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Protein

T-box transcription factor TBX19

Gene

TBX19

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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)DescriptionActionsGraphical viewLength
DNA bindingi45 – 218T-boxPROSITE-ProRule annotationAdd BLAST174

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, DNA-binding, Repressor
Biological processTranscription, Transcription regulation

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
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000143178.12
HGNCiHGNC:11596 TBX19
MIMi604614 gene
neXtProtiNX_O60806

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

ACTH deficiency, isolated (IAD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive 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.
See also OMIM:201400
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_018387128S → F in IAD. 1 PublicationCorresponds to variant dbSNP:rs74315377EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi9095
MalaCardsiTBX19
MIMi201400 phenotype
OpenTargetsiENSG00000143178
Orphaneti199296 Congenital isolated ACTH deficiency
PharmGKBiPA36359

Polymorphism and mutation databases

BioMutaiTBX19

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001844491 – 448T-box transcription factor TBX19Add BLAST448

Proteomic databases

PaxDbiO60806
PeptideAtlasiO60806
PRIDEiO60806
ProteomicsDBi49601

PTM databases

iPTMnetiO60806
PhosphoSitePlusiO60806

Expressioni

Gene expression databases

BgeeiENSG00000143178
CleanExiHS_TBX19
ExpressionAtlasiO60806 baseline and differential
GenevisibleiO60806 HS

Organism-specific databases

HPAiHPA005800
HPA072686

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

IntActiO60806, 11 interactors
STRINGi9606.ENSP00000356795

Structurei

3D structure databases

ProteinModelPortaliO60806
SMRiO60806
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiKOG3585 Eukaryota
ENOG410XSTS LUCA
GeneTreeiENSGT00900000140847
HOGENOMiHOG000063663
HOVERGENiHBG004599
InParanoidiO60806
KOiK10184
OMAiQHVAYSH
OrthoDBiEOG091G05OC
PhylomeDBiO60806
TreeFamiTF106341

Family and domain databases

CDDicd00182 TBOX, 1 hit
Gene3Di2.60.40.820, 1 hit
InterProiView protein in InterPro
IPR008967 p53-like_TF_DNA-bd
IPR036960 T-box_sf
IPR002070 TF_Brachyury
IPR001699 TF_T-box
IPR018186 TF_T-box_CS
PANTHERiPTHR11267 PTHR11267, 1 hit
PfamiView protein in Pfam
PF00907 T-box, 1 hit
PRINTSiPR00938 BRACHYURY
PR00937 TBOX
SMARTiView protein in SMART
SM00425 TBOX, 1 hit
SUPFAMiSSF49417 SSF49417, 1 hit
PROSITEiView protein in PROSITE
PS01283 TBOX_1, 1 hit
PS01264 TBOX_2, 1 hit
PS50252 TBOX_3, 1 hit

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_018387128S → F in IAD. 1 PublicationCorresponds to variant dbSNP:rs74315377EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ010277 mRNA Translation: CAB37936.1
AL009051 Genomic DNA No translation available.
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.5 human

Similar proteinsi

Entry informationi

Entry nameiTBX19_HUMAN
AccessioniPrimary (citable) accession number: O60806
Secondary accession number(s): Q52M53
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: August 1, 1999
Last modified: June 20, 2018
This is version 152 of the entry and version 3 of the sequence. See 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

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