Aliases for PCK1 Gene
Aliases for PCK1 Gene
External Ids for PCK1 Gene
- HGNC: 8724
- Entrez Gene: 5105
- Ensembl: ENSG00000124253
- OMIM: 614168
- UniProtKB: P35558
Previous GeneCards Identifiers for PCK1 Gene
- GC20P055864
- GC20P056774
- GC20P056821
- GC20P055569
- GC20P056136
- GC20P052917
Summaries for PCK1 Gene
-
This gene is a main control point for the regulation of gluconeogenesis. The cytosolic enzyme encoded by this gene, along with GTP, catalyzes the formation of phosphoenolpyruvate from oxaloacetate, with the release of carbon dioxide and GDP. The expression of this gene can be regulated by insulin, glucocorticoids, glucagon, cAMP, and diet. Defects in this gene are a cause of cytosolic phosphoenolpyruvate carboxykinase deficiency. A mitochondrial isozyme of the encoded protein also has been characterized. [provided by RefSeq, Jul 2008]
GeneCards Summary for PCK1 Gene
PCK1 (Phosphoenolpyruvate Carboxykinase 1) is a Protein Coding gene. Diseases associated with PCK1 include Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic and Pepck 1 Deficiency. Among its related pathways are Adipogenesis and AMP-activated Protein Kinase (AMPK) Signaling. Gene Ontology (GO) annotations related to this gene include GTP binding and GDP binding. An important paralog of this gene is PCK2.
UniProtKB/Swiss-Prot for PCK1 Gene
-
Catalyzes the conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle.
Additional gene information for PCK1 Gene
- Monarch Initiative
- Search for PCK1 at DataMed
- Search for PCK1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCK1 Gene
Genomics for PCK1 Gene
GeneHancer (GH) Regulatory Elements for PCK1 Gene
Promoters and enhancers for PCK1 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 PCK1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the PCK1 gene promoter:
-
- Hand1
- E47
- deltaCREB
- CREB
- NF-kappaB
- NF-kappaB1
- RelA
- Pax-4a
- IRF-1
- Olf-1
Regulatory Element Products
Genomic Locations for PCK1 Gene
Genomic Locations for PCK1 Gene
- chr20:57,561,080-57,568,112
- (GRCh38/hg38)
- Size:
- 7,033 bases
- Orientation:
- Plus strand
- chr20:56,136,136-56,141,513
- (GRCh37/hg19)
- Size:
- 5,378 bases
- Orientation:
- Plus strand
Genomic View for PCK1 Gene
Genes around PCK1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 20q13.31 by Entrez Gene
- 20q13.31 by HGNC
- 20q13.31 by Ensembl
PCK1 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 PCK1 Gene
Proteins for PCK1 Gene
-
Protein details for PCK1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P35558-PCKGC_HUMAN
- Recommended name:
- Phosphoenolpyruvate carboxykinase, cytosolic [GTP]
- Protein Accession:
- P35558
- A8K437
- B4DT64
- Q8TCA3
- Q9UJD2
Protein attributes for PCK1 Gene
- Size:
- 622 amino acids
- Molecular mass:
- 69195 Da
- Cofactor:
- Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
- Quaternary structure:
-
- Monomer.
- Miscellaneous:
-
- In eukaryotes there are two isozymes: a cytoplasmic one and a mitochondrial one.
Three dimensional structures from OCA and Proteopedia for PCK1 Gene
Protein Expression for PCK1 Gene
Post-translational modifications for PCK1 Gene
- Lysine acetylation by p300/EP300 is increased on high glucose conditions and promotes ubiquitination by UBR5, acetylation is enhanced in the presence of BAG6. Deacetylated by SIRT2.
