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O60806

- TBX19_HUMAN

UniProt

O60806 - TBX19_HUMAN

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Protein

T-box transcription factor TBX19

Gene

TBX19

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

Transcriptional regulator involved in developmental processes. Can activate POMC gene expression and repress the alpha glycoprotein subunit and thyroid-stimulating hormone beta promoters.1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi45 – 218174T-boxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. enhancer sequence-specific DNA binding Source: Ensembl
  2. sequence-specific DNA binding transcription factor activity Source: Ensembl

GO - Biological processi

  1. anatomical structure morphogenesis Source: ProtInc
  2. cell fate commitment Source: Ensembl
  3. pituitary gland development Source: Ensembl
  4. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  5. regulation of cell differentiation Source: Ensembl
  6. regulation of cell proliferation Source: Ensembl
  7. regulation of transcription from RNA polymerase II promoter Source: ProtInc
  8. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Activator, Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
T-box transcription factor TBX19
Short name:
T-box protein 19
Alternative name(s):
T-box factor, pituitary
Gene namesi
Name:TBX19
Synonyms:TPIT
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:11596. TBX19.

Subcellular locationi

Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti128 – 1281S → F in IAD. 1 Publication
VAR_018387

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi201400. phenotype.
Orphaneti199296. Congenital isolated ACTH deficiency.
PharmGKBiPA36359.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 448448T-box transcription factor TBX19PRO_0000184449Add
BLAST

Proteomic databases

PaxDbiO60806.
PRIDEiO60806.

PTM databases

PhosphoSiteiO60806.

Expressioni

Gene expression databases

BgeeiO60806.
CleanExiHS_TBX19.
ExpressionAtlasiO60806. baseline.
GenevestigatoriO60806.

Organism-specific databases

HPAiHPA005800.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000356795.

Structurei

3D structure databases

ProteinModelPortaliO60806.
SMRiO60806. Positions 40-223.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Contains 1 T-box DNA-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG257463.
GeneTreeiENSGT00760000118897.
HOGENOMiHOG000063663.
HOVERGENiHBG004599.
InParanoidiO60806.
KOiK10184.
OMAiQHVAYSH.
OrthoDBiEOG7GN2PM.
PhylomeDBiO60806.
TreeFamiTF106341.

Family and domain databases

Gene3Di2.60.40.820. 1 hit.
InterProiIPR008967. p53-like_TF_DNA-bd.
IPR002070. TF_Brachyury.
IPR001699. TF_T-box.
IPR018186. TF_T-box_CS.
[Graphical view]
PANTHERiPTHR11267. PTHR11267. 1 hit.
PfamiPF00907. T-box. 1 hit.
[Graphical view]
PRINTSiPR00938. BRACHYURY.
PR00937. TBOX.
SMARTiSM00425. TBOX. 1 hit.
[Graphical view]
SUPFAMiSSF49417. SSF49417. 1 hit.
PROSITEiPS01283. TBOX_1. 1 hit.
PS01264. TBOX_2. 1 hit.
PS50252. TBOX_3. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

O60806-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MAMSELGTRK PSDGTVSHLL NVVESELQAG REKGDPTEKQ LQIILEDAPL
60 70 80 90 100
WQRFKEVTNE MIVTKNGRRM FPVLKISVTG LDPNAMYSLL LDFVPTDSHR
110 120 130 140 150
WKYVNGEWVP AGKPEVSSHS CVYIHPDSPN FGAHWMKAPI SFSKVKLTNK
160 170 180 190 200
LNGGGQIMLN SLHKYEPQVH IVRVGSAHRM VTNCSFPETQ FIAVTAYQNE
210 220 230 240 250
EITALKIKYN PFAKAFLDAK ERNHLRDVPE AISESQHVTY SHLGGWIFSN
260 270 280 290 300
PDGVCTAGNS NYQYAAPLPL PAPHTHHGCE HYSGLRGHRQ APYPSAYMHR
310 320 330 340 350
NHSPSVNLIE SSSNNLQVFS GPDSWTSLSS TPHASILSVP HTNGPINPGP
360 370 380 390 400
SPYPCLWTIS NGAGGPSGPG PEVHASTPGA FLLGNPAVTS PPSVLSTQAP
410 420 430 440
TSAGVEVLGE PSLTSIAVST WTAVASHPFA GWGGPGAGGH HSPSSLDG
Length:448
Mass (Da):48,238
Last modified:August 1, 1999 - v3
Checksum:iB7B1DFF14B8B53C5
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti128 – 1281S → F in IAD. 1 Publication
VAR_018387

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AJ010277 mRNA. Translation: CAB37936.1.
AL009051 Genomic DNA. Translation: CAI22640.1.
BC093664 mRNA. Translation: AAH93664.1.
BC093666 mRNA. Translation: AAH93666.1.
CCDSiCCDS1272.1.
RefSeqiNP_005140.1. NM_005149.2.
UniGeneiHs.716656.

