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 active in chromatin and 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: GRCr8 - GRCr8 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


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Original Reference(s)
Tbx1Rat22q11 Deletion Syndrome  ISOTbx1 (Mus musculus)155663362 RGD 
Tbx1Ratacute kidney failure  IEP 155882498mRNA:increased expression:kidney (rat)RGD 
Tbx1Ratacute myocardial infarction treatmentIEP 155882497 RGD 
Tbx1RatCardiovascular Abnormalities  ISOTbx1 (Mus musculus)11561941 RGD 
Tbx1Ratcleft palate  ISOTbx1 (Mus musculus)155631306 RGD 
Tbx1Ratcleft palate  ISOTbx1 (Mus musculus)155641231 RGD 
Tbx1Ratcleidocranial dysplasia  ISOTbx1 (Mus musculus)155641242 RGD 
Tbx1RatConductive Hearing Loss  ISOTbx1 (Mus musculus)155663349DNA:missense mutation:CDS:p.W118R (mouse)RGD 
Tbx1Ratcongenital heart disease  ISOTBX1 (Homo sapiens)155663347DNA:SNPs:intron 1: (rs5748417 and rs5748418) (human)RGD 
Tbx1Ratcongenital heart disease  ISOTBX1 (Homo sapiens)11342394DNA:nonsense mutation:CDS:p.Q277X (human)RGD 
Tbx1Ratcongenital heart disease  ISOTBX1 (Homo sapiens)155663346DNA:missense mutation:CDS:p.P190Q (human)RGD 
Tbx1Ratcongenital heart disease  ISOTBX1 (Homo sapiens)155631308mRNA and protein:decreased expression:blood (human)RGD 
Tbx1RatDiGeorge syndrome  ISOTbx1 (Mus musculus)9590333 RGD 
Tbx1RatDiGeorge syndrome  ISOTbx1 (Mus musculus)1578374 RGD 
Tbx1RatDiGeorge syndrome  ISOTbx1 (Mus musculus)155641238 RGD 
Tbx1Ratepilepsy  ISOTBX1 (Homo sapiens)155641234DNA:frameshift mutation:CDS:p.G387AfsX73 (human)RGD 
Tbx1RatHypocalcemia  ISOTBX1 (Homo sapiens)155641234DNA:frameshift mutation:CDS:p.G387AfsX73 (human)RGD 
Tbx1Rathypoparathyroidism  ISOTBX1 (Homo sapiens)155641234DNA:frameshift mutation:CDS:p.G387AfsX73 (human)RGD 
Tbx1Ratsensorineural hearing loss  ISOTBX1 (Homo sapiens)155641234DNA:frameshift mutation:CDS:p.G387AfsX73 (human)RGD 
Tbx1Ratvelocardiofacial syndrome  ISOTBX1 (Homo sapiens)155641243 RGD 
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Tbx1Ratautism spectrum disorder  ISOTBX1 (Homo sapiens)8554872ClinVar Annotator: match by term: Autism spectrum disorderClinVarPMID:25741868 and PMID:27569545
Tbx1Ratautistic disorder  ISOTBX1 (Homo sapiens)8554872ClinVar Annotator: match by term: AutismClinVarPMID:21681106 and PMID:30208311
Tbx1Ratchromosome 22q11.2 deletion syndrome, distal  ISOTBX1 (Homo sapiens)8554872ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome and distalClinVarPMID:31690835
Tbx1Ratchromosome 22q11.2 microduplication syndrome  ISOTBX1 (Homo sapiens)8554872ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndromeClinVarPMID:25741868 and PMID:31690835
Tbx1RatConotruncal Cardiac Defects  ISOTBX1 (Homo sapiens)8554872ClinVar more ...ClinVarPMID:11748311 more ...
Tbx1RatDiGeorge syndrome  ISOTBX1 (Homo sapiens)8554872ClinVar more ...ClinVarPMID:11239417 more ...