- Ubiquitination by UBR5 leads to proteasomal degradation.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for PCK1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for PCK1 (PCK1)
-
Custom Antibody ServicesOriGene Antibodies for PCK1
- Novus Biologicals Antibodies for PCK1
-
Abcam antibodies for PCK1
- Invitrogen Antibodies for PCK1 (AFLGC-PCK1)
- antibodies-online: Search results for 182 available PCK1 Antibodies ranked by validation data
- Compare Top PCK1 Antibodies
-
Recommended
- 119 WB Antibodies (anti-human)
- 24 IF (p) Antibodies (anti-human)
- 2 IHC (p) Antibodies (anti-human)
- 2 IP Antibodies (anti-human)
- 43 WB Antibodies (anti-rat)
- 24 IF (p) Antibodies (anti-rat)
- 2 IHC (p) Antibodies (anti-rat)
- 2 IP Antibodies (anti-rat)
- 59 WB Antibodies (anti-mouse)
- 24 IF (p) Antibodies (anti-mouse)
- 2 IHC (p) Antibodies (anti-mouse)
- GeneTex PCK1 Antibody for PCK1
-
Boster Bio Antibodies for PCK1
-
Santa Cruz Biotechnology (SCBT) Antibodies for PCK1
Protein Products
-
OriGene Purified Proteins for PCK1
- Search Origene for MassSpec and Protein Over-expression Lysates for PCK1
- Origene Custom Protein Services for PCK1
- ProSpec Recombinant Proteins for PCK1
- Search GeneTex for Proteins for PCK1
-
Abcam proteins for PCK1
Assay Products
No data available for DME Specific Peptides for PCK1 Gene
Domains & Families for PCK1 Gene
Gene Families for PCK1 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for PCK1 Gene
Suggested Antigen Peptide Sequences for PCK1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P35558- Family:
-
- Belongs to the phosphoenolpyruvate carboxykinase [GTP] family.
Function for PCK1 Gene
Molecular function for PCK1 Gene
- UniProtKB/Swiss-Prot Function:
- Catalyzes the conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle.
- UniProtKB/Swiss-Prot CatalyticActivity:
- GTP + oxaloacetate = GDP + phosphoenolpyruvate + CO(2).
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Enzyme activity is enhanced by acetylation.
- UniProtKB/Swiss-Prot Induction:
- Regulated by cAMP and insulin.
- GENATLAS Biochemistry:
- phosphoenolpyruvate carboxykinase 1,cytoplasmic,gluconeogenesis,energy pathway,mainly expressed in liver,kidney,adipocytes
Enzyme Numbers (IUBMB) for PCK1 Gene
Phenotypes From GWAS Catalog for PCK1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000287 | magnesium ion binding | IDA | 11851336 |
| GO:0004611 | phosphoenolpyruvate carboxykinase activity | IEA | -- |
| GO:0004613 | phosphoenolpyruvate carboxykinase (GTP) activity | TAS | -- |
| GO:0005525 | GTP binding | IDA | 11851336 |
| GO:0016829 | lyase activity | IEA | -- |
Phenotypes for PCK1 Gene
- MGI mutant phenotypes for PCK1:
- inferred from 6 alleles
- GenomeRNAi human phenotypes for PCK1:
-
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Decreased telomerase activity
- Decreased HIV-LTR-beta-galactosidase protein expression
- Decreased viability
- Increased cell death HMECs cells
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Reduced mammosphere formation
- Decreased ionizing radiation sensitivity
- Downregulation of Wnt pathway after Wnt3A stimulation
- Decreased shRNA abundance
- Decreased viability with paclitaxel
- no effect
- Decreased human cytomegalovirus (HCMV) strain AD169 replication
- Increased vaccinia virus (VACV) infection
- Decreased NF-kappaB reporter expression
