SPR - sepiapterin reductase Gene

Also Known as SDR38C1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6697

About SPR

Cytogenetic location: 2p13.2 Genomic coordinates (GRCh38): 2:72,887,408-72,892,158 (from NCBI)

This gene has 2 transcripts (splice variants), 240 orthologues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 23.8), colon (RPKM 21.8) and 24 other tissues.

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]

SPR Products (1)

mRNA	Protein	Name
NM_003124.5	NP_003115.1	sepiapterin reductase

Gene Ontology

Biological Process

Biological Process GO Annotation	Evidence	References	Source
involved in nitric oxide biosynthetic process	IDA IDA: Inferred from direct assay	15197144	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SPR Protein Structure

adh_short

0
100
200
261 a.a.

Protein Preferred Names	Protein Names
sepiapterin reductase	Sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming)

SPR Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P87084	SPR Antibody (YA6777)	WB, IHC-P, ICC/IF, FC	Human

Related Diseases

Diseases	Alias
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Sepiapterin Reductase Deficiency Spr Deficiency Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency Srd Drd Due To Srd Dopa-Responsive Hypersomnia Dyt-Spr Dyt/Park-Spr Sr-Deficient Drd Autosomal Recessive Sepiapterin Reductase-Deficient Drd Spr DRDSPRD Motor And Cognitive Disorder Due To Sepiapterin Reductase Deficiency Psychomotor Disorders
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Hyperphenylalaninemia	Hyperphenylalaninaemia
Dystonia, Dopa-Responsive	Dystonia 5 Dopa-Responsive Dystonia DRD Dyt5 Dystonia-Parkinsonism With Diurnal Fluctuation Dyt-Th Hpd With Diurnal Fluctuation Hereditary Progressive Dystonia With Diurnal Fluctuation Dystonia, Progressive, With Diurnal Variation Segawa Syndrome, Autosomal Dominant Dystonia, Dopa-Responsive, Autosomal Dominant Dopa-Responsive Dystonia, Autosomal Dominant Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia Dyt-Gch1 Dyt-Spr Dystonia 5, Dopa-Responsive Type Hereditary Progressive Dystonia With Marked Diurnal Fluctuation Autosomal Dominant Dopa-Responsive Dystonia Autosomal Dominant Segawa Syndrome Dystonia-5 Progressive Dystonia With Diurnal Fluctuation Dystonia, Type 5, Dopa-Responsive Type
Hyperphenylalaninemia, Bh4-Deficient, B	Gtp Cyclohydrolase I Deficiency HPABH4B Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Gtp Cyclohydrolase I Deficiency Bh4-Deficient Hyperphenylalaninemia B Gtp Cyclohydrolase 1 Deficiency Tetrahydrobiopterin-Deficient Hyperphenylalaninemia B Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Gtp Cyclohydrolase 1 Deficiency Gtpch Deficiency Hyperphenylalaninemia Due To Gtp Cyclohydrolase Deficiency Atypical Severe Phenylketonuria Due To Gtp Cyclohydrolase I Deficiency Gch1 Deficiency Guanosine Triphosphate Cyclohydrolase I Deficiency Hyperphenylalaninemia With Neopterin Deficiency
Hyperphenylalaninemia, Bh4-Deficient, A	6-Pyruvoyl-Tetrahydropterin Synthase Deficiency Pts Deficiency HPABH4A Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Pts Deficiency Ptsd Bh4-Deficient Hyperphenylalaninemia A Hyperphenylalaninemia Due To 6-Pyruvoyltetrahydropterin Synthase Deficiency Tetrahydobioperin-Deficient Hyperphenylalaninemia Due To Pts Deficiency Hyperphenylalanemia, Bh4-Deficient, A Hyperphenylalaninemia Due To 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency 6-Pyruvoyltetrahydropterin Synthase Deficiency Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due To Pts Deficiency Ptpsd Hyperphenylalaninemia, Bh4-Deficient, Type A
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease
Aromatic L-Amino Acid Decarboxylase Deficiency	Aadc Deficiency Dopa Decarboxylase Deficiency Ddc Deficiency Aromatic Amino Acid Decarboxylase Deficiency Deficiency Of Aromatic-L-Amino-Acid Decarboxylase AADCD Aromatic-L-Amino-Acid Decarboxylase Deficiency Aromatic L-Amino-Acid Decarboxylase Deficiency
Parkinson Disease 3, Autosomal Dominant	PARK3 Parkinson Disease 3 Parkinson Disease 3, Autosomal Dominant Lewy Body Parkinson'S Disease 3 Autosomal Dominant Lewy Body Parkinson Disease 3 Autosomal Dominant Parkinson Disease 3 Parkinson Disease Type 3 Autosomal Dominant Parkinson Disease Parkinson Disease, Autosomal Dominant Parkinson Disease, Familial, Type 1
Oculogyric Crisis
Segmental Dystonia
Movement Disease	Movement Disorders Movement Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval
Clinical Phase
Pre-clinical Phase

