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SPR sepiapterin reductase [ Homo sapiens (human) ]

Gene ID: 6697, updated on 9-Dec-2018

Summary

Official Symbol
SPRprovided by HGNC
Official Full Name
sepiapterin reductaseprovided by HGNC
Primary source
HGNC:HGNC:11257
See related
Ensembl:ENSG00000116096 MIM:182125
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

Genomic context

See SPR in Genome Data Viewer
Location:
2p13.2
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 VISTA enhancer hs1025 Neighboring gene zinc finger MYM-type containing 1 pseudogene

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IBA
Inferred from Biological aspect of Ancestor
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
cofactor metabolic process TAS
Traceable Author Statement
more info
 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 HDA PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

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)

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_003124.5NP_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
    P35270
    Related
    ENSP00000234454.5, ENST00000234454.5
    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 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

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