Tbx1RatDiGeorge syndrome  ISOTBX1 (Homo sapiens)8554872ClinVar more ...ClinVarPMID:11239417 more ...
Tbx1RatDiGeorge syndrome  ISOTBX1 (Homo sapiens)8554872ClinVar more ...ClinVarPMID:11239417 more ...
Tbx1Ratdilated cardiomyopathy  ISOTBX1 (Homo sapiens)8554872ClinVar Annotator: match by term: Primary dilated cardiomyopathyClinVarPMID:28492532
Tbx1Ratepilepsy  ISOTBX1 (Homo sapiens)8554872ClinVar Annotator: match by term: EpilepsyClinVar 
Tbx1Ratgenetic disease  ISOTBX1 (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 
Tbx1Rathemorrhagic disease  ISOTBX1 (Homo sapiens)8554872ClinVar Annotator: match by term: Abnormal bleedingClinVarPMID:25741868 and PMID:31064749
Tbx1Rathypoplastic left heart syndrome  ISOTBX1 (Homo sapiens)8554872ClinVar Annotator: match by term: Hypoplastic left heart syndromeClinVarPMID:28492532
Tbx1Ratimmunodeficiency 51  ISOTBX1 (Homo sapiens)8554872ClinVar Annotator: match by term: CANDIDIASIS more ...ClinVarPMID:24552284 more ...
Tbx1Ratintellectual disability  ISOTBX1 (Homo sapiens)8554872ClinVar Annotator: match by term: Intellectual disabilityClinVar 
Tbx1RatKBG syndrome  ISOTBX1 (Homo sapiens)8554872ClinVar Annotator: match by term: KBG syndromeClinVar 
Tbx1Ratmegacolon  ISOTBX1 (Homo sapiens)8554872ClinVar Annotator: match by term: MegacolonClinVarPMID:21681106
Tbx1RatNeurodevelopmental Disorders  ISOTBX1 (Homo sapiens)8554872ClinVar Annotator: match by term: Neurodevelopmental disorderClinVarPMID:25741868
Tbx1RatPolyarteritis Nodosa, Childhood-Onset  ISOTBX1 (Homo sapiens)8554872ClinVar Annotator: match by term: VASCULITIS more ...ClinVarPMID:24552284 more ...
Tbx1Ratprimary immunodeficiency disease  ISOTBX1 (Homo sapiens)8554872ClinVar Annotator: match by term: Inherited Immunodeficiency DiseasesClinVarPMID:25741868
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Tbx1Ratbasal cell carcinoma  ISOTBX1 (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTDPMID:36428691
Tbx1Ratcongenital heart disease  ISOTBX1 (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTDPMID:17000704
Tbx1RatCraniofacial Abnormalities  ISOTBX1 (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTDPMID:15190012 and PMID:17000704
Tbx1RatDiGeorge syndrome  ISOTBX1 (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTDPMID:15190012 more ...
Tbx1Ratpolycystic ovary syndrome  ISOTBX1 (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTDPMID:21411543
Tbx1Rattetralogy of Fallot  ISOTBX1 (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTDPMID:25093829
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Tbx1Ratautism spectrum disorder  ISSTbx1 (Mus musculus)13592920 MouseDO 
Tbx1RatDiGeorge syndrome  ISSTbx1 (Mus musculus)13592920OMIM:188400MouseDO 
Tbx1Ratotitis media  ISSTbx1 (Mus musculus)13592920OMIM:166760MouseDO 
Tbx1Ratvelocardiofacial syndrome  ISSTbx1 (Mus musculus)13592920OMIM:192430MouseDO 