Approval

Bioactive MoleculesInhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P9905	Cetuximab	Inhibitor	99.81%	Unkown

Clinical Phase

Bioactive Molecules (9)

Cat. No.	Product Name	Effect	Purity	Phase
HY-101533	AZD-5991	Inhibitor	99.79%	Phase 2
HY-135655	Fobrepodacin disodium	Inhibitor	99.53%	Phase 2
HY-135655A	Fobrepodacin	Inhibitor	/	Phase 2
HY-128780B	SPR206 acetate	Inhibitor	98.88%	Phase 1
HY-P1649	SPR741	Inhibitor	99.08%	Phase 1
HY-P1649B	SPR741 acetate	Inhibitor	99.82%	Phase 1
HY-101533B	AZD-5991 (S-enantiomer)	Inhibitor	99.83%	Phase 1
HY-128780	Upleganan	Inhibitor	/	Phase 1
HY-P1649A	SPR741 TFA	Inhibitor	/	Phase 1

Pre-clinical Phase

Bioactive Molecules (51)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-13963	ZCL278	Inhibitor	98.49%	Unkown
HY-122611A	CSRM617 hydrochloride		99.97%	Unkown
HY-115510	SPR inhibitor 3	Inhibitor	99.01%	Unkown
HY-114388	QM385	Inducer	99.48%	Unkown
HY-135691	hnRNPK-IN-1		97.0%	Unkown
HY-101964	SPI-112	Inhibitor	98.01%	Unkown
HY-160477	DC-SX029	Inhibitor	98.07%	Unkown
HY-12930	SPR719	Inhibitor	99.39%	Unkown
HY-159652	KRAS inhibitor-31	Inhibitor	99.36%	Unkown
HY-P3143	BMSpep-57	Inhibitor	99.87%	Unkown
HY-Y1049	2-Amino-6-bromopyridine	Inhibitor	99.97%	Unkown
HY-177512	MSC778	Inhibitor	/	Unkown
HY-113603S	Tildacerfont-d8		99.97%	Unkown
HY-175207	CHI3L1-IN-3	Inhibitor	98.95%	Unkown
HY-W003471	Pyrrolo[2,1-f][1,2,4]triazin-4-amine	Inhibitor	/	Unkown
HY-176537	RGN6024		99.28%	Unkown
HY-116992	Chloroneb	Inhibitor	96.52%	Unkown
HY-113603	Tildacerfont	Inhibitor	98.60%	Unkown
HY-168847	INCB159020	Inhibitor	/	Unkown
HY-101931	hVEGF-IN-1	Inhibitor	99.25%	Unkown
HY-P3143A	BMSpep-57 hydrochloride	Inhibitor	99.69%	Unkown
HY-RS13708	SPR Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-184542	HSF1 ligand-1	Ligand	/	Unkown
HY-106915	SG-210	Inhibitor	/	Unkown
HY-122611	CSRM617		/	Unkown
HY-128453	LRH-1 antagonist-1	Antagonist	/	Unkown
HY-13963S	ZCL278-13C		/	Unkown
HY-150506	SPR7	Inhibitor	/	Unkown
HY-152220	SPR39	Inhibitor	/	Unkown
HY-152222	SPR38	Inhibitor	/	Unkown
HY-152224	SPR41	Inhibitor	/	Unkown
HY-160481	MG-1102	Inhibitor	/	Unkown
HY-161841	Antitumor agent-177	Inhibitor	/	Unkown
HY-168536	SJ46411		/	Unkown
HY-169311	KRAS inhibitor-37	Inhibitor	/	Unkown
HY-172196	LH168		/	Unkown
HY-175142	Prostaglandin E2-PEG11-biotin		/	Unkown
HY-176732	MJ-26	Inhibitor	/	Unkown
HY-181530	IAP ligand 6	Ligand	/	Unkown
HY-181685	LAGi-DEL	Inhibitor	/	Unkown
HY-182049	Antibacterial agent 332		/	Unkown
HY-184021	A-8531	Inhibitor	/	Unkown
HY-184236	Cbl-b-IN-34	Inhibitor	/	Unkown
HY-P3852	Neurokinin Receptor (393-407), rat		/	Unkown
HY-RS14143	TACR1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS14144	Tacr1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-156484	SPR519	Inhibitor	/	Unkown
HY-168535	SJ6145		/	Unkown
HY-181079	RANKL-IN-2	Inhibitor	/	Unkown
HY-RS16730	Spr Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23166	Spr Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Bioactive MoleculesInhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P9S0008	Cetuximab (PBS)	Inhibitor	99.33%	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SPR	MGD	MGI:103078
Felis catus	SPR	VGNC	VGNC:81225
Bos taurus	SPR	VGNC	VGNC:58612
Canis familiaris	SPR	VGNC	VGNC:49109
Rattus norvegicus	SPR	RGD	RGD:3753
Macaca mulatta	SPR	VGNC	VGNC:77866
Others	SPR	NCBI