Tbx1 (T-box transcription factor 1) - Rat Genome Database

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Gene: Tbx1 (T-box transcription factor 1) Rattus norvegicus
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Symbol: Tbx1
Name: T-box transcription factor 1
RGD ID: 1307734
Description: Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II transcription regulatory region sequence-specific DNA binding activity; and protein homodimerization activity. Involved in several processes, including negative regulation of receptor signaling pathway via JAK-STAT; positive regulation of cardiac muscle cell proliferation; and positive regulation of cell cycle G1/S phase transition. Predicted to be part of chromatin. Predicted to be active in nucleus. Biomarker of acute kidney failure and acute myocardial infarction. Human ortholog(s) of this gene implicated in several diseases, including DiGeorge syndrome; congenital heart disease (multiple); hypoparathyroidism; sensorineural hearing loss; and velocardiofacial syndrome. Orthologous to human TBX1 (T-box transcription factor 1); INTERACTS WITH 6-propyl-2-thiouracil; alpha-Zearalanol; bisphenol A.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: LOC360737; T-box 1; T-box transcription factor TBX1
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
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
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

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

Cellular Component
chromatin  (IBA)
nucleus  (IBA,ISO,ISS)

References

References - curated
# Reference Title Reference Citation
1. A Novel TBX1 Variant Causing Hypoparathyroidism and Deafness. Alghamdi M, etal., J Endocr Soc. 2019 Nov 29;4(2):bvz028. doi: 10.1210/jendso/bvz028. eCollection 2020 Feb 1.
2. Inactivation of Tbx1 in the pharyngeal endoderm results in 22q11DS malformations. Arnold JS, etal., Development. 2006 Mar;133(5):977-87. doi: 10.1242/dev.02264. Epub 2006 Feb 1.
3. MicroRNA-144 Regulates Cardiomyocyte Proliferation and Apoptosis by Targeting TBX1 through the JAK2/STAT1 Pathway. Cao ML, etal., Cytogenet Genome Res. 2019;159(4):190-200. doi: 10.1159/000505143. Epub 2020 Jan 24.
4. p53 Suppression partially rescues the mutant phenotype in mouse models of DiGeorge syndrome. Caprio C and Baldini A, Proc Natl Acad Sci U S A. 2014 Sep 16;111(37):13385-90. doi: 10.1073/pnas.1401923111. Epub 2014 Sep 2.
5. Identification of a Novel ENU-Induced Mutation in Mouse Tbx1 Linked to Human DiGeorge Syndrome. Chen J, etal., Neural Plast. 2016;2016:5836143. doi: 10.1155/2016/5836143. Epub 2016 Dec 26.
6. Deletion of the T-box transcription factor gene, Tbx1, in mice induces differential expression of genes associated with cleft palate in humans. Funato N and Yanagisawa H, Arch Oral Biol. 2018 Nov;95:149-155. doi: 10.1016/j.archoralbio.2018.08.001. Epub 2018 Aug 9.
7. Loss of Tbx1 induces bone phenotypes similar to cleidocranial dysplasia. Funato N, etal., Hum Mol Genet. 2015 Jan 15;24(2):424-35. doi: 10.1093/hmg/ddu458. Epub 2014 Sep 10.
8. TBX1 protein interactions and microRNA-96-5p regulation controls cell proliferation during craniofacial and dental development: implications for 22q11.2 deletion syndrome. Gao S, etal., Hum Mol Genet. 2015 Apr 15;24(8):2330-48. doi: 10.1093/hmg/ddu750. Epub 2015 Jan 2.
9. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
10. Rat ISS GO annotations from GOA human gene data--August 2006 GOA data from the GO Consortium
11. Clinical study of prenatal ultrasonography combined with T‑box transcription factor 1 as a biomarker for the diagnosis of congenital heart disease. Guo B, etal., Mol Med Rep. 2018 May;17(5):7346-7350. doi: 10.3892/mmr.2018.8742. Epub 2018 Mar 14.
12. A Tbx1-Six1/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesis. Guo C, etal., J Clin Invest. 2011 Apr;121(4):1585-95. doi: 10.1172/JCI44630.
13. Tbx1 regulates fibroblast growth factors in the anterior heart field through a reinforcing autoregulatory loop involving forkhead transcription factors. Hu T, etal., Development. 2004 Nov;131(21):5491-502. Epub 2004 Oct 6.
14. A novel TBX1 missense mutation in patients with syndromic congenital heart defects. Jaouadi A, etal., Biochem Biophys Res Commun. 2018 May 15;499(3):563-569. doi: 10.1016/j.bbrc.2018.03.190. Epub 2018 Mar 28.
15. DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Jerome LA and Papaioannou VE, Nat Genet. 2001 Mar;27(3):286-91.
16. Increased Tbx1 expression may play a role via TGFβ-Smad2/3 signaling pathway in acute kidney injury induced by gentamicin. Jiang H, etal., Int J Clin Exp Pathol. 2014 Mar 15;7(4):1595-605. eCollection 2014.
17. Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage. Liao J, etal., Hum Mol Genet. 2004 Aug 1;13(15):1577-85. doi: 10.1093/hmg/ddh176. Epub 2004 Jun 9.
18. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
19. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
20. A Novel TBX1 Loss-of-Function Mutation Associated with Congenital Heart Disease. Pan Y, etal., Pediatr Cardiol. 2015 Oct;36(7):1400-10. doi: 10.1007/s00246-015-1173-x. Epub 2015 Apr 10.
21. GOA pipeline RGD automated data pipeline
22. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
23. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
24. Comprehensive gene review and curation RGD comprehensive gene curation
25. Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation. Stoller JZ and Epstein JA, Hum Mol Genet. 2005 Apr 1;14(7):885-92. Epub 2005 Feb 9.
26. The TBX1 Transcription Factor in Cardiac Remodeling After Myocardial Infarction. Sánchez-Más J, etal., Rev Esp Cardiol (Engl Ed). 2016 Nov;69(11):1042-1050. doi: 10.1016/j.rec.2016.04.033. Epub 2016 Jul 12.
27. MOZ regulates the Tbx1 locus, and Moz mutation partially phenocopies DiGeorge syndrome. Voss AK, etal., Dev Cell. 2012 Sep 11;23(3):652-63. doi: 10.1016/j.devcel.2012.07.010. Epub 2012 Aug 23.
28. Genetic analysis of the TBX1 gene promoter in ventricular septal defects. Wang H, etal., Mol Cell Biochem. 2012 Nov;370(1-2):53-8. doi: 10.1007/s11010-012-1397-5. Epub 2012 Jul 17.
29. Timed mutation and cell-fate mapping reveal reiterated roles of Tbx1 during embryogenesis, and a crucial function during segmentation of the pharyngeal system via regulation of endoderm expansion. Xu H, etal., Development. 2005 Oct;132(19):4387-95. Epub 2005 Sep 1.
30. Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus. Xu YJ, etal., BMC Med Genet. 2011 Dec 21;12:169. doi: 10.1186/1471-2350-12-169.
Additional References at PubMed
PMID:11111039   PMID:11239417   PMID:11242049   PMID:11971873   PMID:12913075   PMID:14585638   PMID:15064766   PMID:15084464   PMID:15175244   PMID:15385444   PMID:15652707   PMID:15843409  
PMID:16284121   PMID:16399080   PMID:16556915   PMID:16600992   PMID:16684884   PMID:16696966   PMID:16914493   PMID:17000704   PMID:17074316   PMID:17164259   PMID:17273972   PMID:17825816  
PMID:17916582   PMID:18231833   PMID:18583714   PMID:18816853   PMID:18816858   PMID:19233155   PMID:19389367   PMID:19531352   PMID:19700621   PMID:19745164   PMID:19855134   PMID:20122914  
PMID:20439995   PMID:20463296   PMID:20501333   PMID:20807544   PMID:20816801   PMID:20939858   PMID:21177346   PMID:24821700   PMID:37227215  