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Tbx1Rat1,2-dimethylhydrazine increases expressionISOTbx1 (Mus musculus)64804641 and 2-Dimethylhydrazine results in increased expression of TBX1 mRNACTDPMID:22206623
Tbx1Rat2,3,7,8-tetrachlorodibenzodioxine affects expressionISOTbx1 (Mus musculus)6480464Tetrachlorodibenzodioxin affects the expression of TBX1 mRNACTDPMID:24058054
Tbx1Rat2,3,7,8-tetrachlorodibenzodioxine decreases expressionISOTbx1 (Mus musculus)6480464Tetrachlorodibenzodioxin results in decreased expression of TBX1 mRNACTDPMID:21354282
Tbx1Rat3-isobutyl-1-methyl-7H-xanthine multiple interactionsISOTbx1 (Mus musculus)6480464[licarin A affects the susceptibility to [INS protein co-treated with 1-Methyl-3-isobutylxanthine co-treated with Dexamethasone]] which results in increased expression of TBX1 mRNACTDPMID:29288687
Tbx1Rat4,4'-sulfonyldiphenol decreases expressionISOTBX1 (Homo sapiens)6480464bisphenol S results in decreased expression of TBX1 mRNACTDPMID:27685785
Tbx1Rat4,4'-sulfonyldiphenol increases expressionISOTbx1 (Mus musculus)6480464bisphenol S results in increased expression of TBX1 mRNACTDPMID:30951980
Tbx1Rat6-propyl-2-thiouracil increases expressionEXP 6480464Propylthiouracil results in increased expression of TBX1 mRNACTDPMID:22504374
Tbx1Rat6-propyl-2-thiouracil decreases expressionEXP 6480464Propylthiouracil results in decreased expression of TBX1 mRNACTDPMID:24780913
Tbx1Ratacrylamide increases expressionISOTBX1 (Homo sapiens)6480464Acrylamide results in increased expression of TBX1 mRNACTDPMID:32763439
Tbx1Rataflatoxin B1 increases methylationISOTBX1 (Homo sapiens)6480464Aflatoxin B1 results in increased methylation of TBX1 polyA tailCTDPMID:30157460
Tbx1Ratall-trans-retinoic acid affects abundanceISOTbx1 (Mus musculus)6480464TBX1 gene mutant form affects the abundance of TretinoinCTDPMID:16399080
Tbx1Ratall-trans-retinoic acid decreases expressionISOTBX1 (Homo sapiens)6480464Tretinoin results in decreased expression of TBX1 mRNACTDPMID:33167477
Tbx1Ratall-trans-retinoic acid multiple interactionsISOTBX1 (Homo sapiens)6480464[Chir 99021 co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide co-treated with Tretinoin] results in increased expression of BRACHYURY mRNACTDPMID:31711903
Tbx1Ratall-trans-retinoic acid increases expressionISOTBX1 (Homo sapiens)6480464Tretinoin results in increased expression of TBX1 mRNACTDPMID:21934132
Tbx1Ratall-trans-retinoic acid multiple interactionsISOTbx1 (Mus musculus)6480464[CRKL gene mutant form co-treated with TBX1 gene mutant form] affects the abundance of TretinoinCTDPMID:16399080
Tbx1Ratalpha-Zearalanol multiple interactionsEXP 6480464[Zeranol co-treated with perfluorooctanoic acid] results in decreased expression of TBX1 mRNACTDPMID:35163327
Tbx1Ratbenzo[a]pyrene decreases expressionISOTbx1 (Mus musculus)6480464Benzo(a)pyrene results in decreased expression of TBX1 mRNACTDPMID:22228805 and PMID:27195522
Tbx1Ratbenzo[a]pyrene affects methylationISOTBX1 (Homo sapiens)6480464Benzo(a)pyrene affects the methylation of TBX1 polyA tailCTDPMID:30157460
Tbx1Ratbenzo[a]pyrene decreases methylationISOTBX1 (Homo sapiens)6480464Benzo(a)pyrene results in decreased methylation of TBX1 promoterCTDPMID:27901495
Tbx1Ratbis(2-chloroethyl) sulfide decreases expressionISOTbx1 (Mus musculus)6480464Mustard Gas results in decreased expression of TBX1 mRNACTDPMID:15674843

