TBX19_HUMAN
ID TBX19_HUMAN Reviewed; 448 AA.
AC O60806; Q52M53;
DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT 01-AUG-1999, sequence version 3.
DT 03-AUG-2022, entry version 176.
DE RecName: Full=T-box transcription factor TBX19 {ECO:0000305};
DE Short=T-box protein 19;
DE AltName: Full=T-box factor, pituitary;
GN Name=TBX19 {ECO:0000312|HGNC:HGNC:11596}; Synonyms=TPIT;
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=9888994; DOI=10.1006/geno.1998.5632;
RA Yi C.-H., Terrett J.A., Li Q.-Y., Ellington K., Packham E.A.,
RA Amstrong-Buisseret L., McClure P., Slingsby T., Brook J.D.;
RT "Identification, mapping and phylogenomic analysis of four new human
RT members of the T-box gene family: EOMES, TBX6, TBX18, and TBX19.";
RL Genomics 55:10-20(1999).
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].
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 FUNCTION, AND VARIANT IAD PHE-128.
RX PubMed=11290323; DOI=10.1016/s0092-8674(01)00282-3;
RA Lamolet B., Pulichino A.-M., Lamonerie T., Gauthier Y., Brue T.,
RA Enjalbert A., Drouin J.;
RT "A pituitary cell-restricted T-box factor, Tpit, activates POMC
RT transcription in cooperation with Pitx homeoproteins.";
RL Cell 104:849-859(2001).
CC -!- FUNCTION: Transcriptional regulator involved in developmental
CC processes. Can activate POMC gene expression and repress the alpha
CC glycoprotein subunit and thyroid-stimulating hormone beta promoters.
CC {ECO:0000269|PubMed:11290323}.
CC -!- INTERACTION:
CC O60806; O75603: GCM2; NbExp=3; IntAct=EBI-12096770, EBI-10188645;
CC O60806; O14964: HGS; NbExp=3; IntAct=EBI-12096770, EBI-740220;
CC O60806; P31273: HOXC8; NbExp=3; IntAct=EBI-12096770, EBI-1752118;
CC O60806; P78412: IRX6; NbExp=3; IntAct=EBI-12096770, EBI-12100506;
CC O60806; Q17RB8: LONRF1; NbExp=3; IntAct=EBI-12096770, EBI-2341787;
CC O60806; Q14511-2: NEDD9; NbExp=3; IntAct=EBI-12096770, EBI-11746523;
CC O60806; P78337: PITX1; NbExp=3; IntAct=EBI-12096770, EBI-748265;
CC O60806; Q7Z3K3: POGZ; NbExp=3; IntAct=EBI-12096770, EBI-1389308;
CC O60806; P0CG20: PRR35; NbExp=3; IntAct=EBI-12096770, EBI-11986293;
CC O60806; Q8WUD1: RAB2B; NbExp=3; IntAct=EBI-12096770, EBI-5542466;
CC O60806; O95947: TBX6; NbExp=3; IntAct=EBI-12096770, EBI-2824328;
CC O60806; Q92734: TFG; NbExp=3; IntAct=EBI-12096770, EBI-357061;
CC O60806; O95231: VENTX; NbExp=3; IntAct=EBI-12096770, EBI-10191303;
CC O60806; Q15915: ZIC1; NbExp=3; IntAct=EBI-12096770, EBI-11963196;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00201}.
CC -!- DISEASE: ACTH deficiency, isolated (IAD) [MIM:201400]: An autosomal
CC recessive disorder that is characterized by adrenal insufficiency
CC symptoms, such as weight loss, lack of appetite (anorexia), weakness,
CC nausea, vomiting and low blood pressure (hypotension). The pituitary
CC hormone ACTH is decreased or absent, and other cortisol and other
CC steroid hormone levels in the blood are abnormally low.
CC {ECO:0000269|PubMed:11290323}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
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DR EMBL; AJ010277; CAB37936.1; -; mRNA.
DR EMBL; AL009051; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC093664; AAH93664.1; -; mRNA.
DR EMBL; BC093666; AAH93666.1; -; mRNA.
DR CCDS; CCDS1272.1; -.
DR RefSeq; NP_005140.1; NM_005149.2.
DR AlphaFoldDB; O60806; -.
DR SMR; O60806; -.
DR BioGRID; 114549; 19.
DR IntAct; O60806; 14.
DR STRING; 9606.ENSP00000356795; -.
DR iPTMnet; O60806; -.
DR PhosphoSitePlus; O60806; -.
DR BioMuta; TBX19; -.
DR MassIVE; O60806; -.