- Decreased IL-8 secretion
- Increased transferrin (TF) endocytosis
Animal Models for PCK1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for PCK1
-
CRISPR Products
-
OriGene CRISPR knockouts for PCK1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PCK1
- genomics-online: gRNA clones - Search results for 96 available PCK1 gene related products
- Overview of 96 available PCK1 gene related products
- Applied Biological Materials CRISPR for PCK1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PCK1
- GenScript: Design CRISPR guide RNA sequences for PCK1
miRNA for PCK1 Gene
- miRTarBase miRNAs that target PCK1
-
- hsa-mir-33b-5p (MIRT054920)
- hsa-mir-1277-5p (MIRT607460)
- hsa-mir-190a-3p (MIRT607461)
- hsa-mir-5011-5p (MIRT607462)
- hsa-mir-4789-3p (MIRT607463)
- hsa-mir-8485 (MIRT607464)
- hsa-mir-4482-3p (MIRT620245)
- hsa-mir-7159-3p (MIRT620246)
- hsa-mir-627-3p (MIRT620247)
- hsa-mir-330-3p (MIRT620248)
- hsa-mir-7151-5p (MIRT620249)
- hsa-mir-3163 (MIRT620250)
- hsa-mir-5582-3p (MIRT620251)
- hsa-mir-548f-3p (MIRT620252)
- hsa-mir-548e-3p (MIRT620253)
- hsa-mir-548az-3p (MIRT620254)
- hsa-mir-548ar-3p (MIRT620255)
- hsa-mir-548a-3p (MIRT620256)
- hsa-mir-8064 (MIRT626357)
- hsa-mir-1185-2-3p (MIRT639564)
- hsa-mir-1185-1-3p (MIRT639565)
- hsa-let-7f-2-3p (MIRT639566)
- hsa-mir-548t-3p (MIRT647682)
- hsa-mir-548ap-3p (MIRT647683)
- hsa-mir-548aa (MIRT647684)
- hsa-mir-26a-1-3p (MIRT733095)
- bta-mir-26a (MIRT735254)
- hsa-mir-129-5p (MIRT790091)
- hsa-mir-1297 (MIRT790094)
- hsa-mir-26a-5p (MIRT790203)
- hsa-mir-26b-5p (MIRT790204)
- hsa-mir-3650 (MIRT790321)
- hsa-mir-4465 (MIRT790465)
- hsa-mir-5697 (MIRT790781)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PCK1
- Browse OriGene Inhibitory RNA Products For PCK1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCK1
- genomics-online: shRNA clones - Search results for 96 available PCK1 gene related products
- Overview of 96 available PCK1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for PCK1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PCK1
- Applied Biological Materials Clones for PCK1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for PCK1
No data available for Transcription Factor Targets and HOMER Transcription for PCK1 Gene
Localization for PCK1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for PCK1 Gene
- Cytoplasm.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| cytosol | 5 |
| nucleus | 3 |
| mitochondrion | 2 |
| peroxisome | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | ISS | -- |
| GO:0005739 | mitochondrion | IBA | -- |
| GO:0005829 | cytosol | IEA,TAS | -- |
| GO:0070062 | extracellular exosome | HDA | 19056867 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for PCK1 Gene
Pathways & Interactions for PCK1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Glucose metabolism |
.46
|
|
| 2 | Citrate cycle (TCA cycle) | ||
| 3 | Metabolism |
.37
|
|
| 4 | Abacavir transport and metabolism | ||
| 5 | Adipocytokine signaling pathway | ||
Pathways by source for PCK1 Gene
7 BioSystems pathways for PCK1 Gene
8 Reactome pathways for PCK1 Gene
1 PharmGKB pathway for PCK1 Gene
13 KEGG pathways for PCK1 Gene
1 GeneGo (Thomson Reuters) pathway for PCK1 Gene
1 Cell Signaling Technology pathway for PCK1 Gene
UniProtKB/Swiss-Prot P35558-PCKGC_HUMAN
- Pathway: Carbohydrate biosynthesis; gluconeogenesis.
