KEGG   Homo sapiens (human): 147912Help
Entry
147912            CDS       T01001                                 

Gene name
SIX5, BOR2, DMAHP
Definition
(RefSeq) SIX homeobox 5
  KO
K19474  homeobox protein SIX5
Organism
hsa  Homo sapiens (human)
Disease
H00453  Branchio-oto-renal syndrome
Brite
Transcription factors [BR:hsa03000]
 Eukaryotic Type
  Helix-turn-helix
   Homeo domain only, SIM
    147912 (SIX5)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: SIX1_SD Homeobox Homeobox_KN
Motif
Other DBs
NCBI-GeneID: 147912
NCBI-ProteinID: NP_787071
OMIM: 600963
HGNC: 10891
Ensembl: ENSG00000177045
Vega: OTTHUMG00000172208
Pharos: Q8N196(Tbio)
UniProt: Q8N196
Position
19q13.32
AA seq 739 aa AA seqDB search
MATLPAEPSAGPAAGGEAVAAAAATEEEEEEARQLLQTLQAAEGEAAAAAGAGAGAAAAG
AEGPGSPGVPGSPPEAASEPPTGLRFSPEQVACVCEALLQAGHAGRLSRFLGALPPAERL
RGSDPVLRARALVAFQRGEYAELYRLLESRPFPAAHHAFLQDLYLRARYHEAERARGRAL
GAVDKYRLRKKFPLPKTIWDGEETVYCFKERSRAALKACYRGNRYPTPDEKRRLATLTGL
SLTQVSNWFKNRRQRDRTGAGGGAPCKSESDGNPTTEDESSRSPEDLERGAAPVSAEAAA
QGSIFLAGTGPPAPCPASSSILVNGSFLAASGSPAVLLNGGPVIINGLALGEASSLGPLL
LTGGGGAPPPQPSPQGASETKTSLVLDPQTGEVRLEEAQSEAPETKGAQVAAPGPALGEE
VLGPLAQVVPGPPTAATFPLPPGPVPAVAAPQVVPLSPPPGYPTGLSPTSPLLNLPQVVP
TSQVVTLPQAVGPLQLLAAGPGSPVKVAAAAGPANVHLINSGVGVTALQLPSATAPGNFL
LANPVSGSPIVTGVAVQQGKIILTATFPTSMLVSQVLPPAPGLALPLKPETAISVPEGGL
PVAPSPALPEAHALGTLSAQQPPPAAATTSSTSLPFSPDSPGLLPNFPAPPPEGLMLSPA
AVPVWSAGLELSAGTEGLLEAEKGLGTQAPHTVLRLPDPDPEGLLLGATAGGEVDEGLEA
EAKVLTQLQSVPVEEPLEL
NT seq 2220 nt NT seq  +upstreamnt  +downstreamnt
atggctaccttgcctgcggagccgagcgcggggccggcggctgggggggaggcggtggcg
gcggcggcggcgaccgaagaggaggaggaggaagcgcgccagctcttgcagactttgcag
gcggccgagggtgaggcggcggcggcggccggggccggggcgggcgcagcggctgcggga
gctgagggcccgggatccccgggcgtccccgggtcgccccccgaggccgcttccgaaccg
cccacgggcctccgcttctcgcccgagcaggtggcgtgcgtctgcgaggcgctgctccag
gcgggccacgccggccgcttgagccgcttcctgggcgcactgcccccggccgagcgccta
cgtggcagcgacccggtgttgcgcgcgcgggccctggtggccttccagcggggcgagtac
gccgagctctaccggctactcgagagccgccccttccccgccgcccaccacgccttcctg
caggacctctacctgcgcgcgcgctaccatgaggccgagcgggcccgcggccgcgcgctt
ggcgcagtggacaagtatcgactgcgcaagaagttcccgctgcccaagaccatctgggac
ggcgaggagacagtctactgcttcaaggagcgctcccgcgcagcgctcaaggcctgctac
cgcggcaaccgctaccccacgccggacgagaagcgccgcctggccacactcaccggcctg
tcgctcacgcaggtcagcaactggttcaagaaccggcgacagcgcgaccggaccggggcc
ggaggcggcgcgccctgcaagagcgagtctgatgggaatcccacgactgaggacgagtcc
agccgaagtcctgaggacctggagagaggggcggccccagtgtccgccgaggccgctgcc
cagggctccatattcctggcagggaccggccctcccgcgccttgcccggcttcctcctcc
atcctggtgaacgggagcttcctggcagccagcggctccccagcagtgctcctcaacggg
ggccccgtcatcatcaacggcctggccctgggcgaggcctccagcctgggcccgctgctg
ctcactgggggcgggggtgcccctccaccgcagcccagccctcagggggccagcgagacc
aagacctctctggtcctggaccctcagacaggggaggtgcggctggaggaggctcagtcg
gaggcccctgagaccaaaggggcccaggtggctgctccgggaccagcccttggagaggag
gtcctggggcccctggcccaagtggtgcctggccccccgacggctgccacctttcctctg
cccccggggccagtgcctgctgtggctgccccacaagtggtaccgctctccccacccccg
gggtatcccacgggcctgagccccacctccccactattgaacctgccccaggtagtaccc
acctcacaggtggtgaccctgccccaggctgtggggcccctgcagctgttggcagccggg
ccaggcagccctgtgaaggtggcagctgcagcaggccctgccaatgtgcacctcatcaac
tccggggtgggcgtgactgccctgcagctgccttcggccactgccccaggaaacttcctc
ctggccaaccctgtgtctggcagccccatcgtgacgggtgtggccgtgcagcagggcaag
atcatcctcaccgccaccttccccaccagcatgctcgtctcccaggtcctgccgccagcc
cccggcctggccctgccactgaagccagagacggccatctccgtgcctgagggaggcctc
ccggtggcccccagccctgctctcccagaggctcacgccctaggcaccctttctgcacag
cagccaccccccgccgctgccaccacctccagcaccagcctgcccttctcccctgactcc
cctggcctcctgcccaacttcccggcgcccccaccagaggggctgatgttgtcacccgcg
gccgtgcctgtctggtcagcagggctggaactaagcgcaggaacagaggggctgctggaa
gcggaaaaggggctggggacacaggccccccacaccgtgctgaggctgccagaccccgac
cctgaggggctgctcctgggggccaccgcagggggtgaggttgacgaggggttggaagct
gaggccaaggttctgacccagctccagtcggtgcctgtggaggagcccttggaactgtga

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