KEGG   Homo sapiens (human): 83715
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
Motif
Pfam: Ank_2 Ank_4 Ank Ank_5 Ank_3 Ank_KRIT1 WH2
Other DBs
NCBI-GeneID: 83715
NCBI-ProteinID: NP_113663
OMIM: 606351
HGNC: 13281
Ensembl: ENSP00000496593.1
UniProt: B1AK53
LinkDB
Position
1:6424776..6461370
AA seq 854 aa
MALEQALQAARQGELDVLRSLHAAGLLGPSLRDPLDALPVHHAARAGKLHCLRFLVEEAA
LPAAARARNGATPAHDASATGHLACLQWLLSQGGCRVQDKDNSGATVLHLAARFGHPEVV
NWLLHHGGGDPTAATDMGALPIHYAAAKGDFPSLRLLVEHYPEGVNAQTKNGATPLYLAC
QEGHLEVTQYLVQECGADPHARAHDGMTPLHAAAQMGHSPVIVWLVSCTDVSLSEQDKDG
ATAMHFAASRGHTKVLSWLLLHGGEISADLWGGTPLHDAAENGELECCQILVVNGAELDV
RDRDGYTAADLSDFNGHSHCTRYLRTVENLSVEHRVLSRDPSAELEAKQPDSGMSSPNTT
VSVQPLNFDLSSPTSTLSNYDSCSSSHSSIKGQHPPCGLSSARAADIQSYMDMLNPELGL
PRGTIGKPTPPPPPPSFPPPPPPPGTQLPPPPPGYPAPKPPVGPQAADIYMQTKNKLRHV
ETEALKKELSSCDGHDGLRRQDSSRKPRAFSKQPSTGDYYRQLGRCPGETLAARPGMAHS
EEVRARQPARAGCPRLGPAARGSLEGPSAPPQAALLPGNHVPNGCAADPKASRELPPPPP
PPPPPLPEAASSPPPAPPLPLESAGPGCGQRRSSSSTGSTKSFNMMSPTGDNSELLAEIK
AGKSLKPTPQSKGLTTVFSGIGQPAFQPDSPLPSVSPALSPVRSPTPPAAGFQPLLNGSL
VPVPPTTPAPGVQLDVEALIPTHDEQGRPIPEWKRQVMVRKMQLKMQEEEEQRRKEEEEE
ARLASMPAWRRDLLRKKLEEEREQKRKEEERQKQEELRREKEQSEKLRTLGYDESKLAPW
QRQVILKKGDIAKY
NT seq 2565 nt   +upstreamnt  +downstreamnt
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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