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Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and glucose. This gene (G6PC) is one of the three glucose-6-phosphatase catalytic-subunit-encoding genes in human: G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the hydrolysis of ... See more...
Aliases for G6PC1 Gene
Aliases for G6PC1 Gene
External Ids for G6PC1 Gene
- HGNC: 4056
- NCBI Entrez Gene: 2538
- Ensembl: ENSG00000131482
- OMIM®: 613742
- UniProtKB/Swiss-Prot: P35575
Previous HGNC Symbols for G6PC1 Gene
- G6PT
- G6PC
Previous GeneCards Identifiers for G6PC1 Gene
- GC17P044138
Summaries for G6PC1 Gene
-
Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and glucose. This gene (G6PC) is one of the three glucose-6-phosphatase catalytic-subunit-encoding genes in human: G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate and is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Mutations in this gene cause glycogen storage disease type I (GSD1). This disease, also known as von Gierke disease, is a metabolic disorder characterized by severe hypoglycemia associated with the accumulation of glycogen and fat in the liver and kidneys.[provided by RefSeq, Feb 2011]
GeneCards Summary for G6PC1 Gene
G6PC1 (Glucose-6-Phosphatase Catalytic Subunit 1) is a Protein Coding gene. Diseases associated with G6PC1 include Glycogen Storage Disease Ia and Hypoglycemia. Among its related pathways are Insulin resistance and Galactose metabolism. An important paralog of this gene is G6PC2.
UniProtKB/Swiss-Prot Summary for G6PC1 Gene
-
Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. Forms with the glucose-6-phosphate transporter (SLC37A4/G6PT) the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it is the key enzyme in homeostatic regulation of blood glucose levels.
Additional gene information for G6PC1 Gene
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for G6PC1 Gene
Genomics for G6PC1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for G6PC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around G6PC1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for G6PC1
Genomic Locations for G6PC1 Gene
Latest Assembly
- chr17:42,900,797-42,914,438
- (GRCh38/hg38)
- Size:
- 13,642 bases
- Orientation:
- Plus strand
Previous Assembly
- chr17:41,052,816-41,066,455
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 13,640 bases
- Orientation:
- Plus strand
Genomic View for G6PC1 Gene
Genes around G6PC1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q21.31 by HGNC
- 17q21.31 by Entrez Gene
- 17q21.31 by Ensembl
G6PC1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for G6PC1 Gene
Proteins for G6PC1 Gene
-
Protein details for G6PC1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P35575-G6PC_HUMAN
- Recommended name:
- Glucose-6-phosphatase
- Protein Accession:
- P35575
- A1L4C0
- B4E1C3
- K7EL82
Protein attributes for G6PC1 Gene
- Size:
- 357 amino acids
- Molecular mass:
- 40484 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=BAG64735.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
Selected DME Specific Peptides for G6PC1 Gene
- P35575:
-
- LSFCKSA
- TCETGPGSPSGHAMG
- WVAVIGDW
- PTYRFRCLN
- GFYLLLKGLGVDLLWTLEKA
- DTTPFASL
- LVSVIADLRNAFYVLFPIWFH
- VPLASVS
- AGVYYVMVTSTL
- GLGLALNSSMYR
- FKWILFG
- DTDYYSN
- FDSLKPPSQ
- AHFPHQV
- LHDFGIQST
Post-translational modifications for G6PC1 Gene
Other Protein References for G6PC1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- GeneTex Anti-G6PC antibody, N-term
- Novus Biologicals Antibodies for G6PC1
- Invitrogen Antibodies for G6PC1 (AFLGC-G6PC)
-
Custom Antibody ServicesProSci Antibodies for G6PC1
Protein products for research
-
OriGene Purified Proteins for G6PC1
- Search Origene for MassSpec and Protein Over-expression Lysates for G6PC1
- Origene Custom Protein Services for G6PC1
-
Abcam proteins for G6PC1
Assay products for research
Domains & Families for G6PC1 Gene
Gene Families for G6PC1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted membrane proteins
Protein Domains for G6PC1 Gene
- InterPro:
- Blocks:
-
- PA-phosphatase related phosphoesterase
Suggested Antigen Peptide Sequences for G6PC1 Gene
- GenScript: Design optimal peptide antigens:
-
- Glucose-6-phosphatase alpha (G6PC_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P35575- Family:
-
- Belongs to the glucose-6-phosphatase family.
