Basic Information | Overview of PTM Sites | Experimental PTM Sites | Protein-Protein Interactions | Drug and Disease Associations | Related Literatures
Basic Information
Protein Name :  Ganglioside GM2 activator  

UniProtKB / Swiss-Prot ID :  SAP3_HUMAN

Gene Name (Synonyms) : 
GM2A  

Species :  Homo sapiens (Human). 

Subcellular Localization :  Lysosome. 

Protein Function :  The large binding pocket can accommodate several single chain phospholipids and fatty acids, GM2A also exhibits some calcium-independent phospholipase activity (By similarity). Binds gangliosides and stimulates ganglioside GM2 degradation. It stimulates only the breakdown of ganglioside GM2 and glycolipid GA2 by beta-hexosaminidase A. It extracts single GM2 molecules from membranes and presents them in soluble form to beta- hexosaminidase A for cleavage of N-acetyl-D-galactosamine and conversion to GM3. 

Protein Sequence MQSLMQAPLLIALGLLLAAPAQAHLKKPSQLSSFSWDNCDEGKDPAVIRSLTLEPDPIIVPGNVTLSVMG...
Predicted Secondary Structure CCHHHHHHHHHHHHHHHCCCHHHHHHHHHHHCCCCCCCCCCCCCCCEEEEEEECCCCEEECCCEEEEEEE...
Protein Variant
LocationDescription
19A -> T (in dbSNP:rs1048719). VAR_013830
59I -> V (in dbSNP:rs153477). VAR_036892
69M -> V (in dbSNP:rs153478). VAR_036893
88Missing (in GM2GAB). VAR_011697
138C -> R (in GM2GAB). VAR_006947
169R -> P (in GM2GAB). VAR_011698
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Overview of Protein Modification Sites with Functional and Structural Information
Accessible Surface Area (ASA)
Pred. Secondary
Real Secondary
Disorder Prediction
Protein Domain
&
Experimental PTM Sites
Predicted PTM Sites
Protein Variant
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Experimental Post-Translational Modification Sites Download
Locations
Modification
Substrate Sites
&
Secondary Structure
Accessible Surface Area (%)
Resource
Reference
Structural Characterization
Orthologous
Protein Cluster
39S-cysteinyl 3-(oxidosulfanyl)alanine (Cys-Cys)SWDNCDEGK
CCCCCCCCC
4.70HPRD
Link
63N-linked (GlcNAc...).IVPGNVTLS
EECCCEEEE
19.96UniProtKB
Link
99S-cysteinyl 3-(oxidosulfanyl)alanine (Cys-Cys)IKIPCTDYI
EEECCHHHC
5.28HPRD
Link
106S-cysteinyl 3-(oxidosulfanyl)alanine (Cys-Cys)YIGSCTFEH
HCCCCCHHH
4.21HPRD
Link
112S-cysteinyl 3-(oxidosulfanyl)alanine (Cys-Cys)FEHFCDVLD
HHHHHHHHH
3.69HPRD
Link
125S-cysteinyl 3-(oxidosulfanyl)alanine (Cys-Cys)TGEPCPEPL
CCCCCCCHH
5.33HPRD
Link
136S-cysteinyl 3-(oxidosulfanyl)alanine (Cys-Cys)YGLPCHCPF
CCCCCCCCC
6.58HPRD
Link
138S-cysteinyl 3-(oxidosulfanyl)alanine (Cys-Cys)LPCHCPFKE
CCCCCCCCC
5.59HPRD
Link
183S-cysteinyl 3-(oxidosulfanyl)alanine (Cys-Cys)KRLGCIKIA
CEEEEEEEE
3.20HPRD
Link
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Protein-Protein Interactions
      Interacting Protein      
Interaction type
Source ID
      Resource      
      Pubmed ID      
Domain-Domain Interactions
HEXB_HUMANENSP00000349687STRING
HEXA_HUMANENSP00000349687STRING
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Disease Reference
Kegg disease
OMIM disease
272750GM2-gangliosidosis AB (GM2GAB)
Drug Reference
There are no disease associations of PTM sites.
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Related Literatures of Post-Translational Modification
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Basic Information | Overview of PTM Sites | Experimental PTM Sites | Protein-Protein Interactions | Drug and Disease Associations | Related Literatures