Literature DB >> 1301163

The gene encoding the palmitoylated erythrocyte membrane protein, p55, originates at the CpG island 3' to the factor VIII gene.

A B Metzenberg1, J Gitschier.   

Abstract

A CpG island 30 kb 3' to the human factor VIII gene in Xq28 is associated with a 2-kb transcript. This gene encodes a previously described palmitoylated membrane protein, p55, containing a src homology motif, SH3. Although originally described in reticulocytes, the transcript is expressed in a wide variety of human tissues. The gene is also present in the mouse and expressed in all mouse tissues examined. No known factor VIII gene deletions extend into the p55 gene. Since the function of the p55 protein is not known, the p55 gene is formally a candidate for any of the 19 or more disease genes that have not been isolated but are closely linked genetically to the factor VIII gene.

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Year:  1992        PMID: 1301163     DOI: 10.1093/hmg/1.2.97

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN: 0964-6906            Impact factor:   6.150


  8 in total

1.  Rapid determination of clonality by detection of two closely-linked X chromosome exonic polymorphisms using allele-specific PCR.

Authors:  Y Liu; J Phelan; R C Go; J F Prchal; J T Prchal
Journal:  J Clin Invest       Date:  1997-04-15       Impact factor: 14.808

2.  Molecular evidence that the p55 gene is not responsible for either of two Xq28-linked disorders: Emery-Dreifuss muscular dystrophy and dyskeratosis congenita.

Authors:  A B Metzenberg; Y Pan; S Das; G S Pai; J Gitschier
Journal:  Am J Hum Genet       Date:  1994-05       Impact factor: 11.025

3.  Regulation of the stem cell leukemia (SCL) gene: a tale of two fishes.

Authors:  L M Barton; B Gottgens; M Gering; J G Gilbert; D Grafham; J Rogers; D Bentley; R Patient; A R Green
Journal:  Proc Natl Acad Sci U S A       Date:  2001-05-29       Impact factor: 11.205

4.  Localization of the gene encoding the erythrocyte membrane protein p55 (Mpp1) on the mouse X Chromosome.

Authors:  L L Peters; L A Kirley; A C Kim; A H Chishti
Journal:  Mamm Genome       Date:  1996-03       Impact factor: 2.957

5.  Cloning and characterization of hdlg: the human homologue of the Drosophila discs large tumor suppressor binds to protein 4.1.

Authors:  R A Lue; S M Marfatia; D Branton; A H Chishti
Journal:  Proc Natl Acad Sci U S A       Date:  1994-10-11       Impact factor: 11.205

6.  Erythrocyte scaffolding protein p55/MPP1 functions as an essential regulator of neutrophil polarity.

Authors:  Brendan J Quinn; Emily J Welch; Anthony C Kim; Mary A Lokuta; Anna Huttenlocher; Anwar A Khan; Shafi M Kuchay; Athar H Chishti
Journal:  Proc Natl Acad Sci U S A       Date:  2009-11-06       Impact factor: 11.205

7.  Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?

Authors:  J J Jonsson; A Renieri; P G Gallagher; C E Kashtan; E M Cherniske; M Bruttini; M Piccini; F Vitelli; A Ballabio; B R Pober
Journal:  J Med Genet       Date:  1998-04       Impact factor: 6.318

8.  The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28.

Authors:  A Auricchio; V Brancolini; G Casari; P J Milla; V V Smith; M Devoto; A Ballabio
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025

  8 in total

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