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Biological Process
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Tbx1Ratameloblast differentiation acts_upstream_of_or_withinISOTbx1 (Mus musculus)1624291MGI:2179136 PMID:19233155 and PMID:20816801RGDPMID:19233155 and PMID:20816801
Tbx1Ratangiogenesis involved_inISSUniProtKB:P703231600115GO_REF:0000024UniProtGO_REF:0000024
Tbx1Ratangiogenesis acts_upstream_of_or_withinISOTbx1 (Mus musculus)1624291MGI:2179136 PMID:11971873RGDPMID:11971873
Tbx1Ratanterior/posterior pattern specification involved_inISSUniProtKB:P703231600115GO_REF:0000024UniProtGO_REF:0000024
Tbx1Ratanterior/posterior pattern specification acts_upstream_of_or_withinISOTbx1 (Mus musculus)1624291MGI:104686 more ...RGDPMID:15084464 and PMID:16399080
Tbx1Rataorta morphogenesis involved_inISSUniProtKB:P703231600115GO_REF:0000024UniProtGO_REF:0000024
Tbx1Rataorta morphogenesis acts_upstream_of_or_withinISOTbx1 (Mus musculus)1624291MGI:102780 more ...RGDPMID:17916582 and PMID:21364285
Tbx1Ratartery morphogenesis involved_inISSUniProtKB:P703231600115GO_REF:0000024UniProtGO_REF:0000024
Tbx1Ratartery morphogenesis acts_upstream_of_or_withinISOTbx1 (Mus musculus)1624291MGI:2179190 more ...RGDPMID:11242110 more ...
Tbx1Ratblood vessel development involved_inISSUniProtKB:P703231600115GO_REF:0000024UniProtGO_REF:0000024
Tbx1Ratblood vessel development acts_upstream_of_or_withinISOTbx1 (Mus musculus)1624291MGI:104686 more ...RGDPMID:11242049 more ...
Tbx1Ratblood vessel morphogenesis involved_inISSUniProtKB:P703231600115GO_REF:0000024UniProtGO_REF:0000024
Tbx1Ratblood vessel morphogenesis acts_upstream_of_or_withinISOTbx1 (Mus musculus)1624291MGI:2179191 PMID:11239417RGDPMID:11239417
Tbx1Ratblood vessel remodeling acts_upstream_of_or_withinISOTbx1 (Mus musculus)1624291MGI:1099809 more ...RGDPMID:17000704
Tbx1Ratcell fate specification involved_inISSUniProtKB:P703231600115GO_REF:0000024UniProtGO_REF:0000024
Tbx1Ratcell fate specification involved_inIBAFB:FBgn0261963 more ...1600115GO_REF:0000033GO_CentralGO_REF:0000033
Tbx1Ratcell population proliferation involved_inISSUniProtKB:P703231600115GO_REF:0000024UniProtGO_REF:0000024
Tbx1Ratcell population proliferation acts_upstream_ofISOTbx1 (Mus musculus)1624291MGI:3046793 PMID:16141220RGDPMID:16141220
Tbx1Ratcellular response to fibroblast growth factor stimulus involved_inISSUniProtKB:P703231600115GO_REF:0000024UniProtGO_REF:0000024
Tbx1Ratcellular response to fibroblast growth factor stimulus involved_inISOTbx1 (Mus musculus)1624291 PMID:20807544RGDPMID:20807544
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Cellular Component