Genomics

Comparative Map Data
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
(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
(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
(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
(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

Variants

.
Variants in Tbx1
30 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:46
Count of miRNA genes:45
Interacting mature miRNAs:46
Transcripts:ENSRNOT00000002597
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
724554Iddm17Insulin dependent diabetes mellitus QTL 170.001blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)111897620886241447Rat
70208Niddm22Non-insulin dependent diabetes mellitus QTL 223.61blood glucose amount (VT:0000188)plasma glucose level (CMO:0000042)115980279482566553Rat
1581565Pur10Proteinuria QTL 100.0001urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)114480331882846466Rat
634339Niddm50Non-insulin dependent diabetes mellitus QTL 503.32blood glucose amount (VT:0000188)plasma glucose level (CMO:0000042)116642214886241447Rat
10450831Scl80Serum cholesterol level QTL 804.70.01blood LDL cholesterol amount (VT:0000181)blood low density lipoprotein cholesterol level (CMO:0000053)117695713183051965Rat
10058954Gmadr7Adrenal mass QTL 72.490.0049adrenal gland mass (VT:0010420)both adrenal glands wet weight to body weight ratio (CMO:0002411)116034659086241447Rat
1300135Rf19Renal function QTL 193.38blood creatinine amount (VT:0005328)creatinine clearance (CMO:0000765)114094618882566702Rat
1354656Bvd3Brain ventricular dilatation QTL 33.640.001brain ventricle morphology trait (VT:0000822)hydrocephalus severity score (CMO:0001881)116944607082846715Rat
2312566Glom20Glomerulus QTL 203.60.001kidney glomerulus morphology trait (VT:0005325)index of glomerular damage (CMO:0001135)114428575982566702Rat
1354593Stl12Serum triglyceride level QTL 123.36blood triglyceride amount (VT:0002644)serum triglyceride level (CMO:0000360)116642214886241447Rat
724563Uae10Urinary albumin excretion QTL 106urine albumin amount (VT:0002871)urine albumin level (CMO:0000130)112767241082846715Rat
724561Plsm4Polydactyly-luxate syndrome (PLS) morphotypes QTL 40.0003forelimb integrity trait (VT:0010562)front foot phalanges count (CMO:0001947)115445753486241447Rat
4889521Gluco62Glucose level QTL 622.820.001blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)115513672982993457Rat
7411658Foco27Food consumption QTL 2716.20.001eating behavior trait (VT:0001431)feed conversion ratio (CMO:0001312)115635142486241447Rat
631506Bp104Blood pressure QTL 1042.8arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)115980279482566545Rat
1581572Uae35Urinary albumin excretion QTL 350.0001urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)114480331882846466Rat
1300110Stl7Serum triglyceride level QTL 74.64blood triglyceride amount (VT:0002644)plasma triglyceride level (CMO:0000548)112952841882566702Rat


