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    Sis sucrase isomaltase [ Mus musculus (house mouse) ]

    Gene ID: 69983, updated on 30-Apr-2024

    Summary

    Official Symbol
    Sisprovided by MGI
    Official Full Name
    sucrase isomaltaseprovided by MGI
    Primary source
    MGI:MGI:1917233
    See related
    Ensembl:ENSMUSG00000027790 AllianceGenome:MGI:1917233
    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
    SI; Si-s; 2010204N08Rik
    Summary
    Predicted to enable alpha-1,4-glucosidase activity; beta-fructofuranosidase activity; and oligo-1,6-glucosidase activity. Located in membrane. Is expressed in intestine. Human ortholog(s) of this gene implicated in congenital sucrase-isomaltase deficiency. Orthologous to human SI (sucrase-isomaltase). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in large intestine adult (RPKM 52.6), small intestine adult (RPKM 9.9) and 1 other tissue See more
    Orthologs
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    Genomic context

    See Sis in Genome Data Viewer
    Location:
    3 E3; 3 32.59 cM
    Exon count:
    48
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (72795890..72875196, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (72888557..72967863, complement)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene histocompatibility 2, M region locus 11 pseudogene Neighboring gene STARR-seq mESC enhancer starr_07947 Neighboring gene STARR-seq mESC enhancer starr_07948 Neighboring gene STARR-seq mESC enhancer starr_07949 Neighboring gene predicted gene, 22451 Neighboring gene STARR-seq mESC enhancer starr_07951 Neighboring gene STARR-seq mESC enhancer starr_07952 Neighboring gene STARR-seq mESC enhancer starr_07953 Neighboring gene SLIT and NTRK-like family, member 3 Neighboring gene predicted gene, 20754 Neighboring gene STARR-seq mESC enhancer starr_07954 Neighboring gene STARR-seq mESC enhancer starr_07955 Neighboring gene STARR-seq mESC enhancer starr_07956 Neighboring gene RIKEN cDNA 4930509J09 gene Neighboring gene STARR-seq mESC enhancer starr_07957 Neighboring gene STARR-seq mESC enhancer starr_07958

    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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables alpha-1,4-glucosidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables beta-fructofuranosidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables oligo-1,6-glucosidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in sucrose catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in brush border ISO
    Inferred from Sequence Orthology
    more info
     
    located_in brush border TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    sucrase-isomaltase, intestinal
    Names
    alpha-glucosidase
    sucrase isomaltase, structural
    NP_001074606.1

    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_001081137.2NP_001074606.1  sucrase-isomaltase, intestinal

      See identical proteins and their annotated locations for NP_001074606.1

      Status: VALIDATED

      Source sequence(s)
      AC102399, AC164406
      Consensus CDS
      CCDS38454.1
      UniProtKB/TrEMBL
      B5THE3, F8VQM5
      Related
      ENSMUSP00000129116.2, ENSMUST00000167334.8
      Conserved Domains (6) summary
      smart00018
      Location:925971
      PD; P or trefoil or TFF domain
      cd06602
      Location:333697
      GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
      cd14752
      Location:217333
      GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
      pfam00088
      Location:6098
      Trefoil; Trefoil (P-type) domain
      pfam01055
      Location:314787
      Glyco_hydro_31; Glycosyl hydrolases family 31
      pfam16863
      Location:115224
      NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase

    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_000069.7 Reference GRCm39 C57BL/6J

      Range
      72795890..72875196 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)