KEGG   Homo sapiens (human): 2059
Entry
2059              CDS       T01001                                 
Symbol
EPS8, DFNB102
Name
(RefSeq) EGFR pathway substrate 8, signaling adaptor
  KO
K17277  epidermal growth factor receptor kinase substrate 8
Organism
hsa  Homo sapiens (human)
Disease
H00605  Deafness, autosomal recessive
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    2059 (EPS8)
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    2059 (EPS8)
   04147 Exosome [BR:hsa04147]
    2059 (EPS8)
Membrane trafficking [BR:hsa04131]
 Autophagy
  Chaperone mediated autophagy (CMA)
   Selective cargos
    2059 (EPS8)
Cilium and associated proteins [BR:hsa03037]
 Other cilia and associated proteins
  Stereociliary proteins
   2059 (EPS8)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of epithelial cells
   2059 (EPS8)
SSDB
Motif
Pfam: PTB SAM_3 SH3_1 SH3_2 SH3_9 PID SH3_3 SAM_PNT
Other DBs
NCBI-GeneID: 2059
NCBI-ProteinID: NP_004438
OMIM: 600206
HGNC: 3420
Ensembl: ENSG00000151491
UniProt: Q12929 B4E3T6
Structure
Position
12:complement(15620134..15789388)
AA seq 822 aa
MNGHISNHPSSFGMYPSQMNGYGSSPTFSQTDREHGSKTSAKALYEQRKNYARDSVSSVS
DISQYRVEHLTTFVLDRKDAMITVDDGIRKLKLLDAKGKVWTQDMILQVDDRAVSLIDLE
SKNELENFPLNTIQHCQAVMHSCSYDSVLALVCKEPTQNKPDLHLFQCDEVKANLISEDI
ESAISDSKGGKQKRRPDALRMISNADPSIPPPPRAPAPAPPGTVTQVDVRSRVAAWSAWA
ADQGDFEKPRQYHEQEETPEMMAARIDRDVQILNHILDDIEFFITKLQKAAEAFSELSKR
KKNKKGKRKGPGEGVLTLRAKPPPPDEFLDCFQKFKHGFNLLAKLKSHIQNPSAADLVHF
LFTPLNMVVQATGGPELASSVLSPLLNKDTIDFLNYTVNGDERQLWMSLGGTWMKARAEW
PKEQFIPPYVPRFRNGWEPPMLNFMGATMEQDLYQLAESVANVAEHQRKQEIKRLSTEHS
SVSEYHPADGYAFSSNIYTRGSHLDQGEAAVAFKPTSNRHIDRNYEPLKTQPKKYAKSKY
DFVARNNSELSVLKDDILEILDDRKQWWKVRNASGDSGFVPNNILDIVRPPESGLGRADP
PYTHTIQKQRMEYGPRPADTPPAPSPPPTPAPVPVPLPPSTPAPVPVSKVPANITRQNSS
SSDSGGSIVRDSQRHKQLPVDRRKSQMEEVQDELIHRLTIGRSAAQKKFHVPRQNVPVIN
ITYDSTPEDVKTWLQSKGFNPVTVNSLGVLNGAQLFSLNKDELRTVCPEGARVYSQITVQ
KAALEDSSGSSELQEIMRRRQEKISAAASDSGVESFDEGSSH
NT seq 2469 nt   +upstreamnt  +downstreamnt
atgaatggtcatatttctaatcatcccagtagttttggaatgtacccatctcagatgaat
ggctacggatcatcacctaccttttcccagacggacagagaacatggttcaaaaacaagt
gcaaaggccctttatgaacaaaggaagaattatgcacgggacagtgtcagcagtgtgtca
gatatatctcaataccgtgttgaacacttgactacctttgtcctggatcggaaagatgct
atgatcactgttgatgatggaataaggaaattgaaattgcttgatgccaagggcaaagtg
tggactcaagatatgattcttcaagtggatgacagagctgtgagcctgattgatttagaa
tcaaagaatgaactggagaattttcctttaaacacaatccagcactgccaagctgtgatg
cattcatgcagctatgattcagttcttgcactggtgtgcaaagagccaacccagaacaag
ccagatcttcatctcttccagtgtgatgaggttaaggcaaacctaattagtgaagatatt
