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This gene encodes the catalytic subunit of glucose-6-phosphatase (G6Pase). G6Pase is located in the endoplasmic reticulum (ER) and catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosphate in the last step of the gluconeogenic and glycogenolytic pathways. Mutations in this gene result in autosomal recessive severe congenital neutropenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
G6PC3 (Glucose-6-Phosphatase Catalytic Subunit 3) is a Protein Coding gene. Diseases associated with G6PC3 include Neutropenia, Severe Congenital, 4, Autosomal Recessive and Neutropenia. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include glucose-6-phosphatase activity. An important paralog of this gene is G6PC2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004346 | glucose-6-phosphatase activity | IBA,IMP | 25492228 |
GO:0016787 | hydrolase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IDA | -- |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0016020 | membrane | IEA,IBA | 21873635 |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Galactose metabolism | ||
2 | Glucose metabolism |
.35
|
|
3 | Metabolism |
.40
|
|
4 | Hexose transport |
.85
|
|
5 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006094 | gluconeogenesis | TAS | -- |
GO:0006796 | phosphate-containing compound metabolic process | IEA | -- |
GO:0015760 | glucose-6-phosphate transport | IEA | -- |
GO:0016311 | dephosphorylation | IEA | -- |
GO:0051156 | glucose 6-phosphate metabolic process | IEA,IBA | 21873635 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | · | 7c | · | 7d | · | 7e |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | ||||||||||||||||||||||||||||
SP5: | - | - | - | - | |||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||||||
SP9: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | G6PC3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | G6PC3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | G6PC3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | G6pc3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | G6pc3 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | G6PC3 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | G6PC3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | G6PC3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | G6PC3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | g6pc3.1 30 |
|
||
Str.15098 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | g6pc3 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.2593 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG15400 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
847646 | Uncertain Significance: Severe congenital neutropenia 4, autosomal recessive | 44,075,036(+) |
A/G NM_138387.3(G6PC3):c.484A>G (p.Ile162Val) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON | |
849957 | Uncertain Significance: Severe congenital neutropenia 4, autosomal recessive | 44,074,773(+) |
A/G NM_138387.3(G6PC3):c.416+3A>G |
INTRON | |
850327 | Uncertain Significance: Severe congenital neutropenia 4, autosomal recessive | 44,075,826(+) |
G/A NM_138387.3(G6PC3):c.824G>A (p.Arg275Gln) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR | |
851336 | Uncertain Significance: Severe congenital neutropenia 4, autosomal recessive | 44,075,910(+) |
C/A NM_138387.3(G6PC3):c.908C>A (p.Pro303His) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR | |
853860 | Uncertain Significance: Severe congenital neutropenia 4, autosomal recessive | 44,071,140(+) |
T/C NM_138387.3(G6PC3):c.175T>C (p.Trp59Arg) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1146669 | OTHER | inversion | 26484159 |
nsv833454 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
neutropenia, severe congenital, 4, autosomal recessive |
|
|
neutropenia |
|
|
severe congenital neutropenia |
|
|
severe congenital neutropenia 4 |
|
|
g6pc3 deficiency |
|
|