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

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Gene: TBX1 (T-box transcription factor 1) Canis lupus familiaris
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Symbol: TBX1
Name: T-box transcription factor 1
RGD ID: 12304761
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 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
Bonobo
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: CanFam3.1 - Dog CanFam3.1 Assembly
Position:
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
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
ameloblast differentiation  (ISO)
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 DNA-templated transcription  (IEA)
regulation of transcription by RNA polymerase II  (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
nucleus  (IEA)

References
Additional References at PubMed
PMID:22301074   PMID:30032202  


Genomics

Comparative Map Data
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
(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
(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
(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
58 total Variants

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 reproductive system respiratory system adipose tissue
High
Medium 2 5 6 2 8 10 4
Low 3 3 11 4 4 4 4 8 2
Below cutoff 2 6 2 2 2 4

Sequence


RefSeq Acc Id: ENSCAFT00000023037   ⟹   ENSCAFP00000021398
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1 Ensembl2629,528,878 - 29,532,784 (-)Ensembl
RefSeq Acc Id: ENSCAFT00845051622   ⟹   ENSCAFP00845040505
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0 Ensembl2630,929,923 - 30,937,825 (-)Ensembl
RefSeq Acc Id: ENSCAFT00845051655   ⟹   ENSCAFP00845040529
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0 Ensembl2630,931,363 - 30,939,205 (-)Ensembl
RefSeq Acc Id: ENSCAFT00845051812   ⟹   ENSCAFP00845040654
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0 Ensembl2630,932,031 - 30,939,205 (-)Ensembl
RefSeq Acc Id: XM_038437527   ⟹   XP_038293455
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.02630,932,031 - 30,939,925 (-)NCBI
RefSeq Acc Id: XM_038459380   ⟹   XP_038315308
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
Dog10K_Boxer_Tasha2629,486,387 - 29,494,624 (-)NCBI
RefSeq Acc Id: XM_038512393   ⟹   XP_038368321
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
UMICH_Zoey_3.12628,979,960 - 28,987,853 (-)NCBI
RefSeq Acc Id: XM_038575893   ⟹   XP_038431821
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
UU_Cfam_GSD_1.02629,690,874 - 29,698,814 (-)NCBI
RefSeq Acc Id: XM_038640105   ⟹   XP_038496033
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
UNSW_CanFamBas_1.02628,605,398 - 28,613,298 (-)NCBI
RefSeq Acc Id: ENSCAFP00000021398   ⟸   ENSCAFT00000023037
RefSeq Acc Id: XP_038368321   ⟸   XM_038512393
RefSeq Acc Id: XP_038496033   ⟸   XM_038640105
RefSeq Acc Id: XP_038293455   ⟸   XM_038437527
- UniProtKB: A0A8I3Q145 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038315308   ⟸   XM_038459380
- UniProtKB: A0A8C0NVF1 (UniProtKB/TrEMBL),   A0A8P0NGC9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038431821   ⟸   XM_038575893
- UniProtKB: A0A8I3Q145 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSCAFP00845040654   ⟸   ENSCAFT00845051812
RefSeq Acc Id: ENSCAFP00845040529   ⟸   ENSCAFT00845051655
RefSeq Acc Id: ENSCAFP00845040505   ⟸   ENSCAFT00845051622
Protein Domains
T-box


Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSCAFG00000014503 Ensembl
  ENSCAFG00000050590 UniProtKB/TrEMBL
  ENSCAFG00030020434 UniProtKB/TrEMBL
  ENSCAFG00845029160 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSCAFT00000023037.6 UniProtKB/TrEMBL
  ENSCAFT00000109718.1 UniProtKB/TrEMBL
  ENSCAFT00000110203.1 UniProtKB/TrEMBL
  ENSCAFT00030037671.1 UniProtKB/TrEMBL
  ENSCAFT00845051622.1 UniProtKB/TrEMBL
  ENSCAFT00845051655.1 UniProtKB/TrEMBL
  ENSCAFT00845051812 ENTREZGENE
  ENSCAFT00845051812.1 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_1 UniProtKB/TrEMBL
  TBOX_2 UniProtKB/TrEMBL
  TBOX_3 UniProtKB/TrEMBL
SMART TBOX UniProtKB/TrEMBL
Superfamily-SCOP SSF49417 UniProtKB/TrEMBL
UniProt A0A8C0NVF1 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I3Q145 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I3QIV7_CANLF UniProtKB/TrEMBL
  A0A8I3QIX5_CANLF UniProtKB/TrEMBL
  A0A8P0NGC9 ENTREZGENE
  A0A8P0PP59_CANLF UniProtKB/TrEMBL
  A0A8P0PSF0_CANLF UniProtKB/TrEMBL
  H8WG16_CANLF UniProtKB/TrEMBL
UniProt Secondary A0A8P0NGC9 UniProtKB/TrEMBL
VGNC ID VGNC:52972 ENTREZGENE


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