Interacting Proteins for PCK1 Gene
GPS-Prot Interaction Network for PCK1
SIGNOR curated interactions for PCK1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006006 | glucose metabolic process | IMP,IEA | 14764811 |
| GO:0006090 | pyruvate metabolic process | IBA | -- |
| GO:0006094 | gluconeogenesis | TAS,ISS | -- |
| GO:0006107 | oxaloacetate metabolic process | IEA | -- |
| GO:0006475 | internal protein amino acid acetylation | IDA | 20167786 |
Drugs & Compounds for PCK1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Mersalyl | Approved | Pharma | Enzyme, inhibitor | 0 | ||
| Carbon dioxide | Approved, Investigational, Vet_approved | Pharma | 0 | |||
| phosphoenolpyruvate | Experimental | Pharma | Target | 0 | ||
| 1-(2-Fluorobenzyl)-3-Butyl-8-(N-Acetyl-4-Aminobenzyl)-Xanthine | Experimental | Pharma | Target | 0 | ||
| 1-Allyl-3-Butyl-8-(N-Acetyl-4-Aminobenzyl)-Xanthine | Experimental | Pharma | Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| IDP |
|
86-04-4 |
|
|||
| inosine triphosphate |
|
132-06-9 |
|
|||
| Oxalacetic acid |
|
328-42-7 |
|
Drug Products
Transcripts for PCK1 Gene
mRNA/cDNA for PCK1 Gene
- (2) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (203) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000467047 5074 bps (uc061xyq.1)
- ENST00000319441 4341 bps (uc002xyn.5)
- ENST00000475833 1037 bps (uc061xyr.1)
- ENST00000498194 783 bps (uc061xys.1)
- ENST00000470051 409 bps (uc061xyt.1)
Unigene Clusters for PCK1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for PCK1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PCK1
- genomics-online: gRNA clones - Search results for 96 available PCK1 gene related products
- Overview of 96 available PCK1 gene related products
- Applied Biological Materials CRISPR for PCK1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PCK1
- GenScript: Design CRISPR guide RNA sequences for PCK1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PCK1
- Browse OriGene Inhibitory RNA Products For PCK1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCK1
- genomics-online: shRNA clones - Search results for 96 available PCK1 gene related products
- Overview of 96 available PCK1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for PCK1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PCK1
- Applied Biological Materials Clones for PCK1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | · | 10c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||||||
| SP5: |
Expression for PCK1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Adipose (Muscoskeletal System)
-
Liver (Hepatobiliary System)
- Periportal Hepatocytes Liver Lobule
-
Amnion (Extraembryonic Tissues)
- Amniotic Epithelial Cells Amniotic Membrane
-
Epithelial Cells
- Amniotic Epithelial Cells Amniotic Membrane
- Intestine (Gastrointestinal Tract)
- Pancreas (Endocrine System)
-
Colon (Gastrointestinal Tract)
-
Kidney (Urinary System)
-
Stomach (Gastrointestinal Tract)
mRNA differential expression in normal tissues according to GTEx for PCK1 Gene
This gene is overexpressed in Liver (x29.5) and Kidney - Cortex (x12.5).
This gene is overexpressed in Kidney (27.4), Gallbladder (24.9), and Liver (8.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PCK1 Gene
NURSA nuclear receptor signaling pathways regulating expression of PCK1 Gene:
PCK1SOURCE GeneReport for Unigene cluster for PCK1 Gene:
Hs.1872mRNA Expression by UniProt/SwissProt for PCK1 Gene:
P35558-PCKGC_HUMAN
Tissue specificity:
Major sites of expression are liver, kidney and adipocytes.
