KEGG   Homo sapiens (human): 79574
Entry
79574             CDS       T01001                                 
Symbol
EPS8L3, EPS8R3, HYPT5
Name
(RefSeq) EPS8 signaling adaptor L3
  KO
K17277  epidermal growth factor receptor kinase substrate 8
Organism
hsa  Homo sapiens (human)
Disease
H00786  Hypotrichosis
H00858  Marie-Unna hereditary hypotrichosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    79574 (EPS8L3)
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    79574 (EPS8L3)
   04147 Exosome [BR:hsa04147]
    79574 (EPS8L3)
Membrane trafficking [BR:hsa04131]
 Autophagy
  Chaperone mediated autophagy (CMA)
   Selective cargos
    79574 (EPS8L3)
Cilium and associated proteins [BR:hsa03037]
 Other cilia and associated proteins
  Stereociliary proteins
   79574 (EPS8L3)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of epithelial cells
   79574 (EPS8L3)
SSDB
Motif
Pfam: PTB SAM_3 SH3_1 SH3_2 SH3_9 SH3_3 SH3_10 hSH3
Other DBs
NCBI-GeneID: 79574
NCBI-ProteinID: NP_573444
OMIM: 614989
HGNC: 21297
Ensembl: ENSG00000198758
UniProt: Q8TE67
Structure
LinkDB
Position
1:complement(109750080..109763923)
AA seq 593 aa
MSRPSSRAIYLHRKEYSQNLTSEPTLLQHRVEHLMTCKQGSQRVQGPEDALQKLFEMDAQ
GRVWSQDLILQVRDGWLQLLDIETKEELDSYRLDSIQAMNVALNTCSYNSILSITVQEPG
LPGTSTLLFQCQEVGAERLKTSLQKALEEELEQRPRLGGLQPGQDRWRGPAMERPLPMEQ
ARYLEPGIPPEQPHQRTLEHSLPPSPRPLPRHTSAREPSAFTLPPPRRSSSPEDPERDEE
VLNHVLRDIELFMGKLEKAQAKTSRKKKFGKKNKDQGGLTQAQYIDCFQKIKHSFNLLGR
LATWLKETSAPELVHILFKSLNFILARCPEAGLAAQVISPLLTPKAINLLQSCLSPPESN
LWMGLGPAWTTSRADWTGDEPLPYQPTFSDDWQLPEPSSQAPLGYQDPVSLRRGSHRLGS
TSHFPQEKTHNHDPQPGDPNSRPSSPKPAQPALKMQVLYEFEARNPRELTVVQGEKLEVL
DHSKRWWLVKNEAGRSGYIPSNILEPLQPGTPGTQGQSPSRVPMLRLSSRPEEVTDWLQA
ENFSTATVRTLGSLTGSQLLRIRPGELQMLCPQEAPRILSRLEAVRRMLGISP
NT seq 1782 nt   +upstreamnt  +downstreamnt
atgtcaaggcccagcagcagagccatttacttgcaccggaaggagtactcccagaacctc
acctcagagcccaccctcctgcagcacagggtggagcacttgatgacatgcaagcagggg
agtcagagagtccaggggcccgaggatgccttgcagaagctgttcgagatggatgcacag
ggccgggtgtggagccaagacttgatcctgcaggtcagggacggctggctgcagctgctg
gacattgagaccaaggaggagctggactcttaccgcctagacagcatccaggccatgaat
gtggcgctcaacacatgttcctacaactccatcctgtccatcaccgtgcaggagccgggc
ctgccaggcactagcactctgctcttccagtgccaggaagtgggggcagagcgactgaag
accagcctgcagaaggctctggaggaagagctggagcaaagacctcgacttggaggcctt
cagccaggccaggacagatggagggggcctgctatggaaaggccgctccctatggagcag
gcacgctatctggagccggggatccctccagaacagccccaccagaggaccctagagcac
agcctcccaccatccccaaggcccctgccacgccacaccagtgcccgagaaccaagtgcc
tttactctgcctcctccaaggcggtcctcttcccccgaggacccagagagggacgaggaa
gtgctgaaccatgtcctaagggacattgagctgttcatgggaaagctggagaaggcccag
gcaaagaccagcaggaagaagaaatttgggaaaaaaaacaaggaccagggaggtctcacc
caggcacagtacattgactgcttccagaagatcaagcacagcttcaacctcctgggaagg
ctggccacctggctgaaggagacaagtgcccctgagctcgtacacatcctcttcaagtcc
ctgaacttcatcctggccaggtgccctgaggctggcctagcagcccaagtgatctcaccc
ctcctcacccctaaagctatcaacctgctacagtcctgtctaagcccacctgagagtaac
ctttggatggggttgggcccagcctggaccactagccgggccgactggacaggcgatgag
cccctgccctaccaacccacattctcagatgactggcaacttccagagccctccagccaa
gcacccttaggataccaggaccctgtttcccttcggcggggaagtcataggttagggagc
acctcacactttcctcaggagaagacacacaaccatgaccctcagcctggggaccccaac
tccaggccctccagccccaaacctgcccagccagccctgaaaatgcaagtcttgtacgag
tttgaagctaggaacccacgggaactgactgtggtccagggagagaagctggaggttctg
gaccacagcaagcggtggtggctggtgaagaatgaggcgggacggagcggctacattcca
agcaacatcctggagcccctacagccggggacccctgggacccagggccagtcaccctct
cgggttccaatgcttcgacttagctcgaggcctgaagaggtcacagactggctgcaggca
gagaacttctccactgccacggtgaggacacttgggtccctgacggggagccagctactt
cgcataagacctggggagctacagatgctatgtccacaggaggccccacgaatcctgtcc
cggctggaggctgtcagaaggatgctggggataagcccttag

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