TBX5A_DANRE
ID TBX5A_DANRE Reviewed; 492 AA.
AC Q9IAK8; B8JKS5; Q9PTK3; Q9PUS7;
DT 28-NOV-2006, integrated into UniProtKB/Swiss-Prot.
DT 05-OCT-2010, sequence version 2.
DT 03-AUG-2022, entry version 139.
DE RecName: Full=T-box transcription factor TBX5-A;
DE Short=zftbx5a;
DE AltName: Full=T-box protein 5;
DE Short=zTbx5;
GN Name=tbx5a; Synonyms=heartstrings, hst, tbx5, tbx5.1;
GN ORFNames=si:ch211-245e21.2;
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=10495283; DOI=10.1016/s0925-4773(99)00126-4;
RA Tamura K., Yonei-Tamura S., Belmonte J.C.I.;
RT "Differential expression of Tbx4 and Tbx5 in Zebrafish fin buds.";
RL Mech. Dev. 87:181-184(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
RX PubMed=10664151; DOI=10.1007/s004270050014;
RA Ruvinsky I., Oates A.C., Silver L.M., Ho R.K.;
RT "The evolution of paired appendages in vertebrates: T-box genes in the
RT zebrafish.";
RL Dev. Genes Evol. 210:82-91(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Tuebingen;
RX PubMed=23594743; DOI=10.1038/nature12111;
RA Howe K., Clark M.D., Torroja C.F., Torrance J., Berthelot C., Muffato M.,
RA Collins J.E., Humphray S., McLaren K., Matthews L., McLaren S., Sealy I.,
RA Caccamo M., Churcher C., Scott C., Barrett J.C., Koch R., Rauch G.J.,
RA White S., Chow W., Kilian B., Quintais L.T., Guerra-Assuncao J.A., Zhou Y.,
RA Gu Y., Yen J., Vogel J.H., Eyre T., Redmond S., Banerjee R., Chi J., Fu B.,
RA Langley E., Maguire S.F., Laird G.K., Lloyd D., Kenyon E., Donaldson S.,
RA Sehra H., Almeida-King J., Loveland J., Trevanion S., Jones M., Quail M.,
RA Willey D., Hunt A., Burton J., Sims S., McLay K., Plumb B., Davis J.,
RA Clee C., Oliver K., Clark R., Riddle C., Elliot D., Threadgold G.,
RA Harden G., Ware D., Begum S., Mortimore B., Kerry G., Heath P.,
RA Phillimore B., Tracey A., Corby N., Dunn M., Johnson C., Wood J., Clark S.,
RA Pelan S., Griffiths G., Smith M., Glithero R., Howden P., Barker N.,
RA Lloyd C., Stevens C., Harley J., Holt K., Panagiotidis G., Lovell J.,
RA Beasley H., Henderson C., Gordon D., Auger K., Wright D., Collins J.,
RA Raisen C., Dyer L., Leung K., Robertson L., Ambridge K., Leongamornlert D.,
RA McGuire S., Gilderthorp R., Griffiths C., Manthravadi D., Nichol S.,
RA Barker G., Whitehead S., Kay M., Brown J., Murnane C., Gray E.,
RA Humphries M., Sycamore N., Barker D., Saunders D., Wallis J., Babbage A.,
RA Hammond S., Mashreghi-Mohammadi M., Barr L., Martin S., Wray P.,
RA Ellington A., Matthews N., Ellwood M., Woodmansey R., Clark G., Cooper J.,
RA Tromans A., Grafham D., Skuce C., Pandian R., Andrews R., Harrison E.,
RA Kimberley A., Garnett J., Fosker N., Hall R., Garner P., Kelly D., Bird C.,
RA Palmer S., Gehring I., Berger A., Dooley C.M., Ersan-Urun Z., Eser C.,
RA Geiger H., Geisler M., Karotki L., Kirn A., Konantz J., Konantz M.,
RA Oberlander M., Rudolph-Geiger S., Teucke M., Lanz C., Raddatz G.,
RA Osoegawa K., Zhu B., Rapp A., Widaa S., Langford C., Yang F.,
RA Schuster S.C., Carter N.P., Harrow J., Ning Z., Herrero J., Searle S.M.,
RA Enright A., Geisler R., Plasterk R.H., Lee C., Westerfield M.,
RA de Jong P.J., Zon L.I., Postlethwait J.H., Nusslein-Volhard C.,
RA Hubbard T.J., Roest Crollius H., Rogers J., Stemple D.L.;
RT "The zebrafish reference genome sequence and its relationship to the human
RT genome.";
RL Nature 496:498-503(2013).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 31-402.
