Genomics. 1993 Jun;16(3):698-706.

Phosphoenolpyruvate carboxykinase (GTP): characterization of the human PCK1 gene and localization distal to MODY on chromosome 20.

Ting CN, Burgess DL, Chamberlain JS, Keith TP, Falls K, Meisler MH.

Source

Department of Human Genetics, University of Michigan, Ann Arbor 48109-0618.

Abstract

The human PCK1 gene encoding phosphoenolpyruvate carboxykinase (GTP) (PEPCK) was isolated and sequenced. There is 91% amino acid sequence identity (567/622 residues) between the human and the rat proteins, with conservation of intron/exon borders. A polymorphic dinucleotide microsatellite with the structure (CA)16(TA)5(CA) was identified in the 3' untranslated region of the cloned human PCK1 gene. This highly informative genetic marker has an estimated PIC value of 0.79 and heterozygosity of 0.81. Analysis of the RW pedigree demonstrated recombination between PCK1 and the MODY gene on chromosome 20. Multipoint linkage analysis of the reference pedigrees of the Centre d'Etude du Polymorphisme Humain localized PCK1 on the genetic map of chromosome 20 at a position distal to markers that are closely linked to MODY. PCK1 is part of a conserved linkage group on mouse Chromosome 2 with identical gene order but expanded length in the human genome.

PMID:: 8325643; [PubMed - indexed for MEDLINE]

LinkOut - more resources

Full Text Sources

Miscellaneous

Supplemental Content

Save items

Related citations in PubMed

cDNA sequence and localization of polymorphic human cytosolic phosphoenolpyruvate carboxykinase gene (PCK1) to chromosome 20, band q13.31: PCK1 is not tightly linked to maturity-onset diabetes of the young. [Hum Mol Genet. 1993]
cDNA sequence and localization of polymorphic human cytosolic phosphoenolpyruvate carboxykinase gene (PCK1) to chromosome 20, band q13.31: PCK1 is not tightly linked to maturity-onset diabetes of the young.
Stoffel M, Xiang KS, Espinosa R 3rd, Cox NJ, Le Beau MM, Bell GI. Hum Mol Genet. 1993 Jan; 2(1):1-4.
A microsatellite polymorphism associated with the PLC1 (phospholipase C) locus: identification, mapping, and linkage to the MODY locus on chromosome 20. [Genomics. 1992]
A microsatellite polymorphism associated with the PLC1 (phospholipase C) locus: identification, mapping, and linkage to the MODY locus on chromosome 20.
Rothschild CB, Akots G, Fajans SS, Bowden DW. Genomics. 1992 Jul; 13(3):560-4.
Human PCK1 encoding phosphoenolpyruvate carboxykinase is located on chromosome 20q13.2. [Genomics. 1993]
Human PCK1 encoding phosphoenolpyruvate carboxykinase is located on chromosome 20q13.2.
Yu H, Thun R, Chandrasekharappa S, Trent JM, Zhang J, Meisler MH. Genomics. 1993 Jan; 15(1):219-21.
Review The use of linkage analysis and the Centre d'Etude Polymorphisme Humain (CEPH) panel of DNA in the study of the arginine vasopressin, oxytocin and prodynorphin gene loci. [Prog Brain Res. 1992]
Review The use of linkage analysis and the Centre d'Etude Polymorphisme Humain (CEPH) panel of DNA in the study of the arginine vasopressin, oxytocin and prodynorphin gene loci.
Summar ML. Prog Brain Res. 1992; 93:309-17.
Review Genetic mapping of facioscapulohumeral muscular dystrophy. [Mol Cell Biol Hum Dis Ser. 1993]
Review Genetic mapping of facioscapulohumeral muscular dystrophy.
Wijmenga C, Hofker MH, Padberg GW, Frants RR. Mol Cell Biol Hum Dis Ser. 1993; 3:111-38.

See reviews... See all...

Cited by 4 PubMed Central articles

Regulation by glucagon (cAMP) and insulin of the promoter of the human phosphoenolpyruvate carboxykinase gene (cytosolic) in cultured rat hepatocytes and in human hepatoblastoma cells. [Biochem J. 2000]
Regulation by glucagon (cAMP) and insulin of the promoter of the human phosphoenolpyruvate carboxykinase gene (cytosolic) in cultured rat hepatocytes and in human hepatoblastoma cells.
Rucktäschel AK, Granner DK, Christ B. Biochem J. 2000 Nov 15; 352 Pt 1:211-7.
Identification of an oxygen-responsive element in the 5'-flanking sequence of the rat cytosolic phosphoenolpyruvate carboxykinase-1 gene, modulating its glucagon-dependent activation. [Biochem J. 1999]
Identification of an oxygen-responsive element in the 5'-flanking sequence of the rat cytosolic phosphoenolpyruvate carboxykinase-1 gene, modulating its glucagon-dependent activation.
Bratke J, Kietzmann T, Jungermann K. Biochem J. 1999 May 1; 339 ( Pt 3):563-9.
Human mitochondrial phosphoenolpyruvate carboxykinase 2 gene. Structure, chromosomal localization and tissue-specific expression. [Biochem J. 1998]
Human mitochondrial phosphoenolpyruvate carboxykinase 2 gene. Structure, chromosomal localization and tissue-specific expression.
Modaressi S, Brechtel K, Christ B, Jungermann K. Biochem J. 1998 Jul 15; 333 ( Pt 2):359-66.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
BioSample
BioSample links
Compound (MeSH Keyword)
PubChem chemical compound records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Gene
Gene records that cite the current articles. Citations in Gene are added manually by NCBI or imported from outside public resources.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
HomoloGene
HomoloGene clusters of homologous genes and sequences that cite the current articles. These are references on the Gene and sequence records in the HomoloGene entry.
MedGen (OMIM)
Related information in MedGen (OMIM)
Nucleotide
Primary database (GenBank) nucleotide records reported in the current articles as well as Reference Sequences (RefSeqs) that include the articles as references.
Nucleotide (RefSeq)
NCBI nucleotide Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (RefSeq)
NCBI protein Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Taxonomy via GenBank
Taxonomy records associated with the current articles through taxonomic information on related molecular database records (Nucleotide, Protein, Gene, SNP, Structure).
UniGene
UniGene clusters of expressed sequences that are associated with the current articles through references on the clustered sequence records and related Gene records.
Protein
Protein translation features of primary database (GenBank) nucleotide records reported in the current articles as well as Reference Sequences (RefSeqs) that include the articles as references.
GEO Profiles
Gene Expression Omnibus (GEO) Profiles of molecular abundance data. The current articles are references on the Gene record associated with the GEO profile.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Phosphoenolpyruvate carboxykinase (GTP): characterization of the human PCK1 gene...
Phosphoenolpyruvate carboxykinase (GTP): characterization of the human PCK1 gene and localization distal to MODY on chromosome 20.
Genomics. 1993 Jun ;16(3):698-706.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

Phosphoenolpyruvate carboxykinase (GTP): characterization of the human PCK1 gene and localization distal to MODY on chromosome 20.

Source

Abstract

Publication Types, MeSH Terms, Substances, Secondary Source ID, Grant Support

Publication Types

MeSH Terms

Substances

Secondary Source ID

Grant Support

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Research Materials

Miscellaneous

Supplemental Content

Save items

Related citations in PubMed

Cited by 4 PubMed Central articles

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information