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T-box transcription factor TBX19 (T-box protein 19) (T-box factor, pituitary)

 TBX19_HUMAN             Reviewed;         448 AA.
O60806; Q52M53;
30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
01-AUG-1999, sequence version 3.
25-OCT-2017, entry version 149.
RecName: Full=T-box transcription factor TBX19;
Short=T-box protein 19;
AltName: Full=T-box factor, pituitary;
Name=TBX19; Synonyms=TPIT;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA].
PubMed=9888994; DOI=10.1006/geno.1998.5632;
Yi C.-H., Terrett J.A., Li Q.-Y., Ellington K., Packham E.A.,
Amstrong-Buisseret L., McClure P., Slingsby T., Brook J.D.;
"Identification, mapping and phylogenomic analysis of four new human
members of the T-box gene family: EOMES, TBX6, TBX18, and TBX19.";
Genomics 55:10-20(1999).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16710414; DOI=10.1038/nature04727;
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D.,
Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A.,
Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F.,
McDonald L., Evans R., Phillips K., Atkinson A., Cooper R., Jones C.,
Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P.,
Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K.,
Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G.,
Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D.,
Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G.,
Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J.,
Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R.,
Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D.,
Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G.,
Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M.,
Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J.,
Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M.,
Loveland J., Lovell J., Lush M.J., Lyne R., Martin S.,
Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S.,
Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C.,
Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z.,
Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E.,
Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A.,
Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R.,
Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V.,
Beck S., Rogers J., Bentley D.R.;
"The DNA sequence and biological annotation of human chromosome 1.";
Nature 441:315-321(2006).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[4]
FUNCTION, AND VARIANT IAD PHE-128.
PubMed=11290323; DOI=10.1016/S0092-8674(01)00282-3;
Lamolet B., Pulichino A.-M., Lamonerie T., Gauthier Y., Brue T.,
Enjalbert A., Drouin J.;
"A pituitary cell-restricted T-box factor, Tpit, activates POMC
transcription in cooperation with Pitx homeoproteins.";
Cell 104:849-859(2001).
-!- FUNCTION: Transcriptional regulator involved in developmental
processes. Can activate POMC gene expression and repress the alpha
glycoprotein subunit and thyroid-stimulating hormone beta
promoters. {ECO:0000269|PubMed:11290323}.
-!- INTERACTION:
P78337:PITX1; NbExp=4; IntAct=EBI-12096770, EBI-748265;
Q92734:TFG; NbExp=4; IntAct=EBI-12096770, EBI-357061;
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-
ProRule:PRU00201}.
-!- DISEASE: ACTH deficiency, isolated (IAD) [MIM:201400]: A disorder
that is characterized by adrenal insufficiency symptoms, such as
weight loss, lack of appetite (anorexia), weakness, nausea,
vomiting and low blood pressure (hypotension). The pituitary
hormone ACTH is decreased or absent, and other cortisol and other
steroid hormone levels in the blood are abnormally low.
{ECO:0000269|PubMed:11290323}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-----------------------------------------------------------------------
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Distributed under the Creative Commons Attribution-NoDerivs License
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EMBL; AJ010277; CAB37936.1; -; mRNA.
EMBL; AL009051; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC093664; AAH93664.1; -; mRNA.
EMBL; BC093666; AAH93666.1; -; mRNA.
CCDS; CCDS1272.1; -.
RefSeq; NP_005140.1; NM_005149.2.
UniGene; Hs.716656; -.
ProteinModelPortal; O60806; -.
SMR; O60806; -.
IntAct; O60806; 11.
STRING; 9606.ENSP00000356795; -.
iPTMnet; O60806; -.
PhosphoSitePlus; O60806; -.
BioMuta; TBX19; -.
EPD; O60806; -.
PaxDb; O60806; -.
PeptideAtlas; O60806; -.
PRIDE; O60806; -.
DNASU; 9095; -.
Ensembl; ENST00000367821; ENSP00000356795; ENSG00000143178.
GeneID; 9095; -.
KEGG; hsa:9095; -.
UCSC; uc001gfl.5; human.
CTD; 9095; -.
DisGeNET; 9095; -.
EuPathDB; HostDB:ENSG00000143178.12; -.
GeneCards; TBX19; -.
H-InvDB; HIX0001308; -.
HGNC; HGNC:11596; TBX19.
HPA; HPA005800; -.
MalaCards; TBX19; -.
MIM; 201400; phenotype.
MIM; 604614; gene.
neXtProt; NX_O60806; -.
OpenTargets; ENSG00000143178; -.
Orphanet; 199296; Congenital isolated ACTH deficiency.
PharmGKB; PA36359; -.
eggNOG; KOG3585; Eukaryota.
eggNOG; ENOG410XSTS; LUCA.
GeneTree; ENSGT00900000140847; -.
HOGENOM; HOG000063663; -.
HOVERGEN; HBG004599; -.
InParanoid; O60806; -.
KO; K10184; -.
OMA; QHVAYSH; -.
OrthoDB; EOG091G05OC; -.
PhylomeDB; O60806; -.
TreeFam; TF106341; -.
ChiTaRS; TBX19; human.
GeneWiki; TBX19; -.
GenomeRNAi; 9095; -.
PRO; PR:O60806; -.
Proteomes; UP000005640; Chromosome 1.
Bgee; ENSG00000143178; -.
CleanEx; HS_TBX19; -.
ExpressionAtlas; O60806; baseline and differential.
Genevisible; O60806; HS.
GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
GO; GO:0001158; F:enhancer sequence-specific DNA binding; IEA:Ensembl.
GO; GO:0000978; F:RNA polymerase II core promoter proximal region sequence-specific DNA binding; IEA:Ensembl.
GO; GO:0001077; F:transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding; IEA:Ensembl.
GO; GO:0009653; P:anatomical structure morphogenesis; TAS:ProtInc.
GO; GO:0045165; P:cell fate commitment; IEA:Ensembl.
GO; GO:0021983; P:pituitary gland development; IEA:Ensembl.
GO; GO:0045595; P:regulation of cell differentiation; IEA:Ensembl.
GO; GO:0042127; P:regulation of cell proliferation; IEA:Ensembl.
GO; GO:0006357; P:regulation of transcription from RNA polymerase II promoter; TAS:ProtInc.
CDD; cd00182; TBOX; 1.
Gene3D; 2.60.40.820; -; 1.
InterPro; IPR008967; p53-like_TF_DNA-bd.
InterPro; IPR036960; T-box_sf.
InterPro; IPR002070; TF_Brachyury.
InterPro; IPR001699; TF_T-box.
InterPro; IPR018186; TF_T-box_CS.
PANTHER; PTHR11267; PTHR11267; 1.
Pfam; PF00907; T-box; 1.
PRINTS; PR00938; BRACHYURY.
PRINTS; PR00937; TBOX.
SMART; SM00425; TBOX; 1.
SUPFAM; SSF49417; SSF49417; 1.
PROSITE; PS01283; TBOX_1; 1.
PROSITE; PS01264; TBOX_2; 1.
PROSITE; PS50252; TBOX_3; 1.
1: Evidence at protein level;
Activator; Complete proteome; Disease mutation; DNA-binding; Nucleus;
Reference proteome; Repressor; Transcription;
Transcription regulation.
CHAIN 1 448 T-box transcription factor TBX19.
/FTId=PRO_0000184449.
DNA_BIND 45 218 T-box. {ECO:0000255|PROSITE-
ProRule:PRU00201}.
VARIANT 128 128 S -> F (in IAD; dbSNP:rs74315377).
{ECO:0000269|PubMed:11290323}.
/FTId=VAR_018387.
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


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