Homo sapiens (human): 2760
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Entry
2760 CDS
T01001
Symbol
GM2A, GM2-AP, GM2AP, SAP-3
Name
(RefSeq) ganglioside GM2 activator
KO
K12383
ganglioside GM2 activator
Organism
hsa
Homo sapiens (human)
Pathway
hsa00600
Sphingolipid metabolism
hsa04142
Lysosome
Network
nt06014
Sphingolipid degradation
Element
N01713
GM2A activation of HEXA and HEXB
N01714
Loss of GM2A activation
Disease
H00124
GM2 gangliosidoses
H00426
Gangliosidosis
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09100 Metabolism
09103 Lipid metabolism
00600 Sphingolipid metabolism
2760 (GM2A)
09140 Cellular Processes
09141 Transport and catabolism
04142 Lysosome
2760 (GM2A)
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
04147 Exosome [BR:
hsa04147
]
2760 (GM2A)
Exosome [BR:
hsa04147
]
Exosomal proteins
Exosomal proteins of other body fluids (saliva and urine)
2760 (GM2A)
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SSDB
Ortholog
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Gene cluster
GFIT
Motif
Pfam:
E1_DerP2_DerF2
DUF1091
Motif
Other DBs
NCBI-GeneID:
2760
NCBI-ProteinID:
NP_000396
OMIM:
613109
HGNC:
4367
Ensembl:
ENSG00000196743
UniProt:
P17900
Structure
PDB
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All DBs
Position
5:151253185..151270440
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AA seq
193 aa
AA seq
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MQSLMQAPLLIALGLLLAAPAQAHLKKPSQLSSFSWDNCDEGKDPAVIRSLTLEPDPIIV
PGNVTLSVMGSTSVPLSSPLKVDLVLEKEVAGLWIKIPCTDYIGSCTFEHFCDVLDMLIP
TGEPCPEPLRTYGLPCHCPFKEGTYSLPKSEFVVPDLELPSWLTTGNYRIESVLSSSGKR
LGCIKIAASLKGI
NT seq
582 nt
NT seq
+upstream
nt +downstream
nt
atgcagtccctgatgcaggctcccctcctgatcgccctgggcttgcttctcgcggcccct
gcgcaagcccacctgaaaaagccatcccagctcagtagcttttcctgggataactgtgat
gaagggaaggaccctgcggtgatcagaagcctgactctggagcctgaccccatcatcgtt
cctggaaatgtgaccctcagtgtcatgggcagcaccagtgtccccctgagttctcctctg
aaggtggatttagttttggagaaggaggtggctggcctctggatcaagatcccatgcaca
gactacattggcagctgtacctttgaacacttctgtgatgtgcttgacatgttaattcct
actggggagccctgcccagagcccctgcgtacctatgggcttccttgccactgtcccttc
aaagaaggaacctactcactgcccaagagcgaattcgttgtgcctgacctggagctgccc
agttggctcaccaccgggaactaccgcatagagagcgtcctgagcagcagtgggaagcgt
ctgggctgcatcaagatcgctgcctctctaaagggcatataa
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integrated database retrieval system