TBX1 (T-box transcription factor 1) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: TBX1 (T-box transcription factor 1) Pan paniscus
Analyze
Symbol: TBX1
Name: T-box transcription factor 1
RGD ID: 11957919
Description: ENCODES a protein that exhibits DNA-binding transcription activator activity, RNA polymerase II-specific (ortholog); DNA-binding transcription factor activity (ortholog); protein homodimerization activity (ortholog); INVOLVED IN ameloblast differentiation (ortholog); angiogenesis (ortholog); anterior/posterior pattern specification (ortholog); ASSOCIATED WITH 22q11 Deletion Syndrome (ortholog); acute kidney failure (ortholog); acute myocardial infarction (ortholog); FOUND IN chromatin (inferred); nucleus (inferred)
Type: protein-coding
RefSeq Status: MODEL
Previously known as: T-box 1; T-box transcription factor TBX1
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: Mhudiblu_PPA_v0 - Bonobo Mhudiblu_PPA_v0 Assembly
Position:
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22329,386,796 - 29,405,593 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12231,934,451 - 31,954,427 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0222,521,080 - 2,541,267 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12218,192,954 - 18,213,786 (+)NCBIpanpan1.1PanPan1.1panPan2
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
ameloblast differentiation  (ISO)
anatomical structure morphogenesis  (IEA)
angiogenesis  (ISO)
anterior/posterior pattern specification  (ISO)
aorta morphogenesis  (ISO)
artery morphogenesis  (ISO)
blood vessel development  (ISO)
blood vessel morphogenesis  (ISO)
blood vessel remodeling  (ISO)
cell fate specification  (IEA)
cell population proliferation  (ISO)
cellular response to fibroblast growth factor stimulus  (ISO)
cellular response to retinoic acid  (ISO)
cochlea morphogenesis  (ISO)
coronary artery morphogenesis  (ISO)
cranial skeletal system development  (ISO)
determination of left/right symmetry  (ISO)
ear morphogenesis  (ISO)
embryonic cranial skeleton morphogenesis  (ISO)
embryonic viscerocranium morphogenesis  (ISO)
enamel mineralization  (ISO)
epithelial cell proliferation  (ISO)
face morphogenesis  (ISO)
hard palate development  (ISO)
heart development  (ISO)
heart morphogenesis  (ISO)
inner ear morphogenesis  (ISO)
lymph vessel development  (ISO)
mesenchymal cell apoptotic process  (ISO)
mesenchymal cell proliferation  (ISO)
mesoderm development  (ISO)
middle ear morphogenesis  (ISO)
muscle cell fate commitment  (ISO)
muscle organ development  (ISO)
muscle organ morphogenesis  (ISO)
muscle tissue morphogenesis  (ISO)
negative regulation of cell differentiation  (ISO)
negative regulation of mesenchymal cell apoptotic process  (ISO)
negative regulation of muscle cell apoptotic process  (ISO)
negative regulation of receptor signaling pathway via JAK-STAT  (ISO)
negative regulation of transcription by RNA polymerase II  (ISO)
neural crest cell migration  (ISO)
neuron fate specification  (ISO)
odontogenesis of dentin-containing tooth  (ISO)
otic vesicle morphogenesis  (ISO)
outer ear morphogenesis  (ISO)
outflow tract morphogenesis  (ISO)
outflow tract septum morphogenesis  (ISO)
parathyroid gland development  (ISO)
pattern specification process  (ISO)
pharyngeal system development  (ISO)
positive regulation of cardiac muscle cell proliferation  (ISO)
positive regulation of cell cycle G1/S phase transition  (ISO)
positive regulation of cell population proliferation  (ISO)
positive regulation of DNA-templated transcription  (IEA,ISO)
positive regulation of epithelial cell proliferation  (ISO)
positive regulation of gene expression  (ISO)
positive regulation of MAPK cascade  (ISO)
positive regulation of mesenchymal cell proliferation  (ISO)
positive regulation of protein phosphorylation  (ISO)
positive regulation of secondary heart field cardioblast proliferation  (ISO)
positive regulation of tongue muscle cell differentiation  (ISO)
positive regulation of transcription by RNA polymerase II  (ISO)
regulation of animal organ morphogenesis  (ISO)
regulation of transcription by RNA polymerase II  (IEA,ISO)
retinoic acid receptor signaling pathway  (ISO)
semicircular canal morphogenesis  (ISO)
sensory perception of sound  (ISO)
social behavior  (ISO)
soft palate development  (ISO)
somatic stem cell population maintenance  (ISO)
thymus development  (ISO)
thyroid gland development  (ISO)
tongue morphogenesis  (ISO)
vagus nerve morphogenesis  (ISO)

Cellular Component
chromatin  (IEA)
nucleus  (IEA)