DR PaxDb; O60806; -.
DR PeptideAtlas; O60806; -.
DR PRIDE; O60806; -.
DR Antibodypedia; 1794; 147 antibodies from 22 providers.
DR DNASU; 9095; -.
DR Ensembl; ENST00000367821.8; ENSP00000356795.3; ENSG00000143178.13.
DR GeneID; 9095; -.
DR KEGG; hsa:9095; -.
DR MANE-Select; ENST00000367821.8; ENSP00000356795.3; NM_005149.3; NP_005140.1.
DR UCSC; uc001gfl.5; human.
DR CTD; 9095; -.
DR DisGeNET; 9095; -.
DR GeneCards; TBX19; -.
DR HGNC; HGNC:11596; TBX19.
DR HPA; ENSG00000143178; Tissue enriched (pituitary).
DR MalaCards; TBX19; -.
DR MIM; 201400; phenotype.
DR MIM; 604614; gene.
DR neXtProt; NX_O60806; -.
DR OpenTargets; ENSG00000143178; -.
DR Orphanet; 199296; Congenital isolated ACTH deficiency.
DR PharmGKB; PA36359; -.
DR VEuPathDB; HostDB:ENSG00000143178; -.
DR eggNOG; KOG3585; Eukaryota.
DR GeneTree; ENSGT00940000160000; -.
DR InParanoid; O60806; -.
DR OMA; GPHRMVM; -.
DR OrthoDB; 1201455at2759; -.
DR PhylomeDB; O60806; -.
DR TreeFam; TF106341; -.
DR PathwayCommons; O60806; -.
DR SignaLink; O60806; -.
DR BioGRID-ORCS; 9095; 4 hits in 1089 CRISPR screens.
DR ChiTaRS; TBX19; human.
DR GeneWiki; TBX19; -.
DR GenomeRNAi; 9095; -.
DR Pharos; O60806; Tbio.
DR PRO; PR:O60806; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; O60806; protein.
DR Bgee; ENSG00000143178; Expressed in adenohypophysis and 96 other tissues.
DR ExpressionAtlas; O60806; baseline and differential.
DR Genevisible; O60806; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IEA:Ensembl.
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:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0009653; P:anatomical structure morphogenesis; TAS:ProtInc.
DR GO; GO:0001708; P:cell fate specification; IBA:GO_Central.
DR GO; GO:0003007; P:heart morphogenesis; IBA:GO_Central.
DR GO; GO:0001707; P:mesoderm formation; IBA:GO_Central.
DR GO; GO:0021983; P:pituitary gland development; IEA:Ensembl.
DR GO; GO:0045595; P:regulation of cell differentiation; IEA:Ensembl.
DR GO; GO:0042127; P:regulation of cell population proliferation; IEA:Ensembl.
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; IPR002070; TF_Brachyury.
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; PR00938; BRACHYURY.
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 Activator; Disease variant; DNA-binding; Nucleus; Reference proteome;
KW Repressor; Transcription; Transcription regulation.
FT CHAIN 1..448
FT /note="T-box transcription factor TBX19"
FT /id="PRO_0000184449"
FT DNA_BIND 45..218
FT /note="T-box"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00201"
FT VARIANT 128
FT /note="S -> F (in IAD; dbSNP:rs74315377)"
FT /evidence="ECO:0000269|PubMed:11290323"
FT /id="VAR_018387"
SQ SEQUENCE 448 AA; 48238 MW; B7B1DFF14B8B53C5 CRC64;
MAMSELGTRK PSDGTVSHLL NVVESELQAG REKGDPTEKQ LQIILEDAPL WQRFKEVTNE
MIVTKNGRRM FPVLKISVTG LDPNAMYSLL LDFVPTDSHR WKYVNGEWVP AGKPEVSSHS
CVYIHPDSPN FGAHWMKAPI SFSKVKLTNK LNGGGQIMLN SLHKYEPQVH IVRVGSAHRM
VTNCSFPETQ FIAVTAYQNE EITALKIKYN PFAKAFLDAK ERNHLRDVPE AISESQHVTY
SHLGGWIFSN PDGVCTAGNS NYQYAAPLPL PAPHTHHGCE HYSGLRGHRQ APYPSAYMHR
NHSPSVNLIE SSSNNLQVFS GPDSWTSLSS TPHASILSVP HTNGPINPGP SPYPCLWTIS
NGAGGPSGPG PEVHASTPGA FLLGNPAVTS PPSVLSTQAP TSAGVEVLGE PSLTSIAVST
WTAVASHPFA GWGGPGAGGH HSPSSLDG
