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    GM2A GM2 ganglioside activator [ Homo sapiens (human) ]

    Gene ID: 2760, updated on 4-Feb-2018
    Official Symbol
    GM2Aprovided by HGNC
    Official Full Name
    GM2 ganglioside activatorprovided by HGNC
    Primary source
    HGNC:HGNC:4367
    See related
    Ensembl:ENSG00000196743 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]
    Expression
    Ubiquitous expression in skin (RPKM 39.8), placenta (RPKM 38.5) and 24 other tissues See more
    Orthologs
    Location:
    5q33.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    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

    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    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 cortex IEA
    Inferred from Electronic Annotation
    more info
     
    azurophil granule lumen TAS
    Traceable Author Statement
    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
     
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    potassium:proton exchanging ATPase complex IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    ganglioside GM2 activator
    Names
    cerebroside sulfate activator protein
    shingolipid activator protein 3
    sphingolipid activator protein 3

    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, OTTHUMP00000160619, ENST00000357164.3, OTTHUMT00000252432
      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 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      150065374..150082713
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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