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    Galm galactose mutarotase [ Mus musculus (house mouse) ]

    Gene ID: 319625, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Galmprovided by MGI
    Official Full Name
    galactose mutarotaseprovided by MGI
    Primary source
    MGI:MGI:2442420
    See related
    Ensembl:ENSMUSG00000035473 AllianceGenome:MGI:2442420
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    A530057M15Rik
    Summary
    Predicted to enable aldose 1-epimerase activity. Predicted to be involved in galactose catabolic process via UDP-galactose and glucose metabolic process. Predicted to act upstream of or within carbohydrate metabolic process. Predicted to be located in cytoplasm. Is expressed in several structures, including alimentary system; forebrain; heart; liver; and sensory organ. Human ortholog(s) of this gene implicated in galactosemia 4. Orthologous to human GALM (galactose mutarotase). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in kidney adult (RPKM 44.1), liver adult (RPKM 34.5) and 20 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Galm in Genome Data Viewer
    Location:
    17 E3; 17 50.46 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (80434886..80492461)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (80127458..80185032)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 41626 Neighboring gene STARR-seq mESC enhancer starr_43299 Neighboring gene predicted gene, 23125 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:80530153-80530306 Neighboring gene STARR-seq mESC enhancer starr_43303 Neighboring gene STARR-positive B cell enhancer ABC_E5630 Neighboring gene microRNA 12189 Neighboring gene STARR-positive B cell enhancer ABC_E3216 Neighboring gene serine and arginine-rich splicing factor 7

    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. Biallelic GALM pathogenic variants cause a novel type of galactosemia. Wada Y, et al. Genet Med, 2019 Jun. PMID 30451973
    2. Requirement for the Mitochondrial Pyruvate Carrier in Mammalian Development Revealed by a Hypomorphic Allelic Series. Bowman CE, et al. Mol Cell Biol, 2016 Aug 1. PMID 27215380, Free PMC Article
    3. Spatiotemporal Analysis of a Glycolytic Activity Gradient Linked to Mouse Embryo Mesoderm Development. Bulusu V, et al. Dev Cell, 2017 Feb 27. PMID 28245920, Free PMC Article
    4. GenePaint.org: an atlas of gene expression patterns in the mouse embryo. Visel A, et al. Nucleic Acids Res, 2004 Jan 1. PMID 14681479, Free PMC Article
    5. Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Ko MS, et al. Development, 2000 Apr. PMID 10725249

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

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

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables aldose 1-epimerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables aldose 1-epimerase activity ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    enables carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    NOT enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within carbohydrate metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in galactose catabolic process via UDP-galactose IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in galactose catabolic process via UDP-galactose ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    involved_in galactose metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in glucose metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in glucose metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glucose metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    galactose mutarotase
    Names
    aldose 1-epimerase
    NP_795937.1
    XP_006524453.1

    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_176963.4 → NP_795937.1  galactose mutarotase

      See identical proteins and their annotated locations for NP_795937.1

      Status: PROVISIONAL

      Source sequence(s)
      AC140361
      Consensus CDS
      CCDS28987.1
      UniProtKB/Swiss-Prot
      Q8K157
      UniProtKB/TrEMBL
      Q3TSZ4
      Related
      ENSMUSP00000040580.5, ENSMUST00000039205.11
      Conserved Domains (1) summary
      cd09019
      Location:21 → 339
      galactose_mutarotase_like; galactose mutarotase_like

    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_000083.7 Reference GRCm39 C57BL/6J

      Range
      80434886..80492461
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006524390.5 → XP_006524453.1  galactose mutarotase isoform X1

      Conserved Domains (1) summary
      cd09019
      Location:21 → 211
      galactose_mutarotase_like; galactose mutarotase_like
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8K157.1 GenPept UniProtKB/Swiss-Prot:Q8K157

    Gene LinkOut

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

    Chemical Information
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