KEGG   Homo sapiens (human): 2760
Entry
2760              CDS       T01001                                 
Symbol
GM2A, GM2-AP, GM2AP, SAP-3
Name
(RefSeq) ganglioside GM2 activator isoform 1 precursor
  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)
SSDB
Motif
Pfam: E1_DerP2_DerF2 DUF1091
Other DBs
NCBI-GeneID: 2760
NCBI-ProteinID: NP_000396
OMIM: 613109
HGNC: 4367
Ensembl: ENSP00000349687.3
UniProt: P17900
Structure
Position
5:151253185..151270440
AA seq 193 aa
MQSLMQAPLLIALGLLLAAPAQAHLKKPSQLSSFSWDNCDEGKDPAVIRSLTLEPDPIIV
PGNVTLSVMGSTSVPLSSPLKVDLVLEKEVAGLWIKIPCTDYIGSCTFEHFCDVLDMLIP
TGEPCPEPLRTYGLPCHCPFKEGTYSLPKSEFVVPDLELPSWLTTGNYRIESVLSSSGKR
LGCIKIAASLKGI
NT seq 582 nt   +upstreamnt  +downstreamnt
atgcagtccctgatgcaggctcccctcctgatcgccctgggcttgcttctcgcggcccct
gcgcaagcccacctgaaaaagccatcccagctcagtagcttttcctgggataactgtgat
gaagggaaggaccctgcggtgatcagaagcctgactctggagcctgaccccatcatcgtt
cctggaaatgtgaccctcagtgtcatgggcagcaccagtgtccccctgagttctcctctg
aaggtggatttagttttggagaaggaggtggctggcctctggatcaagatcccatgcaca
gactacattggcagctgtacctttgaacacttctgtgatgtgcttgacatgttaattcct
actggggagccctgcccagagcccctgcgtacctatgggcttccttgccactgtcccttc
aaagaaggaacctactcactgcccaagagcgaattcgttgtgcctgacctggagctgccc
agttggctcaccaccgggaactaccgcatagagagcgtcctgagcagcagtgggaagcgt
ctgggctgcatcaagatcgctgcctctctaaagggcatataa

  All links  
Disease (2)   
   OMIM (2)   
Gene (8)   
   RefGene (2)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (4)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (26)   
   RefSeq(nuc) (2)   
   GenBank (12)   
   EMBL (12)   
3D Structure (8)   
   PDB (8)   
Protein domain (2)   
   Pfam (2)   
All databases (50)   

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