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    Spr sepiapterin reductase [ Mus musculus (house mouse) ]

    Gene ID: 20751, updated on 9-Dec-2024

    Summary

    Official Symbol
    Sprprovided by MGI
    Official Full Name
    sepiapterin reductaseprovided by MGI
    Primary source
    MGI:MGI:103078
    See related
    Ensembl:ENSMUSG00000033735 AllianceGenome:MGI:103078
    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
    Gm10328
    Summary
    Enables protein homodimerization activity. Acts upstream of or within several processes, including L-phenylalanine metabolic process; catecholamine metabolic process; and voluntary musculoskeletal movement. Located in mitochondrion. Is expressed in several structures, including alimentary system; heart; nervous system; sensory organ; and skeleton. Used to study Parkinson's disease. Human ortholog(s) of this gene implicated in dystonia and sepiapterin reductase deficiency. Orthologous to human SPR (sepiapterin reductase). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in kidney adult (RPKM 25.9), liver adult (RPKM 22.1) and 27 other tissues See more
    Orthologs
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    Genomic context

    See Spr in Genome Data Viewer
    Location:
    6 C3; 6 37.15 cM
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (85110662..85114746, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (85133680..85137764, complement)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_16493 Neighboring gene nucleoplasmin 3, pseudogene 1 Neighboring gene predicted gene 5878 Neighboring gene predicted gene, 52864 Neighboring gene predicted pseudogene 10444 Neighboring gene predicted gene, 22893

    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) 
    • Targeted (2)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sepiapterin reductase (NADP+) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables sepiapterin reductase (NADP+) activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables sepiapterin reductase (NADP+) activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrion HDA PubMed 
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    sepiapterin reductase
    NP_035597.2

    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_011467.2NP_035597.2  sepiapterin reductase

      See identical proteins and their annotated locations for NP_035597.2

      Status: VALIDATED

      Source sequence(s)
      BY113096, BY590544, CK620382, W65601
      Consensus CDS
      CCDS51826.1
      UniProtKB/Swiss-Prot
      Q63996, Q64105
      UniProtKB/TrEMBL
      Q91XH5
      Related
      ENSMUSP00000048111.8, ENSMUST00000045986.8
      Conserved Domains (2) summary
      pfam00106
      Location:10213
      adh_short; short chain dehydrogenase
      cl21454
      Location:9261
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    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_000072.7 Reference GRCm39 C57BL/6J

      Range
      85110662..85114746 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)