Genome annotation databases

EnsembliENST00000367821; ENSP00000356795; ENSG00000143178.
GeneIDi9095.
KEGGihsa:9095.
UCSCiuc001gfl.3. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AJ010277 mRNA. Translation: CAB37936.1 .
AL009051 Genomic DNA. Translation: CAI22640.1 .
BC093664 mRNA. Translation: AAH93664.1 .
BC093666 mRNA. Translation: AAH93666.1 .
CCDSi CCDS1272.1.
RefSeqi NP_005140.1. NM_005149.2.
UniGenei Hs.716656.

3D structure databases

ProteinModelPortali O60806.
SMRi O60806. Positions 40-223.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000356795.

PTM databases

PhosphoSitei O60806.

Proteomic databases

PaxDbi O60806.
PRIDEi O60806.

Protocols and materials databases

DNASUi 9095.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000367821 ; ENSP00000356795 ; ENSG00000143178 .
GeneIDi 9095.
KEGGi hsa:9095.
UCSCi uc001gfl.3. human.

Organism-specific databases

CTDi 9095.
GeneCardsi GC01P168250.
H-InvDB HIX0001308.
HGNCi HGNC:11596. TBX19.
HPAi HPA005800.
MIMi 201400. phenotype.
604614. gene.
neXtProti NX_O60806.
Orphaneti 199296. Congenital isolated ACTH deficiency.
PharmGKBi PA36359.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG257463.
GeneTreei ENSGT00760000118897.
HOGENOMi HOG000063663.
HOVERGENi HBG004599.
InParanoidi O60806.
KOi K10184.
OMAi QHVAYSH.
OrthoDBi EOG7GN2PM.
PhylomeDBi O60806.
TreeFami TF106341.

Miscellaneous databases

ChiTaRSi TBX19. human.
GeneWikii TBX19.
GenomeRNAii 9095.
NextBioi 34081.
PROi O60806.
SOURCEi Search...

Gene expression databases

Bgeei O60806.
CleanExi HS_TBX19.
ExpressionAtlasi O60806. baseline.
Genevestigatori O60806.

Family and domain databases

Gene3Di 2.60.40.820. 1 hit.
InterProi IPR008967. p53-like_TF_DNA-bd.
IPR002070. TF_Brachyury.
IPR001699. TF_T-box.
IPR018186. TF_T-box_CS.
[Graphical view ]
PANTHERi PTHR11267. PTHR11267. 1 hit.
Pfami PF00907. T-box. 1 hit.
[Graphical view ]
PRINTSi PR00938. BRACHYURY.
PR00937. TBOX.
SMARTi SM00425. TBOX. 1 hit.
[Graphical view ]
SUPFAMi SSF49417. SSF49417. 1 hit.
PROSITEi PS01283. TBOX_1. 1 hit.
PS01264. TBOX_2. 1 hit.
PS50252. TBOX_3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification, mapping and phylogenomic analysis of four new human members of the T-box gene family: EOMES, TBX6, TBX18, and TBX19."
    Yi C.-H., Terrett J.A., Li Q.-Y., Ellington K., Packham E.A., Amstrong-Buisseret L., McClure P., Slingsby T., Brook J.D.
    Genomics 55:10-20(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "The DNA sequence and biological annotation of human chromosome 1."
    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.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  4. "A pituitary cell-restricted T-box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins."
    Lamolet B., Pulichino A.-M., Lamonerie T., Gauthier Y., Brue T., Enjalbert A., Drouin J.
    Cell 104:849-859(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, VARIANT IAD PHE-128.

Entry informationi

Entry nameiTBX19_HUMAN
AccessioniPrimary (citable) accession number: O60806
Secondary accession number(s): Q52M53
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: August 1, 1999
Last modified: October 29, 2014
This is version 128 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3