Function for G6PC1 Gene
Molecular function for G6PC1 Gene
- UniProtKB/Swiss-Prot Function:
- Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. Forms with the glucose-6-phosphate transporter (SLC37A4/G6PT) the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it is the key enzyme in homeostatic regulation of blood glucose levels.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=D-glucose 6-phosphate + H2O = D-glucose + phosphate; Xref=Rhea:RHEA:16689, ChEBI:CHEBI:4167, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:61548; EC=3.1.3.9;.
Enzyme Numbers (IUBMB) for G6PC1 Gene
Phenotypes From GWAS Catalog for G6PC1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004346 | glucose-6-phosphatase activity | IBA,IDA | 8211187 |
| GO:0005515 | protein binding | IPI | 32814053 |
| GO:0016773 | phosphotransferase activity, alcohol group as acceptor | IEA | -- |
| GO:0016787 | hydrolase activity | IEA | -- |
| GO:0042301 | phosphate ion binding | IMP | 12093795 |
Phenotypes for G6PC1 Gene
- MGI mutant phenotypes for G6PC1:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for G6PC1:
-
- Increased vaccinia virus (VACV) infection
- Increased epidermal growth factor (EGF) endocytosis, decreased endosome-nucleus distance (endosomes clustered in the perinuclear region)
- Decreased viability
- shRNA abundance <= 25%
- shRNA abundance <= 50%
- no effect
- Decreased viability (cell death)
- No cells
- Increased viability with SS1P at EC90
- Increased Erk phosphorylation after EGF stimulation
- Apoptosis resistance
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for G6PC1 - Starting at $85 >
- * G6PC1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for G6PC1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for G6PC1
miRNA for G6PC1 Gene
- miRTarBase miRNAs that target G6PC1
-
- hsa-miR-23a-3p (MIRT006281)
- hsa-miR-33b-5p (MIRT054921)
- hsa-miR-4309 (MIRT461650)
- hsa-miR-3198 (MIRT461651)
- hsa-miR-106a-3p (MIRT461652)
- hsa-miR-3650 (MIRT461653)
- hsa-miR-122-5p (MIRT461654)
- hsa-miR-504-3p (MIRT461655)
- hsa-miR-4726-3p (MIRT461656)
- hsa-miR-1298-3p (MIRT461657)
- hsa-miR-454-3p (MIRT461658)
- hsa-miR-3666 (MIRT461659)
- hsa-miR-4295 (MIRT461660)
- hsa-miR-301b-3p (MIRT461661)
- hsa-miR-301a-3p (MIRT461662)
- hsa-miR-130b-3p (MIRT461663)
- hsa-miR-130a-3p (MIRT461664)
- hsa-miR-19a-3p (MIRT496505)
- hsa-miR-3189-5p (MIRT496506)
- hsa-miR-4758-3p (MIRT496507)
- hsa-miR-5699-5p (MIRT496508)
- hsa-miR-203a-3p (MIRT496509)
- hsa-miR-4762-5p (MIRT496510)
- hsa-miR-365b-3p (MIRT496511)
- hsa-miR-365a-3p (MIRT496512)
- hsa-miR-539-3p (MIRT532113)
- hsa-miR-485-3p (MIRT532114)
- hsa-miR-4536-5p (MIRT532115)
- hsa-miR-664a-3p (MIRT532116)
- hsa-miR-6074 (MIRT532117)
- hsa-miR-3163 (MIRT532118)
- hsa-miR-577 (MIRT532119)
- hsa-miR-5692a (MIRT532120)
- hsa-miR-3662 (MIRT532121)
- hsa-miR-4668-5p (MIRT532122)
- hsa-miR-1253 (MIRT532123)
- hsa-miR-4311 (MIRT532124)
- hsa-miR-574-5p (MIRT574248)
- hsa-miR-6821-5p (MIRT574249)
- hsa-miR-6867-5p (MIRT574250)
- hsa-miR-223-5p (MIRT574251)
- hsa-miR-4793-5p (MIRT574252)
- hsa-miR-5196-3p (MIRT574253)
- hsa-miR-136-3p (MIRT574254)
- hsa-miR-514b-5p (MIRT650121)
- hsa-miR-513c-5p (MIRT650122)
- hsa-miR-4284 (MIRT650123)
- hsa-miR-4772-3p (MIRT650124)
- hsa-miR-4638-5p (MIRT650125)
- hsa-miR-1307-3p (MIRT650126)
- hsa-miR-1304-3p (MIRT650127)
- hsa-miR-6741-3p (MIRT650128)
- hsa-miR-6890-3p (MIRT650129)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for G6PC1
- Browse OriGene Inhibitory RNA Products For G6PC1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for G6PC1
Clone products for research
- Applied Biological Materials (abm): Clones for G6PC1 - Starting at $45 >
- * G6PC1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for G6PC1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for G6PC1
Cell Lines for research
-
Horizon Cell Lines for G6PC1
No data available for Transcription Factor Targets and HOMER Transcription for G6PC1 Gene
Localization for G6PC1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for G6PC1 Gene
- Endoplasmic reticulum membrane. Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 4 |
| mitochondrion | 3 |
| nucleus | 3 |
| endoplasmic reticulum | 3 |
| cytosol | 3 |
| extracellular | 2 |
| cytoskeleton | 2 |
| peroxisome | 2 |
| lysosome | 2 |
| golgi apparatus | 2 |
| endosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
| GO:0016020 | membrane | IEA,IBA | 21873635 |
| GO:0016021 | integral component of membrane | IEA,IDA | 10318794 |
| GO:0030176 | integral component of endoplasmic reticulum membrane | TAS | 10318794 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for G6PC1 Gene
Pathways & Interactions for G6PC1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Galactose metabolism |
Galactose metabolism
.38
|
|
| 2 | Glucose metabolism |
Glycolysis and gluconeogenesis (short map)
.58
|
|
| 3 | Metabolism |
.40
|
|
| 4 | Hexose transport |
.85
|
|
| 5 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds | ||
Pathways by source for G6PC1 Gene
6 BioSystems pathways for G6PC1 Gene
6 Reactome pathways for G6PC1 Gene
12 KEGG pathways for G6PC1 Gene
2 GeneGo (Thomson Reuters) pathways for G6PC1 Gene
- Galactose metabolism
- Glycolysis and gluconeogenesis (short map)
UniProtKB/Swiss-Prot P35575-G6PC_HUMAN
- Pathway: Carbohydrate biosynthesis; gluconeogenesis.
Interacting Proteins for G6PC1 Gene
Selected Interacting proteins:
P35575-G6PC_HUMAN
ENSP00000253801
for G6PC1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for G6PC1
SIGNOR curated interactions for G6PC1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005977 | glycogen metabolic process | IEA,TAS | 8211187 |
| GO:0005980 | glycogen catabolic process | IEA | -- |
| GO:0006094 | gluconeogenesis | TAS | -- |
| GO:0006641 | triglyceride metabolic process | IEA | -- |
| GO:0006796 | phosphate-containing compound metabolic process | IEA | -- |
Drugs & Compounds for G6PC1 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| alpha-D-Glucose |
|
492-62-6 |
|
Transcripts for G6PC1 Gene
mRNA/cDNA for G6PC1 Gene
- 2 REFSEQ mRNAs :
- 6 NCBI additional mRNA sequence :
- 4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000253801 4164 nts (view in UCSC)
- ENST00000585489 1097 nts (view in UCSC)
- ENST00000588481 604 nts (view in UCSC)
- ENST00000592383 987 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for G6PC1 - Starting at $85 >
- * G6PC1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for G6PC1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for G6PC1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for G6PC1
- Browse OriGene Inhibitory RNA Products For G6PC1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for G6PC1
Clone products for research
- Applied Biological Materials (abm): Clones for G6PC1 - Starting at $45 >
- * G6PC1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for G6PC1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for G6PC1
Relevant External Links for G6PC1 Gene
- GeneLoc Exon Structure for
- G6PC1
Expression for G6PC1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Kidney (Urinary System)
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for G6PC1
SOURCE GeneReport for Unigene cluster for G6PC1 Gene:
Hs.212293Evidence on tissue expression from TISSUES for G6PC1 Gene
- Liver(4.8)
- Kidney(3.6)
- Intestine(2.8)
- Pancreas(2.8)
- Muscle(2.7)
- Blood(2.4)
- Adrenal gland(2.4)
- Thyroid gland(2.4)
- Nervous system(2.4)
- Stomach(2.3)
- Heart(2.3)
- Skin(2.2)
- Gall bladder(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for G6PC1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- ear
- eye
- face
- head
- jaw
- mandible
- maxilla
- mouth
- neck
- skull
Thorax:
- chest wall
- clavicle
- diaphragm
- esophagus
- heart
- lung
- rib
- rib cage
- scapula
- sternum
Abdomen:
- adrenal gland
- duodenum
- intestine
- kidney
- large intestine
- liver
- pancreas
- small intestine
- stomach
Pelvis:
- fallopian tube
- ovary
- pelvis
- penis
- prostate
- rectum
- testicle
- ureter
- uterus
- vagina
- vas deferens
- vulva
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- coagulation system
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- sweat gland
- vertebrae
- white blood cell
Primer products for research
-
OriGene qPCR primer pairs for G6PC1
-
OriGene qPCR primer pairs and template standards for G6PC1
No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for G6PC1 Gene
Orthologs for G6PC1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | G6PC 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | G6PC 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | G6PC 29 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | G6pc 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | G6pc 29 |
