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GM2A GM2 ganglioside activator [ Homo sapiens (human) ]

Gene ID: 2760, updated on 8-Dec-2018

Summary

Official Symbol
GM2Aprovided by HGNC
Official Full Name
GM2 ganglioside activatorprovided by HGNC
Primary source
HGNC:HGNC:4367
See related
Ensembl:ENSG00000196743 MIM:613109
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]
Expression
Ubiquitous expression in skin (RPKM 39.8), placenta (RPKM 38.5) and 24 other tissues See more
Orthologs

Genomic context

See GM2A in Genome Data Viewer
Location:
5q33.1
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (151253052..151270394)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (150632613..150650083)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986463 Neighboring gene coiled-coil domain containing 69 Neighboring gene synapsin-1-like Neighboring gene solute carrier family 36 member 3 Neighboring gene ATPase H+ transporting V1 subunit G1 pseudogene 5 Neighboring gene solute carrier family 36 member 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Tay-Sachs disease, variant AB
MedGen: C0268275 OMIM: 272750 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genetic variants associated with disordered eating.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of GM2 ganglioside activator (GM2A) by siRNA enhances HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Glycosphingolipid metabolism, organism-specific biosystem (from REACTOME)
    Glycosphingolipid metabolism, organism-specific biosystemThe steps involved in the synthesis of glycosphingolipids (sphingolipids with one or more sugars attached) are annotated here (Gault et al. 2010).
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Lysosome, organism-specific biosystem (from KEGG)
    Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Lysosome, conserved biosystem (from KEGG)
    Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
  • Sphingolipid metabolism, organism-specific biosystem (from REACTOME)
    Sphingolipid metabolism, organism-specific biosystemSphingolipids are derivatives of long chain sphingoid bases such as sphingosine (trans-1,3-dihydroxy 2-amino-4-octadecene), an 18-carbon unsaturated amino alcohol which is the most abundant sphingoid...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
beta-N-acetylgalactosaminidase activity IEA
Inferred from Electronic Annotation
more info
 
lipid transporter activity IEA
Inferred from Electronic Annotation
more info
 
phospholipase activator activity IEA
Inferred from Electronic Annotation
more info
 
sphingolipid activator protein activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
ganglioside catabolic process IEA
Inferred from Electronic Annotation
more info
 
glycosphingolipid metabolic process TAS
Traceable Author Statement
more info
 
learning or memory IEA
Inferred from Electronic Annotation
more info
 
lipid storage IEA
Inferred from Electronic Annotation
more info
 
lipid transport IEA
Inferred from Electronic Annotation
more info
 
neuromuscular process controlling balance IEA
Inferred from Electronic Annotation
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
oligosaccharide catabolic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
azurophil granule lumen TAS
Traceable Author Statement
more info
 
basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
lysosomal lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ganglioside GM2 activator
Names
cerebroside sulfate activator protein
shingolipid activator protein 3
sphingolipid activator protein 3

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

  1. NG_009059.1 RefSeqGene

    Range
    5001..22343
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_000396.2

    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
    ENSP00000349687.3, ENST00000357164.3
    Conserved Domains (1) summary
    cd00258
    Location:32193
    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. ...
  2. NM_001167607.1NP_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:32140
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    151253052..151270394
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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