KEGG   Homo sapiens (human): 26175
Entry
26175             CDS       T01001                                 
Symbol
LYSET, C14orf109, DMAN, GCAF, TMEM251
Name
(RefSeq) lysosomal enzyme trafficking factor isoform 1
  KO
K26747  lysosomal enzyme trafficking factor
Organism
hsa  Homo sapiens (human)
Pathway
hsa04142  Lysosome biogenesis
Network
nt06550  Lysosome biogenesis
  Element
N02014  M6P modification of lysosomal enzyme (LE) and binding to M6P-specific receptors
Disease
H02729  Ain-Naz type of dysostosis multiplex
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome biogenesis
    26175 (LYSET)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    26175 (LYSET)
Membrane trafficking [BR:hsa04131]
 Endosome - Golgi transport
  Others
   Others
    26175 (LYSET)
SSDB
Motif
Pfam: TMEM251 DUF4064 DUF2231
Other DBs
NCBI-GeneID: 26175
NCBI-ProteinID: NP_001092091
OMIM: 619332
HGNC: 20218
Ensembl: ENSP00000388431.3
UniProt: Q8N6I4
LinkDB
Position
14:93184974..93188463
AA seq 163 aa
MPKPPDYSELSDSLTLAVGTGRFSGPLHRAWRMMNFRQRMGWIGVGLYLLASAAAFYYVF
EISETYNRLALEHIQQHPEEPLEGTTWTHSLKAQLLSLPFWVWTVIFLVPYLQMFLFLYS
CTRADPKTVGYCIIPICLAVICNRHQAFVKASNQISRLQLIDT
NT seq 492 nt   +upstreamnt  +downstreamnt
atgccaaagccacccgattattcagagctgagtgactctttaacgcttgccgtgggaaca
ggaagattttcgggaccattgcacagagcatggagaatgatgaacttccgtcagcggatg
ggatggattggagtgggattgtatctgttagccagtgcagcagcattttactatgttttt
gaaatcagtgagacttacaacaggctggccttggaacacattcaacagcaccctgaggag
ccccttgaaggaaccacatggacacactccttgaaagctcaattactctccttgcctttt
tgggtgtggacagttatttttctggtaccttacttacagatgtttttgttcctatactct
tgtacaagagctgatcccaaaacagtgggctactgtatcatccctatatgcttggcagtt
atttgcaatcgccaccaggcatttgtcaaggcttctaatcagatcagcagactacaactg
attgacacgtaa

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