|
||
| Chicken (Gallus gallus) |
Aves | LOC100857298 29 |
|
||
| Lizard (Anolis carolinensis) |
Reptilia | -- 30 |
|
OneToMany | |
| -- 30 |
|
OneToMany | |||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | g6pc2 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | g6pca.2 29 30 |
|
OneToMany | |
| g6pca.1 30 |
|
OneToMany | |||
| g6pcb 30 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG15400 30 |
|
OneToMany |
- Species where no ortholog for G6PC1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Oppossum (Monodelphis domestica)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Platypus (Ornithorhynchus anatinus)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for G6PC1 Gene
- ENSEMBL:
- Gene Tree for G6PC1 (if available)
- TreeFam:
- Gene Tree for G6PC1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for G6PC1: view image
- Alliance of Genome Resources:
- Additional Orthologs for G6PC1
Paralogs for G6PC1 Gene
Variants for G6PC1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for G6PC1 Gene
| SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1000600 | Uncertain Significance: Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 42,903,956(+) |
T/C NM_000151.4(G6PC1):c.256T>C (p.Trp86Arg) |
MISSENSE | |
| 1030625 | Likely Pathogenic: Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 42,900,935(+) |
A/G NM_000151.4(G6PC1):c.59A>G (p.Gln20Arg) |
MISSENSE | |
| 1040468 | Uncertain Significance: Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 42,901,069(+) |
G/T NM_000151.4(G6PC1):c.193G>T (p.Ala65Ser) |
MISSENSE | |
| 841886 | Pathogenic: Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 42,907,566(+) |
C/G NM_000151.4(G6PC1):c.384C>G (p.Tyr128Ter) |
NONSENSE,INTRON | |
| 846527 | Likely Pathogenic: Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 42,910,978(+) |
A/G NM_000151.4(G6PC1):c.626A>G (p.Tyr209Cys) |
MISSENSE_VARIANT,THREE_PRIME_UTR |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
48.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.65;
13.89% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for G6PC1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for G6PC1 Gene
Disorders for G6PC1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| glycogen storage disease ia |
|
|
| hypoglycemia |
|
|
| glycogen storage disease due to glucose-6-phosphatase deficiency |
|
|
| glycogen storage disease |
|
|
| hyperuricemia |
|
|
Search G6PC1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
G6PC_HUMAN- Glycogen storage disease 1A (GSD1A) [MIM:232200]: A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia. {ECO:0000269 PubMed:10070617, ECO:0000269 PubMed:10094563, ECO:0000269 PubMed:10447271, ECO:0000269 PubMed:10612834, ECO:0000269 PubMed:10738005, ECO:0000269 PubMed:10748407, ECO:0000269 PubMed:10874313, ECO:0000269 PubMed:10960498, ECO:0000269 PubMed:11058903, ECO:0000269 PubMed:11058910, ECO:0000269 PubMed:12373566, ECO:0000269 PubMed:15151508, ECO:0000269 PubMed:15316959, ECO:0000269 PubMed:15542400, ECO:0000269 PubMed:7573034, ECO:0000269 PubMed:7623438, ECO:0000269 PubMed:7655466, ECO:0000269 PubMed:8182131, ECO:0000269 PubMed:8733042, ECO:0000269 PubMed:9001800, ECO:0000269 PubMed:9332655, ECO:0000269 PubMed:9506659, ECO:0000269 PubMed:9700612, ECO:0000269 PubMed:9700613}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for G6PC1
No data available for Genatlas for G6PC1 Gene
Publications for G6PC1 Gene
- Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. (PMID: 12373566) Matern D … Chen YT (European journal of pediatrics 2002) 3 4 22 72
- Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus. (PMID: 7573034) Lei KJ … Pan LY (American journal of human genetics 1995) 3 4 22 72
- Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a. (PMID: 8211187) Lei KJ … Chou JY (Science (New York, N.Y.) 1993) 3 4 22 72
- Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. (PMID: 15316959) Ekstein J … Risch N (American journal of medical genetics. Part A 2004) 3 4 72
- The catalytic center of glucose-6-phosphatase. HIS176 is the nucleophile forming the phosphohistidine-enzyme intermediate during catalysis. (PMID: 12093795) Ghosh A … Chou JY (The Journal of biological chemistry 2002) 3 4 22
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