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    SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) [ Homo sapiens (human) ]

    Gene ID: 6697, updated on 21-May-2017
    Official Symbol
    SPRprovided by HGNC
    Official Full Name
    sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)provided by HGNC
    Primary source
    HGNC:HGNC:11257
    See related
    Ensembl:ENSG00000116096 MIM:182125; Vega:OTTHUMG00000129777
    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]
    Orthologs
    Location:
    2p13.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (72887383..72892160)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (73114512..73119289)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene exocyst complex component 6B Neighboring gene ribosomal protein S15a pseudogene 13 Neighboring gene RNA, U2 small nuclear 39, pseudogene Neighboring gene zinc finger MYM-type containing 1 pseudogene Neighboring gene empty spiracles homeobox 1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NADP binding TAS
    Traceable Author Statement
    more info
    PubMed 
    aldo-keto reductase (NADP) activity TAS
    Traceable Author Statement
    more info
    PubMed 
    sepiapterin reductase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sepiapterin reductase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    nitric oxide biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    oxidation-reduction process TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of nitric-oxide synthase activity TAS
    Traceable Author Statement
    more info
     
    tetrahydrobiopterin biosynthetic process TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    sepiapterin reductase
    Names
    short chain dehydrogenase/reductase family 38C, member 1
    NP_003115.1

    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
      5001..9778
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003124.4NP_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
      P35270
      Related
      ENSP00000234454.5, OTTHUMP00000160199, ENST00000234454.5, OTTHUMT00000251993
      Conserved Domains (2) summary
      TIGR01500
      Location:8260
      sepiapter_red; sepiapterin reductase
      pfam00106
      Location:9212
      adh_short; short chain dehydrogenase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      72887383..72892160
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      73044688..73049465
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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