KEGG   Homo sapiens (human): 6910
Entry
6910              CDS       T01001                                 

Gene name
TBX5, HOS
Definition
(RefSeq) T-box transcription factor 5
  KO
K10179  T-box protein 5
Organism
hsa  Homo sapiens (human)
Disease
H00433  Holt-Oram syndrome
Brite
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Other transcription factors
   T-box
    6910 (TBX5)
SSDB
Motif
Pfam: T-box
Other DBs
NCBI-GeneID: 6910
NCBI-ProteinID: NP_000183
OMIM: 601620
HGNC: 11604
Ensembl: ENSG00000089225
Vega: OTTHUMG00000166191
Pharos: Q99593(Tbio)
UniProt: Q99593
Structure
PDB: 
2X6U 2X6V 5BQD 4S0H

Position
12q24.21
AA seq 518 aa
MADADEGFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFTQQGMEGIKVFLHE
RELWLKFHEVGTEMIITKAGRRMFPSYKVKVTGLNPKTKYILLMDIVPADDHRYKFADNK
WSVTGKAEPAMPGRLYVHPDSPATGAHWMRQLVSFQKLKLTNNHLDPFGHIILNSMHKYQ
PRLHIVKADENNGFGSKNTAFCTHVFPETAFIAVTSYQNHKITQLKIENNPFAKGFRGSD
DMELHRMSRMQSKEYPVVPRSTVRQKVASNHSPFSSESRALSTSSNLGSQYQCENGVSGP
SQDLLPPPNPYPLPQEHSQIYHCTKRKEEECSTTDHPYKKPYMETSPSEEDSFYRSSYPQ
QQGLGASYRTESAQRQACMYASSAPPSEPVPSLEDISCNTWPSMPSYSSCTVTTVQPMDR
LPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQTSVAHQPVVRQCGPQTGLQSPG
TLQPPEFLYSHGVPRTLSPHQYHSVHGVGMVPEWSDNS
NT seq 1557 nt   +upstreamnt  +downstreamnt
atggccgacgcagacgagggctttggcctggcgcacacgcctctggagcctgacgcaaaa
gacctgccctgcgattcgaaacccgagagcgcgctcggggcccccagcaagtccccgtcg
tccccgcaggccgccttcacccagcagggcatggagggaatcaaagtgtttctccatgaa
agagaactgtggctaaaattccacgaagtgggcacggaaatgatcataaccaaggctgga
aggcggatgtttcccagttacaaagtgaaggtgacgggccttaatcccaaaacgaagtac
attcttctcatggacattgtacctgccgacgatcacagatacaaattcgcagataataaa
tggtctgtgacgggcaaagctgagcccgccatgcctggccgcctgtacgtgcacccagac
tcccccgccaccggggcgcattggatgaggcagctcgtctccttccagaaactcaagctc
accaacaaccacctggacccatttgggcatattattctaaattccatgcacaaataccag
cctagattacacatcgtgaaagcggatgaaaataatggatttggctcaaaaaatacagcg
ttctgcactcacgtctttcctgagactgcgtttatagcagtgacttcctaccagaaccac
aagatcacgcaattaaagattgagaataatccctttgccaaaggatttcggggcagtgat
gacatggagctgcacagaatgtcaagaatgcaaagtaaagaatatcccgtggtccccagg
agcaccgtgaggcaaaaagtggcctccaaccacagtcctttcagcagcgagtctcgagct
ctctccacctcatccaatttggggtcccaataccagtgtgagaatggtgtttccggcccc
tcccaggacctcctgcctccacccaacccatacccactgccccaggagcatagccaaatt
taccattgtaccaagaggaaagaggaagaatgttccaccacagaccatccctataagaag
ccctacatggagacatcacccagtgaagaagattccttctaccgctctagctatccacag
cagcagggcctgggtgcctcctacaggacagagtcggcacagcggcaagcttgcatgtat
gccagctctgcgccccccagcgagcctgtgcccagcctagaggacatcagctgcaacacg
tggccaagcatgccttcctacagcagctgcaccgtcaccaccgtgcagcccatggacagg
ctaccctaccagcacttctccgctcacttcacctcggggcccctggtccctcggctggct
ggcatggccaaccatggctccccacagctgggagagggaatgttccagcaccagacctcc
gtggcccaccagcctgtggtcaggcagtgtgggcctcagactggcctgcagtcccctggc
acccttcagccccctgagttcctctactctcatggcgtgccaaggactctatcccctcat
cagtaccactctgtgcacggagttggcatggtgccagagtggagcgacaatagctaa

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (16)   
   KEGG ORTHOLOGY (1)   
   RefGene (4)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (6)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (4)   
DNA sequence (29)   
   RefSeq(nuc) (5)   
   GenBank (12)   
   EMBL (12)   
Protein domain (1)   
   Pfam (1)   
All databases (58)   

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