TBX1_DANRE
ID TBX1_DANRE Reviewed; 460 AA.
AC Q8AXX2; Q7ZZB6;
DT 28-NOV-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 114.
DE RecName: Full=T-box transcription factor TBX1;
DE Short=T-box protein 1;
GN Name=tbx1; ORFNames=zgc:136724;
OS Danio rerio (Zebrafish) (Brachydanio rerio).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC Danionidae; Danioninae; Danio.
OX NCBI_TaxID=7955;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], AND DEVELOPMENTAL STAGE.
RX PubMed=12972000; DOI=10.1016/s1567-133x(03)00108-x;
RA Kochilas L.K., Potluri V., Gitler A., Balasubramanian K., Chin A.J.;
RT "Cloning and characterization of zebrafish tbx1.";
RL Gene Expr. Patterns 3:645-651(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY, AND DISRUPTION
RP PHENOTYPE.
RX PubMed=12952905; DOI=10.1242/dev.00704;
RA Piotrowski T., Ahn D.-G., Schilling T.F., Nair S., Ruvinsky I., Geisler R.,
RA Rauch G.-J., Haffter P., Zon L.I., Zhou Y., Foott H., Dawid I.B., Ho R.K.;
RT "The zebrafish van gogh mutation disrupts tbx1, which is involved in the
RT DiGeorge deletion syndrome in humans.";
RL Development 130:5043-5052(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA].
RA Boetel T., Wessels J., von der Ohe M., Maity S., Behn-Krappa A., Haardt M.;
RT "Cloning and expression of zebrafish Tbx1.";
RL Submitted (SEP-2002) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA].
RA Topczewski J., Solnica-Krezel L.;
RT "Expression of the zebrafish tbx1 gene.";
RL Submitted (DEC-2002) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RG NIH - Zebrafish Gene Collection (ZGC) project;
RL Submitted (APR-2006) to the EMBL/GenBank/DDBJ databases.
CC -!- FUNCTION: Probable transcriptional regulator involved in developmental
CC processes (By similarity). Binds to the palindromic T site 5'-
CC TTCACACCTAGGTGTGAA-3' DNA sequence (By similarity). Is required for
CC normal development of the pharyngeal arch arteries (By similarity).
CC Acts cell autonomously in the pharyngeal mesendoderm and influences the
CC development of neural crest-derived cartilages secondarily.
CC {ECO:0000250|UniProtKB:O43435, ECO:0000250|UniProtKB:P70323,
CC ECO:0000269|PubMed:12952905}.
CC -!- SUBUNIT: Binds DNA as a dimer. {ECO:0000250|UniProtKB:O43435}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00201}.
CC -!- TISSUE SPECIFICITY: Expressed in the ear and mesendodermal components
CC of pharyngeal arches. {ECO:0000269|PubMed:12952905}.
CC -!- DEVELOPMENTAL STAGE: Expression first detected at 5.0 hours post
CC fertilization (hpf) in the dorsal blastoderm margin. Through the stage
CC of embryonic shield formation, expression is restricted to the
CC hypoblast, in the region of cells fated to become head and lateral
CC plate mesoderm and pharyngeal endoderm. At 18 hpf, when the heart tube
CC is beginning to assemble, three domains of expression can be seen:
CC cardiac precursors, pharyngeal arch precursors and otic vesicle. These
CC three domains remain the sites of expression to varying degrees through
CC at least 72 hpf. By 51 hpf, expression can be seen in the cardiac
CC outflow tract, the ventricle and the atrium, although by 72 hpf cardiac
CC expression is strongest in the cardiac outflow tract.
CC {ECO:0000269|PubMed:12972000}.
CC -!- DISRUPTION PHENOTYPE: Fishes display defects in the ear, pharyngeal
CC arches and associated structures such as the thymus.
CC {ECO:0000269|PubMed:12952905}.
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DR EMBL; AY277631; AAP33907.1; -; mRNA.
DR EMBL; AY151388; AAN62482.1; -; mRNA.
DR EMBL; AY294284; AAQ63169.1; -; mRNA.
DR EMBL; AY197606; AAP37187.1; -; mRNA.
DR EMBL; BC115243; AAI15244.1; -; mRNA.
DR RefSeq; NP_899182.1; NM_183339.1.
DR AlphaFoldDB; Q8AXX2; -.
DR SMR; Q8AXX2; -.
DR STRING; 7955.ENSDARP00000118808; -.
