KEGG   Homo sapiens (human): 253738
Entry
253738            CDS       T01001                                 

Gene name
EBF3, COE3, EBF-3, HADDS, O/E-2, OE-2
Definition
(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)
SSDB
Motif
Pfam: COE1_DBD COE1_HLH TIG
Other DBs
NCBI-GeneID: 253738
NCBI-ProteinID: NP_001005463
OMIM: 607407
HGNC: 19087
Ensembl: ENSG00000108001
Vega: OTTHUMG00000019265
Pharos: Q9H4W6(Tbio)
UniProt: Q9H4W6
LinkDB
Structure
PDB: 
3MUJ 3N50

Position
10q26.3
AA seq 551 aa
MFGIQENIPRGGTTMKEEPLGSGMNPVRSWMHTAGVVDANTAAQSGVGLARAHFEKQPPS
NLRKSNFFHFVLALYDRQGQPVEIERTAFVDFVEKEKEPNNEKTNNGIHYKLQLLYSNGV
RTEQDLYVRLIDSMTKQAIVYEGQDKNPEMCRVLLTHEIMCSRCCDKKSCGNRNETPSDP
VIIDRFFLKFFLKCNQNCLKNAGNPRDMRRFQVVVSTTVNVDGHVLAVSDNMFVHNNSKH
GRRARRLDPSEATPCIKAISPSEGWTTGGATVIIIGDNFFDGLQVVFGTMLVWSELITPH
AIRVQTPPRHIPGVVEVTLSYKSKQFCKGAPGRFVYTALNEPTIDYGFQRLQKVIPRHPG
DPERLPKEVLLKRAADLVEALYGMPHNNQEIILKRAADIAEALYSVPRNHNQIPTLGNNP
AHTGMMGVNSFSSQLAVNVSETSQANDQVGYSRNTSSVSPRGYVPSSTPQQSNYNTVSTS
MNGYGSGAMASLGVPGSPGFLNGSSANSPYGMKQKSAFAPVVRPQASPPPSCTSANGNGL
QAMSGLVVPPM
NT seq 1656 nt   +upstreamnt  +downstreamnt
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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