Gene: Tbx1

Basic information

Tag Content
Uniprot ID P70323; Q60706; Q99MP0; Q99P22;
Entrez ID 21380
Genbank protein ID AAC52696.1; AAK14407.1; AAC53106.1; AAG61088.1;
Genbank nucleotide ID NM_011532.2
Ensembl protein ID
Ensembl nucleotide ID
Gene name T-box transcription factor TBX1
Gene symbol Tbx1
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO,CLP,CLO
Developmental stage E11.5, E13.5
Data sources Manually collected
Reference 19855134; 25556186; 27933520; 11242110; 15190012; 22921202; 22371266; 16452092; 20501333; 19247433;
Functional description Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries.
Sequence
MHFSTVTRDM EAFAASSLSG LGSPSPGADP FGPREPPPPR YDPCAAVPGA PGPPPPRAYP 60
FAPAPGAAGS SAAESEGPGA SRAAAVKAPV KKNPKVASVS VQLEMKALWD EFNQLGTEMI 120
VTKAGRRMFP TFQVKLFGMD PMADYMLLMD FVPVDDKRYR YAFHSSSWLV AGKADPATPG 180
RVHYHPDSPA KGAQWMKQIV SFDKLKLTNN LLDDNGQIIL NSMHRYQPRF HVVYVDPRKD 240
SEKYAEENFK TFVFEETRFT AVTAYQNHRI TQLKIASNPF AKGFRDCDPE DWPRNHRPGA 300
LPLVSAFARS RNPVASPTQP NGSDKDAAEA RREFDRDSGP AALGDATHPP QLLARVLSPA 360
LPGPGGLVPL PGGSGGRHSP PHADLRLEAP GASEPLHHHP YKYPAAAYDH YLGAKSRPAP 420
YPLPGLRGHG YHPHAHPHAH PHHHHHPAVN PAAAAAAAAA ANVYSSAAAP PGAYDYCPR 479

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

loading...

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA bindingIBA
GO:0001102 RNA polymerase II activating transcription factor bindingIBA
GO:0001162 RNA polymerase II intronic transcription regulatory region sequence-specific DNA bindingIDA
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specificIDA
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specificIBA
GO:0003677 DNA bindingISO
GO:0005515 protein bindingIPI
GO:0042803 protein homodimerization activityISO
GO:0042803 protein homodimerization activityISS
GO:0043565 sequence-specific DNA bindingISO
GO:0043565 sequence-specific DNA bindingISS

