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    Sord sorbitol dehydrogenase [ Mus musculus (house mouse) ]

    Gene ID: 20322, updated on 11-Nov-2024

    Summary

    Official Symbol
    Sordprovided by MGI
    Official Full Name
    sorbitol dehydrogenaseprovided by MGI
    Primary source
    MGI:MGI:98266
    See related
    Ensembl:ENSMUSG00000027227 AllianceGenome:MGI:98266
    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
    SDH; XDH; Sdh1; Sdh-1; Sodh-1
    Summary
    Enables D-sorbitol dehydrogenase (acceptor) activity; D-xylulose reductase activity; and L-iditol 2-dehydrogenase (NAD+) activity. Involved in D-glucuronate catabolic process to D-xylulose 5-phosphate; flagellated sperm motility; and fructose biosynthetic process. Acts upstream of or within sorbitol metabolic process. Located in mitochondrion and motile cilium. Is active in cytosol. Is expressed in several structures, including alimentary system; early embryo; limb; metanephros; and nervous system. Used to study cataract. Human ortholog(s) of this gene implicated in autosomal recessive distal hereditary motor neuronopathy 8. Orthologous to human SORD (sorbitol dehydrogenase). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis adult (RPKM 335.8), kidney adult (RPKM 231.0) and 9 other tissues See more
    Orthologs
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    Genomic context

    See Sord in Genome Data Viewer
    Location:
    2 E5; 2 60.59 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (122065320..122095818)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (122234839..122265337)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene predicted gene 14058 Neighboring gene ribosomal protein S12, pseudogene 10 Neighboring gene STARR-seq mESC enhancer starr_05551 Neighboring gene dual oxidase 2 Neighboring gene dual oxidase maturation factor 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data 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)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC31355

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables D-sorbitol dehydrogenase (acceptor) activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables D-sorbitol dehydrogenase (acceptor) activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables D-xylulose reductase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables D-xylulose reductase activity ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    enables L-iditol 2-dehydrogenase (NAD+) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables L-iditol 2-dehydrogenase (NAD+) activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables L-iditol 2-dehydrogenase (NAD+) activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables L-iditol 2-dehydrogenase (NAD+) activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables NAD binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables NAD binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables zinc ion binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in D-glucuronate catabolic process to D-xylulose 5-phosphate IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in flagellated sperm motility IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in fructose biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in fructose biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in fructose biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to cadmium ion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to copper ion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to hormone ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in sorbitol catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sorbitol catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sorbitol catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within sorbitol metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in xylitol catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in xylitol catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in xylitol metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    is_active_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular exosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrial membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in motile cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    sorbitol dehydrogenase
    Names
    L-iditol 2-dehydrogenase
    polyol dehydrogenase
    sorbitol dehydrogenase 1
    xylitol dehydrogenase
    NP_666238.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_146126.4NP_666238.1  sorbitol dehydrogenase

      See identical proteins and their annotated locations for NP_666238.1

      Status: PROVISIONAL

      Source sequence(s)
      AL844566, AL844573
      Consensus CDS
      CCDS16657.1
      UniProtKB/Swiss-Prot
      Q569V5, Q64442, Q9CPS0
      Related
      ENSMUSP00000106180.4, ENSMUST00000110551.4
      Conserved Domains (1) summary
      cd05285
      Location:11350
      sorbitol_DH; Sorbitol dehydrogenase

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      122065320..122095818
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)