TBX10_MOUSE
ID TBX10_MOUSE Reviewed; 385 AA.
AC Q810F8; O54841; Q32MF8; Q6QH75;
DT 16-AUG-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2003, sequence version 1.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=T-box transcription factor TBX10;
DE Short=T-box protein 10;
DE AltName: Full=MmTBX7;
DE AltName: Full=T-box protein 13;
GN Name=Tbx10; Synonyms=Tbx13, Tbx7;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC STRAIN=C57BL/6J;
RX PubMed=12915323; DOI=10.1016/s1567-133x(03)00060-7;
RA Bush J.O., Maltby K.M., Cho E.-S., Jiang R.;
RT "The T-box gene Tbx10 exhibits a uniquely restricted expression pattern
RT during mouse embryogenesis.";
RL Gene Expr. Patterns 3:533-538(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), AND DISEASE.
RC STRAIN=C3H/HeJ;
RX PubMed=15118109; DOI=10.1073/pnas.0401025101;
RA Bush J.O., Lan Y., Jiang R.;
RT "The cleft lip and palate defects in Dancer mutant mice result from gain of
RT function of the Tbx10 gene.";
RL Proc. Natl. Acad. Sci. U.S.A. 101:7022-7027(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 NUCLEOTIDE SEQUENCE [MRNA] OF 74-251.
RX PubMed=9503012; DOI=10.1006/geno.1997.5150;
RA Wattler S., Russ A., Evans M., Nehls M.;
RT "A combined analysis of genomic and primary protein structure defines the
RT phylogenetic relationship of new members of the T-box family.";
RL Genomics 48:24-33(1998).
CC -!- FUNCTION: Probable transcriptional regulator involved in developmental
CC processes. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00201}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q810F8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q810F8-2; Sequence=VSP_011305;
CC -!- DISEASE: Note=Defects in Tbx10 are the cause of a cleft lip and palate
CC (CL/P) phenotype called Dancer (Dc). The defect is caused by a gain of
CC function. {ECO:0000269|PubMed:15118109}.
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DR EMBL; AY229976; AAO73482.1; -; mRNA.
DR EMBL; AY542280; AAS55456.1; -; mRNA.
DR EMBL; BC109150; AAI09151.1; -; mRNA.
DR EMBL; BC109151; AAI09152.1; -; mRNA.
DR EMBL; AF013283; AAC40116.1; -; mRNA.
DR CCDS; CCDS29407.1; -. [Q810F8-1]
DR RefSeq; NP_001001320.1; NM_001001320.1. [Q810F8-1]
DR RefSeq; NP_035663.1; NM_011533.2. [Q810F8-2]
DR AlphaFoldDB; Q810F8; -.
DR SMR; Q810F8; -.
DR STRING; 10090.ENSMUSP00000037401; -.
DR iPTMnet; Q810F8; -.
DR PhosphoSitePlus; Q810F8; -.
DR PaxDb; Q810F8; -.
DR PRIDE; Q810F8; -.
DR DNASU; 109575; -.
DR Ensembl; ENSMUST00000041871; ENSMUSP00000037401; ENSMUSG00000037477. [Q810F8-1]
DR GeneID; 109575; -.
DR KEGG; mmu:109575; -.
DR UCSC; uc008fya.1; mouse. [Q810F8-1]
DR CTD; 347853; -.
DR MGI; MGI:1261436; Tbx10.
DR VEuPathDB; HostDB:ENSMUSG00000037477; -.
DR eggNOG; KOG3586; Eukaryota.
DR GeneTree; ENSGT00940000163374; -.
DR HOGENOM; CLU_014430_0_0_1; -.
DR InParanoid; Q810F8; -.
DR OMA; QADRDQG; -.
DR OrthoDB; 1185429at2759; -.
DR PhylomeDB; Q810F8; -.
DR TreeFam; TF106341; -.
DR BioGRID-ORCS; 109575; 1 hit in 74 CRISPR screens.
DR PRO; PR:Q810F8; -.
DR Proteomes; UP000000589; Chromosome 19.
DR RNAct; Q810F8; protein.
DR Bgee; ENSMUSG00000037477; Expressed in rhombomere 4 and 35 other tissues.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0001708; P:cell fate specification; IBA:GO_Central.
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 2: Evidence at transcript level;
KW Alternative splicing; DNA-binding; Nucleus; Reference proteome;
KW Transcription; Transcription regulation.
FT CHAIN 1..385
FT /note="T-box transcription factor TBX10"
FT /id="PRO_0000184442"
FT DNA_BIND 69..252
FT /note="T-box"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00201"
FT REGION 283..310
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 328..359
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..41
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15118109"
FT /id="VSP_011305"
FT CONFLICT 93
FT /note="Missing (in Ref. 4; AAC40116)"
FT /evidence="ECO:0000305"
FT CONFLICT 186
FT /note="L -> F (in Ref. 4; AAC40116)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 385 AA; 42407 MW; 0F0C0ABBF0881B48 CRC64;
MAVFLSAGLG VLAPPETCPH PETSTSWESR LGTRFPSGSC TMSTEAQAMA EPTGQGPKNP
RVSSVMVQLE MKPLWEEFNQ LGTEMIVTKA GRRMFPTFQV KILGMDTLAD YALLMDFIPL
DDKRYRYAFH SSAWLVAGKA DPATPGRVHF HPDSPAKGAQ WMRQIVSFDK LKLTNNLMDD
NGHIILNSMH RYQPRFHVVF VDPRKDSARY AQENFKSFVF TETQFTAVTA YQNHRITQLK
IASNPFAKGF READPDSWPV TPRPLLSIPA RSRSSLSPCL LKGSAEREKD TSKASASSSR
TPTQPHNQLL PAPDVLLAPA TYRPLPYQNL YPGSPSRAGP PRARLAPYPL PNISTAGDQE
DPTLAAGLGL LPTSALCLVS NQASQ