Homo sapiens (human): 83715
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Entry
83715 CDS
T01001
Symbol
ESPN, DFNB36, LP2654, USH1M
Name
(RefSeq) espin isoform 1
KO
K24047
espin
Organism
hsa
Homo sapiens (human)
Disease
H00604
Deafness, autosomal dominant
H00605
Deafness, autosomal recessive
H00779
Usher syndrome
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
03037 Cilium and associated proteins [BR:
hsa03037
]
83715 (ESPN)
04990 Domain-containing proteins not elsewhere classified [BR:
hsa04990
]
83715 (ESPN)
Cilium and associated proteins [BR:
hsa03037
]
Other cilia and associated proteins
Stereociliary proteins
83715 (ESPN)
Domain-containing proteins not elsewhere classified [BR:
hsa04990
]
EVH1 / WASP homology (WH) domain-containing proteins
WH2 domain-containing proteins
83715 (ESPN)
SSDB
Ortholog
Paralog
GFIT
Motif
Pfam:
Ank_2
Ank_4
Ank
Ank_5
Ank_3
Ank_KRIT1
WH2
Motif
Other DBs
NCBI-GeneID:
83715
NCBI-ProteinID:
NP_113663
OMIM:
606351
HGNC:
13281
Ensembl:
ENSP00000496593.1
UniProt:
B1AK53
LinkDB
All DBs
Position
1:6424776..6461370
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AA seq
854 aa
AA seq
DB search
MALEQALQAARQGELDVLRSLHAAGLLGPSLRDPLDALPVHHAARAGKLHCLRFLVEEAA
LPAAARARNGATPAHDASATGHLACLQWLLSQGGCRVQDKDNSGATVLHLAARFGHPEVV
NWLLHHGGGDPTAATDMGALPIHYAAAKGDFPSLRLLVEHYPEGVNAQTKNGATPLYLAC
QEGHLEVTQYLVQECGADPHARAHDGMTPLHAAAQMGHSPVIVWLVSCTDVSLSEQDKDG
ATAMHFAASRGHTKVLSWLLLHGGEISADLWGGTPLHDAAENGELECCQILVVNGAELDV
RDRDGYTAADLSDFNGHSHCTRYLRTVENLSVEHRVLSRDPSAELEAKQPDSGMSSPNTT
VSVQPLNFDLSSPTSTLSNYDSCSSSHSSIKGQHPPCGLSSARAADIQSYMDMLNPELGL
PRGTIGKPTPPPPPPSFPPPPPPPGTQLPPPPPGYPAPKPPVGPQAADIYMQTKNKLRHV
ETEALKKELSSCDGHDGLRRQDSSRKPRAFSKQPSTGDYYRQLGRCPGETLAARPGMAHS
EEVRARQPARAGCPRLGPAARGSLEGPSAPPQAALLPGNHVPNGCAADPKASRELPPPPP
PPPPPLPEAASSPPPAPPLPLESAGPGCGQRRSSSSTGSTKSFNMMSPTGDNSELLAEIK
AGKSLKPTPQSKGLTTVFSGIGQPAFQPDSPLPSVSPALSPVRSPTPPAAGFQPLLNGSL
VPVPPTTPAPGVQLDVEALIPTHDEQGRPIPEWKRQVMVRKMQLKMQEEEEQRRKEEEEE
ARLASMPAWRRDLLRKKLEEEREQKRKEEERQKQEELRREKEQSEKLRTLGYDESKLAPW
QRQVILKKGDIAKY
NT seq
2565 nt
NT seq
+upstream
nt +downstream
nt
atggccctggagcaggcgctgcaggcggcgcggcagggcgagctggacgtgctgaggtcg
ctgcacgccgcaggcctcctggggccctcgctgcgcgacccgctggacgcgctgcccgtg
caccacgcggcccgcgctgggaagctgcactgtctgcgcttcctggtggaggaagccgcc
ctccccgccgcggcccgcgcccgcaacggcgccacaccggcccacgacgcctccgccacc
ggccacctcgcctgcctgcagtggctgctgtcgcagggcggctgcagagtgcaggacaaa
