KEGG   Homo sapiens (human): 2760Help
Entry
2760              CDS       T01001                                 

Gene name
GM2A, GM2-AP, SAP-3
Definition
(RefSeq) GM2 ganglioside activator
  KO
K12383  ganglioside GM2 activator
Organism
hsa  Homo sapiens (human)
Pathway
hsa04142  Lysosome
Disease
H00124  GM2 gangliosidoses
H00426  Gangliosidosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: E1_DerP2_DerF2 DUF1091
Motif
Other DBs
NCBI-GeneID: 2760
NCBI-ProteinID: NP_000396
OMIM: 613109
HGNC: 4367
Ensembl: ENSG00000196743
Vega: OTTHUMG00000130124
Pharos: P17900(Tbio)
UniProt: P17900
Structure
PDB: 

Position
5q33.1
AA seq 193 aa AA seqDB search
MQSLMQAPLLIALGLLLAAPAQAHLKKPSQLSSFSWDNCDEGKDPAVIRSLTLEPDPIIV
PGNVTLSVMGSTSVPLSSPLKVDLVLEKEVAGLWIKIPCTDYIGSCTFEHFCDVLDMLIP
TGEPCPEPLRTYGLPCHCPFKEGTYSLPKSEFVVPDLELPSWLTTGNYRIESVLSSSGKR
LGCIKIAASLKGI
NT seq 582 nt NT seq  +upstreamnt  +downstreamnt
atgcagtccctgatgcaggctcccctcctgatcgccctgggcttgcttctcgcggcccct
gcgcaagcccacctgaaaaagccatcccagctcagtagcttttcctgggataactgtgat
gaagggaaggaccctgcggtgatcagaagcctgactctggagcctgaccccatcatcgtt
cctggaaatgtgaccctcagtgtcatgggcagcaccagtgtccccctgagttctcctctg
aaggtggatttagttttggagaaggaggtggctggcctctggatcaagatcccatgcaca
gactacattggcagctgtacctttgaacacttctgtgatgtgcttgacatgttaattcct
actggggagccctgcccagagcccctgcgtacctatgggcttccttgccactgtcccttc
aaagaaggaacctactcactgcccaagagcgaattcgttgtgcctgacctggagctgccc
agttggctcaccaccgggaactaccgcatagagagcgtcctgagcagcagtgggaagcgt
ctgggctgcatcaagatcgctgcctctctaaagggcatataa

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