PGLS 6-phosphogluconolactonase [Homo sapiens (human)] - Gene

Summary

Official Symbol: PGLSprovided by HGNC
Official Full Name: 6-phosphogluconolactonaseprovided by HGNC
Primary source: HGNC:HGNC:8903
See related: Ensembl:ENSG00000130313 MIM:604951; AllianceGenome:HGNC:8903
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: 6PGL; HEL-S-304
Summary: Enables 6-phosphogluconolactonase activity. Involved in pentose-phosphate shunt. Located in extracellular exosome. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in spleen (RPKM 10.2), colon (RPKM 9.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.11

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (17511649..17521288)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (17646286..17655924)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (17622458..17632097)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH103214 (e-PCR)
- UniSTS:97547

SHGC-63517 (e-PCR)
- UniSTS:39100

D19S205E (e-PCR)
- UniSTS:147173

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 6-phosphogluconolactonase activity	EXP Inferred from Experiment more info	PubMed
enables 6-phosphogluconolactonase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 6-phosphogluconolactonase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in carbohydrate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in pentose-phosphate shunt	IDA Inferred from Direct Assay more info	PubMed
involved_in pentose-phosphate shunt	TAS Traceable Author Statement more info
involved_in pentose-phosphate shunt, oxidative branch	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed

General protein information

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Preferred Names: 6-phosphogluconolactonase

Names: epididymis secretory protein Li 304; epididymis secretory sperm binding protein

NP_036220.1

EC 3.1.1.31

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.