Evidence on tissue expression from TISSUES for PCK1 Gene
- Kidney(4.8)
- Liver(4.8)
- Intestine(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for PCK1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- integumentary
- nervous
- respiratory
- skeletal muscle
- urinary
Regions:
Head and neck:
- brain
- cranial nerve
- ear
- eye
- head
Thorax:
- heart
- lung
Abdomen:
- adrenal gland
- kidney
- liver
General:
- peripheral nerve
- peripheral nervous system
- skin
- sweat gland
Primer Products
-
OriGene qPCR primer pairs for PCK1
-
OriGene qPCR primer pairs and template standards for PCK1
- genomics-online: primer clones - Search results for 96 available PCK1 gene related products
- Overview of 96 available PCK1 gene related products
Gene Expression Assay Products
Orthologs for PCK1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PCK1 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | PEPCK 34 |
|
OneToOne | |
| PCK1 33 |
|
||||
| oppossum (Monodelphis domestica) |
Mammalia | PCK1 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Pck1 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Pck1 33 |
|
||
| cow (Bos Taurus) |
Mammalia | PCK1 34 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | PCK1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | PEPCK 34 |
|
OneToOne | |
| PCK1 33 |
|
||||
| lizard (Anolis carolinensis) |
Reptilia | PCK1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pck1 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68864 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | pck1 34 33 |
|
OneToOne | |
| Dr.26132 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | CG10924 34 35 33 |
|
ManyToMany | |
| Pepck 34 35 |
|
ManyToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | R11A5.4 35 |
|
|
|
| pck-1 34 |
|
ManyToMany | |||
| pck-2 34 |
|
ManyToMany | |||
| pck-3 34 |
|
ManyToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.10673 34 |
|
OneToMany | |
| Cin.5335 33 |
|
||||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.5335 33 |
|
- Species where no ortholog for PCK1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- 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)
Evolution for PCK1 Gene
- ENSEMBL:
- Gene Tree for PCK1 (if available)
- TreeFam:
- Gene Tree for PCK1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PCK1: view image
Paralogs for PCK1 Gene
Variants for PCK1 Gene
| SNP ID | Clin | Chr 20 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1005929403 | uncertain-significance, Phosphoenolpyruvate carboxykinase (GTP) deficiency | 57,566,169(+) | G/A | 3_prime_UTR_variant | |
| rs1041100224 | uncertain-significance, Phosphoenolpyruvate carboxykinase (GTP) deficiency | 57,566,053(+) | G/T | 3_prime_UTR_variant | |
| rs1042521 | benign, Phosphoenolpyruvate carboxykinase (GTP) deficiency | 57,561,480(+) | A/C/G | 5_prime_UTR_variant, coding_sequence_variant, synonymous_variant | |
| rs1042523 | benign, Phosphoenolpyruvate carboxykinase (GTP) deficiency | 57,562,751(+) | A/G | coding_sequence_variant, synonymous_variant | |
| rs1042531 | benign, Phosphoenolpyruvate carboxykinase (GTP) deficiency | 57,565,924(+) | T/G | 3_prime_UTR_variant |
Residual Variation Intolerance Score:
57.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.09;
69.04% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PCK1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PCK1 Gene
Disorders for PCK1 Gene
(5) MalaCards diseases for PCK1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| phosphoenolpyruvate carboxykinase deficiency, cytosolic |
|
|
| pepck 1 deficiency |
|
|
| hypotrichosis 8 |
|
|
| maturity-onset diabetes of the young |
|
|
| diabetes mellitus, noninsulin-dependent |
|
Search PCK1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
PCKGC_HUMAN- Phosphoenolpyruvate carboxykinase deficiency, cytosolic (PCKDC) [MIM:261680]: An autosomal recessive metabolic disorder characterized by impaired gluconeogenesis, hypoglycemia, hypotonia, hepatomegaly, hepatic dysfunction, failure to thrive, lactic acidosis, and elevated tricarboxylic acid intermediates, particularly fumarate, in urine. {ECO:0000269 PubMed:24863970, ECO:0000269 PubMed:26971250, ECO:0000269 PubMed:28216384}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for PCK1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for PCK1 Gene
Publications for PCK1 Gene
- A Leu184Val polymorphism in PCK1 gene is associated with type 2 diabetes in Eastern Chinese population with BMI<23 kg/m2. (PMID: 19070910) Dong Y … Su Q (Diabetes research and clinical practice 2009) 3 22 44 58
- The promoter polymorphism -232C/G of the PCK1 gene is associated with type 2 diabetes in a UK-resident South Asian population. (PMID: 19725958) Rees SD … Kelly MA (BMC medical genetics 2009) 3 22 44 58
- The estrogen hypothesis of schizophrenia implicates glucose metabolism: association study in three independent samples. (PMID: 18460190) Olsen L … Werge T (BMC medical genetics 2008) 3 22 44 58
