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Protein

T-box brain protein 1

Gene

TBR1

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

Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000136535-MONOMER.

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

HGNCiHGNC:11590. TBR1.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi10716.
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. 2 interactors.
IntActiQ16650. 4 interactors.
STRINGi9606.ENSP00000374205.

Structurei

3D structure databases

ProteinModelPortaliQ16650.
SMRiQ16650.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

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

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiKOG3585. Eukaryota.
ENOG410XSTS. LUCA.
GeneTreeiENSGT00740000115029.
HOGENOMiHOG000218633.
HOVERGENiHBG000578.
InParanoidiQ16650.
KOiK10174.
OMAiDSGIFEQ.
OrthoDBiEOG091G0PQQ.
PhylomeDBiQ16650.
TreeFamiTF106341.

Family and domain databases

CDDicd00182. TBOX. 1 hit.
Gene3Di2.60.40.820. 1 hit.
InterProiIPR008967. p53-like_TF_DNA-bd.
IPR032385. T-box_assoc.
IPR001699. TF_T-box.
IPR018186. TF_T-box_CS.
[Graphical view]
PANTHERiPTHR11267. PTHR11267. 1 hit.
PfamiPF00907. T-box. 1 hit.
PF16176. T-box_assoc. 1 hit.
[Graphical view]
PRINTSiPR00937. 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]

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_052264289H → Q.Corresponds to variant rs12994035dbSNPEnsembl.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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ16650.
SMRiQ16650.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115942. 2 interactors.
IntActiQ16650. 4 interactors.
STRINGi9606.ENSP00000374205.

PTM databases

iPTMnetiQ16650.
PhosphoSitePlusiQ16650.

Polymorphism and mutation databases

BioMutaiTBR1.
DMDMi2501122.

Proteomic databases

PaxDbiQ16650.
PeptideAtlasiQ16650.
PRIDEiQ16650.

Protocols and materials databases

DNASUi10716.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi10716.
DisGeNETi10716.
GeneCardsiTBR1.
HGNCiHGNC:11590. TBR1.
HPAiHPA051256.
MIMi604616. gene.
neXtProtiNX_Q16650.
OpenTargetsiENSG00000136535.
PharmGKBiPA36354.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3585. Eukaryota.
ENOG410XSTS. LUCA.
GeneTreeiENSGT00740000115029.
HOGENOMiHOG000218633.
HOVERGENiHBG000578.
InParanoidiQ16650.
KOiK10174.
OMAiDSGIFEQ.
OrthoDBiEOG091G0PQQ.
PhylomeDBiQ16650.
TreeFamiTF106341.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000136535-MONOMER.

Miscellaneous databases

GeneWikiiTBR1.
GenomeRNAii10716.
PROiQ16650.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000136535.
CleanExiHS_TBR1.
ExpressionAtlasiQ16650. baseline and differential.
GenevisibleiQ16650. HS.

Family and domain databases

CDDicd00182. TBOX. 1 hit.
Gene3Di2.60.40.820. 1 hit.
InterProiIPR008967. p53-like_TF_DNA-bd.
IPR032385. T-box_assoc.
IPR001699. TF_T-box.
IPR018186. TF_T-box_CS.
[Graphical view]
PANTHERiPTHR11267. PTHR11267. 1 hit.
PfamiPF00907. T-box. 1 hit.
PF16176. T-box_assoc. 1 hit.
[Graphical view]
PRINTSiPR00937. 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]
ProtoNetiSearch...

Entry informationi

Entry nameiTBR1_HUMAN
AccessioniPrimary (citable) accession number: Q16650
Secondary accession number(s): B0AZS4
, B2R6G5, Q14DC5, Q53TH0, Q56A81
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: November 30, 2016
This is version 138 of the entry and version 1 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 2
    Human chromosome 2: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.