TBX10_HUMAN
ID TBX10_HUMAN Reviewed; 385 AA.
AC O75333; Q14D64; Q86XS3;
DT 01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
DT 16-AUG-2004, sequence version 2.
DT 03-AUG-2022, entry version 164.
DE RecName: Full=T-box transcription factor TBX10;
DE Short=T-box protein 10;
GN Name=TBX10; Synonyms=TBX7;
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 [MRNA].
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 [LARGE SCALE MRNA].
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 [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 126-335.
RC TISSUE=Lymph node;
RX PubMed=9545502; DOI=10.1007/s003359900780;
RA Law D.J., Garvey N., Agulnik S.I., Perlroth V., Hahn O.M., Rhinehart R.E.,
RA Gebuhr T.C., Silver L.M.;
RT "TBX10, a member of the Tbx1-subfamily of conserved developmental genes, is
RT located at human chromosome 11q13 and proximal mouse chromosome 19.";
RL Mamm. Genome 9:397-399(1998).
CC -!- FUNCTION: Probable transcriptional regulator involved in developmental
CC processes.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00201}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAC23481.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AY229977; AAO73483.1; -; mRNA.
DR EMBL; BC113485; AAI13486.1; -; mRNA.
DR EMBL; BC113487; AAI13488.1; -; mRNA.
DR EMBL; AH006177; AAC23481.1; ALT_SEQ; Genomic_DNA.
DR CCDS; CCDS31621.1; -.
DR RefSeq; NP_005986.2; NM_005995.4.
DR AlphaFoldDB; O75333; -.
DR SMR; O75333; -.
DR BioGRID; 131494; 1.
DR STRING; 9606.ENSP00000335191; -.
DR iPTMnet; O75333; -.
DR PhosphoSitePlus; O75333; -.
DR BioMuta; TBX10; -.
DR EPD; O75333; -.
DR MassIVE; O75333; -.
DR PaxDb; O75333; -.
DR PeptideAtlas; O75333; -.
DR PRIDE; O75333; -.
DR ProteomicsDB; 49901; -.
DR Antibodypedia; 16597; 153 antibodies from 23 providers.
DR DNASU; 347853; -.
DR Ensembl; ENST00000335385.4; ENSP00000335191.3; ENSG00000167800.10.
DR GeneID; 347853; -.
DR KEGG; hsa:347853; -.
DR MANE-Select; ENST00000335385.4; ENSP00000335191.3; NM_005995.5; NP_005986.2.
DR UCSC; uc001omp.3; human.
DR CTD; 347853; -.
DR DisGeNET; 347853; -.
DR GeneCards; TBX10; -.
DR HGNC; HGNC:11593; TBX10.
DR HPA; ENSG00000167800; Tissue enriched (intestine).
DR MIM; 604648; gene.
DR neXtProt; NX_O75333; -.
DR OpenTargets; ENSG00000167800; -.
DR PharmGKB; PA36356; -.
DR VEuPathDB; HostDB:ENSG00000167800; -.
DR eggNOG; KOG3586; Eukaryota.
DR GeneTree; ENSGT00940000154816; -.
DR HOGENOM; CLU_014430_0_0_1; -.
DR InParanoid; O75333; -.
DR OMA; QADRDQG; -.
DR OrthoDB; 1185429at2759; -.
DR PhylomeDB; O75333; -.
DR TreeFam; TF106341; -.
DR PathwayCommons; O75333; -.
DR BioGRID-ORCS; 347853; 20 hits in 1088 CRISPR screens.
DR GenomeRNAi; 347853; -.
DR Pharos; O75333; Tbio.
DR PRO; PR:O75333; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; O75333; protein.
DR Bgee; ENSG00000167800; Expressed in mucosa of transverse colon and 41 other tissues.
DR Genevisible; O75333; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0009653; P:anatomical structure morphogenesis; TAS:ProtInc.
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 DNA-binding; Nucleus; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..385
FT /note="T-box transcription factor TBX10"
FT /id="PRO_0000184441"
FT DNA_BIND 69..252
FT /note="T-box"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00201"
FT REGION 22..61
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 22..50
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 101
FT /note="K -> T (in dbSNP:rs3758938)"
FT /id="VAR_021984"
FT VARIANT 160
FT /note="Q -> H (in dbSNP:rs11227873)"
FT /id="VAR_052262"
FT CONFLICT 200..201
FT /note="FV -> LL (in Ref. 3; AAC23481)"
FT /evidence="ECO:0000305"
FT CONFLICT 227
FT /note="A -> R (in Ref. 3; AAC23481)"
FT /evidence="ECO:0000305"
FT CONFLICT 290
FT /note="D -> ET (in Ref. 3; AAC23481)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 385 AA; 42341 MW; 1D838C53FB20A77C CRC64;
MAAFLSAGLG ILAPSETYPL PTTSSGWEPR LGSPFPSGPC TSSTGAQAVA EPTGQGPKNP
RVSRVTVQLE MKPLWEEFNQ LGTEMIVTKA GRRMFPPFQV KILGMDSLAD YALLMDFIPL
DDKRYRYAFH SSAWLVAGKA DPATPGRVHF HPDSPAKGAQ WMRQIVSFDK LKLTNNLLDD
NGHIILNSMH RYQPRFHVVF VDPRKDSERY AQENFKSFIF TETQFTAVTA YQNHRITQLK
IASNPFAKGF RESDLDSWPV APRPLLSVPA RSHSSLSPCV LKGATDREKD PNKASASTSK
TPAWLHHQLL PPPEVLLAPA TYRPVTYQSL YSGAPSHLGI PRTRPAPYPL PNIRADRDQG
GLPLPAGLGL LSPTVVCLGP GQDSQ
