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    SPR sepiapterin reductase [ Homo sapiens (human) ]

    Gene ID: 6697, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SPRprovided by HGNC
    Official Full Name
    sepiapterin reductaseprovided by HGNC
    Primary source
    HGNC:HGNC:11257
    See related
    Ensembl:ENSG00000116096 MIM:182125; AllianceGenome:HGNC:11257
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SDR38C1
    Summary
    This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene result in DOPA-responsive dystonia due to sepiaterin reductase deficiency. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in kidney (RPKM 23.8), colon (RPKM 21.8) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SPR in Genome Data Viewer
    Location:
    2p13.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (72887408..72892158)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (72900349..72905099)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (73114537..73119287)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene exocyst complex component 6B Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:72978191-72979035 Neighboring gene small nucleolar RNA SNORD78 Neighboring gene RNA, U2 small nuclear 39, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72999013-72999514 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72999515-73000014 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:73052157-73052667 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11625 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:73110580-73110740 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11626 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:73115417-73115591 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:73119309-73119810 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16021 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16022 Neighboring gene VISTA enhancer hs1025 Neighboring gene CRISPRi-validated cis-regulatory element chr2.2721 Neighboring gene zinc finger MYM-type containing 1 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11627 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:73143395-73144012 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:73144013-73144629 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11629 Neighboring gene empty spiracles homeobox 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Sepiapterin Reductase Deficiency. Adam MP, et al. , 1993. PMID 26131547
    2. Two Greek siblings with sepiapterin reductase deficiency. Verbeek MM, et al. Mol Genet Metab, 2008 Aug. PMID 18502672
    3. A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood. Lohmann E, et al. Parkinsonism Relat Disord, 2012 Feb. PMID 22018912
    4. Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene. Koht J, et al. Acta Neurol Scand Suppl, 2014. PMID 24588500
    5. Polymorphisms of sepiapterin reductase gene alter promoter activity and may influence risk of bipolar disorder. McHugh PC, et al. Pharmacogenet Genomics, 2009 May. PMID 19415819

    See all (64) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies.
      Title: Molecular and metabolic bases of tetrahydrobiopterin (BH(4)) deficiencies.
    2. The allele frequencies for the SPR c.596-2A > G (0.7%) polymorphism is not a major cause of Parkinson's disease in the Maltese.
      Title: Genetic causes of Parkinson's disease in the Maltese: a study of selected mutations in LRRK2, MTHFR, QDPR and SPR.
    3. We earlier presented evidence for a physical interaction between ODC and SPR and we showed that RNAi-mediated knockdown of SPR expression significantly reduced native ODC enzyme activity and impeded Neuroblastoma cell proliferation.
      Title: Effect of sulfasalazine on human neuroblastoma: analysis of sepiapterin reductase (SPR) as a new therapeutic target.
    4. new homozygous mutation in the SPR gene was found in two sisters with dopa-responsive dystonia
      Title: Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene.
    5. Authors identified SPR as a novel regulator of ODC enzyme activity and, based on clinical evidence, present a model in which SPR drives ODC-mediated malignant progression in neuroblastoma.
      Title: Novel interaction of ornithine decarboxylase with sepiapterin reductase regulates neuroblastoma cell proliferation.
    6. SPR-mediated reduction of sepiapterin and redox cycling occur by distinct mechanisms
      Title: Sepiapterin reductase mediates chemical redox cycling in lung epithelial cells.
    7. SRD can manifest as early-onset parkinsonism, widening the spectrum of the disease phenotype and adding to the genetic heterogeneity of the disease
      Title: A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood.
    8. this large association study for the SPR gene revealed no association for Parkinson disease worldwide.
      Title: Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease.
    9. We examine the sleep, sleep-wake rhythms, CSF neurotransmitters, and melatonin profile in a patient with sepiapterin reductase deficiency.
      Title: Sleep and rhythm consequences of a genetically induced loss of serotonin.
    10. Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NADP binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables aldo-keto reductase (NADPH) activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables sepiapterin reductase (NADP+) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables sepiapterin reductase (NADP+) activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in nitric oxide biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in tetrahydrobiopterin biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in tetrahydrobiopterin biosynthetic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in mitochondrion HTP PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    sepiapterin reductase
    Names
    Sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming)
    sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
    short chain dehydrogenase/reductase family 38C, member 1
    NP_003115.1

    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.

    Genomic

    1. NG_008234.1 RefSeqGene

      Range
      5026..9776
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003124.5 → NP_003115.1  sepiapterin reductase

      See identical proteins and their annotated locations for NP_003115.1

      Status: REVIEWED

      Source sequence(s)
      AC092630, BC017310, BF434649
      Consensus CDS
      CCDS1920.1
      UniProtKB/Swiss-Prot
      A8K741, D6W5H2, P35270, Q53GI9, Q9UBB1
      Related
      ENSP00000234454.5, ENST00000234454.6
      Conserved Domains (2) summary
      TIGR01500
      Location:8 → 260
      sepiapter_red; sepiapterin reductase
      pfam00106
      Location:9 → 212
      adh_short; short chain dehydrogenase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      72887408..72892158
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      72900349..72905099
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P35270.1 GenPept UniProtKB/Swiss-Prot:P35270

    Gene LinkOut

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

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