dbPAF Protein Information


Tag Content
dbPAF ID dbPAF-0001540
Uniprot Accession O43435; TBX1_HUMAN; C6G493; C6G494; O43436; Q96RJ2;
Genbank Protein ID NP_005983.1; NP_542377.1; NP_542378.1; XP_006724375.1;
Genbank Nucleotide ID NM_005992.1; NM_080646.1; NM_080647.1; XM_006724312.1;
Protein Name T-box transcription factor TBX1
Protein Synonyms/Alias
Gene Name TBX1
Gene Synonyms/Alias
Organism Homo sapiens(Human)
NCBI Taxa ID 9606
Functional Description
(View all)
Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries (By similarity).
Phosphorylation Sites
dbPAF PTMs: 6
PositionPeptidesSourceReferences ( PMIDs )
142AGRRMFPTFQVKLFGPhosphoSitePlus22135298
237ILNSMHRYQPRFHVVPhosphoSitePlus22135298
255PRKDSEKYAEENFKTPhosphoSitePlus22135298
276RFTAVTAYQNHRITQPhosphoSitePlus22135298
282AYQNHRITQLKIASNPhosphoSitePlus22135298
327RSRNPVASPTQPSGTPhosphoSitePlus;curated22135298; 23186163; 21857030
Sequence
(Fasta)
MHFSTVTRDM EAFTASSLSS LGAAGGFPGA ASPGADPYGP REPPPPPPRY DPCAAAAPGA 60
PGPPPPPHAY PFAPAAGAAT SAAAEPEGPG ASCAAAAKAP VKKNAKVAGV SVQLEMKALW 120
DEFNQLGTEM IVTKAGRRMF PTFQVKLFGM DPMADYMLLM DFVPVDDKRY RYAFHSSSWL 180
VAGKADPATP GRVHYHPDSP AKGAQWMKQI VSFDKLKLTN NLLDDNGHII LNSMHRYQPR 240
FHVVYVDPRK DSEKYAEENF KTFVFEETRF TAVTAYQNHR ITQLKIASNP FAKGFRDCDP 300
EDWPRNHRPG ALPLMSAFAR SRNPVASPTQ PSGTEKGGHV LKDKEVKAET SRNTPEREVE 360
LLRDAGGCVN LGLPCPAECQ PFNTQGLVAG RTAGDRLC 399
Keyword

KW-0002--3D-structure
KW-0025--Alternative splicing
KW-0181--Complete proteome
KW-0217--Developmental protein
KW-0225--Disease mutation
KW-0238--DNA-binding
KW-0539--Nucleus
KW-0621--Polymorphism
KW-1185--Reference proteome
KW-0804--Transcription
KW-0805--Transcription regulation

Interpro

IPR008967--p53-like_TF_DNA-bd
IPR001699--TF_T-box
IPR018186--TF_T-box_CS

PROSITE

PS01283--TBOX_1
PS01264--TBOX_2
PS50252--TBOX_3

Pfam
Gene Ontology

GO:0005634--C:nucleus
GO:0003677--F:DNA binding
GO:0046983--F:protein dimerization activity
GO:0042803--F:protein homodimerization activity
GO:0043565--F:sequence-specific DNA binding
GO:0001525--P:angiogenesis
GO:0009952--P:anterior/posterior pattern specification
GO:0035909--P:aorta morphogenesis
GO:0048844--P:artery morphogenesis
GO:0001568--P:blood vessel development
GO:0048514--P:blood vessel morphogenesis
GO:0001708--P:cell fate specification
GO:0008283--P:cell proliferation
GO:0044344--P:cellular response to fibroblast growth factor stimulus
GO:0071300--P:cellular response to retinoic acid
GO:0090103--P:cochlea morphogenesis
GO:0060982--P:coronary artery morphogenesis
GO:0007368--P:determination of left/right symmetry
GO:0042471--P:ear morphogenesis
GO:0048701--P:embryonic cranial skeleton morphogenesis
GO:0048703--P:embryonic viscerocranium morphogenesis
GO:0070166--P:enamel mineralization
GO:0030855--P:epithelial cell differentiation
GO:0060325--P:face morphogenesis
GO:0007507--P:heart development
GO:0003007--P:heart morphogenesis
GO:0042472--P:inner ear morphogenesis
GO:0001945--P:lymph vessel development
GO:0097152--P:mesenchymal cell apoptotic process
GO:0007498--P:mesoderm development
GO:0042474--P:middle ear morphogenesis
GO:0042693--P:muscle cell fate commitment
GO:0007517--P:muscle organ development
GO:0048644--P:muscle organ morphogenesis
GO:0060415--P:muscle tissue morphogenesis
GO:0045596--P:negative regulation of cell differentiation
GO:2001054--P:negative regulation of mesenchymal cell apoptotic process
GO:0001755--P:neural crest cell migration
GO:0042475--P:odontogenesis of dentin-containing tooth
GO:0042473--P:outer ear morphogenesis
GO:0003151--P:outflow tract morphogenesis
GO:0003148--P:outflow tract septum morphogenesis
GO:0060017--P:parathyroid gland development
GO:0007389--P:pattern specification process
GO:0060037--P:pharyngeal system development
GO:0008284--P:positive regulation of cell proliferation
GO:0050679--P:positive regulation of epithelial cell proliferation
GO:0043410--P:positive regulation of MAPK cascade
GO:0002053--P:positive regulation of mesenchymal cell proliferation
GO:0001934--P:positive regulation of protein phosphorylation
GO:2001037--P:positive regulation of tongue muscle cell differentiation
GO:0045944--P:positive regulation of transcription from RNA polymerase II promoter
GO:0045893--P:positive regulation of transcription, DNA-templated
GO:2000027--P:regulation of organ morphogenesis
GO:0006357--P:regulation of transcription from RNA polymerase II promoter
GO:0048384--P:retinoic acid receptor signaling pathway
GO:0048752--P:semicircular canal morphogenesis
GO:0007605--P:sensory perception of sound
GO:0035176--P:social behavior
GO:0060023--P:soft palate development
GO:0048538--P:thymus development
GO:0030878--P:thyroid gland development
GO:0043587--P:tongue morphogenesis
GO:0006351--P:transcription, DNA-templated
GO:0021644--P:vagus nerve morphogenesis