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SPR

GENERAL INFORMATION

Gene name

 SPR

Gene description

 Sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)

Protein class

 Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 1
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Mainly cytoplasmic expression with a granular pattern in most tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. Pending external verification.

Reliability score

 Uncertain based on 1 antibody.
HPA039505
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 SPR (HGNC Symbol)

Synonyms

 SDR38C1

Description

 Sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) (HGNC Symbol)

Entrez gene 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]

Chromosome

 2

Cytoband

 p13.2

Chromosome location (bp)

 72887360 - 72892158

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000116096 (version 83.38)

Entrez gene

 6697

UniProt

 P35270 (UniProt - Evidence at protein level)

neXtProt

 NX_P35270

Antibodypedia

 SPR antibodies

PROTEIN BROWSER
SPR-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
SPR-001
ENSP00000234454
ENST00000234454
P35270 [Direct mapping]
Sepiapterin reductase
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Enzymes
   ENZYME proteins
   Oxidoreductases
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004033 [aldo-keto reductase (NADP) activity]
GO:0004757 [sepiapterin reductase activity]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005829 [cytosol]
GO:0006558 [L-phenylalanine metabolic process]
GO:0006729 [tetrahydrobiopterin biosynthetic process]
GO:0006809 [nitric oxide biosynthetic process]
GO:0008152 [metabolic process]
GO:0016491 [oxidoreductase activity]
GO:0019889 [pteridine metabolic process]
GO:0040014 [regulation of multicellular organism growth]
GO:0042415 [norepinephrine metabolic process]
GO:0042417 [dopamine metabolic process]
GO:0042428 [serotonin metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0046146 [tetrahydrobiopterin metabolic process]
GO:0046209 [nitric oxide metabolic process]
GO:0048667 [cell morphogenesis involved in neuron differentiation]
GO:0050661 [NADP binding]
GO:0050882 [voluntary musculoskeletal movement]
GO:0050999 [regulation of nitric-oxide synthase activity]
GO:0055114 [oxidation-reduction process]
GO:0070062 [extracellular exosome]
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 261 aa
28 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.