=3; IntAct=EBI-10191361, EBI-740376;
CC Q96SF7; P49639: HOXA1; NbExp=3; IntAct=EBI-10191361, EBI-740785;
CC Q96SF7; Q8TDC0: MYOZ3; NbExp=3; IntAct=EBI-10191361, EBI-5662487;
CC Q96SF7; Q96HA8: NTAQ1; NbExp=3; IntAct=EBI-10191361, EBI-741158;
CC Q96SF7; P56282: POLE2; NbExp=3; IntAct=EBI-10191361, EBI-713847;
CC Q96SF7; O94955: RHOBTB3; NbExp=3; IntAct=EBI-10191361, EBI-2367123;
CC Q96SF7; O95947: TBX6; NbExp=3; IntAct=EBI-10191361, EBI-2824328;
CC Q96SF7; Q96M29: TEKT5; NbExp=3; IntAct=EBI-10191361, EBI-10239812;
CC Q96SF7; O95231: VENTX; NbExp=4; IntAct=EBI-10191361, EBI-10191303;
CC Q96SF7; A8MV65-2: VGLL3; NbExp=3; IntAct=EBI-10191361, EBI-11957216;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00201}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96SF7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96SF7-2; Sequence=VSP_040036;
CC -!- DISEASE: Cousin syndrome (COUSS) [MIM:260660]: Defined as pelviscapular
CC dysplasia with epiphyseal abnormalities, congenital dwarfism and facial
CC dysmorphy (frontal bossing, hypertelorism, narrow palpebral fissures,
CC deep set globes, strabismus, low-set posteriory rotated and unusually
CC formed external ears, dysplasia of conchae, small chin, short neck with
CC redundant skin folds, and a low hairline). Intelligence may vary from
CC normal to moderately impaired. Radiographic features comprise aplasia
CC of the body of the scapula, hypoplasia of the iliac bone, humeroradial
CC synosthosis, dislocation of the femoral heads, and moderate
CC brachydactyly. {ECO:0000269|PubMed:19068278}. Note=The disease is
CC caused by variants affecting the gene represented in this entry.
CC -!- MISCELLANEOUS: [Isoform 1]: Gene prediction based on similarity to
CC orthologs.
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DR EMBL; AK127536; BAG54518.1; -; mRNA.
DR EMBL; AL139420; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL357045; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC122553; AAI22554.2; -; mRNA.
DR CCDS; CCDS30816.1; -. [Q96SF7-2]
DR CCDS; CCDS81360.1; -. [Q96SF7-1]
DR RefSeq; NP_001317606.1; NM_001330677.1. [Q96SF7-1]
DR RefSeq; NP_689593.2; NM_152380.2. [Q96SF7-2]
DR AlphaFoldDB; Q96SF7; -.
DR SMR; Q96SF7; -.
DR BioGRID; 112775; 13.
DR IntAct; Q96SF7; 14.
DR MINT; Q96SF7; -.
DR STRING; 9606.ENSP00000207157; -.
DR iPTMnet; Q96SF7; -.
DR PhosphoSitePlus; Q96SF7; -.
DR BioMuta; TBX15; -.
DR DMDM; 59803103; -.
DR EPD; Q96SF7; -.
DR MassIVE; Q96SF7; -.
DR PaxDb; Q96SF7; -.
DR PeptideAtlas; Q96SF7; -.
DR PRIDE; Q96SF7; -.
DR ProteomicsDB; 78110; -. [Q96SF7-1]
DR ProteomicsDB; 78111; -. [Q96SF7-2]
DR Antibodypedia; 20199; 156 antibodies from 27 providers.
DR DNASU; 6913; -.
DR Ensembl; ENST00000207157.7; ENSP00000207157.3; ENSG00000092607.15. [Q96SF7-2]
DR Ensembl; ENST00000369429.5; ENSP00000358437.3; ENSG00000092607.15. [Q96SF7-1]
DR GeneID; 6913; -.
DR KEGG; hsa:6913; -.
DR MANE-Select; ENST00000369429.5; ENSP00000358437.3; NM_001330677.2; NP_001317606.1.
DR UCSC; uc001ehl.2; human. [Q96SF7-1]
DR CTD; 6913; -.
DR DisGeNET; 6913; -.
DR GeneCards; TBX15; -.
DR HGNC; HGNC:11594; TBX15.
DR HPA; ENSG00000092607; Group enriched (liver, skeletal muscle, tongue).
DR MalaCards; TBX15; -.
DR MIM; 260660; phenotype.
DR MIM; 604127; gene.
DR neXtProt; NX_Q96SF7; -.
