tbx1 T-box transcription factor 1 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: tbx1provided by ZNC
Official Full Name: T-box transcription factor 1provided by ZNC
Primary source: ZFIN:ZDB-GENE-030805-5
See related: Ensembl:ENSDARG00000031891 AllianceGenome:ZFIN:ZDB-GENE-030805-5
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: zgc:136724; mp:zf637-3-000616
Summary: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and protein homodimerization activity. Acts upstream of or within animal organ development; pharyngeal system development; and positive regulation of secondary heart field cardioblast proliferation. Predicted to be located in nucleus. Is expressed in several structures, including cardiovascular system; mesoderm; pharyngeal arch; shield; and vestibuloauditory system. Used to study DiGeorge syndrome and velocardiofacial syndrome. Human ortholog(s) of this gene implicated in DiGeorge syndrome; tetralogy of Fallot; and velocardiofacial syndrome. Orthologous to human TBX1 (T-box transcription factor 1). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 5

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	5	NC_007116.7 (15201823..15215479)
105	previous assembly	GRCz10 (GCF_000002035.5)	5	NC_007116.6 (14701844..14716157)

Chromosome 5 - NC_007116.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Tbx1 controls the morphogenesis of pharyngeal pouch epithelia through mesodermal Wnt11r and Fgf8a.
Title: Tbx1 controls the morphogenesis of pharyngeal pouch epithelia through mesodermal Wnt11r and Fgf8a.
Conservation of Tbx1 function in zebrafish second heart field biology.
Title: Tbx1 is required for second heart field proliferation in zebrafish.
Her9 represses neurogenic fate downstream of Tbx1 and retinoic acid signaling in the inner ear.
Title: Her9 represses neurogenic fate downstream of Tbx1 and retinoic acid signaling in the inner ear.
Tbx1 might play an essential role in the development of pharyngeal neural crest cells in zebrafish. Cardiac performance is impaired by Tbx1 knock down in zebrafish.
Title: Effect of Tbx1 knock-down on cardiac performance in zebrafish.
Retinoic acid could produce an altered Tbx1 expression pattern in zebrafish embryos.
Title: [Effect of external retinoic acid on Tbx1 gene during zebrafish embryogenesis].
This newly identified tbx1 expression pattern in cardiac regions other than the cardiac outflow tract offers a new insight into the role of the tbx1 transcription factor in cardiac development.
Title: Cloning and characterization of zebrafish tbx1.

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General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in anatomical structure morphogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cardiac muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cartilage morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell fate specification	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within chordate pharyngeal muscle development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ear development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ear morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryo development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within embryonic heart tube morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic viscerocranium morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in epithelium development	IEA Inferred from Electronic Annotation more info
involved_in heart development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within heart looping	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within heart looping	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neural crest cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neural crest cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pharyngeal system development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within pharyngeal system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pharyngeal system development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of secondary heart field cardioblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within semicircular canal morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in thymus development	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of chromatin	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: T-box transcription factor TBX1

Names: T-box 1; T-box protein 1; van gogh; vgo

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_183339.1 → NP_899182.1 T-box transcription factor TBX1

See identical proteins and their annotated locations for NP_899182.1

Status: PROVISIONAL

Source sequence(s)

AY151388

UniProtKB/Swiss-Prot

Q7ZZB6, Q8AXX2

Related

ENSDARP00000040825.5, ENSDART00000040826.6

Conserved Domains (1) summary

cd00182
Location:106 → 296

TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...

RefSeqs of Annotated Genomes: Danio rerio Annotation Release 106 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCz11 Primary Assembly

Genomic

NC_007116.7 Reference GRCz11 Primary Assembly

Range

15201823..15215479

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005168611.4 → XP_005168668.1 T-box transcription factor TBX1 isoform X1

UniProtKB/TrEMBL

A0A8M2BFX3

Related

ENSDARP00000118808.1, ENSDART00000144915.3

Conserved Domains (1) summary

cd00182
Location:165 → 355

TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...
XM_009301230.3 → XP_009299505.1 T-box transcription factor TBX1 isoform X2

UniProtKB/TrEMBL

A0A8M3AZB3

Conserved Domains (1) summary

cd00182
Location:148 → 338

TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...