KEGG   Homo sapiens (human): 6899
Entry
6899              CDS       T01001                                 
Symbol
TBX1, CAFS, CATCH22, CTHM, DGCR, DGS, DORV, TBX1C, TGA, VCF, VCFS
Name
(RefSeq) T-box transcription factor 1
  KO
K10175  T-box protein 1
Organism
hsa  Homo sapiens (human)
Disease
H00107  Other well-defined immunodeficiency syndromes
H00549  Tetralogy of Fallot
H01004  Velocardiofacial syndrome
H01524  DiGeorge syndrome
H01525  22q11.2 deletion syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    6899 (TBX1)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Other transcription factors
   T-box
    6899 (TBX1)
SSDB
Motif
Pfam: T-box
Other DBs
NCBI-GeneID: 6899
NCBI-ProteinID: NP_542377
OMIM: 602054
HGNC: 11592
Ensembl: ENSG00000184058
UniProt: O43435
Structure
LinkDB
Position
22:19756703..19783593
AA seq 398 aa
MHFSTVTRDMEAFTASSLSSLGAAGGFPGAASPGADPYGPREPPPPPPRYDPCAAAAPGA
PGPPPPPHAYPFAPAAGAATSAAAEPEGPGASCAAAAKAPVKKNAKVAGVSVQLEMKALW
DEFNQLGTEMIVTKAGRRMFPTFQVKLFGMDPMADYMLLMDFVPVDDKRYRYAFHSSSWL
VAGKADPATPGRVHYHPDSPAKGAQWMKQIVSFDKLKLTNNLLDDNGHIILNSMHRYQPR
FHVVYVDPRKDSEKYAEENFKTFVFEETRFTAVTAYQNHRITQLKIASNPFAKGFRDCDP
EDWPRNHRPGALPLMSAFARSRNPVASPTQPSGTEKGGHVLKDKEVKAETSRNTPEREVE
LLRDAGGCVNLGLPCPAECQPFNTQGLVAGRTAGDRLC
NT seq 1197 nt   +upstreamnt  +downstreamnt
atgcacttcagcaccgtcaccagggacatggaagccttcacggccagcagcctgagcagc
ctgggggccgcggggggcttcccgggcgccgcgtcgcccggcgccgacccgtacggcccg
cgcgagcccccgccgccgccgccgcgctacgacccgtgcgccgccgccgcccccggcgcc
ccgggcccgccgccgccgccgcacgcctacccgtttgcgccggccgccggggccgccacc
agcgccgccgccgagcccgagggccccggggccagctgcgcggccgcagccaaggcgccg
gtgaagaagaacgcgaaggtggccggtgtgagcgtgcagctagagatgaaggcgctgtgg
gacgagttcaaccagctgggcaccgagatgatcgtcaccaaggccggcaggcggatgttt
cccaccttccaagtgaagctcttcggcatggatcccatggccgactatatgctgctcatg
gacttcgtgccggtggacgataagcgctaccggtacgccttccacagctcctcctggctg
gtggcggggaaggccgaccctgccacgccaggccgcgtgcactaccacccggactcgcct
gccaagggcgcgcagtggatgaagcaaatcgtgtccttcgacaagctcaagctgaccaac
aacctactggacgacaacggccacattattctgaattccatgcacagataccagccccgc
ttccacgtggtctatgtggacccacgcaaagatagcgagaaatatgccgaggagaacttc
aaaacctttgtgttcgaggagacacgattcaccgcggtcactgcctaccagaaccatcgg
atcacgcagctcaagattgccagcaatcccttcgcgaaaggcttccgggactgtgaccct
gaggactggccccggaaccaccggcccggcgcactgccgctcatgagcgccttcgcgcgc
tcgcggaaccccgtggcttccccgacgcagcccagcggcacggagaaaggtggacatgtc
ctgaaggacaaggaagtgaaagctgagacgtctaggaacacaccagagagagaagtggag
cttctgagggatgcaggtggctgtgtgaacctggggctcccctgccccgcagagtgccaa
cccttcaatacccagggcctggtggctgggaggaccgcaggtgaccgtctttgttga

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