  
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Tbx1Ratchromatin is_active_inIBAMGI:102539 more ...1600115GO_REF:0000033GO_CentralGO_REF:0000033
Tbx1Ratnucleus located_inISOTbx1 (Mus musculus)1624291 PMID:15703190 more ...RGDPMID:15703190 more ...
Tbx1Ratnucleus located_inIEAUniRule:UR0004007021600115GO_REF:0000104UniProtGO_REF:0000104
Tbx1Ratnucleus located_inIEAUniProtKB-SubCell:SL-01911600115GO_REF:0000044UniProtGO_REF:0000044
Tbx1Ratnucleus located_inIEAUniProtKB-KW:KW-05391600115GO_REF:0000043UniProtGO_REF:0000043
Tbx1Ratnucleus is_active_inIBAFB:FBgn0000179 more ...1600115GO_REF:0000033GO_CentralGO_REF:0000033
Tbx1Ratnucleus located_inIEAInterPro:IPR018186 and InterPro:IPR0369601600115GO_REF:0000002InterProGO_REF:0000002
Tbx1Ratnucleus located_inISSUniProtKB:P703231600115GO_REF:0000024UniProtGO_REF:0000024

Molecular Function
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Tbx1RatDNA binding enablesISOTBX1 (Homo sapiens) and UniProtKB:O43435-31624291 PMID:17273972RGDPMID:17273972
Tbx1RatDNA binding enablesIEAUniRule:UR0004007021600115GO_REF:0000104UniProtGO_REF:0000104
Tbx1RatDNA binding enablesIEAUniProtKB-KW:KW-02381600115GO_REF:0000043UniProtGO_REF:0000043
Tbx1RatDNA-binding transcription activator activity, RNA polymerase II-specific enablesISOTbx1 (Mus musculus)1624291 PMID:16556915RGDPMID:16556915
Tbx1RatDNA-binding transcription factor activity NOT|enablesISOTBX1 (Homo sapiens)1624291 PMID:11111039RGDPMID:11111039
Tbx1RatDNA-binding transcription factor activity, RNA polymerase II-specific enablesIBAFB:FBgn0011723 more ...1600115GO_REF:0000033GO_CentralGO_REF:0000033
Tbx1Ratprotein binding enablesISOTBX1 (Homo sapiens)1624291UniProtKB:P57055 more ...RGDPMID:30241482 and PMID:33961781
Tbx1Ratprotein binding enablesISOTbx1 (Mus musculus)1624291PR:P97474 more ...RGDPMID:20463296 more ...
Tbx1Ratprotein homodimerization activity enablesISOTBX1 (Homo sapiens)1624291 PMID:11111039 and PMID:22095455RGDPMID:11111039 and PMID:22095455
Tbx1RatRNA polymerase II cis-regulatory region sequence-specific DNA binding enablesIBAMGI:102539 more ...1600115GO_REF:0000033GO_CentralGO_REF:0000033
Tbx1RatRNA polymerase II cis-regulatory region sequence-specific DNA binding enablesIEAInterPro:IPR0016991600115GO_REF:0000002InterProGO_REF:0000002
Tbx1RatRNA polymerase II intronic transcription regulatory region sequence-specific DNA binding enablesISOTbx1 (Mus musculus)1624291 PMID:16556915RGDPMID:16556915
Tbx1Ratsequence-specific DNA binding enablesISOTBX1 (Homo sapiens)1624291 PMID:11111039 and PMID:22095455RGDPMID:11111039 and PMID:22095455
Tbx1Ratsequence-specific double-stranded DNA binding enablesISOTBX1 (Homo sapiens)1624291 PMID:28473536RGDPMID:28473536
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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.
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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  



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 in Tbx1
30 total Variants


Assembly: mRatBN7.2
Chromosome Start Pos End Pos Reference Nucleotide Variant Nucleotide Variant Type Strain Variant Page
11 82417945 82417946 G C snv M520/NRrrcMcwi (2019NG), M520/NRrrcMcwi (2019) View more Information


Assembly: Rnor_6.0
Chromosome Start Pos End Pos Reference Nucleotide Variant Nucleotide Variant Type Strain Variant Page
11 86560534 86560535 G C snv M520/NRrrcMcwi (2019) View more Information

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.


1 to 10 of 17 rows
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
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

1 to 10 of 17 rows



alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
9 11 49 89 56 57 26 18 26 6 174 88 71 43 60 31



Ensembl 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
1 to 9 of 9 rows
Protein RefSeqs NP_001101792 (Get FASTA)   NCBI Sequence Viewer  
  NP_001402633 (Get FASTA)   NCBI Sequence Viewer  
  NP_001402634 (Get FASTA)   NCBI Sequence Viewer  
  XP_038944429 (Get FASTA)   NCBI Sequence Viewer  
  XP_063126718 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein EDL77947 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSRNOP00000002597
  ENSRNOP00000002597.4
  ENSRNOP00000102869
1 to 9 of 9 rows
RefSeq Acc Id: NP_001101792   ⟸   NM_001108322
- Peptide Label: isoform 3
- UniProtKB: D4A2E9 (UniProtKB/TrEMBL),   A6JSG0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl 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
T-box

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


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



1 to 26 of 26 rows
Database
Acc Id
Source(s)
BioCyc Gene G2FUF-20665 BioCyc
Ensembl Genes ENSRNOG00000001892 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000002597 ENTREZGENE
  ENSRNOT00000002597.6 UniProtKB/TrEMBL
  ENSRNOT00000168762 ENTREZGENE
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
1 to 26 of 26 rows


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