Homo sapiens (human): 26175
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Entry
26175 CDS
T01001
Symbol
LYSET, C14orf109, DMAN, GCAF, TMEM251
Name
(RefSeq) lysosomal enzyme trafficking factor
KO
K26747
lysosomal enzyme trafficking factor
Organism
hsa
Homo sapiens (human)
Disease
H02729
Ain-Naz type of dysostosis multiplex
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
TMEM251
DUF4064
DUF2231
Motif
Other DBs
NCBI-GeneID:
26175
NCBI-ProteinID:
NP_001092091
OMIM:
619332
HGNC:
20218
Ensembl:
ENSG00000153485
UniProt:
Q8N6I4
LinkDB
All DBs
Position
14:93184974..93188463
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AA seq
163 aa
AA seq
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MPKPPDYSELSDSLTLAVGTGRFSGPLHRAWRMMNFRQRMGWIGVGLYLLASAAAFYYVF
EISETYNRLALEHIQQHPEEPLEGTTWTHSLKAQLLSLPFWVWTVIFLVPYLQMFLFLYS
CTRADPKTVGYCIIPICLAVICNRHQAFVKASNQISRLQLIDT
NT seq
492 nt
NT seq
+upstream
nt +downstream
nt
atgccaaagccacccgattattcagagctgagtgactctttaacgcttgccgtgggaaca
ggaagattttcgggaccattgcacagagcatggagaatgatgaacttccgtcagcggatg
ggatggattggagtgggattgtatctgttagccagtgcagcagcattttactatgttttt
gaaatcagtgagacttacaacaggctggccttggaacacattcaacagcaccctgaggag
ccccttgaaggaaccacatggacacactccttgaaagctcaattactctccttgcctttt
tgggtgtggacagttatttttctggtaccttacttacagatgtttttgttcctatactct
tgtacaagagctgatcccaaaacagtgggctactgtatcatccctatatgcttggcagtt
atttgcaatcgccaccaggcatttgtcaaggcttctaatcagatcagcagactacaactg
attgacacgtaa
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