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    Ganab alpha glucosidase 2 alpha neutral subunit [ Mus musculus (house mouse) ]

    Gene ID: 14376, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Ganabprovided by MGI
    Official Full Name
    alpha glucosidase 2 alpha neutral subunitprovided by MGI
    Primary source
    MGI:MGI:1097667
    See related
    Ensembl:ENSMUSG00000071650 AllianceGenome:MGI:1097667
    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
    G2an; GluII; mKIAA0088
    Summary
    Enables glucan 1,3-alpha-glucosidase activity. Involved in N-glycan processing. Part of glucosidase II complex. Is expressed in several structures, including alimentary system; genitourinary system; heart; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in polycystic kidney disease; polycystic kidney disease 3; and polycystic liver disease. Orthologous to human GANAB (glucosidase II alpha subunit). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in limb E14.5 (RPKM 61.9), placenta adult (RPKM 49.8) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Ganab in Genome Data Viewer
    Location:
    19 A; 19 5.96 cM
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (8875440..8894098)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (8898057..8916742)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 1810009A15 gene Neighboring gene STARR-positive B cell enhancer ABC_E11017 Neighboring gene LBH domain containing 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr19:8967434-8967543 Neighboring gene STARR-positive B cell enhancer ABC_E4265 Neighboring gene integrator complex subunit 5 Neighboring gene STARR-seq mESC enhancer starr_45501 Neighboring gene predicted gene, 36629 Neighboring gene beta-1,3-glucuronyltransferase 3 Neighboring gene echinoderm microtubule associated protein like 3 Neighboring gene rod outer segment membrane protein 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Ganab Haploinsufficiency Does Not Cause Polycystic Kidney Disease or Polycystic Liver Disease in Mice. Geng G, et al. Biomed Res Int, 2020. PMID 32550232, Free PMC Article
    2. Alternative splicing of transcripts encoding the alpha- and beta-subunits of mouse glucosidase II in T lymphocytes. Arendt CW, et al. Glycobiology, 1999 Mar. PMID 10024665
    3. Temporal neuropathologic and behavioral phenotype of 6neo/6neo Pompe disease mice. Sidman RL, et al. J Neuropathol Exp Neurol, 2008 Aug. PMID 18648322, Free PMC Article
    4. Specific isoforms of the resident endoplasmic reticulum protein glucosidase II associate with the CD45 protein-tyrosine phosphatase via a lectin-like interaction. Baldwin TA, et al. J Biol Chem, 2000 Oct 13. PMID 10921916
    5. Structures of mammalian ER α-glucosidase II capture the binding modes of broad-spectrum iminosugar antivirals. Caputo AT, et al. Proc Natl Acad Sci U S A, 2016 Aug 9. PMID 27462106, Free PMC Article

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Ganab Haploinsufficiency Does Not Cause Polycystic Kidney Disease or Polycystic Liver Disease in Mice.
      Title: Ganab Haploinsufficiency Does Not Cause Polycystic Kidney Disease or Polycystic Liver Disease in Mice.
    2. progression of neuropathologic and Behavioral abnormalities in a Pompe disease mouse model (6neo/6neo) that displays many features of the human disease
      Title: Temporal neuropathologic and behavioral phenotype of 6neo/6neo Pompe disease mice.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC144011, MGC144012

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables Glc2Man9GlcNAc2 oligosaccharide glucosidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables alpha-glucosidase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables glucan 1,3-alpha-glucosidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables glucan 1,3-alpha-glucosidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables glucan 1,3-alpha-glucosidase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables glucan 1,3-alpha-glucosidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables glucosidase activity ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in N-glycan processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in N-glycan processing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in N-glycan processing ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in N-glycan processing ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within N-glycan processing TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in carbohydrate metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum TAS
    Traceable Author Statement
    more info
    		 PubMed 
    part_of glucosidase II complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of glucosidase II complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of glucosidase II complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of glucosidase II complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in melanosome IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    neutral alpha-glucosidase AB
    Names
    alpha-glucosidase 2
    carbohydrate processing enzyme of the endoplasmic reticulum
    glucosidase II alpha-subunit
    glucosidase II subunit alpha
    NP_001280550.1
    NP_001397240.1
    NP_032086.1
    XP_006526740.1

    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_001293621.2 → NP_001280550.1  neutral alpha-glucosidase AB isoform 2 precursor

      See identical proteins and their annotated locations for NP_001280550.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the coding region, compared to variant 1. The encoded protein (isoform 2) is shorter, compared to isoform 1.
      Source sequence(s)
      AC129217
      Consensus CDS
      CCDS89335.1
      UniProtKB/Swiss-Prot
      O08794, Q149A6, Q80U81, Q8BHN3, Q9CS53
      Related
      ENSMUSP00000158122.2, ENSMUST00000235274.2
      Conserved Domains (3) summary
      cd06603
      Location:384 → 851
      GH31_GANC_GANAB_alpha; neutral alpha-glucosidase C, neutral alpha-glucosidase AB
      cd14752
      Location:242 → 384
      GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
      pfam01055
      Location:365 → 810
      Glyco_hydro_31; Glycosyl hydrolases family 31

    2. NM_001410311.1 → NP_001397240.1  neutral alpha-glucosidase AB isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC129217

    3. NM_008060.3 → NP_032086.1  neutral alpha-glucosidase AB isoform 1 precursor

      See identical proteins and their annotated locations for NP_032086.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC129217
      Consensus CDS
      CCDS29557.1
      UniProtKB/TrEMBL
      A1A4T2
      Related
      ENSMUSP00000093965.4, ENSMUST00000096246.5
      Conserved Domains (3) summary
      cd06603
      Location:406 → 873
      GH31_GANC_GANAB_alpha; neutral alpha-glucosidase C, neutral alpha-glucosidase AB
      cd14752
      Location:264 → 406
      GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
      pfam01055
      Location:387 → 832
      Glyco_hydro_31; Glycosyl hydrolases family 31

    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_000085.7 Reference GRCm39 C57BL/6J

      Range
      8875440..8894098
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006526677.2 → XP_006526740.1  neutral alpha-glucosidase AB isoform X1

      Conserved Domains (2) summary
      cd06603
      Location:309 → 776
      GH31_GANC_GANAB_alpha; neutral alpha-glucosidase C, neutral alpha-glucosidase AB
      cd14752
      Location:167 → 309
      GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BHN3.1 GenPept UniProtKB/Swiss-Prot:Q8BHN3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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