RX PubMed=10640716; DOI=10.1016/s0925-4773(99)00246-4;
RA Begemann G., Ingham P.W.;
RT "Developmental regulation of Tbx5 in zebrafish embryogenesis.";
RL Mech. Dev. 90:299-304(2000).
RN [5]
RP FUNCTION, AND TISSUE SPECIFICITY.
RX PubMed=12223419; DOI=10.1242/dev.129.19.4635;
RA Garrity D.M., Childs S., Fishman M.C.;
RT "The heartstrings mutation in zebrafish causes heart/fin Tbx5 deficiency
RT syndrome.";
RL Development 129:4635-4645(2002).
RN [6]
RP FUNCTION, TISSUE SPECIFICITY, AND GENE DUPLICATION.
RX PubMed=19925885; DOI=10.1016/j.gep.2009.11.003;
RA Albalat R., Baquero M., Minguillon C.;
RT "Identification and characterisation of the developmental expression
RT pattern of tbx5b, a novel tbx5 gene in zebrafish.";
RL Gene Expr. Patterns 10:24-30(2010).
CC -!- FUNCTION: Required for pectoral fin formation. Together with tbx5b,
CC involved in eye and heart development. Required for the looping stage
CC of heart development. May bind to the core DNA motif of promoters.
CC {ECO:0000250|UniProtKB:Q99593, ECO:0000269|PubMed:12223419,
CC ECO:0000269|PubMed:19925885}.
CC -!- SUBUNIT: Monomer. Homodimer (via the T-box); binds DNA as homodimer.
CC {ECO:0000250|UniProtKB:Q99593}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q99593,
CC ECO:0000255|PROSITE-ProRule:PRU00201}. Cytoplasm
CC {ECO:0000250|UniProtKB:Q99593}. Note=Shuttles between the cytoplasm and
CC the nucleus. {ECO:0000250|UniProtKB:Q99593}.
CC -!- TISSUE SPECIFICITY: Expressed in the dorsal optic cup of developing
CC eye, pectoral fin buds and heart. At 31 hpf, when the pectoral fin buds
CC have begun bulging outwards, restricted expression is detected
CC throughout the mesenchyme of the early fin buds and these high levels
CC of expression continue until later stages.
CC {ECO:0000269|PubMed:10664151, ECO:0000269|PubMed:12223419,
CC ECO:0000269|PubMed:19925885}.
CC -!- DOMAIN: The T-Box domain binds to double-stranded DNA.
CC {ECO:0000250|UniProtKB:Q99593}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAF06733.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AF152607; AAF06733.1; ALT_FRAME; mRNA.
DR EMBL; AF179407; AAF59837.1; -; mRNA.
DR EMBL; CU181811; CAX14227.1; -; Genomic_DNA.
DR EMBL; AF185283; AAF22296.1; -; mRNA.
DR RefSeq; NP_001300611.1; NM_001313682.1.
DR RefSeq; XP_005168260.1; XM_005168203.3.
DR AlphaFoldDB; Q9IAK8; -.
DR SMR; Q9IAK8; -.
DR BioGRID; 78315; 1.
DR STRING; 7955.ENSDARP00000033053; -.
DR PaxDb; Q9IAK8; -.
DR Ensembl; ENSDART00000037691; ENSDARP00000033053; ENSDARG00000024894.
DR GeneID; 30071; -.
DR KEGG; dre:30071; -.
DR CTD; 30071; -.
DR ZFIN; ZDB-GENE-991124-7; tbx5a.
DR eggNOG; KOG3585; Eukaryota.
DR GeneTree; ENSGT00940000156506; -.
DR InParanoid; Q9IAK8; -.
DR OrthoDB; 344556at2759; -.
DR PhylomeDB; Q9IAK8; -.
DR TreeFam; TF106341; -.
DR Reactome; R-DRE-2032785; YAP1- and WWTR1 (TAZ)-stimulated gene expression.
DR PRO; PR:Q9IAK8; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 5.
DR Bgee; ENSDARG00000024894; Expressed in paired fin and 39 other tissues.
DR GO; GO:0015629; C:actin cytoskeleton; IPI:ZFIN.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005634; C:nucleus; IDA:ZFIN.
DR GO; GO:0032991; C:protein-containing complex; ISS:UniProtKB.
DR GO; GO:0032993; C:protein-DNA complex; ISS:UniProtKB.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; IDA:ZFIN.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISS:UniProtKB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; ISS:UniProtKB.
DR GO; GO:0043565; F:sequence-specific DNA binding; IDA:ZFIN.