DR PaxDb; Q8AXX2; -.
DR Ensembl; ENSDART00000040826; ENSDARP00000040825; ENSDARG00000031891.
DR GeneID; 368206; -.
DR KEGG; dre:368206; -.
DR CTD; 6899; -.
DR ZFIN; ZDB-GENE-030805-5; tbx1.
DR eggNOG; KOG3586; Eukaryota.
DR GeneTree; ENSGT00940000154816; -.
DR HOGENOM; CLU_014430_9_1_1; -.
DR InParanoid; Q8AXX2; -.
DR OrthoDB; 1185429at2759; -.
DR PhylomeDB; Q8AXX2; -.
DR TreeFam; TF106341; -.
DR Reactome; R-DRE-8953750; Transcriptional Regulation by E2F6.
DR PRO; PR:Q8AXX2; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 5.
DR Bgee; ENSDARG00000031891; Expressed in pharyngeal gill and 37 other tissues.
DR ExpressionAtlas; Q8AXX2; baseline and differential.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0042803; F:protein homodimerization activity; ISS:UniProtKB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0043565; F:sequence-specific DNA binding; ISS:UniProtKB.
DR GO; GO:0055007; P:cardiac muscle cell differentiation; IMP:ZFIN.
DR GO; GO:0060536; P:cartilage morphogenesis; IMP:ZFIN.
DR GO; GO:0001708; P:cell fate specification; IBA:GO_Central.
DR GO; GO:0043583; P:ear development; IMP:ZFIN.
DR GO; GO:0042471; P:ear morphogenesis; IMP:ZFIN.
DR GO; GO:0003143; P:embryonic heart tube morphogenesis; IMP:ZFIN.
DR GO; GO:0048703; P:embryonic viscerocranium morphogenesis; ISS:UniProtKB.
DR GO; GO:0007507; P:heart development; ISS:UniProtKB.
DR GO; GO:0001947; P:heart looping; IMP:ZFIN.
DR GO; GO:0014032; P:neural crest cell development; IMP:ZFIN.
DR GO; GO:0001755; P:neural crest cell migration; IMP:ZFIN.
DR GO; GO:0060017; P:parathyroid gland development; ISS:UniProtKB.
DR GO; GO:0043282; P:pharyngeal muscle development; IMP:ZFIN.
DR GO; GO:0060037; P:pharyngeal system development; IMP:ZFIN.
DR GO; GO:0072513; P:positive regulation of secondary heart field cardioblast proliferation; IMP:ZFIN.
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 GO; GO:0048752; P:semicircular canal morphogenesis; IMP:ZFIN.
DR GO; GO:0060023; P:soft palate development; ISS:UniProtKB.
DR GO; GO:0048538; P:thymus development; ISS:UniProtKB.
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; 2.
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 Developmental protein; DNA-binding; Nucleus; Reference proteome;
KW Transcription; Transcription regulation.
FT CHAIN 1..460
FT /note="T-box transcription factor TBX1"
FT /id="PRO_0000262459"
FT DNA_BIND 116..294
FT /note="T-box"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00201"
FT REGION 30..53
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 67..99
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 317..355
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 376..400
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 331..348
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 386..400
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 371
FT /note="G -> R (in Ref. 1; AAP33907)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 460 AA; 51551 MW; 27CAE38EFA780E67 CRC64;
MISAISSPWL TQLSHFCDVA AFTTSSLSSL NTPGSYHLSP SPGDPYSHHE SQFEPCPAAQ
HAYNYSGSNS AQAPAQGDSG TSNCSSSSSS STPNKTLVKK NPKVANINVQ LEMKALWDEF
NQLGTEMIVT KAGRRMFPTF QVKIFGMDPM ADYMLLMDFL PVDDKRYRYA FHSSSWLVAG
KADPATPGRV HYHPDSPAKG AQWMKQIVSF DKLKLTNNLL DDNGHIILNS MHRYQPRFHV
VYVDPRKDSE KYAEENYKTF VFEETRFTAV TAYQNHRITQ LKIASNPFAK GFRDCDPEDW
PRNHRPGSLQ IMSAFARTRN PMSSPPQQNG TEKEDSRREY DRDPSGNPLH SDPTHQLMSR
VLSPALPVLG GLHAVPLTAG PRSPPHELRL DGHPQPPDTL HHHPYKYPAT YEHYLGAKTR
PSPYPSPSIR GHGYHPHMNP TTANMYSATS APTNYDYGPR
