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    SPR sepiapterin reductase [ Homo sapiens (human) ]

    Gene ID: 6697, updated on 27-Nov-2024

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    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)

    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.

    Genomic

    1. NG_008234.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_003124.5NP_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:8260
      sepiapter_red; sepiapterin reductase
      pfam00106
      Location:9212
      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)