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Protein

T-box brain protein 1

Gene

TBR1

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

Functioni

Probable transcriptional regulator involved in developmental processes. Required for normal brain development.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi213 – 393T-boxPROSITE-ProRule annotationAdd BLAST181

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
T-box brain protein 1
Short name:
T-brain-1
Short name:
TBR-1
Alternative name(s):
TES-56
Gene namesi
Name:TBR1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000136535.14
HGNCiHGNC:11590 TBR1
MIMi604616 gene
neXtProtiNX_Q16650

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

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi10716
MalaCardsiTBR1
OpenTargetsiENSG00000136535
PharmGKBiPA36354

Polymorphism and mutation databases

BioMutaiTBR1
DMDMi2501122

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001844571 – 682T-box brain protein 1Add BLAST682

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei408PhosphothreonineBy similarity1
Modified residuei410PhosphoserineBy similarity1
Modified residuei594PhosphoserineBy similarity1
Modified residuei641PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ16650
PeptideAtlasiQ16650
PRIDEiQ16650

PTM databases

iPTMnetiQ16650
PhosphoSitePlusiQ16650

Expressioni

Tissue specificityi

Brain.

Gene expression databases

BgeeiENSG00000136535
CleanExiHS_TBR1
ExpressionAtlasiQ16650 baseline and differential
GenevisibleiQ16650 HS

Organism-specific databases

HPAiHPA051256

Interactioni

Subunit structurei

Part of a complex containing CASK, TBR1 and TSPYL2; may modulate gene expression in response to neuronal synaptic activity.By similarity

Protein-protein interaction databases

BioGridi115942, 3 interactors
IntActiQ16650, 6 interactors
MINTiQ16650
STRINGi9606.ENSP00000374205

Structurei

3D structure databases

ProteinModelPortaliQ16650
SMRiQ16650
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi569 – 573Poly-Ala5

Phylogenomic databases

eggNOGiKOG3585 Eukaryota
ENOG410XSTS LUCA
GeneTreeiENSGT00900000140847
HOGENOMiHOG000218633
HOVERGENiHBG000578
InParanoidiQ16650
KOiK10174
OMAiGCDIDRL
OrthoDBiEOG091G0PQQ
PhylomeDBiQ16650
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
IPR032385 T-box_assoc
IPR036960 T-box_sf
IPR001699 TF_T-box
IPR018186 TF_T-box_CS
PANTHERiPTHR11267 PTHR11267, 1 hit
PfamiView protein in Pfam
PF00907 T-box, 1 hit
PF16176 T-box_assoc, 1 hit
PRINTSiPR00937 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

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q16650-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MQLEHCLSPS IMLSKKFLNV SSSYPHSGGS ELVLHDHPII STTDNLERSS
60 70 80 90 100
PLKKITRGMT NQSDTDNFPD SKDSPGDVQR SKLSPVLDGV SELRHSFDGS
110 120 130 140 150
AADRYLLSQS SQPQSAATAP SAMFPYPGQH GPAHPAFSIG SPSRYMAHHP
160 170 180 190 200
VITNGAYNSL LSNSSPQGYP TAGYPYPQQY GHSYQGAPFY QFSSTQPGLV
210 220 230 240 250
PGKAQVYLCN RPLWLKFHRH QTEMIITKQG RRMFPFLSFN ISGLDPTAHY
260 270 280 290 300
NIFVDVILAD PNHWRFQGGK WVPCGKADTN VQGNRVYMHP DSPNTGAHWM
310 320 330 340 350
RQEISFGKLK LTNNKGASNN NGQMVVLQSL HKYQPRLHVV EVNEDGTEDT
360 370 380 390 400
SQPGRVQTFT FPETQFIAVT AYQNTDITQL KIDHNPFAKG FRDNYDTIYT
410 420 430 440 450
GCDMDRLTPS PNDSPRSQIV PGARYAMAGS FLQDQFVSNY AKARFHPGAG
460 470 480 490 500
AGPGPGTDRS VPHTNGLLSP QQAEDPGAPS PQRWFVTPAN NRLDFAASAY
510 520 530 540 550
DTATDFAGNA ATLLSYAAAG VKALPLQAAG CTGRPLGYYA DPSGWGARSP
560 570 580 590 600
PQYCGTKSGS VLPCWPNSAA AAARMAGANP YLGEEAEGLA AERSPLPPGA
610 620 630 640 650
AEDAKPKDLS DSSWIETPSS IKSIDSSDSG IYEQAKRRRI SPADTPVSES
660 670 680
SSPLKSEVLA QRDCEKNCAK DISGYYGFYS HS
Length:682
Mass (Da):74,053
Last modified:November 1, 1997 - v1
Checksum:iE1C8D84206EFBBB5
GO
Isoform 2 (identifier: Q16650-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-287: Missing.

Note: No experimental confirmation available.
Show »
Length:395
Mass (Da):42,332
Checksum:iD47B8C24A3CD69FA
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti619S → P in BAG35462 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078646271W → R Probable disease-associated mutation found in a patient with severe intellectual disability and epilepsy. 1 Publication1
Natural variantiVAR_052264289H → Q. Corresponds to variant dbSNP:rs12994035Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0565911 – 287Missing in isoform 2. 1 PublicationAdd BLAST287

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U49250 mRNA Translation: AAA92010.1
AK297438 mRNA Translation: BAH12582.1
AK312567 mRNA Translation: BAG35462.1
AK315865 mRNA Translation: BAF98756.1
AK316161 mRNA Translation: BAH14532.1
AC009487 Genomic DNA Translation: AAY15017.1
BC029289 mRNA Translation: AAH29289.1
BC104844 mRNA Translation: AAI04845.1
BC113418 mRNA Translation: AAI13419.1
CCDSiCCDS33310.1 [Q16650-1]
RefSeqiNP_006584.1, NM_006593.3 [Q16650-1]
UniGeneiHs.210862
Hs.592557

Genome annotation databases

EnsembliENST00000389554; ENSP00000374205; ENSG00000136535 [Q16650-1]
ENST00000410035; ENSP00000387023; ENSG00000136535 [Q16650-2]
GeneIDi10716
KEGGihsa:10716
UCSCiuc002ubw.2 human [Q16650-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTBR1_HUMAN
AccessioniPrimary (citable) accession number: Q16650
Secondary accession number(s): B0AZS4
, B2R6G5, Q14DC5, Q53TH0, Q56A81
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: May 23, 2018
This is version 149 of the entry and version 1 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

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