KEGG   Homo sapiens (human): 83715
Entry
83715             CDS       T01001                                 
Symbol
ESPN, DFNB36, LP2654, USH1M
Name
(RefSeq) espin
  KO
K24047  espin
Organism
hsa  Homo sapiens (human)
Disease
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 WH2
Other DBs
NCBI-GeneID: 83715
NCBI-ProteinID: NP_113663
OMIM: 606351
HGNC: 13281
Ensembl: ENSG00000187017
UniProt: B1AK53
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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Ontology (3)   
   KEGG BRITE (3)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (33)   
   KEGG ORTHOLOGY (1)   
   RefGene (27)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (27)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (25)   
DNA sequence (35)   
   RefSeq(nuc) (25)   
   GenBank (5)   
   EMBL (5)   
Protein domain (6)   
   Pfam (6)   
All databases (110)   

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