Details for: SPR

Gene ID: 6697

Symbol: SPR

Ensembl ID: ENSG00000116096

Description: sepiapterin reductase

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 2.49
    Marker Score: 3099
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.8
    Marker Score: 3137
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 1.3
    Marker Score: 4081
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.11
    Marker Score: 2537
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.11
    Marker Score: 2635
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 1.07
    Marker Score: 448
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 1.01
    Marker Score: 290
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71793
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48017
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30406
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.97
    Marker Score: 498
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.97
    Marker Score: 1003
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.96
    Marker Score: 2189
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.96
    Marker Score: 452
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.95
    Marker Score: 14942
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2410
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.94
    Marker Score: 469.5
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.94
    Marker Score: 4512
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5344
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2730
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.89
    Marker Score: 319
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5275
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.87
    Marker Score: 479
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.8
    Marker Score: 300
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.79
    Marker Score: 834.5
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.79
    Marker Score: 1130
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1269
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.77
    Marker Score: 1621
  • Cell Name: T-helper 17 cell (CL0000899)
    Fold Change: 0.76
    Marker Score: 501
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 0.76
    Marker Score: 1224.5
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.75
    Marker Score: 388
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.74
    Marker Score: 298
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.74
    Marker Score: 928
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.74
    Marker Score: 562.5
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.73
    Marker Score: 484.5
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.73
    Marker Score: 729.5
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.73
    Marker Score: 426
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 0.72
    Marker Score: 4612
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 0.71
    Marker Score: 9535
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.71
    Marker Score: 175
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.7
    Marker Score: 1168
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.7
    Marker Score: 639
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.69
    Marker Score: 1751
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 0.69
    Marker Score: 218
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.68
    Marker Score: 174
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 0.68
    Marker Score: 5875
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.68
    Marker Score: 252
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 0.68
    Marker Score: 17305
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 0.66
    Marker Score: 3490
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.66
    Marker Score: 2758
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.65
    Marker Score: 1320
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 0.65
    Marker Score: 3932
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 0.64
    Marker Score: 988
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.64
    Marker Score: 2194
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.61
    Marker Score: 149
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.61
    Marker Score: 392
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.61
    Marker Score: 964
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.59
    Marker Score: 2101
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.57
    Marker Score: 2206
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.57
    Marker Score: 239
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.57
    Marker Score: 808
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.57
    Marker Score: 565
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 0.56
    Marker Score: 538
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.55
    Marker Score: 1504.5
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 435
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.55
    Marker Score: 803
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.54
    Marker Score: 253
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.53
    Marker Score: 1245
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.52
    Marker Score: 4459
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.52
    Marker Score: 2032
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 0.51
    Marker Score: 3336
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 0.49
    Marker Score: 3856.5
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.48
    Marker Score: 844
  • Cell Name: serous secreting cell (CL0000313)
    Fold Change: 0.47
    Marker Score: 187
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.46
    Marker Score: 107
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.46
    Marker Score: 210
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.45
    Marker Score: 303
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.45
    Marker Score: 129
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 0.45
    Marker Score: 1169
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.44
    Marker Score: 447
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 0.44
    Marker Score: 111
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.43
    Marker Score: 206
  • Cell Name: stromal cell of lamina propria of small intestine (CL0009022)
    Fold Change: 0.42
    Marker Score: 95
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.42
    Marker Score: 206
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 0.42
    Marker Score: 216
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.41
    Marker Score: 186
  • Cell Name: epithelial cell of stratum germinativum of esophagus (CL1000447)
    Fold Change: 0.41
    Marker Score: 98
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.4
    Marker Score: 396
  • Cell Name: paneth cell (CL0000510)
    Fold Change: 0.4
    Marker Score: 281
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.4
    Marker Score: 2974
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.4
    Marker Score: 98
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 0.4
    Marker Score: 752
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.39
    Marker Score: 114
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.39
    Marker Score: 962
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.38
    Marker Score: 95
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.38
    Marker Score: 158
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.38
    Marker Score: 99.5
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.37
    Marker Score: 1612
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 0.37
    Marker Score: 192
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.37
    Marker Score: 162

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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 EPD 1 Ensembl 1 EvolutionaryTrace 1 GO 8 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 16 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 UniProtKB 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. For the full schema, download it here.