gacaattctggtgccacagtcttgcatctggctgcccgcttcggccaccccgaggtggtg
aactggctcttgcatcatggcggtggggaccccaccgcggccacagacatgggcgccctg
cctatccactacgctgccgccaaaggagacttcccctccctgaggcttctcgtcgagcac
taccctgagggagtgaatgcccaaaccaagaacggtgccacgcccctgtacctggcgtgc
caggagggccacctggaggtgacccagtacctggtgcaggaatgcggcgcagacccgcac
gcgcgcgcccacgacggcatgaccccgctgcacgccgcggcgcagatgggccacagccca
gtcatcgtgtggttggtgagctgcaccgacgtgagcctgtccgagcaggacaaagacggc
gccaccgccatgcacttcgcggcgagccgcggccacaccaaggtgctcagctggctgctg
ctgcacggcggggagatctcggctgacctgtggggcgggaccccgctgcacgacgccgcc
gagaacggggagctagagtgctgccagatcctggtagtgaacggcgcggagctggacgtc
cgcgaccgcgacgggtacacggccgccgacctgtcggacttcaacggccacagccactgc
acccgctacctgcgcacggtggagaacctgagcgtggagcaccgcgtgctttcccgggat
ccatccgcagagctggaggctaagcagccggattcaggcatgtcctcacccaataccacg
gtgtcggtccagccgctgaactttgacctcagctcgcctaccagcaccctctccaactac
gactcctgctcctccagccactccagcatcaagggccagcaccctccatgtgggctttcc
agcgctagagctgcagacatacagagctacatggacatgctgaacccggagctgggcctg
cctcggggcacgattgggaagcccacacccccaccacccccacccagcttccccccgcca
cccccgcccccaggcacccaactgcccccacccccacctggctacccagctcccaagcct
cctgtaggaccacaggcagctgacatctacatgcagaccaagaacaaactccgccacgtg
gagacagaggccctcaagaaggagctgagctcctgtgacggccacgacgggctgcggagg
caggactccagccgcaagccccgcgccttcagcaagcagcccagcacgggggactactac
cggcagctgggccgctgccccggcgagacgctggccgcacgcccgggcatggcgcacagc
gaggaggtgcgtgcccgccagcccgcgcgcgccggctgcccgcgcctcggccctgccgcc
cgcggctcactcgaaggcccctccgctcccccgcaggcggcgctgcttcctgggaaccat
gttcctaacggctgcgccgcggaccccaaggcgtccagggagctgccaccgccgccccca
ccgccgccgccgcccctgccggaggccgcgagttcgccaccgccggccccgcctctgccc
ctcgagagcgctggccctggctgcgggcagcgccgctcctcctcgtccaccggcagcacc
aagtctttcaacatgatgtccccgacgggcgacaactcggagctactggctgagattaag
gcaggcaagagcctgaagccgacgccccagagcaaggggctgaccacagtgttctcaggc
atcgggcagccggccttccagcccgattcgccgctgccttctgtgtcacctgcactgtca
ccagtccggagccccacaccgccagctgcggggtttcagccgctgctcaatggaagcttg
gttcccgtgccgcccactactcctgcgccgggagtgcagctggacgtggaggctctcatc
cccacgcacgatgagcagggccggcccatccccgagtggaagcgccaggtgatggtgcgc
aagatgcagctgaagatgcaggaggaggaggagcagaggcggaaggaggaggaggaggag
gcccggctggccagcatgcccgcctggaggcgggacctcctgcggaagaagctggaagaa
gagagggagcagaagcggaaagaggaggagcgacagaagcaggaggagctgcggcgggag
aaggaacagtcagagaagctgcggacgctgggctacgatgagagcaagctggcgccctgg
cagcgacaggtcatcctgaagaagggggacatcgctaagtactag
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