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  Defects in the degradation of ganglioside
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Cellular Processes
  Transport and catabolism
   04142 Lysosome
    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
LinkDB All DBs
Structure
PDB: 

Jmol
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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