Ganglioside GM2 activator
Details
- Name
- Ganglioside GM2 activator
- Synonyms
- Cerebroside sulfate activator protein
- GM2-AP
- SAP-3
- Sphingolipid activator protein 3
- Gene Name
- GM2A
- Organism
- Humans
- Amino acid sequence
>lcl|BSEQ0037141|Ganglioside GM2 activator MQSLMQAPLLIALGLLLAAPAQAHLKKPSQLSSFSWDNCDEGKDPAVIRSLTLEPDPIIV PGNVTLSVMGSTSVPLSSPLKVDLVLEKEVAGLWIKIPCTDYIGSCTFEHFCDVLDMLIP TGEPCPEPLRTYGLPCHCPFKEGTYSLPKSEFVVPDLELPSWLTTGNYRIESVLSSSGKR LGCIKIAASLKGI
- Number of residues
- 193
- Molecular Weight
- 20838.1
- Theoretical pI
- 4.96
- GO Classification
- Functionsbeta-N-acetylgalactosaminidase activity / lipid transporter activity / phospholipase activator activityProcessesganglioside catabolic process / glycosphingolipid metabolic process / learning or memory / lipid storage / neuromuscular process controlling balance / oligosaccharide catabolic process / positive regulation of hydrolase activity / small molecule metabolic process / sphingolipid metabolic processComponentsapical cortex / cytoplasmic side of plasma membrane / extracellular exosome / hydrogen / lysosomal lumen / mitochondrion
- General Function
- Phospholipase activator activity
- Specific 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.
- Pfam Domain Function
- E1_DerP2_DerF2 (PF02221)
- Transmembrane Regions
- Not Available
- Cellular Location
- Lysosome
- Gene sequence
>lcl|BSEQ0021666|Ganglioside GM2 activator (GM2A) ATGCAGTCCCTGATGCAGGCTCCCCTCCTGATCGCCCTGGGCTTGCTTCTCGCGGCCCCT GCGCAAGCCCACCTGAAAAAGCCATCCCAGCTCAGTAGCTTTTCCTGGGATAACTGTGAT GAAGGGAAGGACCCTGCGGTGATCAGAAGCCTGACTCTGGAGCCTGACCCCATCATCGTT CCTGGAAATGTGACCCTCAGTGTCATGGGCAGCACCAGTGTCCCCCTGAGTTCTCCTCTG AAGGTGGATTTAGTTTTGGAGAAGGAGGTGGCTGGCCTCTGGATCAAGATCCCATGCACA GACTACATTGGCAGCTGTACCTTTGAACACTTCTGTGATGTGCTTGACATGTTAATTCCT ACTGGGGAGCCCTGCCCAGAGCCCCTGCGTACCTATGGGCTTCCTTGCCACTGTCCCTTC AAAGAAGGAACCTACTCACTGCCCAAGAGCGAATTCGTTGTGCCTGACCTGGAGCTGCCC AGTTGGCTCACCACCGGGAACTACCGCATAGAGAGCGTCCTGAGCAGCAGTGGGAAGCGT CTGGGCTGCATCAAGATCGCTGCCTCTCTAAAGGGCATATAA
- Chromosome Location
- 5
- Locus
- 5q31.3-q33.1
- External Identifiers
Resource Link UniProtKB ID P17900 UniProtKB Entry Name SAP3_HUMAN GenBank Protein ID 183357 GenBank Gene ID M76477 GenAtlas ID GM2A HGNC ID HGNC:4367 - General References
- Xie B, McInnes B, Neote K, Lamhonwah AM, Mahuran D: Isolation and expression of a full-length cDNA encoding the human GM2 activator protein. Biochem Biophys Res Commun. 1991 Jun 28;177(3):1217-23. [Article]
- Klima H, Tanaka A, Schnabel D, Nakano T, Schroder M, Suzuki K, Sandhoff K: Characterization of full-length cDNAs and the gene coding for the human GM2 activator protein. FEBS Lett. 1991 Sep 9;289(2):260-4. [Article]
- Nagarajan S, Chen HC, Li SC, Li YT, Lockyer JM: Evidence for two cDNA clones encoding human GM2-activator protein. Biochem J. 1992 Mar 15;282 ( Pt 3):807-13. [Article]
- Xie B, Kennedy JL, McInnes B, Auger D, Mahuran D: Identification of a processed pseudogene related to the functional gene encoding the GM2 activator protein: localization of the pseudogene to human chromosome 3 and the functional gene to human chromosome 5. Genomics. 1992 Nov;14(3):796-8. [Article]
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- Chen B, Rigat B, Curry C, Mahuran DJ: Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2. Am J Hum Genet. 1999 Jul;65(1):77-87. [Article]
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- Schroder M, Klima H, Nakano T, Kwon H, Quintern LE, Gartner S, Suzuki K, Sandhoff K: Isolation of a cDNA encoding the human GM2 activator protein. FEBS Lett. 1989 Jul 17;251(1-2):197-200. [Article]
- Furst W, Schubert J, Machleidt W, Meyer HE, Sandhoff K: The complete amino-acid sequences of human ganglioside GM2 activator protein and cerebroside sulfate activator protein. Eur J Biochem. 1990 Sep 24;192(3):709-14. [Article]
- Vaca Jacome AS, Rabilloud T, Schaeffer-Reiss C, Rompais M, Ayoub D, Lane L, Bairoch A, Van Dorsselaer A, Carapito C: N-terminome analysis of the human mitochondrial proteome. Proteomics. 2015 Jul;15(14):2519-24. doi: 10.1002/pmic.201400617. Epub 2015 Jun 8. [Article]
- Wright CS, Li SC, Rastinejad F: Crystal structure of human GM2-activator protein with a novel beta-cup topology. J Mol Biol. 2000 Dec 1;304(3):411-22. [Article]
- Schroder M, Schnabel D, Suzuki K, Sandhoff K: A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB. FEBS Lett. 1991 Sep 23;290(1-2):1-3. [Article]
- Schroder M, Schnabel D, Hurwitz R, Young E, Suzuki K, Sandhoff K: Molecular genetics of GM2-gangliosidosis AB variant: a novel mutation and expression in BHK cells. Hum Genet. 1993 Nov;92(5):437-40. [Article]
- Schepers U, Glombitza G, Lemm T, Hoffmann A, Chabas A, Ozand P, Sandhoff K: Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant. Am J Hum Genet. 1996 Nov;59(5):1048-56. [Article]
Drug Relations
- Drug Relations
DrugBank ID Name Drug group Pharmacological action? Actions Details DB02261 Platelet Activating Factor experimental unknown Details DB03017 Lauric acid approved, experimental unknown Details DB03633 Lpc-Ether experimental unknown Details DB04660 Choline alfoscerate experimental, investigational unknown Details DB08231 Myristic acid experimental unknown Details