Gm2a GM2 ganglioside activator protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gm2aprovided by MGI
Official Full Name: GM2 ganglioside activator proteinprovided by MGI
Primary source: MGI:MGI:95762
See related: Ensembl:ENSMUSG00000000594 AllianceGenome:MGI:95762
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: SAP-3; GM2-AP
Summary: Enables beta-N-acetylhexosaminidase activity and enzyme activator activity. Acts upstream of or within several processes, including ganglioside catabolic process; lipid storage; and neuromuscular process controlling balance. Located in mitochondrion. Is expressed in several structures, including back skin; central nervous system; genitourinary system; hemolymphoid system; and retina. Used to study GM2 gangliosidosis, AB variant. Human ortholog(s) of this gene implicated in GM2 gangliosidosis and GM2 gangliosidosis, AB variant. Orthologous to human GM2A (ganglioside GM2 activator). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in ovary adult (RPKM 151.5), kidney adult (RPKM 88.9) and 20 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 B1.3; 11 32.13 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (54988811..55003855)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (55097985..55113029)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The most interesting finding was the association of the GM2-AP with the acrosomal apparatus in early spermatids. A modest to intense staining was observed in some acrosomal granules and acrosomal caps. The GM2-AP seemed to disappear from acrosomal caps in the later stage of spermatids, in which the nucleus became elongated and condensed.
Title: Expression of the GM2 activator protein in mouse testis.
impact of GM2AP on glucose metabolism
Title: Adipokine ganglioside GM2 activator protein stimulates insulin secretion.
these results provide novel insights into the physiological functions of GM2AP in obesity.
Title: A novel adipokine GM2AP impairs insulin signaling.
GM2 activator protein exerts strong and broad inhibitory effects on the hydrolysis of phospholipids carried out by plant and microbial phospholipases D
Title: Effect of GM2 activator protein on the enzymatic hydrolysis of phospholipids and sphingomyelin.
The trafficking of prosaposin and GM2 activator protein to the lysosome in sertoli cells is dependent on sortilin.
Title: The trafficking of prosaposin (SGP-1) and GM2AP to the lysosomes of TM4 Sertoli cells is mediated by sortilin and monomeric adaptor proteins.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH124746 (e-PCR)
- UniSTS:161568

Gm2a (e-PCR), detects polymorphism
- UniSTS:508008

AI464234 (e-PCR)
- UniSTS:165752

Gm2a (e-PCR), detects polymorphism
- UniSTS:502661

NoName (e-PCR)
- UniSTS:224989

AW215435 (e-PCR)
- UniSTS:180204

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
contributes_to beta-N-acetylgalactosaminidase activity	ISO Inferred from Sequence Orthology more info
enables beta-N-acetylhexosaminidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables enzyme activator activity	IDA Inferred from Direct Assay more info	PubMed
enables lipid transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables lipid transporter activity	ISO Inferred from Sequence Orthology more info
enables phospholipase activator activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in ganglioside catabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within ganglioside catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ganglioside metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within learning or memory	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lipid storage	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in lipid transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within maintenance of location in cell	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within nervous system process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuromuscular process controlling balance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within oligosaccharide catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in basolateral plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasmic side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic side of plasma membrane	ISO Inferred from Sequence Orthology more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in lysosome	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HDA more info	PubMed

General protein information

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Preferred Names: ganglioside GM2 activator

Names: cerebroside sulfate activator protein; shingolipid activator protein 3; sphingolipid activator protein 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_010299.3 → NP_034429.1 ganglioside GM2 activator precursor

See identical proteins and their annotated locations for NP_034429.1

Status: VALIDATED

Source sequence(s)

AL772357, BB856051, BC004651

Consensus CDS

CCDS24707.1

UniProtKB/Swiss-Prot

Q60648, Q61610, Q61819

UniProtKB/TrEMBL

Q5F1Z8

Related

ENSMUSP00000000608.8, ENSMUST00000000608.8

Conserved Domains (1) summary

cl00274
Location:33 → 192

ML; The ML (MD-2-related lipid-recognition) domain is present in MD-1, MD-2, GM2 activator protein, Niemann-Pick type C2 (Npc2) protein, phosphatidylinositol/phosphatidylglycerol transfer protein (PG/PI-TP), mite allergen Der p 2 and several proteins of ...