Homo sapiens (human): 474
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Entry
474 CDS
T01001
Symbol
ATOH1, ATH1, DFNA89, HATH1, MATH-1, bHLHa14
Name
(RefSeq) atonal bHLH transcription factor 1
KO
K09083
atonal protein 1/7
Organism
hsa
Homo sapiens (human)
Disease
H00604
Deafness, autosomal dominant
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09182 Protein families: genetic information processing
03000 Transcription factors [BR:
hsa03000
]
474 (ATOH1)
Transcription factors [BR:
hsa03000
]
Eukaryotic type
Basic helix-loop-helix (bHLH)
Tal/Twist/Atonal/Hen, Atonal
474 (ATOH1)
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Gene cluster
GFIT
Motif
Pfam:
HLH
Motif
Other DBs
NCBI-GeneID:
474
NCBI-ProteinID:
NP_005163
OMIM:
601461
HGNC:
797
Ensembl:
ENSG00000172238
UniProt:
Q92858
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Position
4:93828753..93830964
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AA seq
354 aa
AA seq
DB search
MSRLLHAEEWAEVKELGDHHRQPQPHHLPQPPPPPQPPATLQAREHPVYPPELSLLDSTD
PRAWLAPTLQGICTARAAQYLLHSPELGASEAAAPRDEVDGRGELVRRSSGGASSSKSPG
PVKVREQLCKLKGGVVVDELGCSRQRAPSSKQVNGVQKQRRLAANARERRRMHGLNHAFD
QLRNVIPSFNNDKKLSKYETLQMAQIYINALSELLQTPSGGEQPPPPPASCKSDHHHLRT
AASYEGGAGNATAAGAQQASGGSQRPTPPGSCRTRFSAPASAGGYSVQLDALHFSTFEDS
ALTAMMAQKNLSPSLPGSILQPVQEENSKTSPRSHRSDGEFSPHSHYSDSDEAS
NT seq
1065 nt
NT seq
+upstream
nt +downstream
nt
atgtcccgcctgctgcatgcagaagagtgggctgaagtgaaggagttgggagaccaccat
cgccagccccagccgcatcatctcccgcaaccgccgccgccgccgcagccacctgcaact
ttgcaggcgagagagcatcccgtctacccgcctgagctgtccctcctggacagcaccgac
ccacgcgcctggctggctcccactttgcagggcatctgcacggcacgcgccgcccagtat
ttgctacattccccggagctgggtgcctcagaggccgctgcgccccgggacgaggtggac
ggccggggggagctggtaaggaggagcagcggcggtgccagcagcagcaagagccccggg
ccggtgaaagtgcgggaacagctgtgcaagctgaaaggcggggtggtggtagacgagctg
ggctgcagccgccaacgggccccttccagcaaacaggtgaatggggtgcagaagcagaga
cggctagcagccaacgccagggagcggcgcaggatgcatgggctgaaccacgccttcgac
cagctgcgcaatgttatcccgtcgttcaacaacgacaagaagctgtccaaatatgagacc
ctgcagatggcccaaatctacatcaacgccttgtccgagctgctacaaacgcccagcgga
ggggaacagccaccgccgcctccagcctcctgcaaaagcgaccaccaccaccttcgcacc
gcggcctcctatgaagggggcgcgggcaacgcgaccgcagctggggctcagcaggcttcc
ggagggagccagcggccgaccccgcccgggagttgccggactcgcttctcagccccagct
tctgcgggagggtactcggtgcagctggacgctctgcacttctcgactttcgaggacagc
gccctgacagcgatgatggcgcaaaagaatttgtctccttctctccccgggagcatcttg
cagccagtgcaggaggaaaacagcaaaacttcgcctcggtcccacagaagcgacggggaa
ttttccccccattcccattacagtgactcggatgaggcaagttag
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