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Q60648

- SAP3_MOUSE

UniProt

Q60648 - SAP3_MOUSE

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Protein

Ganglioside GM2 activator

Gene

Gm2a

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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. The large binding pocket can accommodate several single chain phospholipids and fatty acids, GM2A also exhibits some calcium-independent phospholipase activity.1 Publication

GO - Molecular functioni

  1. beta-N-acetylhexosaminidase activity Source: MGI
  2. enzyme activator activity Source: MGI
  3. lipid transporter activity Source: Ensembl
  4. phospholipase activator activity Source: Ensembl

GO - Biological processi

  1. ganglioside catabolic process Source: MGI
  2. learning or memory Source: MGI
  3. lipid storage Source: MGI
  4. neurological system process Source: MGI
  5. neuromuscular process controlling balance Source: MGI
  6. oligosaccharide catabolic process Source: MGI
  7. positive regulation of hydrolase activity Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Lipid metabolism, Sphingolipid metabolism

Enzyme and pathway databases

ReactomeiREACT_199008. Glycosphingolipid metabolism.

Names & Taxonomyi

Protein namesi
Recommended name:
Ganglioside GM2 activator
Alternative name(s):
Cerebroside sulfate activator protein
GM2-AP
Sphingolipid activator protein 3
Short name:
SAP-3
Gene namesi
Name:Gm2a
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589: Chromosome 11

Organism-specific databases

MGIiMGI:95762. Gm2a.

Subcellular locationi

GO - Cellular componenti

  1. apical cortex Source: Ensembl
  2. cytoplasmic side of plasma membrane Source: Ensembl
  3. extracellular vesicular exosome Source: Ensembl
  4. lysosome Source: UniProtKB-KW
  5. mitochondrion Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Lysosome

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi168 – 1681Y → S: Abolishes phospholipid binding. 1 Publication

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2020Sequence AnalysisAdd
BLAST
Chaini21 – 193173Ganglioside GM2 activatorPRO_0000031643Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi39 ↔ 1831 Publication
Disulfide bondi99 ↔ 1061 Publication
Disulfide bondi112 ↔ 1381 Publication
Disulfide bondi125 ↔ 1361 Publication
Glycosylationi151 – 1511N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiQ60648.
PaxDbiQ60648.
PRIDEiQ60648.

Expressioni

Tissue specificityi

Widely expressed. Most abundant in kidney and testis.

Gene expression databases

BgeeiQ60648.
CleanExiMM_GM2A.
ExpressionAtlasiQ60648. baseline and differential.
GenevestigatoriQ60648.

Interactioni

Protein-protein interaction databases

IntActiQ60648. 2 interactions.
MINTiMINT-4133787.

Structurei

Secondary structure

1
193
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi35 – 395
Helixi40 – 423
Beta strandi44 – 5815
Beta strandi60 – 7415
Beta strandi81 – 9010
Beta strandi93 – 964
Beta strandi107 – 1093
Helixi111 – 1188
Turni127 – 1337
Beta strandi142 – 15312
Beta strandi165 – 17612
Beta strandi179 – 19012

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2AGCX-ray2.50A32-193[»]
ProteinModelPortaliQ60648.
SMRiQ60648. Positions 32-193.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ60648.

Family & Domainsi

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG47814.
GeneTreeiENSGT00390000003288.
HOGENOMiHOG000031350.
HOVERGENiHBG000260.
InParanoidiQ60648.
KOiK12383.
OMAiFSWENCD.
OrthoDBiEOG7PCJHC.
PhylomeDBiQ60648.
TreeFamiTF353575.

Family and domain databases

InterProiIPR028996. GM2-AP.
IPR003172. ML_dom.
[Graphical view]
PANTHERiPTHR17357. PTHR17357. 1 hit.
PfamiPF02221. E1_DerP2_DerF2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q60648-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MHRLPLLLLL GLLLAGSVAP ARLVPKRLSQ LGGFSWDNCD EGKDPAVIKS
60 70 80 90 100
LTIQPDPIVV PGDVVVSLEG KTSVPLTAPQ KVELTVEKEV AGFWVKIPCV
110 120 130 140 150
EQLGSCSYEN ICDLIDEYIP PGESCPEPLH TYGLPCHCPF KEGTYSLPTS
160 170 180 190
NFTVPDLELP SWLSTGNYRI QSILSSGGKR LGCIKIAASL KGR
Length:193
Mass (Da):20,824
Last modified:November 1, 1997 - v2
Checksum:i59CC4ABE56FA1FC7
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti53 – 531I → T in AAA21543. (PubMed:7713516)Curated

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U09816 mRNA. Translation: AAA21543.1.
L19526 mRNA. Translation: AAA61929.1.
U34359
, U34356, U34357, U34358 Genomic DNA. Translation: AAB06275.1. Sequence problems.
BC004651 mRNA. Translation: AAH04651.1.
CCDSiCCDS24707.1.
PIRiS35613.
RefSeqiNP_034429.1. NM_010299.3.
UniGeneiMm.287807.

