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Q16650

- TBR1_HUMAN

UniProt

Q16650 - TBR1_HUMAN

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Protein
T-box brain protein 1
Gene
TBR1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

Functioni

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

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi213 – 393181T-box
Add
BLAST

GO - Molecular functioni

  1. RNA polymerase II core promoter sequence-specific DNA binding Source: Ensembl
  2. sequence-specific DNA binding transcription factor activity Source: ProtInc

GO - Biological processi

  1. axon guidance Source: Ensembl
  2. brain development Source: ProtInc
  3. hindbrain development Source: Ensembl
  4. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  5. regulation of neuron projection development Source: Ensembl
  6. specification of organ identity Source: Ensembl
  7. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

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
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:11590. TBR1.

Subcellular locationi

Nucleus Reviewed prediction

GO - Cellular componenti

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

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA36354.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 682682T-box brain protein 1
PRO_0000184457Add
BLAST

Proteomic databases

PaxDbiQ16650.
PRIDEiQ16650.

PTM databases

PhosphoSiteiQ16650.

Expressioni

Tissue specificityi

Brain.

Gene expression databases

ArrayExpressiQ16650.
BgeeiQ16650.
CleanExiHS_TBR1.
GenevestigatoriQ16650.

Organism-specific databases

HPAiCAB012279.

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 interactions.
IntActiQ16650. 1 interaction.
STRINGi9606.ENSP00000374205.

Structurei

3D structure databases

ProteinModelPortaliQ16650.
SMRiQ16650. Positions 205-392.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi569 – 5735Poly-Ala

Sequence similaritiesi

Phylogenomic databases

eggNOGiNOG245070.
HOGENOMiHOG000218633.
HOVERGENiHBG000578.
InParanoidiQ16650.
KOiK10174.
OMAiMFPYPSQ.
OrthoDBiEOG7C2R14.
PhylomeDBiQ16650.
TreeFamiTF106341.

Family and domain databases

Gene3Di2.60.40.820. 1 hit.
InterProiIPR008967. p53-like_TF_DNA-bd.
IPR001699. TF_T-box.
IPR018186. TF_T-box_CS.
[Graphical view]
PANTHERiPTHR11267. PTHR11267. 1 hit.
PfamiPF00907. T-box. 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]

Sequencei

Sequence statusi: Complete.

Q16650-1 [UniParc]FASTAAdd to Basket

« Hide

MQLEHCLSPS IMLSKKFLNV SSSYPHSGGS ELVLHDHPII STTDNLERSS    50
PLKKITRGMT NQSDTDNFPD SKDSPGDVQR SKLSPVLDGV SELRHSFDGS 100
AADRYLLSQS SQPQSAATAP SAMFPYPGQH GPAHPAFSIG SPSRYMAHHP 150
VITNGAYNSL LSNSSPQGYP TAGYPYPQQY GHSYQGAPFY QFSSTQPGLV 200
PGKAQVYLCN RPLWLKFHRH QTEMIITKQG RRMFPFLSFN ISGLDPTAHY 250
NIFVDVILAD PNHWRFQGGK WVPCGKADTN VQGNRVYMHP DSPNTGAHWM 300
RQEISFGKLK LTNNKGASNN NGQMVVLQSL HKYQPRLHVV EVNEDGTEDT 350
SQPGRVQTFT FPETQFIAVT AYQNTDITQL KIDHNPFAKG FRDNYDTIYT 400
GCDMDRLTPS PNDSPRSQIV PGARYAMAGS FLQDQFVSNY AKARFHPGAG 450
AGPGPGTDRS VPHTNGLLSP QQAEDPGAPS PQRWFVTPAN NRLDFAASAY 500
DTATDFAGNA ATLLSYAAAG VKALPLQAAG CTGRPLGYYA DPSGWGARSP 550
PQYCGTKSGS VLPCWPNSAA AAARMAGANP YLGEEAEGLA AERSPLPPGA 600
AEDAKPKDLS DSSWIETPSS IKSIDSSDSG IYEQAKRRRI SPADTPVSES 650
SSPLKSEVLA QRDCEKNCAK DISGYYGFYS HS 682
Length:682
Mass (Da):74,053
Last modified:November 1, 1997 - v1
Checksum:iE1C8D84206EFBBB5
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti289 – 2891H → Q.
Corresponds to variant rs12994035 [ dbSNP | Ensembl ].
VAR_052264

