Glucose-6-phosphatase 3 - Homo sapiens (Human)

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Reviewed, UniProtKB/Swiss-Prot Q9BUM1 (G6PC3_HUMAN)

Last modified July 7, 2009. Version 61. History...

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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

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Names and origin

Protein names

Recommended name:
    Glucose-6-phosphatase 3
      Short name=G-6-Pase 3
      Short name=G6Pase 3
    EC=3.1.3.9
Alternative name(s):
    Glucose-6-phosphatase beta
      Short name=G6Pase-beta
    Ubiquitous glucose-6-phosphatase catalytic subunit-related protein

Gene names

Name:	G6PC3
Synonyms:	UGRP

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length	346 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

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General annotation (Comments)

Function	Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. May form with the glucose-6-phosphate transporter (SLC37A4/G6PT) a ubiquitously expressed complex responsible for glucose production through glycogenolysis and gluconeogenesis. Probably required for normal neutrophil function. Ref.3 Ref.4 Ref.5
Catalytic activity	D-glucose 6-phosphate + H₂O = D-glucose + phosphate. Ref.4
Enzyme regulation	Inhibited by vanadate. Ref.5
Pathway	Carbohydrate biosynthesis; gluconeogenesis.
Subcellular location	Endoplasmic reticulum membrane; Multi-pass membrane protein. Ref.5
Tissue specificity	Ubiquitously expressed. Highly expressed in skeletal muscle, at intermediate levels in heart, brain, placenta, kidney, colon, thymus, spleen and pancreas. Also detected in testis, prostate, ovary, liver, lung, small intestine and peripheral blood lymphocytes. Ref.3 Ref.4 Ref.7
Involvement in disease	Defects in G6PC3 are the cause of autosomal recessive severe congenital neutropenia type 4 (SCN4) [MIM:612541]. Autosomal recessive SCN constitutes a primary immunodeficiency syndrome associated with increased apoptosis in myeloid cells. Individuals show a paucity of mature neutrophils in peripheral blood and bone marrow and develop life-threatening bacterial infections. SCN4 is a severe congenital neutropenia syndrome associated with cardiac and urogenital malformations.
Sequence similarities	Belongs to the glucose-6-phosphatase family.
Caution	According to Ref.3 it has no hydrolytic activity.
Biophysicochemical properties	Kinetic parameters: 8 times less active compared to G6PC under the same experimental conditions. K_M=1.0 mM for glucose-6-phosphate (at pH 5.5.) K_M=2.0 mM for glucose-6-phosphate (at pH 6.5.)

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Ontologies

Keywords
Biological process	Gluconeogenesis
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Domain	Transmembrane
Molecular function	Hydrolase
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	gluconeogenesis Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	glucose-6-phosphatase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 346

346

Glucose-6-phosphatase 3

PRO_0000334512

Regions

Topological domain

1 – 24

Lumenal Potential

Transmembrane

25 – 45

Potential

Topological domain

46 – 54

Cytoplasmic Potential

Transmembrane

55 – 75

Potential

Topological domain

76 – 114

Lumenal Potential

Transmembrane

115 – 135

Potential

Topological domain

136 – 146

Cytoplasmic Potential

Transmembrane

147 – 164

Potential

Topological domain

165 – 169

Lumenal Potential

Transmembrane

170 – 186

Potential

Topological domain

187 – 197

Cytoplasmic Potential

Transmembrane

198 – 218

Potential

Topological domain

219 – 254

Lumenal Potential

Transmembrane

255 – 273

Potential

Topological domain

274 – 283

Cytoplasmic Potential

Transmembrane

284 – 304

Potential

Topological domain

305 – 307

Lumenal Potential

Transmembrane

308 – 328

Potential

Topological domain

329 – 346

Cytoplasmic Potential

Sites

Active site

114

Proton donor Potential

Active site

167

Nucleophile Ref.6

Binding site

Substrate Potential

Binding site

161

Substrate Potential

Natural variations

Natural variant

185

L → P in SCN4.

VAR_055156

Natural variant

216

T → I: dbSNP rs34406052.

VAR_043378

Natural variant

253

R → H in SCN4; the mutant protein has no phosphatase activity in vitro; electron microscopic studies show enlarged rough endoplasmic reticulum consistent with increased stress.

VAR_055157

Natural variant

262

G → R in SCN4.

VAR_055158

Experimental info

Mutagenesis

R → A: Loss of catalytic activity. Ref.5

Mutagenesis

114

H → A: Loss of catalytic activity. Ref.5

Mutagenesis

167

H → A: Loss of catalytic activity. Ref.5

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Sequences

Sequence

Length

Mass (Da)

Tools

Q9BUM1-1 [UniParc].