GO:Biological Process

GO ID GO Term Evidence
GO:0000122 negative regulation of transcription by RNA polymerase IIIMP
GO:0000122 negative regulation of transcription by RNA polymerase IIIBA
GO:0001525 angiogenesisIMP
GO:0001568 blood vessel developmentIMP
GO:0001568 blood vessel developmentIGI
GO:0001569 branching involved in blood vessel morphogenesisTAS
GO:0001708 cell fate specificationIGI
GO:0001708 cell fate specificationIMP
GO:0001708 cell fate specificationIBA
GO:0001755 neural crest cell migrationIMP
GO:0001934 positive regulation of protein phosphorylationIMP
GO:0001945 lymph vessel developmentIMP
GO:0001947 heart loopingIBA
GO:0001974 blood vessel remodelingIGI
GO:0002053 positive regulation of mesenchymal cell proliferationIMP
GO:0003007 heart morphogenesisIMP
GO:0003148 outflow tract septum morphogenesisIMP
GO:0003151 outflow tract morphogenesisIMP
GO:0003151 outflow tract morphogenesisIGI
GO:0006357 regulation of transcription by RNA polymerase IIIGI
GO:0007368 determination of left/right symmetryIMP
GO:0007389 pattern specification processIMP
GO:0007389 pattern specification processIGI
GO:0007498 mesoderm developmentIMP
GO:0007507 heart developmentISO
GO:0007507 heart developmentIMP
GO:0007507 heart developmentIGI
GO:0007507 heart developmentISS
GO:0007517 muscle organ developmentIMP
GO:0007605 sensory perception of soundIMP
GO:0008283 cell population proliferationIDA
GO:0008284 positive regulation of cell population proliferationIMP
GO:0009952 anterior/posterior pattern specificationIMP
GO:0009952 anterior/posterior pattern specificationIGI
GO:0021644 vagus nerve morphogenesisIMP
GO:0030855 epithelial cell differentiationIMP
GO:0030878 thyroid gland developmentIMP
GO:0030878 thyroid gland developmentIGI
GO:0035176 social behaviorIMP
GO:0035909 aorta morphogenesisIMP
GO:0035909 aorta morphogenesisIGI
GO:0042471 ear morphogenesisIMP
GO:0042472 inner ear morphogenesisIMP
GO:0042473 outer ear morphogenesisIMP
GO:0042474 middle ear morphogenesisIMP
GO:0042475 odontogenesis of dentin-containing toothIMP
GO:0042693 muscle cell fate commitmentIMP
GO:0043410 positive regulation of MAPK cascadeIMP
GO:0043587 tongue morphogenesisIMP
GO:0044344 cellular response to fibroblast growth factor stimulusIMP
GO:0045596 negative regulation of cell differentiationIMP
GO:0045893 positive regulation of transcription, DNA-templatedISO
GO:0045893 positive regulation of transcription, DNA-templatedIDA
GO:0045944 positive regulation of transcription by RNA polymerase IIIDA
GO:0045944 positive regulation of transcription by RNA polymerase IIIGI
GO:0045944 positive regulation of transcription by RNA polymerase IIIMP
GO:0045944 positive regulation of transcription by RNA polymerase IIIBA
GO:0048384 retinoic acid receptor signaling pathwayIMP
GO:0048514 blood vessel morphogenesisIMP
GO:0048538 thymus developmentISO
GO:0048538 thymus developmentIMP
GO:0048538 thymus developmentISS
GO:0048644 muscle organ morphogenesisIGI
GO:0048701 embryonic cranial skeleton morphogenesisIMP
GO:0048703 embryonic viscerocranium morphogenesisISS
GO:0048703 embryonic viscerocranium morphogenesisISO
GO:0048752 semicircular canal morphogenesisIGI
GO:0048844 artery morphogenesisIMP
GO:0048844 artery morphogenesisIGI
GO:0050679 positive regulation of epithelial cell proliferationIMP
GO:0060017 parathyroid gland developmentISS
GO:0060017 parathyroid gland developmentISO
GO:0060023 soft palate developmentISS
GO:0060023 soft palate developmentISO
GO:0060037 pharyngeal system developmentISO
GO:0060037 pharyngeal system developmentIMP
GO:0060037 pharyngeal system developmentIGI
GO:0060037 pharyngeal system developmentISS
GO:0060325 face morphogenesisIMP
GO:0060415 muscle tissue morphogenesisIMP
GO:0060982 coronary artery morphogenesisIMP
GO:0060982 coronary artery morphogenesisTAS
GO:0070166 enamel mineralizationIMP
GO:0071300 cellular response to retinoic acidIEP
GO:0071600 otic vesicle morphogenesisIMP
GO:0072513 positive regulation of secondary heart field cardioblast proliferationIDA
GO:0090103 cochlea morphogenesisIMP
GO:0090103 cochlea morphogenesisIGI
GO:0097152 mesenchymal cell apoptotic processIMP
GO:2000027 regulation of animal organ morphogenesisIMP
GO:2000027 regulation of animal organ morphogenesisIGI
GO:2001037 positive regulation of tongue muscle cell differentiationIMP
GO:2001054 negative regulation of mesenchymal cell apoptotic processIGI

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusISO
GO:0005634 nucleusIDA
GO:0005634 nucleusIBA
GO:0005634 nucleusISS

Reactome Pathway

Reactome ID Reactome Term Evidence

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0025 Alternative splicing
KW-0217 Developmental protein
KW-0238 DNA-binding
KW-0539 Nucleus
KW-1185 Reference proteome
KW-0804 Transcription
KW-0805 Transcription regulation

Interpro

InterPro ID InterPro Term
IPR008967 p53-like_TF_DNA-bd
IPR036960 T-box_sf
IPR001699 TF_T-box
IPR018186 TF_T-box_CS

PROSITE

PROSITE ID PROSITE Term
PS01283 TBOX_1
PS01264 TBOX_2
PS50252 TBOX_3

Pfam

Pfam ID Pfam Term
PF00907 T-box

Protein-protein interaction

Protein-miRNA interaction