KEGG   Homo sapiens (human): 6899Help
Entry
6899              CDS       T01001                                 

Gene name
TBX1, CAFS, CATCH22, CTHM, DGCR, DGS, DORV, TBX1C, TGA, VCF, VCFS
Definition
(RefSeq) T-box 1
  KO
K10175  
T-box protein 1
Organism
hsa  Homo sapiens (human)
Disease
H00107  
Other well-defined immunodeficiency syndromes
H00549  
Tetralogy of Fallot
H00918  
Conotruncal heart malformations
H01004  
Velocardiofacial syndrome
H01524  
DiGeorge syndrome
H01525  
22q11.2 deletion syndrome
Brite
Transcription factors [BR:hsa03000]
 Eukaryotic Type
  Other transcription factors
   T-box
    6899 (TBX1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: 
Motif
Other DBs
NCBI-ProteinID: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

Jmol
Position
22q11.21
AA seq 398 aa AA seqDB search
MHFSTVTRDMEAFTASSLSSLGAAGGFPGAASPGADPYGPREPPPPPPRYDPCAAAAPGA
PGPPPPPHAYPFAPAAGAATSAAAEPEGPGASCAAAAKAPVKKNAKVAGVSVQLEMKALW
DEFNQLGTEMIVTKAGRRMFPTFQVKLFGMDPMADYMLLMDFVPVDDKRYRYAFHSSSWL
VAGKADPATPGRVHYHPDSPAKGAQWMKQIVSFDKLKLTNNLLDDNGHIILNSMHRYQPR
FHVVYVDPRKDSEKYAEENFKTFVFEETRFTAVTAYQNHRITQLKIASNPFAKGFRDCDP
EDWPRNHRPGALPLMSAFARSRNPVASPTQPSGTEKGGHVLKDKEVKAETSRNTPEREVE
LLRDAGGCVNLGLPCPAECQPFNTQGLVAGRTAGDRLC
NT seq 1197 nt NT seq  +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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