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

Gene ID: 14667, updated on 23-Jun-2021

Summary

Official Symbol
Gm2aprovided by MGI
Official Full Name
GM2 ganglioside activator proteinprovided by MGI
Primary source
MGI:MGI:95762
See related
Ensembl:ENSMUSG00000000594
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; AA408702; AW215435
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
109 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)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 11 NC_000077.5 (54911619..54924400)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene annexin A6 Neighboring gene predicted gene, 19911 Neighboring gene coiled-coil domain containing 69 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)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
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 hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables lipid transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasmic side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in lysosome IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrion HDA 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
    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: Mus musculus Annotation Release 109 details...Open this link in a new tab

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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