SPR

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Mixed
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Mainly cytoplasmic expression with a granular pattern in most tissues.

ANTIBODY RELIABILITY

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Data reliability
description

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

Data reliability

Uncertain based on 1 antibody.
HPA039505
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Mixed

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

6697

UniProt

P35270 (UniProt - Evidence at protein level)

neXtProt

NX_P35270

Antibodypedia

SPR antibodies


PROTEIN BROWSER

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ENST00000234454
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SPR-001 ENSP00000234454
ENST00000234454
P35270
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