Details for: SPR

Gene ID: 6697

Symbol: SPR

Ensembl ID: ENSG00000116096

Description: sepiapterin reductase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 75.1550
    Cell Significance Index: -11.6900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 46.0489
    Cell Significance Index: -11.6800
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 25.7965
    Cell Significance Index: -10.4800
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 25.0147
    Cell Significance Index: -11.8100
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 17.6075
    Cell Significance Index: -11.8200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 9.4975
    Cell Significance Index: -11.7100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 2.9802
    Cell Significance Index: -11.7600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 1.3710
    Cell Significance Index: 159.7800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.2684
    Cell Significance Index: 137.9700
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.0708
    Cell Significance Index: 17.1800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.9912
    Cell Significance Index: 44.9300
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.9904
    Cell Significance Index: 14.8400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.6809
    Cell Significance Index: 47.0900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.6580
    Cell Significance Index: 17.6300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6254
    Cell Significance Index: 564.6800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.5911
    Cell Significance Index: 16.0900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.5446
    Cell Significance Index: 25.3900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.4865
    Cell Significance Index: 25.2700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3420
    Cell Significance Index: 33.8300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.3090
    Cell Significance Index: 52.7700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.3047
    Cell Significance Index: 9.7600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.2882
    Cell Significance Index: 21.4800
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.2793
    Cell Significance Index: 2.8900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2779
    Cell Significance Index: 6.0200
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.2664
    Cell Significance Index: 3.6400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.2122
    Cell Significance Index: 4.5200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1780
    Cell Significance Index: 4.4500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1709
    Cell Significance Index: 30.8000
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.1665
    Cell Significance Index: 2.8000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1526
    Cell Significance Index: 24.8200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1468
    Cell Significance Index: 80.1900
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.1373
    Cell Significance Index: 1.5600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.1226
    Cell Significance Index: 8.6700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1066
    Cell Significance Index: 21.1500
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.1065
    Cell Significance Index: 2.4600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0981
    Cell Significance Index: 43.3700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0977
    Cell Significance Index: 12.0100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0838
    Cell Significance Index: 10.7400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0698
    Cell Significance Index: 13.2800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0621
    Cell Significance Index: 8.5300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.0330
    Cell Significance Index: 1.7200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0229
    Cell Significance Index: 17.3700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0207
    Cell Significance Index: 0.9800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0176
    Cell Significance Index: 2.2800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0006
    Cell Significance Index: 0.0200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0014
    Cell Significance Index: -1.0700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0016
    Cell Significance Index: -0.9900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0043
    Cell Significance Index: -8.0200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0054
    Cell Significance Index: -3.9500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0080
    Cell Significance Index: -4.5000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0089
    Cell Significance Index: -0.9100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0095
    Cell Significance Index: -17.5700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0115
    Cell Significance Index: -17.6400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0130
    Cell Significance Index: -17.6400
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.0158
    Cell Significance Index: -0.2500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0166
    Cell Significance Index: -10.5300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0198
    Cell Significance Index: -4.1700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0198
    Cell Significance Index: -3.9800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0221
    Cell Significance Index: -6.3600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0246
    Cell Significance Index: -8.8100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0274
    Cell Significance Index: -12.4500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0279
    Cell Significance Index: -3.2000
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.0282
    Cell Significance Index: -0.2300
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: -0.0315
    Cell Significance Index: -0.1500
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0321
    Cell Significance Index: -3.6600
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0408
    Cell Significance Index: -2.0600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0519
    Cell Significance Index: -1.5000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0528
    Cell Significance Index: -1.4100
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0552
    Cell Significance Index: -2.2600
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0628
    Cell Significance Index: -0.6500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0634
    Cell Significance Index: -9.2200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0691
    Cell Significance Index: -1.9300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0875
    Cell Significance Index: -2.3000
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.0980
    Cell Significance Index: -1.4100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1029
    Cell Significance Index: -12.1400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1133
    Cell Significance Index: -11.8000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1176
    Cell Significance Index: -9.3100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1413
    Cell Significance Index: -8.6600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1423
    Cell Significance Index: -7.4700
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.1460
    Cell Significance Index: -2.1200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1517
    Cell Significance Index: -11.6500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1545
    Cell Significance Index: -10.3900
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: -0.1706
    Cell Significance Index: -1.0500
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.1781
    Cell Significance Index: -1.6400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1872
    Cell Significance Index: -11.8000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1879
    Cell Significance Index: -12.1200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2058
    Cell Significance Index: -12.6500
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.2095
    Cell Significance Index: -1.7600
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.2179
    Cell Significance Index: -4.5200
  • Cell Name: germ cell (CL0000586)
    Fold Change: -0.2285
    Cell Significance Index: -1.7300
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.2332
    Cell Significance Index: -1.5800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2340
    Cell Significance Index: -13.1300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2346
    Cell Significance Index: -6.0300
  • Cell Name: enterocyte (CL0000584)
    Fold Change: -0.2418
    Cell Significance Index: -1.5000
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.2419
    Cell Significance Index: -8.8800
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2497
    Cell Significance Index: -6.6800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2794
    Cell Significance Index: -12.3600
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: -0.3078
    Cell Significance Index: -4.2700
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3127
    Cell Significance Index: -9.2100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3160
    Cell Significance Index: -10.9800

