TBX1

Description		T-box transcription factor 1
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GO Annotations	Cellular Component	Chromatin Nucleus
	Molecular Function	RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding DNA-binding Transcription Factor Activity, RNA Polymerase II-specific DNA Binding DNA-binding Transcription Factor Activity Protein Binding Protein Homodimerization Activity Sequence-specific DNA Binding Protein Dimerization Activity Sequence-specific Double-stranded DNA Binding
	Biological Process	Angiogenesis Blood Vessel Development Cell Fate Specification Neural Crest Cell Migration Positive Regulation Of Protein Phosphorylation Lymph Vessel Development Positive Regulation Of Mesenchymal Cell Proliferation Heart Morphogenesis Outflow Tract Septum Morphogenesis Outflow Tract Morphogenesis Regulation Of DNA-templated Transcription Regulation Of Transcription By RNA Polymerase II Determination Of Left/right Symmetry Pattern Specification Process Mesoderm Development Heart Development Muscle Organ Development Sensory Perception Of Sound Cell Population Proliferation Positive Regulation Of Cell Population Proliferation Anatomical Structure Morphogenesis Anterior/posterior Pattern Specification Vagus Nerve Morphogenesis Epithelial Cell Differentiation Thyroid Gland Development Somatic Stem Cell Population Maintenance Social Behavior Aorta Morphogenesis Ear Morphogenesis Inner Ear Morphogenesis Outer Ear Morphogenesis Middle Ear Morphogenesis Odontogenesis Of Dentin-containing Tooth Muscle Cell Fate Commitment Positive Regulation Of MAPK Cascade Tongue Morphogenesis Cellular Response To Fibroblast Growth Factor Stimulus Negative Regulation Of Cell Differentiation Positive Regulation Of DNA-templated Transcription Positive Regulation Of Transcription By RNA Polymerase II Retinoic Acid Receptor Signaling Pathway Blood Vessel Morphogenesis Thymus Development Muscle Organ Morphogenesis Embryonic Cranial Skeleton Morphogenesis Embryonic Viscerocranium Morphogenesis Semicircular Canal Morphogenesis Artery Morphogenesis Positive Regulation Of Epithelial Cell Proliferation Parathyroid Gland Development Soft Palate Development Pharyngeal System Development Face Morphogenesis Muscle Tissue Morphogenesis Coronary Artery Morphogenesis Enamel Mineralization Cellular Response To Retinoic Acid Cochlea Morphogenesis Mesenchymal Cell Apoptotic Process Regulation Of Animal Organ Morphogenesis Positive Regulation Of Tongue Muscle Cell Differentiation Negative Regulation Of Mesenchymal Cell Apoptotic Process
Pathways		Cardiogenesis
Drugs
Diseases		Velocardiofacial syndrome Conotruncal heart malformations, including: Double-outlet right ventricle; Persistent truncus arteriosus; Conotruncal anomaly face syndrome Other well-defined immunodeficiency syndromes, including the following seven diseases: Wiskott-Aldrich syndrome; DiGeorge syndrome; Hyper-IgE syndrome; X-linked lymphoproliferative syndrome; Immunodeficiency, Polyendocrinopathy, Enteropathy, X-linked Syndrome (IPEX); Cartilage-Hair Hypoplasia; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
GWAS		Acute kidney injury in critical illness ( 27576016) Adolescent idiopathic scoliosis ( 31417091) Childhood ear infection ( 27182965 28928442) DNA methylation (parent-of-origin) ( 23725790) Interleukin-10 levels ( 22205395) Myringotomy ( 28928442) Prostate cancer ( 25217961) Rheumatoid arthritis ( 30891314) Schizophrenia ( 26198764) Tonsillectomy ( 27182965 28928442)
Novel Interacting Genes		2 novel interacting genes: MORC3 PRODH
Interacting Genes		2 interacting genes: MORC3 PRODH
Entrez ID		6899
HPRD ID		09069
Ensembl ID		ENSG00000184058
Uniprot IDs		A0A3B3IS18 D9ZGG0 O43435 Q152R5
PDB IDs		4A04
Enriched GO Terms of Interacting Partners?		L-proline Catabolic Process To L-glutamate Trans-4-hydroxy-L-proline Catabolic Process L-proline Catabolic Process Proline Dehydrogenase Activity Proline Metabolic Process Intrinsic Apoptotic Signaling Pathway In Response To Oxidative Stress Regulation Of Oxidative Stress-induced Neuron Intrinsic Apoptotic Signaling Pathway Positive Regulation Of Cellular Senescence Negative Regulation Of Interferon-beta Production Histone H3K4me3 Reader Activity Glutamate Metabolic Process Modified Amino Acid Catabolic Process Maintenance Of Protein Location In Nucleus Negative Regulation Of Fibroblast Proliferation Regulation Of Oxidative Stress-induced Intrinsic Apoptotic Signaling Pathway FAD Binding Peptidyl-serine Phosphorylation Maintenance Of Protein Localization In Organelle Negative Regulation Of Type I Interferon Production Glutamine Family Amino Acid Metabolic Process Type I Interferon-mediated Signaling Pathway Regulation Of Cellular Senescence Maintenance Of Protein Location In Cell Regulation Of Interferon-beta Production Maintenance Of Protein Location Proteinogenic Amino Acid Catabolic Process L-amino Acid Catabolic Process Antiviral Innate Immune Response Post-embryonic Development Interferon-mediated Signaling Pathway Maintenance Of Location In Cell Maintenance Of Location Dicarboxylic Acid Metabolic Process Regulation Of Fibroblast Proliferation Amino Acid Catabolic Process PML Body
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