Last modified March 1, 2004. Version 2.
Checksum: 55C1F322E59C8439
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FASTA

346

38,735

        10         20         30         40         50         60 
MESTLGAGIV IAEALQNQLA WLENVWLWIT FLGDPKILFL FYFPAAYYAS RRVGIAVLWI 

        70         80         90        100        110        120 
SLITEWLNLI FKWFLFGDRP FWWVHESGYY SQAPAQVHQF PSSCETGPGS PSGHCMITGA 

       130        140        150        160        170        180 
ALWPIMTALS SQVATRARSR WVRVMPSLAY CTFLLAVGLS RIFILAHFPH QVLAGLITGA 

       190        200        210        220        230        240 
VLGWLMTPRV PMERELSFYG LTALALMLGT SLIYWTLFTL GLDLSWSISL AFKWCERPEW 

       250        260        270        280        290        300 
IHVDSRPFAS LSRDSGAALG LGIALHSPCY AQVRRAQLGN GQKIACLVLA MGLLGPLDWL 

       310        320        330        340 
GHPPQISLFY IFNFLKYTLW PCLVLALVPW AVHMFSAQEA PPIHSS

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References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Eye and Skin.
[3]	"Identification and characterization of a human cDNA and gene encoding a ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein." Martin C.C., Oeser J.K., Svitek C.A., Hunter S.I., Hutton J.C., O'Brien R.M. J. Mol. Endocrinol. 29:205-222(2002) [PubMed: 12370122] [Abstract] Cited for: FUNCTION, TISSUE SPECIFICITY.
[4]	"Identification and characterisation of a new human glucose-6-phosphatase isoform." Guionie O., Clottes E., Stafford K., Burchell A. FEBS Lett. 551:159-164(2003) [PubMed: 12965222] [Abstract] Cited for: FUNCTION, CATALYTIC ACTIVITY, BIOPHYSICOCHEMICAL PROPERTIES, TISSUE SPECIFICITY.
[5]	"A glucose-6-phosphate hydrolase, widely expressed outside the liver, can explain age-dependent resolution of hypoglycemia in glycogen storage disease type Ia." Shieh J.-J., Pan C.-J., Mansfield B.C., Chou J.Y. J. Biol. Chem. 278:47098-47103(2003) [PubMed: 13129915] [Abstract] Cited for: FUNCTION, BIOPHYSICOCHEMICAL PROPERTIES, ENZYME REGULATION, SUBCELLULAR LOCATION, MUTAGENESIS OF ARG-79; HIS-114 AND HIS-167.
[6]	"Histidine 167 is the phosphate acceptor in glucose-6-phosphatase-beta forming a phosphohistidine enzyme intermediate during catalysis." Ghosh A., Shieh J.-J., Pan C.-J., Chou J.Y. J. Biol. Chem. 279:12479-12483(2004) [PubMed: 14718531] [Abstract] Cited for: TOPOLOGY, ACTIVE SITE.
[7]	"Identification and characterization of a cDNA and the gene encoding the mouse ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein." Boustead J.N., Martin C.C., Oeser J.K., Svitek C.A., Hunter S.I., Hutton J.C., O'Brien R.M. J. Mol. Endocrinol. 32:33-53(2004) [PubMed: 14765991] [Abstract] Cited for: TISSUE SPECIFICITY.
[8]	"A syndrome with congenital neutropenia and mutations in G6PC3." Boztug K., Appaswamy G., Ashikov A., Schaeffer A.A., Salzer U., Diestelhorst J., Germeshausen M., Brandes G., Lee-Gossler J., Noyan F., Gatzke A.-K., Minkov M., Greil J., Kratz C., Petropoulou T., Pellier I., Bellanne-Chantelot C., Rezaei N. Klein C. N. Engl. J. Med. 360:32-43(2009) [PubMed: 19118303] [Abstract] Cited for: VARIANTS SCN4 PRO-185; HIS-253 AND ARG-262, CHARACTERIZATION OF VARIANT SCN4 HIS-253.

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Cross-references

Sequence databases
	CH471178 Genomic DNA. Translation: EAW51638.1. BC002494 mRNA. Translation: AAH02494.2. BC021574 mRNA. Translation: AAH21574.1.
IPI	IPI00031052.
RefSeq	NP_612396.1.
UniGene	Hs.294005
3D structure databases
ModBase	Search...
Proteomic databases
PeptideAtlas	Q9BUM1.
PRIDE	Q9BUM1.
Genome annotation databases
Ensembl	ENSG00000141349. Homo sapiens. [Contig view]
GeneID	92579.
KEGG	hsa:92579.
NMPDR	fig\|9606.3.peg.13854.
UCSC	uc002iex.1. human.
Organism-specific databases
GeneCards	GC17P039503.
HGNC	HGNC:24861. G6PC3.
MIM	611045. gene. 612541. phenotype.
Orphanet	42738. Neutropenia, congenital. 486. Severe congenital neutropenia.
PharmGKB	PA134968446.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q9BUM1.
HOVERGEN	Q9BUM1.
OMA	Q9BUM1. GIAVLWI.
Gene expression databases
ArrayExpress	Q9BUM1.
Bgee	Q9BUM1.
CleanEx	HS_G6PC3.
Family and domain databases
InterPro	IPR016275. Glucose-6-phosphatase. IPR000326. P_Acid_Pase_2/haloperoxidase. [Graphical view]
Pfam	PF01569. PAP2. 1 hit. [Graphical view]
PIRSF	PIRSF000905. Glucose-6-phosphatase. 1 hit.
SMART	SM00014. acidPPc. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	77803.
SOURCE	Search...

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Entry information

Entry name

G6PC3_HUMAN

Accession

Primary (citable) accession number: Q9BUM1
Secondary accession number(s): Q8WU15

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 20, 2008
Last sequence update:	March 1, 2004
Last modified:	July 7, 2009
This is version 61 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

PATHWAY comments

Index of metabolic and biosynthesis pathways

SIMILARITY comments

Index of protein domains and families

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Sequence annotation (Features)

Molecule processing

Regions

Sites

Natural variations

Experimental info

Sequences

References

Cross-references

Sequence databases

3D structure databases

Proteomic databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Gene expression databases

Family and domain databases

Other Resources

Entry information

Relevant documents