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system appendage
High
Medium 3 8
Low 3 14 6 4 2 4 8 8 10 12 29 11 8
Below cutoff 29 21 9 10 9 43 21 4

Sequence


RefSeq Acc Id: ENSRNOT00000002597   ⟹   ENSRNOP00000002597
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1182,409,275 - 82,418,380 (+)Ensembl
Rnor_6.0 Ensembl1186,552,022 - 86,560,969 (+)Ensembl
RefSeq Acc Id: NM_001108322   ⟹   NP_001101792
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81195,913,610 - 95,923,392 (+)NCBI
mRatBN7.21182,409,275 - 82,419,058 (+)NCBI
Rnor_6.01186,552,022 - 86,560,969 (+)NCBI
Rnor_5.01189,651,955 - 89,661,553 (+)NCBI
RGSC_v3.41184,400,980 - 84,410,631 (+)RGD
Celera1181,184,983 - 81,193,848 (+)RGD
Sequence:
RefSeq Acc Id: NM_001415704   ⟹   NP_001402633
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81195,915,404 - 95,923,392 (+)NCBI
mRatBN7.21182,411,069 - 82,419,058 (+)NCBI
RefSeq Acc Id: NM_001415705   ⟹   NP_001402634
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81195,917,322 - 95,923,392 (+)NCBI
mRatBN7.21182,412,987 - 82,419,058 (+)NCBI
RefSeq Acc Id: XM_039088501   ⟹   XP_038944429
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81195,917,585 - 95,923,392 (+)NCBI
mRatBN7.21182,413,248 - 82,418,097 (+)NCBI
RefSeq Acc Id: XM_063270648   ⟹   XP_063126718
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81195,915,401 - 95,923,392 (+)NCBI
RefSeq Acc Id: NP_001101792   ⟸   NM_001108322
- Peptide Label: isoform 3
- UniProtKB: D4A2E9 (UniProtKB/TrEMBL),   A6JSG0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSRNOP00000002597   ⟸   ENSRNOT00000002597
RefSeq Acc Id: XP_038944429   ⟸   XM_039088501
- Peptide Label: isoform X2
RefSeq Acc Id: NP_001402633   ⟸   NM_001415704
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001402634   ⟸   NM_001415705
- Peptide Label: isoform 2
RefSeq Acc Id: XP_063126718   ⟸   XM_063270648
- Peptide Label: isoform X1
- UniProtKB: A6JSG0 (UniProtKB/TrEMBL),   D4A2E9 (UniProtKB/TrEMBL)
Protein Domains
T-box

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-D4A2E9-F1-model_v2 AlphaFold D4A2E9 1-480 view protein structure

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen


Additional Information

Database Acc Id Source(s)
AGR Gene RGD:1307734 AgrOrtholog
BioCyc Gene G2FUF-20665 BioCyc
Ensembl Genes ENSRNOG00000001892 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000002597 ENTREZGENE
  ENSRNOT00000002597.6 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
KEGG Report rno:360737 UniProtKB/TrEMBL
NCBI Gene 360737 ENTREZGENE
PANTHER T-BOX TRANSCRIPTION FACTOR TBX1 UniProtKB/TrEMBL
  TF_T-box UniProtKB/TrEMBL
Pfam T-box UniProtKB/TrEMBL
PhenoGen Tbx1 PhenoGen
PRINTS TBOX UniProtKB/TrEMBL
PROSITE TBOX_1 UniProtKB/TrEMBL
  TBOX_2 UniProtKB/TrEMBL
  TBOX_3 UniProtKB/TrEMBL
RatGTEx ENSRNOG00000001892 RatGTEx
SMART TBOX UniProtKB/TrEMBL
Superfamily-SCOP P53_like_DNA_bnd UniProtKB/TrEMBL
UniProt A6JSG0 ENTREZGENE, UniProtKB/TrEMBL
  D4A2E9 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-08-05 Tbx1  T-box transcription factor 1  Tbx1  T-box 1  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2008-04-30 Tbx1  T-box 1   Tbx1_predicted  T-box 1 (predicted)  'predicted' is removed 2292626 APPROVED
2005-01-12 Tbx1_predicted  T-box 1 (predicted)      Symbol and Name status set to approved 70820 APPROVED