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).Functional Description
Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries (By similarity).
|
Phosphorylation Sites
|
dbPAF PTMs: 6 |
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
399Fasta Sequence
>O43435|TBX1|Homo sapiens(Human) MHFSTVTRDMEAFTASSLSSLGAAGGFPGAASPGADPYGPREPPPPPPRYDPCAAAAPGAPGPPPPPHAYPFAPAAGAATSAAAEPEGPGASCAAAAKAPVKKNAKVAGVSVQLEMKALWDEFNQLGTEMIVTKAGRRMFPTFQVKLFGMDPMADYMLLMDFVPVDDKRYRYAFHSSSWLVAGKADPATPGRVHYHPDSPAKGAQWMKQIVSFDKLKLTNNLLDDNGHIILNSMHRYQPRFHVVYVDPRKDSEKYAEENFKTFVFEETRFTAVTAYQNHRITQLKIASNPFAKGFRDCDPEDWPRNHRPGALPLMSAFARSRNPVASPTQPSGTEKGGHVLKDKEVKAETSRNTPEREVELLRDAGGCVNLGLPCPAECQPFNTQGLVAGRTAGDRLC
|
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
|