GM2A GM2 ganglioside activator [Homo sapiens] - Gene

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Summary

Official Symbol: GM2Aprovided by HGNC
Official Full Name: GM2 ganglioside activatorprovided by HGNC
Primary source: HGNC:4367
See related: Ensembl:ENSG00000196743; HPRD:02034; MIM:613109; Vega:OTTHUMG00000130124
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SAP-3; GM2-AP
Summary: This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]

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Genomic context

Location :: 5q33.1

Sequence :: Chromosome: 5; NC_000005.9 (150632613..150649955)

See GM2A in Epigenomics, MapViewer

Chromosome 5 - NC_000005.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

impact of GM2AP on glucose metabolism
Title: Adipokine ganglioside GM2 activator protein stimulates insulin secretion.
Treatment of meniscal explants with IL-1RA inhibited the expression of many catabolic genes following a single bout of high dynamic strain.
Title: In vitro inhibition of compression-induced catabolic gene expression in meniscal explants following treatment with IL-1 receptor antagonist.
these results provide novel insights into the physiological functions of GM2AP in obesity.
Title: A novel adipokine GM2AP impairs insulin signaling.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Two new structures of GM2-AP with bound lipids, showing two different lipid-binding modes within the apolar pocket
Title: Structural analysis of lipid complexes of GM2-activator protein.
alpha-subunit loop structure is required for GM2 activator protein binding by beta-hexosaminidase A
Title: An alpha-subunit loop structure is required for GM2 activator protein binding by beta-hexosaminidase A.
glycosphingolipids, particularly GM2, form a complex with CD82, and this complex interacts with Met and thereby inhibits HGF-induced Met tyrosine kinase activity, as well as integrin to Met cross-talk
Title: Ganglioside GM2-tetraspanin CD82 complex inhibits met and its cross-talk with integrins, providing a basis for control of cell motility through glycosynapse.
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.
elucidation of mode of action on gangioside GM2
Title: Photoaffinity labelling of the human GM2-activator protein. Mechanistic insight into ganglioside GM2 degradation.

Submit: New GeneRIF Correction

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

GM2-gangliosidosis, AB variant

MIM: 272750

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Products	Interactant	Other Gene	Source	Pubs	Description
P17900	P80108	GPLD1	HPRD	PubMed
P17900	P06865	HEXA	HPRD	PubMed
P17900	O14939	PLD2	HPRD	PubMed
BioGRID:109022	BioGRID:109322	HEXA	BioGRID	PubMed	Co-purification
BioGRID:109022	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
beta-N-acetylhexosaminidase activity	IEA Inferred from Electronic Annotation more info
hydrolase activity	IEA Inferred from Electronic Annotation more info
sphingolipid activator protein activity	NAS Non-traceable Author Statement more info

Process	Evidence Code	Pubs
ganglioside catabolic process	IEA Inferred from Electronic Annotation more info
glycolipid catabolic process	NAS Non-traceable Author Statement more info
glycosphingolipid metabolic process	TAS Traceable Author Statement more info
learning or memory	IEA Inferred from Electronic Annotation more info
lipid metabolic process	IEA Inferred from Electronic Annotation more info
lipid storage	IEA Inferred from Electronic Annotation more info
neurological system process	IEA Inferred from Electronic Annotation more info
neuromuscular process controlling balance	IEA Inferred from Electronic Annotation more info
oligosaccharide catabolic process	IEA Inferred from Electronic Annotation more info
small molecule metabolic process	TAS Traceable Author Statement more info
sphingolipid catabolic process	NAS Non-traceable Author Statement more info
sphingolipid metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info	PubMed
lysosomal lumen	TAS Traceable Author Statement more info
lysosome	NAS Non-traceable Author Statement more info
mitochondrion	IEA Inferred from Electronic Annotation more info
nucleolus	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: ganglioside GM2 activator

Names: ganglioside GM2 activator; shingolipid activator protein 3; sphingolipid activator protein 3; cerebroside sulfate activator protein

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NCBI Reference Sequences (RefSeq)

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.

Genomic

NG_009059.1 RefSeqGene

Range

5001..22343

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000405.4 → NP_000396.2 ganglioside GM2 activator isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC008385, BM834780, X61095

Consensus CDS

CCDS4313.1

UniProtKB/Swiss-Prot

P17900

Related

ENSP00000349687, OTTHUMP00000160619, ENST00000357164, OTTHUMT00000252432

Conserved Domains (1) summary

cd00258
Location:32 – 193
Blast Score: 697

GM2-AP; GM2 activator protein (GM2-AP) is a non-enzymatic lysosomal protein that acts as cofactor in the sequential degradation of gangliosides. GM2A is an essential cofactor for beta-hexosaminidase A (Hex A) in the enzymatic hydrolysis of GM2 ganglioside to GM3. ...
NM_001167607.1 → NP_001161079.1 ganglioside GM2 activator isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.

Source sequence(s)

AC008385

Conserved Domains (1) summary

cl00274
Location:32 – 140
Blast Score: 478

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 ...

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000005.9 Reference GRCh37.p5 Primary Assembly

Range

150632613..150649955

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000137.1 Alternate HuRef

Range

145777975..145795318

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC008385.7 (88981..106323)	None
genomic	AF124717.1	AAD25741.1
genomic	AF173832.1	AAF63788.1
genomic	CH471062.2	EAW61680.1
		EAW61681.1
mRNA	AK298867.1	BAG60987.1
mRNA	AK312494.1	BAG35396.1
mRNA	BC009273.2	AAH09273.1
mRNA	BM834780.1	None
mRNA	BX473154.1	None
mRNA	L01439.1	AAA52767.1
mRNA	M76477.1	AAA35907.1
mRNA	X16087.1	CAA34215.1
mRNA	X61094.1	CAA43407.1
mRNA	X61095.1	CAA43408.1
mRNA	X62078.1	CAA43993.1
		CAA43994.1
other-genetic	DQ891914.2	ABM82840.1
other-genetic	DQ895098.2	ABM86024.1