Identification |
HMDB Protein ID
| CDBP01565 |
Secondary Accession Numbers
| Not Available |
Name
| Ganglioside GM2 activator |
Description
| Not Available |
Synonyms
|
- Cerebroside sulfate activator protein
- GM2-AP
- Ganglioside GM2 activator isoform short
- SAP-3
- Shingolipid activator protein 3
|
Gene Name
| GM2A |
Protein Type
| Enzyme |
Biological Properties |
General Function
| Involved in sphingolipid activator protein activity |
Specific Function
| 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 |
GO Classification
|
Not Available
|
Cellular Location
|
- Lysosome
|
Pathways
|
Not Available
|
Gene Properties |
Chromosome Location
| Chromosome:5 |
Locus
| 5q33.1 |
SNPs
| GM2A |
Gene Sequence
|
>582 bp
ATGCAGTCCCTGATGCAGGCTCCCCTCCTGATCGCCCTGGGCTTGCTTCTCGCGACCCCT
GCGCAAGCCCACCTGAAAAAGCCATCCCAGCTCAGTAGCTTTTCCTGGGATAACTGTGAT
GAAGGGAAGGACCCTGCGGTGATCAGAAGCCTGACTCTGGAGCCTGACCCCATCGTCGTT
CCTGGAAATGTGACCCTCAGTGTCGTGGGCAGCACCAGTGTCCCCCTGAGTTCTCCTCTG
AAGGTGGATTTAGTTTTGGAGAAGGAGGTGGCTGGCCTCTGGATCAAGATCCCATGCACA
GACTACATTGGCAGCTGTACCTTTGAACACTTCTGTGATGTGCTTGACATGTTAATTCCT
ACTGGGGAGCCCTGCCCAGAGCCCCTGCGTACCTATGGGCTTCCTTGCCACTGTCCCTTC
AAAGAAGGAACCTACTCACTGCCCAAGAGCGAATTCGTTGTGCCTGACCTGGAGCTGCCC
AGTTGGCTCACCACCGGGAACTACCGCATAGAGAGCGTCCTGAGCAGCAGTGGGAAGCGT
CTGGGCTGCATCAAGATCGCTGCCTCTCTAAAGGGCATATAG
|
Protein Properties |
Number of Residues
| 193 |
Molecular Weight
| 20838.1 |
Theoretical pI
| 4.96 |
Pfam Domain Function
|
Not Available |
Signals
|
|
Transmembrane Regions
|
|
Protein Sequence
|
>Ganglioside GM2 activator
MQSLMQAPLLIALGLLLAAPAQAHLKKPSQLSSFSWDNCDEGKDPAVIRSLTLEPDPIIV
PGNVTLSVMGSTSVPLSSPLKVDLVLEKEVAGLWIKIPCTDYIGSCTFEHFCDVLDMLIP
TGEPCPEPLRTYGLPCHCPFKEGTYSLPKSEFVVPDLELPSWLTTGNYRIESVLSSSGKR
LGCIKIAASLKGI
|
External Links |
GenBank ID Protein
| 4587479 |
UniProtKB/Swiss-Prot ID
| P17900 |
UniProtKB/Swiss-Prot Entry Name
| SAP3_HUMAN |
PDB IDs
|
|
GenBank Gene ID
| AF124719 |
GeneCard ID
| GM2A |
GenAtlas ID
| GM2A |
HGNC ID
| HGNC:4367 |
References |
General References
| Not Available |