DR GO; GO:0009887; P:animal organ morphogenesis; IMP:ZFIN.
DR GO; GO:0003294; P:atrial ventricular junction remodeling; IMP:ZFIN.
DR GO; GO:0036302; P:atrioventricular canal development; IGI:ZFIN.
DR GO; GO:0003190; P:atrioventricular valve formation; IMP:ZFIN.
DR GO; GO:0003218; P:cardiac left ventricle formation; IBA:GO_Central.
DR GO; GO:0055007; P:cardiac muscle cell differentiation; IGI:ZFIN.
DR GO; GO:0061026; P:cardiac muscle tissue regeneration; IMP:ZFIN.
DR GO; GO:0001708; P:cell fate specification; IBA:GO_Central.
DR GO; GO:0035050; P:embryonic heart tube development; IMP:ZFIN.
DR GO; GO:0003143; P:embryonic heart tube morphogenesis; IMP:ZFIN.
DR GO; GO:0035118; P:embryonic pectoral fin morphogenesis; IMP:ZFIN.
DR GO; GO:0007507; P:heart development; IMP:ZFIN.
DR GO; GO:0003146; P:heart jogging; IMP:ZFIN.
DR GO; GO:0001947; P:heart looping; IMP:ZFIN.
DR GO; GO:0003007; P:heart morphogenesis; IMP:ZFIN.
DR GO; GO:0060174; P:limb bud formation; IMP:ZFIN.
DR GO; GO:0021554; P:optic nerve development; IGI:ZFIN.
DR GO; GO:0007389; P:pattern specification process; IBA:GO_Central.
DR GO; GO:0033339; P:pectoral fin development; IMP:ZFIN.
DR GO; GO:0035138; P:pectoral fin morphogenesis; IMP:ZFIN.
DR GO; GO:0003344; P:pericardium morphogenesis; IMP:ZFIN.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:ZFIN.
DR GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IDA:ZFIN.
DR GO; GO:0003342; P:proepicardium development; IMP:ZFIN.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0006355; P:regulation of transcription, DNA-templated; IMP:ZFIN.
DR GO; GO:0060042; P:retina morphogenesis in camera-type eye; IGI:ZFIN.
DR GO; GO:0006351; P:transcription, DNA-templated; IMP:ZFIN.
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 Cytoplasm; Developmental protein; DNA-binding; Nucleus; Reference proteome;
KW Transcription; Transcription regulation.
FT CHAIN 1..492
FT /note="T-box transcription factor TBX5-A"
FT /id="PRO_0000262468"
FT DNA_BIND 62..237
FT /note="T-box"
FT /evidence="ECO:0000250|UniProtKB:Q99593,
FT ECO:0000255|PROSITE-ProRule:PRU00201"
FT REGION 1..43
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 331..352
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..19
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 28..43
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 331..349
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 282
FT /note="S -> P (in Ref. 2; AAF59837)"
FT /evidence="ECO:0000305"
FT CONFLICT 284
FT /note="S -> T (in Ref. 1; AAF06733, 2; AAF59837 and 4;
FT AAF22296)"
FT /evidence="ECO:0000305"
FT CONFLICT 296
FT /note="G -> S (in Ref. 1; AAF06733 and 2; AAF59837)"
FT /evidence="ECO:0000305"
FT CONFLICT 402
FT /note="V -> G (in Ref. 4; AAF22296)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 492 AA; 55183 MW; 83C4D08B46785EFC CRC64;
MADSEDTFRL QNSPSDSEPK DLQNEGKSDK QNAAVSKSPS SQTTYIQQGM EGIKVYLHER
ELWTKFHEVG TEMIITKAGR RMFPSFKVKV TGLNPKTKYI LLMDVVPADD HRYKFADNKW
SVTGKAEPAM PGRLYVHPDS PATGAHWMRQ LVSFQKLKLT NNHLDPFGHI ILNSMHKYQP
RIHIVKADEN NGFGSKNTAF CTHVFPETAF IAVTSYQNHK ITQLKIENNP FAKGFRGSDD
MELHRMSRMQ STKEYPVVPR STVRQRVGSS QSPFSGDVQG LSASGAISSQ YSCENGVSST
SQDLLPQSSS YHEHTQDYHC IKRKVEDECP AGEHPYKKPY VESSSSEDDH YYRPLSYSQS
LGLSGGAPYR PESSQRQACM YASAPQPPEP VPSLEDISWP GVPPYSVPQM ERLPYQHHFS
AHFASRQMPE AHGMYASSVS HQCSPSGGIQ SPSAGLQGNE YLYAHGLQRT LSPHQYHTVH
SVSIMHDWNE AS
