Structure and Organization of the Human Glucose Phosphate Isomerase Gene (GPI)

Walker, James I. H.; Morgan, Michael J.; Faik, Pelin

doi:10.1006/geno.1995.1241

Cited by 16 publications

(7 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…GPI is a homodimeric enzyme, with each monomer being comprised of 557 amino acid residues with a molecular mass of 63 kDa (protein bank accession number AAH04982). The human gene (GenBank accession number NM_000175.2, MIM# 172400) is located in chromosome 19q13.1 and spans approximately 50 kb (Walker et al, 1995). The crystal structure of human GPI has recently been determined (Read et al, 2001).…”

Section: Introductionmentioning

confidence: 99%

Red cell glucose phosphate isomerase (GPI): a molecular study of three novel mutations associated with hereditary nonspherocytic hemolytic anemia

et al. 2006

View full text Add to dashboard Cite

Molecular characteristics of red blood cell (RBC) glucose phosphate isomerase (GPI) deficiency are described in two Spanish patients with chronic nonspherocytic hemolytic anemia. One patient, with residual GPI activity in RBCs of around 7% (GPI-Catalonia), is homozygous for the missense mutation c.1648A>G (p.Lys550Glu) in exon 18. The other patient, with residual activity in RBCs of around 20% (GPI-Barcelona), was found to be a compound heterozygote for two different missense mutations: c.341A>T (p.Asp113Val) in exon 4 and c.663T>G (p.Asn220Lys) in exon 7. Molecular modeling using the human crystal structure of GPI as a model was performed to determine how these mutations could affect enzyme structure and function.

show abstract

Section: Introductionmentioning

confidence: 99%

Red cell glucose phosphate isomerase (GPI): a molecular study of three novel mutations associated with hereditary nonspherocytic hemolytic anemia

et al. 2006

View full text Add to dashboard Cite

show abstract

“…Additionally, the two missense mutations found concern highly conserved amino acids, suggesting that they play an important role for the function of the enzyme [19,27,29].…”

Section: Discussionmentioning

confidence: 98%

“…The gene encoding human GPI has been assigned to the long arm of chromosome 19 [20], with a length of at least 50 kb [29]. The human GPI gene consists of 18 exons, its size ranging from 44 bp to 153 bp, whereas the introns vary between more than 20 kb (intron 9) down to 87 bp (intron 16).…”

Section: Introductionmentioning

confidence: 99%

Glucose phosphate isomerase deficiency: biochemical and molecular genetic studies on the enzyme variants of two patients with severe haemolytic anaemia

Huppke

Wünsch

Pekrun

et al. 1997

European Journal of Pediatrics

View full text Add to dashboard Cite

show abstract

“…The 50-kb gene for human GPI, located on the long arm of chromosome 19, has been cloned [39,40]; and its structure and organization have been elucidated. Interestingly, it has been reported [25,41] that GPI mRNA shares high sequence homology to the mRNA encoding NLK, which is a soluble neurotrophic mediator for spinal and sensory neurons, associated with motor neuron disease [20,26].…”

Section: Discussionmentioning

confidence: 99%

Cloning of a Glucose Phosphate Isomerase/Neuroleukin-Like Sperm Antigen Involved in Sperm Agglutination1

Yakirevich

Naot

2000

Biology of Reproduction

View full text Add to dashboard Cite

The mouse monoclonal antibody (mAb) A36 produced by us and shown to induce extensive, "tangled" sperm agglutination was used to isolate cDNAs encoding its cognate antigen. Three overlapping cDNA clones specifically recognized by the mAb were isolated from a human testis cDNA expression library in lambdagt11. Sequencing of these cDNAs yielded the complete nucleotide sequence of a 3-kilobase cDNA that encodes the mAb-related polypeptide, designated sperm antigen-36 (SA-36), composed of 558 deduced amino acids. SA-36 cDNA contained a 5' untranslated region of 234 nucleotides (nt), an open reading frame of 1674 nt, and a 3' untranslated region of 1138 nt. SA-36 cDNA displayed > 99% homology to glucose phosphate isomerase (GPI)/neuroleukin (NLK) mRNA. This surprising homology was confirmed in Western blots demonstrating that mAb A36 reacted specifically with GPI obtained from rabbit muscle and from baker's yeast. Moreover, polyclonal, monospecific antibodies produced against beta-galactosidase/SA-36-3 fusion protein stained human spermatozoa and caused intensive agglutination of these cells in a manner similar to that with the mAb. Taken together, the data presented here demonstrated that mAb A36 cognate sperm surface antigen, encoded by SA-36 cDNA, is a GPI/NLK-like protein involved in sperm agglutination.

show abstract

Structure and Organization of the Human Glucose Phosphate Isomerase Gene (GPI)

Cited by 16 publications

References 0 publications

Red cell glucose phosphate isomerase (GPI): a molecular study of three novel mutations associated with hereditary nonspherocytic hemolytic anemia

Red cell glucose phosphate isomerase (GPI): a molecular study of three novel mutations associated with hereditary nonspherocytic hemolytic anemia

Glucose phosphate isomerase deficiency: biochemical and molecular genetic studies on the enzyme variants of two patients with severe haemolytic anaemia

Cloning of a Glucose Phosphate Isomerase/Neuroleukin-Like Sperm Antigen Involved in Sperm Agglutination1

Contact Info

Product

Resources

About