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

    Gene ID: 14667, updated on 9-Dec-2024

    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, Dec 2024]
    Expression
    Broad expression in ovary adult (RPKM 151.5), kidney adult (RPKM 88.9) and 20 other tissues See more
    Orthologs
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    Genomic context

    See Gm2a in Genome Data Viewer
    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_000077.7Genomic Context describing neighboring genes Neighboring gene annexin A6 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:54836566-54836859 Neighboring gene predicted gene, 19911 Neighboring gene coiled-coil domain containing 69 Neighboring gene STARR-seq mESC enhancer starr_29527 Neighboring gene STARR-positive B cell enhancer ABC_E161 Neighboring gene STARR-positive B cell enhancer ABC_E8406 Neighboring gene ATP synthase peripheral stalk-membrane subunit b, pseudogene Neighboring gene major urinary protein, pseudogene 22

    Genomic regions, transcripts, and products

    Expression

    • 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

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 
    • Targeted (1)  1 citation

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by MGI

    Component Evidence Code Pubs
    located_in apical plasma membrane  
    located_in basolateral plasma membrane  
    is_active_in cytoplasmic side of plasma membrane  
    located_in cytoplasmic side of plasma membrane  
    located_in cytosol  
    located_in cytosol  
    located_in intracellular membrane-bounded organelle  
    located_in lysosome  
    located_in membrane  
    located_in mitochondrion PubMed 

    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)

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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)

    1. NM_010299.3NP_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:33192
      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: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      54988811..55003855
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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