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti619 – 6191S → P in BAG35462. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U49250 mRNA. Translation: AAA92010.1.
AK312567 mRNA. Translation: BAG35462.1.
AC009487 Genomic DNA. Translation: AAY15017.1.
BC029289 mRNA. Translation: AAH29289.1.
BC104844 mRNA. Translation: AAI04845.1.
BC113418 mRNA. Translation: AAI13419.1.
CCDSiCCDS33310.1.
RefSeqiNP_006584.1. NM_006593.2.
UniGeneiHs.210862.

Genome annotation databases

EnsembliENST00000389554; ENSP00000374205; ENSG00000136535.
GeneIDi10716.
KEGGihsa:10716.
UCSCiuc002ubw.1. human.

Polymorphism databases

DMDMi2501122.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U49250 mRNA. Translation: AAA92010.1 .
AK312567 mRNA. Translation: BAG35462.1 .
AC009487 Genomic DNA. Translation: AAY15017.1 .
BC029289 mRNA. Translation: AAH29289.1 .
BC104844 mRNA. Translation: AAI04845.1 .
BC113418 mRNA. Translation: AAI13419.1 .
CCDSi CCDS33310.1.
RefSeqi NP_006584.1. NM_006593.2.
UniGenei Hs.210862.

3D structure databases

ProteinModelPortali Q16650.
SMRi Q16650. Positions 205-392.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115942. 3 interactions.
IntActi Q16650. 1 interaction.
STRINGi 9606.ENSP00000374205.

PTM databases

PhosphoSitei Q16650.

Polymorphism databases

DMDMi 2501122.

Proteomic databases

PaxDbi Q16650.
PRIDEi Q16650.

Protocols and materials databases

DNASUi 10716.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000389554 ; ENSP00000374205 ; ENSG00000136535 .
GeneIDi 10716.
KEGGi hsa:10716.
UCSCi uc002ubw.1. human.

Organism-specific databases

CTDi 10716.
GeneCardsi GC02P162272.
HGNCi HGNC:11590. TBR1.
HPAi CAB012279.
MIMi 604616. gene.
neXtProti NX_Q16650.
PharmGKBi PA36354.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG245070.
HOGENOMi HOG000218633.
HOVERGENi HBG000578.
InParanoidi Q16650.
KOi K10174.
OMAi MFPYPSQ.
OrthoDBi EOG7C2R14.
PhylomeDBi Q16650.
TreeFami TF106341.

Miscellaneous databases

GeneWikii TBR1.
GenomeRNAii 10716.
NextBioi 35467577.
PROi Q16650.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q16650.
Bgeei Q16650.
CleanExi HS_TBR1.
Genevestigatori Q16650.

Family and domain databases

Gene3Di 2.60.40.820. 1 hit.
InterProi IPR008967. p53-like_TF_DNA-bd.
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 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. "T-brain-1: a homolog of Brachyury whose expression defines molecularly distinct domains within the cerebral cortex."
    Bulfone A., Smiga S.M., Shimamura K., Peterson A., Puelles L., Rubenstein J.L.R.
    Neuron 15:63-78(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Fetal brain.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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].
    Tissue: Brain.

Entry informationi

Entry nameiTBR1_HUMAN
AccessioniPrimary (citable) accession number: Q16650
Secondary accession number(s): B2R6G5
, Q14DC5, Q53TH0, Q56A81
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: September 3, 2014
This is version 117 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

External Data

Dasty 3

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