gaaagtgcaatcagtgacagtaaaggagggaaacagaagaggcggcccgacgccctgagg
atgatttccaatgcagaccctagtataccgcctccacccagagctcctgcccctgcgccc
cctgggaccgtcacccaggtggatgttagaagtcgagtggcagcctggtctgcatgggca
gccgaccaaggggactttgagaaaccaaggcagtatcatgagcaggaagaaacacctgag
atgatggcagcccgcattgacagagatgtgcaaatcttaaaccacattttggatgacatt
gaattttttatcacaaaactccaaaaagcagcagaagcattttctgagctttctaaaagg
aagaaaaacaagaaaggtaaaaggaaaggaccaggagagggtgttttaacgctgcgggca
aaacctccacctcctgatgaatttcttgactgtttccaaaagtttaaacacggatttaac
cttctggccaaactgaagtctcatattcagaatcctagtgctgcagatttggttcacttt
ttgtttactccattaaatatggtggtgcaggcaacaggaggtcctgaactagccagttca
gtacttagtcccctattgaataaggacacaattgatttcttaaattatactgtcaatggt
gatgaacggcagctgtggatgtcattgggaggaacttggatgaaagccagagcagagtgg
ccaaaagaacagtttattccaccatatgttccacgattccgcaatggctgggagccccca
atgctgaactttatgggagccacaatggaacaagatctttatcaactggcagaatctgtg
gcaaatgtagcagaacatcagcgcaaacaggaaataaaaagattatccacagagcattcc
agtgtatcagagtatcatccagccgatggctatgcgttcagtagcaacatttacacaaga
ggatcccacctggaccaaggggaagctgctgttgcttttaagccaacttctaatcgccat
atagatagaaattatgaaccactcaaaacacaacccaagaaatatgccaaatccaagtat
gactttgtagcaaggaacaacagtgagctctcggttctaaaggatgatattttagagata
cttgatgatcggaagcaatggtggaaagttcgaaatgcaagtggagactctggatttgtg
ccaaataacattttggatattgtgagacctccagaatctggattggggcgtgctgatcca
ccttatactcatactatacagaaacaaaggatggagtatggcccaagaccagctgatact
ccccctgctccatcacctcctccaacaccagctcctgttcctgttccccttcccccttcc
actccagcacctgttcctgtgtcaaaggtcccagcaaatataacacgtcaaaacagcagc
tccagtgacagtggtggcagtatcgtgcgagacagccagagacacaaacaacttccggtg
gaccgaaggaaatctcagatggaggaagtgcaagatgaactcatccacagactgaccatt
ggtcggagtgccgctcagaagaaattccatgtgccacggcagaacgtgccagttatcaat
atcacttacgactccacaccagaggatgtgaagacgtggttacagtcaaagggattcaac
cctgtgactgtcaatagtcttggagtattaaatggtgcacaacttttctctctcaataag
gatgaactgaggacagtctgccctgaaggggcgagagtctatagccaaatcactgtacaa
aaagctgcattggaggatagcagtggcagctccgagttacaagaaattatgagaagacga
caggaaaaaatcagtgctgccgctagtgattcaggagtggaatcttttgatgaaggaagc
agtcactaa

  All links  
Ontology (4)   
   KEGG BRITE (4)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (24)   
   KEGG ORTHOLOGY (1)   
   RefGene (7)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (11)   
   OC (1)   
Protein sequence (28)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (25)   
DNA sequence (52)   
   RefSeq(nuc) (28)   
   GenBank (12)   
   EMBL (12)   
3D Structure (2)   
   PDB (2)   
Protein domain (8)   
   Pfam (8)   
All databases (122)   

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