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

Gene ID: 6697, updated on 5-Apr-2015
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; HPRD:01632; 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
See SPR in MapViewer
Location:
2p14-p12
Exon count:
3
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 uncharacterized LOC105374799 Neighboring gene exocyst complex component 6B Neighboring gene ribosomal protein S15a pseudogene 13 Neighboring gene zinc finger, MYM-type 1 pseudogene Neighboring gene empty spiracles homeobox 1

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
L-phenylalanine metabolic process IEA
Inferred from Electronic Annotation
more info
 
cell morphogenesis involved in neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
death IEA
Inferred from Electronic Annotation
more info
 
dopamine metabolic process IEA
Inferred from Electronic Annotation
more info
 
nitric oxide biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
nitric oxide metabolic process TAS
Traceable Author Statement
more info
 
norepinephrine metabolic process IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process TAS
Traceable Author Statement
more info
PubMed 
pteridine metabolic process IEA
Inferred from Electronic Annotation
more info
 
regulation of multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
regulation of nitric-oxide synthase activity TAS
Traceable Author Statement
more info
 
serotonin metabolic process IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
tetrahydrobiopterin biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
voluntary musculoskeletal movement IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
Preferred Names
sepiapterin reductase
Names
sepiapterin reductase
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, OTTHUMP00000160199, ENST00000234454, OTTHUMT00000251993
    Conserved Domains (2) summary
    cd05367
    Location:9260
    SPR-like_SDR_c; sepiapterin reductase (SPR)-like, classical (c) SDRs
    pfam00106
    Location:9187
    adh_short; short chain dehydrogenase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p2 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)