Genome annotation databases

EnsembliENSMUST00000000608; ENSMUSP00000000608; ENSMUSG00000000594.
GeneIDi14667.
KEGGimmu:14667.
UCSCiuc007iyw.2. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U09816 mRNA. Translation: AAA21543.1 .
L19526 mRNA. Translation: AAA61929.1 .
U34359
, U34356 , U34357 , U34358 Genomic DNA. Translation: AAB06275.1 . Sequence problems.
BC004651 mRNA. Translation: AAH04651.1 .
CCDSi CCDS24707.1.
PIRi S35613.
RefSeqi NP_034429.1. NM_010299.3.
UniGenei Mm.287807.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2AGC X-ray 2.50 A 32-193 [» ]
ProteinModelPortali Q60648.
SMRi Q60648. Positions 32-193.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

IntActi Q60648. 2 interactions.
MINTi MINT-4133787.

Proteomic databases

MaxQBi Q60648.
PaxDbi Q60648.
PRIDEi Q60648.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENSMUST00000000608 ; ENSMUSP00000000608 ; ENSMUSG00000000594 .
GeneIDi 14667.
KEGGi mmu:14667.
UCSCi uc007iyw.2. mouse.

Organism-specific databases

CTDi 2760.
MGIi MGI:95762. Gm2a.

Phylogenomic databases

eggNOGi NOG47814.
GeneTreei ENSGT00390000003288.
HOGENOMi HOG000031350.
HOVERGENi HBG000260.
InParanoidi Q60648.
KOi K12383.
OMAi FSWENCD.
OrthoDBi EOG7PCJHC.
PhylomeDBi Q60648.
TreeFami TF353575.

Enzyme and pathway databases

Reactomei REACT_199008. Glycosphingolipid metabolism.

Miscellaneous databases

EvolutionaryTracei Q60648.
NextBioi 286546.
PROi Q60648.
SOURCEi Search...

Gene expression databases

Bgeei Q60648.
CleanExi MM_GM2A.
ExpressionAtlasi Q60648. baseline and differential.
Genevestigatori Q60648.

Family and domain databases

InterProi IPR028996. GM2-AP.
IPR003172. ML_dom.
[Graphical view ]
PANTHERi PTHR17357. PTHR17357. 1 hit.
Pfami PF02221. E1_DerP2_DerF2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The mouse gene encoding the GM2 activator protein (Gm2a): cDNA sequence, expression, and chromosome mapping."
    Yamanaka S., Johnson O.N., Lyu M.S., Kozak C.A., Proia R.L.
    Genomics 24:601-604(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE.
    Strain: C57BL/6 X CBA.
    Tissue: Liver.
  2. "Cloning and sequence analysis of a cDNA clone coding for the mouse GM2 activator protein."
    Bellachioma G., Stirling J.L., Orlacchio A., Beccari T.
    Biochem. J. 294:227-230(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. "Structural organization and expression of the gene for the mouse GM2 activator protein."
    Bertoni C., Appolloni M.G., Stirling J.L., Li S.C., Li Y.T., Orlacchio A., Beccari T.
    Mamm. Genome 8:90-93(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    Strain: C57BL/6 X CBA.
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Strain: C57BL/6J.
    Tissue: Mammary gland.
  5. "Crystal structure analysis of phosphatidylcholine-GM2-activator product complexes: evidence for hydrolase activity."
    Wright C.S., Mi L.Z., Lee S., Rastinejad F.
    Biochemistry 44:13510-13521(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.5 ANGSTROMS) OF 32-193 IN COMPLEX WITH LYSOPHOSPHATIDYLCHOLINE, FUNCTION, DISULFIDE BONDS, MUTAGENESIS OF TYR-168.

Entry informationi

Entry nameiSAP3_MOUSE
AccessioniPrimary (citable) accession number: Q60648
Secondary accession number(s): Q61610, Q61819
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: October 29, 2014
This is version 109 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

External Data

Dasty 3