KEGG   Homo sapiens (human): 11267
Entry
11267             CDS       T01001                                 
Symbol
SNF8, DEE115, Dot3, EAP30, NEDOA, VPS22
Name
(RefSeq) SNF8 subunit of ESCRT-II
  KO
K12188  ESCRT-II complex subunit VPS22
Organism
hsa  Homo sapiens (human)
Pathway
hsa04144  Endocytosis
Disease
H00606  Early infantile epileptic encephalopathy
H02459  Syndromic neurodevelopmental disorder
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04144 Endocytosis
    11267 (SNF8)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    11267 (SNF8)
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    11267 (SNF8)
Membrane trafficking [BR:hsa04131]
 Endosome - Lysosome transport
  Endosomal sorting complexes required for transport (ESCRT)
   ESCRT-II complex
    11267 (SNF8)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   11267 (SNF8)
SSDB
Motif
Pfam: EAP30 AbiEi_4 EutK_C MarR_2 RPA_interact_C Plasmid_RAQPRD DUF4896
Other DBs
NCBI-GeneID: 11267
NCBI-ProteinID: NP_009172
OMIM: 610904
HGNC: 17028
Ensembl: ENSG00000159210
UniProt: Q96H20
Structure
LinkDB
Position
17:complement(48929316..48944842)
AA seq 258 aa
MHRRGVGAGAIAKKKLAEAKYKERGTVLAEDQLAQMSKQLDMFKTNLEEFASKHKQEIRK
NPEFRVQFQDMCATIGVDPLASGKGFWSEMLGVGDFYYELGVQIIEVCLALKHRNGGLIT
LEELHQQVLKGRGKFAQDVSQDDLIRAIKKLKALGTGFGIIPVGGTYLIQSVPAELNMDH
TVVLQLAEKNGYVTVSEIKASLKWETERARQVLEHLLKEGLAWLDLQAPGEAHYWLPALF
TDLYSQEITAEEAREALP
NT seq 777 nt   +upstreamnt  +downstreamnt
atgcaccgccgcggggtgggagctggcgccatcgccaagaagaaacttgcagaggccaag
tataaggagcgagggacggtcttggctgaggaccagctagcccagatgtcaaagcagttg
gacatgttcaagaccaacctggaggaatttgccagcaaacacaagcaggagatccggaag
aatcctgagttccgtgtgcagttccaggacatgtgtgcaaccattggcgtggatccgctg
gcctctggaaaaggattttggtctgagatgctgggcgtgggggacttctattacgaacta
ggtgtccaaattatcgaagtgtgcctggcgctgaagcatcggaatggaggtctgataact
ttggaggaactacatcaacaggtgttgaagggaaggggcaagttcgcccaggatgtcagt
caagatgacctgatcagagccatcaagaaactaaaggcacttggcactggcttcggcatc
atccctgtgggcggcacttacctcattcagtctgttccagctgagctcaatatggatcac
accgtggtgctgcagctggcagagaagaatggctacgtgactgtcagtgagatcaaagcc
agtcttaaatgggagaccgagcgagcgcggcaagtgctggaacacctgctgaaggaaggg
ttggcgtggctggacttacaggccccaggggaggcccactactggctgccagctctcttc
actgacctctactcccaggagattacagctgaggaggccagagaagccctcccctga

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