Homo sapiens (human): 253738
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Entry
253738 CDS
T01001
Symbol
EBF3, COE3, EBF-3, HADDS, O/E-2, OE-2
Name
(RefSeq) EBF transcription factor 3
KO
K09103
early B-cell factor
Organism
hsa
Homo sapiens (human)
Disease
H02378
Hypotonia, ataxia, and delayed development syndrome
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09182 Protein families: genetic information processing
03000 Transcription factors [BR:
hsa03000
]
253738 (EBF3)
Transcription factors [BR:
hsa03000
]
Eukaryotic type
Basic helix-loop-helix (bHLH)
HLH domain only
253738 (EBF3)
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GFIT
Motif
Pfam:
COE1_DBD
COE1_HLH
TIG
Motif
Other DBs
NCBI-GeneID:
253738
NCBI-ProteinID:
NP_001005463
OMIM:
607407
HGNC:
19087
Ensembl:
ENSG00000108001
UniProt:
Q9H4W6
Structure
PDB
PDBj
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Position
10:complement(129835233..129964274)
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AA seq
551 aa
AA seq
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MFGIQENIPRGGTTMKEEPLGSGMNPVRSWMHTAGVVDANTAAQSGVGLARAHFEKQPPS
NLRKSNFFHFVLALYDRQGQPVEIERTAFVDFVEKEKEPNNEKTNNGIHYKLQLLYSNGV
RTEQDLYVRLIDSMTKQAIVYEGQDKNPEMCRVLLTHEIMCSRCCDKKSCGNRNETPSDP
VIIDRFFLKFFLKCNQNCLKNAGNPRDMRRFQVVVSTTVNVDGHVLAVSDNMFVHNNSKH
GRRARRLDPSEATPCIKAISPSEGWTTGGATVIIIGDNFFDGLQVVFGTMLVWSELITPH
AIRVQTPPRHIPGVVEVTLSYKSKQFCKGAPGRFVYTALNEPTIDYGFQRLQKVIPRHPG
DPERLPKEVLLKRAADLVEALYGMPHNNQEIILKRAADIAEALYSVPRNHNQIPTLGNNP
AHTGMMGVNSFSSQLAVNVSETSQANDQVGYSRNTSSVSPRGYVPSSTPQQSNYNTVSTS
MNGYGSGAMASLGVPGSPGFLNGSSANSPYGMKQKSAFAPVVRPQASPPPSCTSANGNGL
QAMSGLVVPPM
NT seq
1656 nt
NT seq
+upstream
nt +downstream
nt
atgtttgggattcaggagaatattccgcgcggggggacgaccatgaaggaggagccgctg
ggcagcggcatgaacccggtgcgctcgtggatgcacacggcgggcgtggtggacgccaac
acggccgcccagagcggcgtggggctggcgcgggcgcacttcgagaagcagccgccttcc
aacctccggaaatccaatttcttccacttcgtgctggcgctctacgataggcaggggcag
ccggtggagattgaaaggaccgcttttgtggactttgtggagaaagagaaagagccaaac
aacgagaaaaccaacaacggcatccactataaactccagttattgtacagcaacggagtc
agaacagagcaagatctgtatgttcgcctcatagattcaatgaccaaacaggccatcgtc
tacgagggccaggacaagaacccggagatgtgccgtgtgctgctgacccacgagatcatg
tgcagccggtgctgtgacaagaaaagttgtggcaatagaaacgaaacgccctcagaccct
gtaatcattgacagattctttctaaagtttttcctcaagtgcaatcagaactgtttgaag
aatgcaggcaaccctcgagatatgcggagattccaggttgttgtatcgacaacagtcaac
gtggacggccacgtgctggccgtgtcagacaacatgtttgtgcacaacaattccaaacac
gggaggcgggcccgccgcctagacccgtcagaagccactccgtgcatcaaggccatcagt
cccagtgaaggctggaccacggggggtgccaccgtcatcataattggcgacaacttcttt
gacgggctgcaagttgtattcggaactatgttggtgtggagcgagctgataactccccat
gccatccgagtccagaccccgccgaggcacattcctggcgtcgtcgaagtgaccctctcc
tacaaatccaagcagttctgcaaaggtgctcctgggcgctttgtctacaccgcccttaat
gaaccaaccatagattacggctttcagaggttgcagaaagtgatcccaagacatccgggt
gatcccgaaaggttacccaaggaggtgttactgaagcgggcggcggacctggtggaagcc
ttatacggaatgcctcacaacaaccaggagatcatcttgaagcgagcggcggacatcgcc
gaggcgctgtacagcgttccccgcaatcacaaccagatccccaccctgggcaacaaccct
gcacacacgggcatgatgggcgtcaactccttcagcagccagctagccgtcaacgtgtca
gagacgtcacaagccaacgaccaagtcggctacagtcgcaatacaagcagcgtgtccccg
cgaggctacgtccccagcagtactccccagcagtccaattacaacacagtcagcactagc
atgaatggatatggaagtggcgccatggccagtctaggggtccctggctcgcctggattt
cttaatggctcctccgctaactctccctacggcatgaaacagaagagcgccttcgcgccc
gtggtccggccccaagcctctcctcctccttcctgcaccagcgccaacgggaatggactg
caagctatgtctgggctggtagtcccgccaatgtga
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