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

Gene name
TBX1, CAFS, CTHM, DGCR, DGS, DORV, TBX1C, TGA, VCFS, VCF
Definition
T-box 1
Orthology
K10175  
T-box protein 1
Organism
hsa  Homo sapiens (human)
Disease
H00107  
Other well-defined immunodeficiency syndromes
H00918  
Conotruncal heart malformations
H01004  
Velocardiofacial syndrome
Class
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: 
Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

Jmol
Position
22q11.21
AA seq 372 aa AA seqDB search
MHFSTVTRDMEAFTASSLSSLGAAGGFPGAASPGADPYGPREPPPPPPRYDPCAAAAPGA
PGPPPPPHAYPFAPAAGAATSAAAEPEGPGASCAAAAKAPVKKNAKVAGVSVQLEMKALW
DEFNQLGTEMIVTKAGRRMFPTFQVKLFGMDPMADYMLLMDFVPVDDKRYRYAFHSSSWL
VAGKADPATPGRVHYHPDSPAKGAQWMKQIVSFDKLKLTNNLLDDNGHIILNSMHRYQPR
FHVVYVDPRKDSEKYAEENFKTFVFEETRFTAVTAYQNHRITQLKIASNPFAKGFRDCDP
EDWPRNHRPGALPLMSAFARSRNPVASPTQPSGTEKGLVTEGSGLQPGLLDVLLKPPSKK
SESLRPPHCKDT
NT seq 1119 nt NT seq  +upstreamnt  +downstreamnt
atgcacttcagcaccgtcaccagggacatggaagccttcacggccagcagcctgagcagc
ctgggggccgcggggggcttcccgggcgccgcgtcgcccggcgccgacccgtacggcccg
cgcgagcccccgccgccgccgccgcgctacgacccgtgcgccgccgccgcccccggcgcc
ccgggcccgccgccgccgccgcacgcctacccgtttgcgccggccgccggggccgccacc
agcgccgccgccgagcccgagggccccggggccagctgcgcggccgcagccaaggcgccg
gtgaagaagaacgcgaaggtggccggtgtgagcgtgcagctagagatgaaggcgctgtgg
gacgagttcaaccagctgggcaccgagatgatcgtcaccaaggccggcaggcggatgttt
cccaccttccaagtgaagctcttcggcatggatcccatggccgactatatgctgctcatg
gacttcgtgccggtggacgataagcgctaccggtacgccttccacagctcctcctggctg
gtggcggggaaggccgaccctgccacgccaggccgcgtgcactaccacccggactcgcct
gccaagggcgcgcagtggatgaagcaaatcgtgtccttcgacaagctcaagctgaccaac
aacctactggacgacaacggccacattattctgaattccatgcacagataccagccccgc
ttccacgtggtctatgtggacccacgcaaagatagcgagaaatatgccgaggagaacttc
aaaacctttgtgttcgaggagacacgattcaccgcggtcactgcctaccagaaccatcgg
atcacgcagctcaagattgccagcaatcccttcgcgaaaggcttccgggactgtgaccct
gaggactggccccggaaccaccggcccggcgcactgccgctcatgagcgccttcgcgcgc
tcgcggaaccccgtggcttccccgacgcagcccagcggcacggagaaagggctggtcaca
gaaggctctgggctccaacctggcttgctggacgtgctcttgaagcccccaagtaagaag
tctgagtccctgagaccaccacactgcaaggacacttga

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