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O60806 (TBX19_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 126. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
T-box transcription factor TBX19

Short name=T-box protein 19
Alternative name(s):
T-box factor, pituitary
Gene names
Name:TBX19
Synonyms:TPIT
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length448 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Transcriptional regulator involved in developmental processes. Can activate POMC gene expression and repress the alpha glycoprotein subunit and thyroid-stimulating hormone beta promoters. Ref.4

Subcellular location

Nucleus Potential.

Involvement in 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Sequence similarities

Contains 1 T-box DNA-binding domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 448448T-box transcription factor TBX19
PRO_0000184449

Regions

DNA binding45 – 218174T-box

Natural variations

Natural variant1281S → F in IAD. Ref.4
VAR_018387

Sequences

Sequence LengthMass (Da)Tools
O60806 [UniParc].

Last modified August 1, 1999. Version 3.
Checksum: B7B1DFF14B8B53C5

FASTA44848,238
        10         20         30         40         50         60 
MAMSELGTRK PSDGTVSHLL NVVESELQAG REKGDPTEKQ LQIILEDAPL WQRFKEVTNE 

        70         80         90        100        110        120 
MIVTKNGRRM FPVLKISVTG LDPNAMYSLL LDFVPTDSHR WKYVNGEWVP AGKPEVSSHS 

       130        140        150        160        170        180 
CVYIHPDSPN FGAHWMKAPI SFSKVKLTNK LNGGGQIMLN SLHKYEPQVH IVRVGSAHRM 

       190        200        210        220        230        240 
VTNCSFPETQ FIAVTAYQNE EITALKIKYN PFAKAFLDAK ERNHLRDVPE AISESQHVTY 

       250        260        270        280        290        300 
SHLGGWIFSN PDGVCTAGNS NYQYAAPLPL PAPHTHHGCE HYSGLRGHRQ APYPSAYMHR 

       310        320        330        340        350        360 
NHSPSVNLIE SSSNNLQVFS GPDSWTSLSS TPHASILSVP HTNGPINPGP SPYPCLWTIS 

       370        380        390        400        410        420 
NGAGGPSGPG PEVHASTPGA FLLGNPAVTS PPSVLSTQAP TSAGVEVLGE PSLTSIAVST 

       430        440 
WTAVASHPFA GWGGPGAGGH HSPSSLDG 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ010277 mRNA. Translation: CAB37936.1.
AL009051 Genomic DNA. Translation: CAI22640.1.
BC093664 mRNA. Translation: AAH93664.1.
BC093666 mRNA. Translation: AAH93666.1.
CCDSCCDS1272.1.
RefSeqNP_005140.1. NM_005149.2.
UniGeneHs.716656.

3D structure databases

ProteinModelPortalO60806.
SMRO60806. Positions 40-223.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000356795.

PTM databases

PhosphoSiteO60806.

Proteomic databases

PaxDbO60806.
PRIDEO60806.

Protocols and materials databases

DNASU9095.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000367821; ENSP00000356795; ENSG00000143178.
GeneID9095.
KEGGhsa:9095.
UCSCuc001gfl.3. human.

Organism-specific databases

CTD9095.
GeneCardsGC01P168250.
H-InvDBHIX0001308.
HGNCHGNC:11596. TBX19.
HPAHPA005800.
MIM201400. phenotype.
604614. gene.
neXtProtNX_O60806.
Orphanet199296. Congenital isolated ACTH deficiency.
PharmGKBPA36359.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG257463.
HOGENOMHOG000063663.
HOVERGENHBG004599.
InParanoidO60806.
KOK10184.
OMAQHVAYSH.
OrthoDBEOG7GN2PM.
PhylomeDBO60806.
TreeFamTF106341.

Gene expression databases

ArrayExpressO60806.
BgeeO60806.
CleanExHS_TBX19.
GenevestigatorO60806.

Family and domain databases

Gene3D2.60.40.820. 1 hit.
InterProIPR008967. p53-like_TF_DNA-bd.
IPR002070. TF_Brachyury.
IPR001699. TF_T-box.
IPR018186. TF_T-box_CS.
[Graphical view]
PANTHERPTHR11267. PTHR11267. 1 hit.
PfamPF00907. T-box. 1 hit.
[Graphical view]
PRINTSPR00938. BRACHYURY.
PR00937. TBOX.
SMARTSM00425. TBOX. 1 hit.
[Graphical view]
SUPFAMSSF49417. SSF49417. 1 hit.
PROSITEPS01283. TBOX_1. 1 hit.
PS01264. TBOX_2. 1 hit.
PS50252. TBOX_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSTBX19. human.
GeneWikiTBX19.
GenomeRNAi9095.
NextBio34081.
PROO60806.
SOURCESearch...

Entry information

Entry nameTBX19_HUMAN
AccessionPrimary (citable) accession number: O60806
Secondary accession number(s): Q52M53
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: August 1, 1999
Last modified: July 9, 2014
This is version 126 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM