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GCKR glucokinase regulator [ Homo sapiens (human) ]

Gene ID: 2646, updated on 7-Dec-2018

Summary

Official Symbol
GCKRprovided by HGNC
Official Full Name
glucokinase regulatorprovided by HGNC
Primary source
HGNC:HGNC:4196
See related
Ensembl:ENSG00000084734 MIM:600842
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
GKRP; FGQTL5
Summary
This gene encodes a protein belonging to the GCKR subfamily of the SIS (Sugar ISomerase) family of proteins. The gene product is a regulatory protein that inhibits glucokinase in liver and pancreatic islet cells by binding non-covalently to form an inactive complex with the enzyme. This gene is considered a susceptibility gene candidate for a form of maturity-onset diabetes of the young (MODY). [provided by RefSeq, Jul 2008]
Expression
Biased expression in liver (RPKM 19.0), stomach (RPKM 3.8) and 3 other tissues See more
Orthologs

Genomic context

See GCKR in Genome Data Viewer
Location:
2p23.3
Exon count:
20
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (27496839..27523689)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27719470..27746556)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene intraflagellar transport 172 Neighboring gene RNA, U6 small nuclear 986, pseudogene Neighboring gene fibronectin type III domain containing 4 Neighboring gene chromosome 2 open reading frame 16 pseudogene Neighboring gene chromosome 2 open reading frame 16

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Fasting plasma glucose level quantitative trait locus 5
MedGen: C3150714 OMIM: 613463 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.
NHGRI GWA Catalog
A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
NHGRI GWA Catalog
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
NHGRI GWA Catalog
A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.
NHGRI GWA Catalog
An atlas of genetic influences on human blood metabolites.
NHGRI GWA Catalog
Association of common variants in TNFRSF13B, TNFSF13, and ANXA3 with serum levels of non-albumin protein and immunoglobulin isotypes in Japanese.
NHGRI GWA Catalog
Biological, clinical and population relevance of 95 loci for blood lipids.
NHGRI GWA Catalog
Common genetic variation near MC4R is associated with waist circumference and insulin resistance.
NHGRI GWA Catalog
Common variants at 30 loci contribute to polygenic dyslipidemia.
NHGRI GWA Catalog
Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
NHGRI GWA Catalog
Discovery and fine mapping of serum protein loci through transethnic meta-analysis.
NHGRI GWA Catalog
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.
NHGRI GWA Catalog
Fasting glucose GWAS candidate region analysis across ethnic groups in the Multiethnic Study of Atherosclerosis (MESA).
NHGRI GWA Catalog
Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
NHGRI GWA Catalog
Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels.
NHGRI GWA Catalog
Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.
NHGRI GWA Catalog
Genetic variants associated with breast size also influence breast cancer risk.
NHGRI GWA Catalog
Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
NHGRI GWA Catalog
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
NHGRI GWA Catalog
Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge.
NHGRI GWA Catalog
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
NHGRI GWA Catalog
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
NHGRI GWA Catalog
Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.
NHGRI GWA Catalog
Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.
NHGRI GWA Catalog
Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.
NHGRI GWA Catalog
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
NHGRI GWA Catalog
Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
NHGRI GWA Catalog
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
NHGRI GWA Catalog
Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
NHGRI GWA Catalog
Genome-wide association study of hematological and biochemical traits in a Japanese population.
NHGRI GWA Catalog
Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.
NHGRI GWA Catalog
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
NHGRI GWA Catalog
Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.
NHGRI GWA Catalog
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
NHGRI GWA Catalog
Human metabolic individuality in biomedical and pharmaceutical research.
NHGRI GWA Catalog
Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies.
NHGRI GWA Catalog
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
NHGRI GWA Catalog
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
NHGRI GWA Catalog
Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study.
NHGRI GWA Catalog
Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.
NHGRI GWA Catalog
Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.
NHGRI GWA Catalog
New gene functions in megakaryopoiesis and platelet formation.
NHGRI GWA Catalog
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
NHGRI GWA Catalog
New loci associated with kidney function and chronic kidney disease.
NHGRI GWA Catalog
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
NHGRI GWA Catalog
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
NHGRI GWA Catalog
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
NHGRI GWA Catalog

Pathways from BioSystems

  • Defective TRP may confer susceptibility towards thyroid papillary carcinoma (TPC), organism-specific biosystem (from REACTOME)
    Defective TRP may confer susceptibility towards thyroid papillary carcinoma (TPC), organism-specific biosystemThe nuclear pore complex (NPC) trafficks cargo across the nuclear membrane. Nucleoprotein TRP functions as a scaffolding element in the nuclear phase of the NPC essential for normal nucleocytoplasmic...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Disorders of transmembrane transporters, organism-specific biosystem (from REACTOME)
    Disorders of transmembrane transporters, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP hydrolysis-coupled pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to ...
  • Glucose transport, organism-specific biosystem (from REACTOME)
    Glucose transport, organism-specific biosystemCells take up glucose by facilitated diffusion, via glucose transporters (GLUTs) associated with the plasma membrane, a reversible reaction (Joost and Thorens 2001). Four tissue-specific GLUT isoform...
  • Hexose transport, organism-specific biosystem (from REACTOME)
    Hexose transport, organism-specific biosystemHexoses, notably fructose, glucose, and galactose, generated in the lumen of the small intestine by breakdown of dietary carbohydrate are taken up by enterocytes lining the microvilli of the small in...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
  • Regulation of Glucokinase by Glucokinase Regulatory Protein, organism-specific biosystem (from REACTOME)
    Regulation of Glucokinase by Glucokinase Regulatory Protein, organism-specific biosystemGlucokinase (GCK1) is negatively regulated by glucokinase regulatory protein (GKRP), which reversibly binds the enzyme to form an inactive complex. Binding is stimulated by fructose 6-phosphate and s...
  • SLC transporter disorders, organism-specific biosystem (from REACTOME)
    SLC transporter disorders, organism-specific biosystemThe solute-carrier gene (SLC) superfamily encodes membrane-bound transporters comprising 55 gene families with at least 362 putatively functional protein-coding genes. The gene products include passi...
  • SLC-mediated transmembrane transport, organism-specific biosystem (from REACTOME)
    SLC-mediated transmembrane transport, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP-powered pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to power the m...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
  • Wnt Signaling Pathway Netpath, organism-specific biosystem (from WikiPathways)
    Wnt Signaling Pathway Netpath, organism-specific biosystemWNT signal, through the canonical pathway, controls cell fate determination and through the non-canonical pathway controls cell movement and tissue polarity. The name "wnt" is a fusion of two terms, ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carbohydrate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enzyme binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enzyme inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fructose-6-phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fructose-6-phosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
carbohydrate derivative metabolic process IEA
Inferred from Electronic Annotation
more info
 
carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
 
glucose homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of glucokinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of glucokinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein import into nucleus, translocation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of glycolytic process TAS
Traceable Author Statement
more info
 
response to fructose IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to fructose IDA
Inferred from Direct Assay
more info
PubMed 
triglyceride homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
urate metabolic process IMP
Inferred from Mutant Phenotype
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 TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
glucokinase regulatory protein
Names
glucokinase (hexokinase 4) regulator
hexokinase 4 regulator

NCBI Reference Sequences (RefSeq)

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_028024.1 RefSeqGene

    Range
    5001..31846
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001486.4NP_001477.2  glucokinase regulatory protein

    See identical proteins and their annotated locations for NP_001477.2

    Status: REVIEWED

    Source sequence(s)
    BC130483, CD368544, DA011063, Z48475
    Consensus CDS
    CCDS1757.1
    UniProtKB/Swiss-Prot
    Q14397
    UniProtKB/TrEMBL
    A0A0C4DFN2
    Related
    ENSP00000264717.2, ENST00000264717.6
    Conserved Domains (2) summary
    TIGR00274
    Location:293543
    TIGR00274; N-acetylmuramic acid 6-phosphate etherase
    cl00389
    Location:38273
    SIS; SIS domain. SIS (Sugar ISomerase) domains are found in many phosphosugar isomerases and phosphosugar binding proteins. SIS domains are also found in proteins that regulate the expression of genes involved in synthesis of phosphosugars.

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    27496839..27523689
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532763.1XP_011531065.1  glucokinase regulatory protein isoform X2

    Conserved Domains (1) summary
    cl00389
    Location:38273
    SIS; SIS domain. SIS (Sugar ISomerase) domains are found in many phosphosugar isomerases and phosphosugar binding proteins. SIS domains are also found in proteins that regulate the expression of genes involved in synthesis of phosphosugars.
  2. XM_017003796.1XP_016859285.1  glucokinase regulatory protein isoform X1

    Conserved Domains (2) summary
    TIGR00274
    Location:103353
    TIGR00274; N-acetylmuramic acid 6-phosphate etherase
    cl00389
    Location:292351
    SIS; SIS domain. SIS (Sugar ISomerase) domains are found in many phosphosugar isomerases and phosphosugar binding proteins. SIS domains are also found in proteins that regulate the expression of genes involved in synthesis of phosphosugars.
  3. XM_017003797.1XP_016859286.1  glucokinase regulatory protein isoform X1

    Conserved Domains (2) summary
    TIGR00274
    Location:103353
    TIGR00274; N-acetylmuramic acid 6-phosphate etherase
    cl00389
    Location:292351
    SIS; SIS domain. SIS (Sugar ISomerase) domains are found in many phosphosugar isomerases and phosphosugar binding proteins. SIS domains are also found in proteins that regulate the expression of genes involved in synthesis of phosphosugars.

RNA

  1. XR_001738699.1 RNA Sequence

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