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **BH4 Biosynthesis:** SPR is responsible for the reduction of sepiapterin to BH4, a crucial step in the biosynthesis of this essential cofactor. 2. **Nitric Oxide Signaling:** BH4 is a critical cofactor for NOS enzymes, which produce nitric oxide (NO) in response to various physiological stimuli. 3. **Recycling and Salvage:** SPR participates in the recycling and salvage of BH4, ensuring its availability for downstream enzymatic reactions. 4. **Expression in Various Cell Types:** SPR is significantly expressed in a range of cell types, including retinal ganglion cells, germ cells, and stem cells. **Pathways and Functions:** 1. **Aldo-Keto Reductase (NADP) Activity:** SPR is involved in the reduction of sepiapterin to BH4, a reaction that requires NADPH as a cofactor. 2. **Enos Activation:** SPR has been implicated in the regulation of endothelial nitric oxide synthase (eNOS) activity, which is essential for vascular tone regulation. 3. **Metabolism of Cofactors:** SPR participates in the metabolism of cofactors, including BH4 and NADPH. 4. **Nitric Oxide Biosynthetic Process:** BH4 is a critical cofactor for NOS enzymes, which produce NO in response to various physiological stimuli. 5. **Tetrahydrobiopterin Biosynthetic Process:** SPR is essential for the biosynthesis of BH4, a process that is critical for maintaining cellular homeostasis. **Clinical Significance:** 1. **Vascular Disease:** Alterations in BH4 levels have been implicated in various vascular diseases, including hypertension, atherosclerosis, and peripheral artery disease. 2. **Neurological Disorders:** Dysregulation of BH4 metabolism has been linked to neurological disorders, including Parkinson's disease, multiple sclerosis, and schizophrenia. 3. **Cancer:** BH4 metabolism is also critical in cancer biology, with alterations in BH4 levels potentially contributing to tumorigenesis and cancer progression. 4. **Nutritional Deficiencies:** Deficiencies in BH4 precursors, such as vitamin B6 and folate, can lead to impaired BH4 biosynthesis and contribute to various diseases. In conclusion, the study of SPR has significant implications for our understanding of BH4 biosynthesis, nitric oxide signaling, and the regulation of various physiological processes. Further research is needed to fully elucidate the role of SPR in maintaining cellular homeostasis and to explore its potential as a therapeutic target in various diseases.

Genular Protein ID: 1570229914

Symbol: SPRE_HUMAN

Name: Sepiapterin reductase

UniProtKB Accession Codes:

P35270 A8K741 D6W5H2 Q53GI9 Q9UBB1

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 15 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 4 EC 2 EMBL 8 Ensembl 1 EvolutionaryTrace 1 GO 8 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 14 PDBsum 14 PIR 1 PRINTS 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 1 Rhea 4 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1883349

Title: Cloning and sequencing of cDNA encoding human sepiapterin reductase -- an enzyme involved in tetrahydrobiopterin biosynthesis.

PubMed ID: 1883349

DOI: 10.1016/0006-291x(91)91352-d

PubMed ID: 8440319

Title: Detection of a novel sepiapterin reductase mRNA: assay of mRNA in various cells and tissues of various species.

PubMed ID: 8440319

DOI: 10.1006/excr.1993.1027

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9792819

Title: Genomic organization and chromosomal localization of the human sepiapterin reductase gene.

PubMed ID: 9792819

DOI: 10.1006/bbrc.1998.9503

PubMed ID: 10350607

Title: Functionally important residues tyrosine-171 and serine-158 in sepiapterin reductase.

PubMed ID: 10350607

DOI: 10.1016/s0167-4838(99)00054-0

PubMed ID: 11825621

Title: Mutational analysis of sites in sepiapterin reductase phosphorylated by Ca2+/calmodulin-dependent protein kinase II.

PubMed ID: 11825621

DOI: 10.1016/s0167-4838(01)00300-4

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 11443547

Title: Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.

PubMed ID: 11443547

DOI: 10.1086/321970

PubMed ID: 16650784

Title: Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.

PubMed ID: 16650784

DOI: 10.1016/j.ymgme.2006.03.010

PubMed ID: 17159114

Title: Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency.

PubMed ID: 17159114

DOI: 10.1212/01.wnl.0000247274.21261.b4

Sequence Information:

  • Length: 261
  • Mass: 28048
  • Checksum: 9C9BF76212826F47
  • Sequence:
    • MEGGLGRAVC LLTGASRGFG RTLAPLLASL LSPGSVLVLS ARNDEALRQL EAELGAERSG 
LRVVRVPADL GAEAGLQQLL GALRELPRPK GLQRLLLINN AGSLGDVSKG FVDLSDSTQV 
NNYWALNLTS MLCLTSSVLK AFPDSPGLNR TVVNISSLCA LQPFKGWALY CAGKAARDML 
FQVLALEEPN VRVLNYAPGP LDTDMQQLAR ETSVDPDMRK GLQELKAKGK LVDCKVSAQK 
LLSLLEKDEF KSGAHVDFYD K

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.