DR OpenTargets; ENSG00000092607; -.
DR Orphanet; 93333; Pelviscapular dysplasia.
DR PharmGKB; PA36357; -.
DR VEuPathDB; HostDB:ENSG00000092607; -.
DR eggNOG; KOG3586; Eukaryota.
DR GeneTree; ENSGT00940000159013; -.
DR HOGENOM; CLU_030727_0_0_1; -.
DR InParanoid; Q96SF7; -.
DR OMA; QTANTCD; -.
DR OrthoDB; 828211at2759; -.
DR PhylomeDB; Q96SF7; -.
DR TreeFam; TF106341; -.
DR PathwayCommons; Q96SF7; -.
DR SignaLink; Q96SF7; -.
DR BioGRID-ORCS; 6913; 16 hits in 1098 CRISPR screens.
DR ChiTaRS; TBX15; human.
DR GenomeRNAi; 6913; -.
DR Pharos; Q96SF7; Tbio.
DR PRO; PR:Q96SF7; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q96SF7; protein.
DR Bgee; ENSG00000092607; Expressed in gastrocnemius and 133 other tissues.
DR ExpressionAtlas; Q96SF7; baseline and differential.
DR Genevisible; Q96SF7; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0090571; C:RNA polymerase II transcription repressor complex; IEA:Ensembl.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IEA:Ensembl.
DR GO; GO:0042803; F:protein homodimerization activity; IEA:Ensembl.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0001708; P:cell fate specification; IBA:GO_Central.
DR GO; GO:0048701; P:embryonic cranial skeleton morphogenesis; IEA:Ensembl.
DR GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IEA:InterPro.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR CDD; cd00182; TBOX; 1.
DR Gene3D; 2.60.40.820; -; 1.
DR InterPro; IPR008967; p53-like_TF_DNA-bd.
DR InterPro; IPR046360; T-box_DNA-bd.
DR InterPro; IPR036960; T-box_sf.
DR InterPro; IPR001699; TF_T-box.
DR InterPro; IPR018186; TF_T-box_CS.
DR PANTHER; PTHR11267; PTHR11267; 1.
DR Pfam; PF00907; T-box; 1.
DR PRINTS; PR00937; TBOX.
DR SMART; SM00425; TBOX; 1.
DR SUPFAM; SSF49417; SSF49417; 1.
DR PROSITE; PS01283; TBOX_1; 1.
DR PROSITE; PS01264; TBOX_2; 1.
DR PROSITE; PS50252; TBOX_3; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; DNA-binding; Nucleus; Phosphoprotein;
KW Reference proteome; Transcription; Transcription regulation.
FT CHAIN 1..602
FT /note="T-box transcription factor TBX15"
FT /id="PRO_0000184444"
FT DNA_BIND 122..304
FT /note="T-box"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00201"
FT REGION 46..84
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 338..369
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 425..447
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 69..84
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 330
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 1..106
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_040036"
FT VARIANT 156
FT /note="H -> N (in dbSNP:rs10494217)"
FT /id="VAR_055341"
SQ SEQUENCE 602 AA; 65757 MW; 95CF3C1CDF089085 CRC64;
MSERRRSAVA LSSRAHAFSV EALIGSNKKR KLRDWEEKGL DLSMEALSPA GPLGDTEDAA
AHGLEPHPDS EQSTGSDSEV LTERTSCSFS THTDLASGAA GPVPAAMSSM EEIQVELQCA
DLWKRFHDIG TEMIITKAGR RMFPAMRVKI TGLDPHQQYY IAMDIVPVDN KRYRYVYHSS
KWMVAGNADS PVPPRVYIHP DSLASGDTWM RQVVSFDKLK LTNNELDDQG HIILHSMHKY
QPRVHVIRKD FSSDLSPTKP VPVGDGVKTF NFPETVFTTV TAYQNQQITR LKIDRNPFAK
GFRDSGRNRT GLEAIMETYA FWRPPVRTLT FEDFTTMQKQ QGGSTGTSPT TSSTGTPSPS
ASSHLLSPSC SPPTFHLAPN TFNVGCRESQ LCNLNLSDYP PCARSNMAAL QSYPGLSDSG
YNRLQSGTTS ATQPSETFMP QRTPSLISGI PTPPSLPGNS KMEAYGGQLG SFPTSQFQYV
MQAGNAASSS SSPHMFGGSH MQQSSYNAFS LHNPYNLYGY NFPTSPRLAA SPEKLSASQS
TLLCSSPSNG AFGERQYLPS GMEHSMHMIS PSPNNQQATN TCDGRQYGAV PGSSSQMSVH
MV
