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PCK1 phosphoenolpyruvate carboxykinase 1 [ Homo sapiens (human) ]

Gene ID: 5105, updated on 26-Dec-2020

Summary

Official Symbol
PCK1provided by HGNC
Official Full Name
phosphoenolpyruvate carboxykinase 1provided by HGNC
Primary source
HGNC:HGNC:8724
See related
Ensembl:ENSG00000124253 MIM:614168
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PCKDC; PEPCK1; PEPCKC; PEPCK-C
Summary
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]
Expression
Biased expression in liver (RPKM 471.7), kidney (RPKM 448.1) and 4 other tissues See more
Orthologs
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Genomic context

See PCK1 in Genome Data Viewer
Location:
20q13.31
Exon count:
10
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (57561110..57568121)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (56136137..56141515)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene high mobility group box 1 pseudogene 1 Neighboring gene CCCTC-binding factor like Neighboring gene uncharacterized LOC105372690 Neighboring gene Z-DNA binding protein 1

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.
GeneReviews: Not available
Phosphoenolpyruvate carboxykinase deficiency, cytosolic
MedGen: CN078036 OMIM: 261680 GeneReviews: Not available
Compare labs
Preliminary evidence of genetic determinants of adiponectin response to fenofibrate in the Genetics of Lipid Lowering Drugs and Diet Network.
GeneReviews: Not available

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of phosphoenolpyruvate carboxykinase 1 (PCK1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Protein interactions

Protein Gene Interaction Pubs
integrase gag-pol Interaction of human PCK1 with HIV-1 integrase is presumed based on a reported binding interaction between yeast PCK1 and integrase PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC22652

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GDP binding IEA
Inferred from Electronic Annotation
more info
 
GTP binding IDA
Inferred from Direct Assay
more info
PubMed 
carboxylic acid binding IDA
Inferred from Direct Assay
more info
PubMed 
magnesium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
manganese ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
manganese ion binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphoenolpyruvate carboxykinase (GTP) activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphoenolpyruvate carboxykinase (GTP) activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphoenolpyruvate carboxykinase (GTP) activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
phosphoenolpyruvate carboxykinase (GTP) activity ISS
Inferred from Sequence or Structural Similarity
more info
 
phosphoenolpyruvate carboxykinase (GTP) activity TAS
Traceable Author Statement
more info
 
protein serine kinase activity (using GTP as donor) IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
aging IEA
Inferred from Electronic Annotation
more info
 
cellular response to cAMP IEA
Inferred from Electronic Annotation
more info
 
cellular response to dexamethasone stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to fructose stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to glucagon stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to glucose stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to glucose stimulus IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
cellular response to insulin stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to insulin stimulus IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to interleukin-1 IEA
Inferred from Electronic Annotation
more info
 
cellular response to potassium ion starvation IEA
Inferred from Electronic Annotation
more info
 
cellular response to retinoic acid IEA
Inferred from Electronic Annotation
more info
 
cellular response to tumor necrosis factor IEA
Inferred from Electronic Annotation
more info
 
gluconeogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
gluconeogenesis IEA
Inferred from Electronic Annotation
more info
 
gluconeogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
gluconeogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
gluconeogenesis TAS
Traceable Author Statement
more info
 
glucose homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
glucose metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
glycerol biosynthetic process from pyruvate IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glycerol biosynthetic process from pyruvate ISS
Inferred from Sequence or Structural Similarity
more info
 
hepatocyte differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxaloacetate metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-serine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of memory T cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription from RNA polymerase II promoter in response to acidic pH IEA
Inferred from Electronic Annotation
more info
 
propionate catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of lipid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
response to activity IEA
Inferred from Electronic Annotation
more info
 
response to insulin IDA
Inferred from Direct Assay
more info
PubMed 
response to interleukin-6 IEA
Inferred from Electronic Annotation
more info
 
response to lipid IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
response to methionine IEA
Inferred from Electronic Annotation
more info
 
response to starvation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
phosphoenolpyruvate carboxykinase, cytosolic [GTP]
Names
PEP carboxykinase
phosphoenolpyruvate carboxykinase 1 (soluble)
phosphoenolpyruvate carboxykinase, cytosolic
phosphoenolpyruvate carboxylase
phosphopyruvate carboxylase
serine-protein kinase PCK1
NP_002582.3
XP_024307656.1

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.

Genomic

  1. NG_008205.1 RefSeqGene

    Range
    5030..12041
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002591.4NP_002582.3  phosphoenolpyruvate carboxykinase, cytosolic [GTP]

    See identical proteins and their annotated locations for NP_002582.3

    Status: REVIEWED

    Source sequence(s)
    AL035541, AW007566, BC023978, BJ993061, BM758256, DB187814
    Consensus CDS
    CCDS13460.1
    UniProtKB/Swiss-Prot
    P35558
    Related
    ENSP00000319814.4, ENST00000319441.6
    Conserved Domains (1) summary
    cd00819
    Location:27615
    PEPCK_GTP; Phosphoenolpyruvate carboxykinase (PEPCK), a critical gluconeogenic enzyme, catalyzes the first committed step in the diversion of tricarboxylic acid cycle intermediates toward gluconeogenesis. It catalyzes the reversible decarboxylation and ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    57561110..57568121
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451888.1XP_024307656.1  phosphoenolpyruvate carboxykinase, cytosolic [GTP] isoform X1

    Conserved Domains (1) summary
    cd00819
    Location:4483
    PEPCK_GTP; Phosphoenolpyruvate carboxykinase (PEPCK), a critical gluconeogenic enzyme, catalyzes the first committed step in the diversion of tricarboxylic acid cycle intermediates toward gluconeogenesis. It catalyzes the reversible decarboxylation and ...
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