References
Additional References at PubMed
PMID:22301074   PMID:30032202  


Genomics

Comparative Map Data
TBX1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22329,386,796 - 29,405,593 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12231,934,451 - 31,954,427 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0222,521,080 - 2,541,267 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12218,192,954 - 18,213,786 (+)NCBIpanpan1.1PanPan1.1panPan2
TBX1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382219,756,703 - 19,783,593 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2219,756,703 - 19,783,593 (+)EnsemblGRCh38hg38GRCh38
GRCh372219,744,226 - 19,771,116 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362218,124,226 - 18,151,116 (+)NCBINCBI36Build 36hg18NCBI36
Build 342218,118,779 - 18,129,409NCBI
Celera223,596,280 - 3,623,183 (+)NCBICelera
Cytogenetic Map22q11.21NCBI
HuRef223,364,192 - 3,390,621 (+)NCBIHuRef
CHM1_12219,744,073 - 19,770,823 (+)NCBICHM1_1
T2T-CHM13v2.02220,133,557 - 20,160,463 (+)NCBIT2T-CHM13v2.0
Tbx1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391618,399,729 - 18,409,412 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1618,399,729 - 18,409,421 (-)EnsemblGRCm39 Ensembl
GRCm381618,580,979 - 18,590,671 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1618,580,979 - 18,590,671 (-)EnsemblGRCm38mm10GRCm38
MGSCv371618,581,806 - 18,587,062 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361618,495,276 - 18,500,532 (-)NCBIMGSCv36mm8
Celera1619,155,983 - 19,161,240 (-)NCBICelera
Cytogenetic Map16A3NCBI
cM Map1611.51NCBI
Tbx1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81195,913,610 - 95,923,392 (+)NCBIGRCr8
mRatBN7.21182,409,275 - 82,419,058 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1182,409,275 - 82,418,380 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1191,138,847 - 91,147,990 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01183,800,048 - 83,809,194 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01182,853,569 - 82,862,708 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01186,552,022 - 86,561,647 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1186,552,022 - 86,560,969 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01189,651,955 - 89,661,553 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41184,400,980 - 84,410,631 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11184,445,104 - 84,451,228 (+)NCBI
Celera1181,184,983 - 81,193,848 (+)NCBICelera
Cytogenetic Map11q23NCBI
Tbx1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544218,319,762 - 18,325,337 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544218,320,674 - 18,327,062 (-)NCBIChiLan1.0ChiLan1.0
TBX1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12629,529,071 - 29,533,240 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2629,528,878 - 29,532,784 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2629,486,387 - 29,494,624 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02630,932,031 - 30,939,925 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2630,929,923 - 30,939,205 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12628,979,960 - 28,987,853 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02628,605,398 - 28,613,298 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02629,690,874 - 29,698,814 (-)NCBIUU_Cfam_GSD_1.0
Tbx1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118139,083,586 - 139,092,022 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366193,664,468 - 3,670,525 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366193,662,567 - 3,670,470 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TBX1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1451,289,321 - 51,296,725 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11451,289,376 - 51,297,110 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
TBX1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1195,980,114 - 5,986,313 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl195,980,587 - 5,987,244 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666085941,518 - 947,925 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tbx1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624747388,904 - 395,098 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624747386,763 - 395,515 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2


Expression

RNA-SEQ Expression


Sequence


RefSeq Acc Id: XM_034948966   ⟹   XP_034804857
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v22329,386,796 - 29,393,356 (+)NCBI
NHGRI_mPanPan12231,934,451 - 31,941,011 (+)NCBI
Mhudiblu_PPA_v0222,521,080 - 2,527,637 (+)NCBI
RefSeq Acc Id: XM_034948967   ⟹   XP_034804858
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v22329,386,816 - 29,405,593 (+)NCBI
NHGRI_mPanPan12231,934,502 - 31,954,427 (+)NCBI
Mhudiblu_PPA_v0222,521,123 - 2,541,267 (+)NCBI
Protein Sequences
Protein RefSeqs XP_034804857 (Get FASTA)   NCBI Sequence Viewer  
  XP_034804858 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSPPAP00000018792.1
  ENSPPAP00000018795.1
RefSeq Acc Id: XP_034804857   ⟸   XM_034948966
- Peptide Label: isoform X1
RefSeq Acc Id: XP_034804858   ⟸   XM_034948967
- Peptide Label: isoform X2
Protein Domains
T-box


Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSPPAG00000032550 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSPPAT00000041534.1 UniProtKB/TrEMBL
  ENSPPAT00000041537.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.820 UniProtKB/TrEMBL
InterPro p53-like_TF_DNA-bd UniProtKB/TrEMBL
  T-box_DNA-bd UniProtKB/TrEMBL
  T-box_sf UniProtKB/TrEMBL
  TF_T-box UniProtKB/TrEMBL
  TF_T-box_CS UniProtKB/TrEMBL
NCBI Gene TBX1 ENTREZGENE
PANTHER PTHR11267 UniProtKB/TrEMBL
  T-BOX TRANSCRIPTION FACTOR TBX1 UniProtKB/TrEMBL
Pfam T-box UniProtKB/TrEMBL
PRINTS TBOX UniProtKB/TrEMBL
PROSITE TBOX_2 UniProtKB/TrEMBL
  TBOX_3 UniProtKB/TrEMBL
SMART TBOX UniProtKB/TrEMBL
Superfamily-SCOP SSF49417 UniProtKB/TrEMBL
UniProt A0A2R9AN47_PANPA UniProtKB/TrEMBL
  A0A2R9ASP2_PANPA UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-06-11 TBX1  T-box transcription factor 1  TBX1  T-box 1  Symbol and/or name change 5135510 APPROVED