- Association of the promoter polymorphism -232C/G of the phosphoenolpyruvate carboxykinase gene (PCK1) with Type 2 diabetes mellitus. (PMID: 16620271) Gouni-Berthold I … Krone W (Diabetic medicine : a journal of the British Diabetic Association 2006) 3 22 44 58
- Large-scale study of the -232C > G polymorphism of PCK1 in Type 2 diabetes. (PMID: 16978381) Wegner L … Pedersen O (Diabetic medicine : a journal of the British Diabetic Association 2006) 3 22 44 58
Products for PCK1 Gene
- R&D Systems Antibodies for PCK1 (PCK1)
- Browse R&D Systems for Human Recombinant Proteins
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- Custom Antibody ServicesOriGene Antibodies for PCK1
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for PCK1
- Search Origene for MassSpec and Protein Over-expression Lysates for PCK1
- Origene Custom Protein Services for PCK1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PCK1
- Browse OriGene Inhibitory RNA Products For PCK1
- OriGene qPCR primer pairs for PCK1
- OriGene qPCR primer pairs and template standards for PCK1
- OriGene CRISPR knockouts for PCK1
- OriGene ORF clones in human for PCK1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For PCK1
- GenScript: Next-day shipping of latest version cDNA ORF clones for PCK1 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for PCK1
- GenScript Custom Assay Services for PCK1
- GenScript Custom overexpressing Cell Line Services for PCK1
- GenScript: Design CRISPR guide RNA sequences for PCK1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for PCK1
- Sino Biological Human cDNA Clone for PCK1
- Browse Sino Biological Recombinant Proteins
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- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals Antibodies for PCK1
- Novus Biologicals lysates and proteins for PCK1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
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- Abcam antibodies for PCK1
- Abcam proteins for PCK1
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- ProSpec Recombinant Proteins for PCK1
- Invitrogen Antibodies for PCK1 (AFLGC-PCK1)
- Cyagen custom Knockout/knockin (KOKI) mouse models for PCK1
- antibodies-online: Search results for 182 available PCK1 Antibodies ranked by validation data
- Compare Top PCK1 Antibodies
- Recommended
- 119 WB Antibodies (anti-human)
- 24 IF (p) Antibodies (anti-human)
- 2 IHC (p) Antibodies (anti-human)
- 2 IP Antibodies (anti-human)
- 43 WB Antibodies (anti-rat)
- 24 IF (p) Antibodies (anti-rat)
- 2 IHC (p) Antibodies (anti-rat)
- 2 IP Antibodies (anti-rat)
- 59 WB Antibodies (anti-mouse)
- 24 IF (p) Antibodies (anti-mouse)
- 2 IHC (p) Antibodies (anti-mouse)
- antibodies-online: Search results for 26 available PCK1 Elisa Kits ranked by validation data
- Compare Top PCK1 Elisa Kits
- antibodies-online: Search results for 11 available PCK1 Proteins ranked by validation data
- Compare Top PCK1 Proteins
- GeneTex PCK1 Antibody for PCK1
- Search GeneTex for Proteins for PCK1
- Santa Cruz Biotechnology (SCBT) Antibodies for PCK1
- Search Santa Cruz Biotechnology (SCBT) for PCK1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for PCK1
- Horizon Cell Lines for PCK1
- genomics-online: cdna clones - Search results for 96 available PCK1 gene related products
- Overview of 96 available PCK1 gene related products
- orf clones - Search results for 96 available PCK1 gene related products
- Overview of 96 available PCK1 gene related products
- genomics-online: gRNA clones - Search results for 96 available PCK1 gene related products
- Overview of 96 available PCK1 gene related products
- genomics-online: primer clones - Search results for 96 available PCK1 gene related products
- Overview of 96 available PCK1 gene related products
- genomics-online: shRNA clones - Search results for 96 available PCK1 gene related products
- Overview of 96 available PCK1 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PCK1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PCK1
- GeneCopoeia miRNA 3'UTR Target clone products for PCK1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCK1
- Boster Bio Antibodies for PCK1
- Browse Boster Bio ELISA Kits
Sources for PCK1 Gene
- (1) GeneCards
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- (8) Gene Wiki
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- (30) GeneAnnot
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- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
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- (39) Pseudogene
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- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
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- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
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- (79) LifeMap
- (80) miRTarBase
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