Literature DB >> 9521868

Cloning and expression of an immunoglobulin superfamily gene (IGSF1) in Xq25.

R Mazzarella1, G Pengue, J Jones, C Jones, D Schlessinger.   

Abstract

We have isolated a novel full-length cDNA for a gene (IGSF1) located in distal Xq25. This transcript is highly expressed in adult testis and fetal liver but is undetectable in adult liver. A smaller alternate form is highly expressed in adult heart. The gene encodes a protein of 1327 amino acids with several recognizable functional domains. The protein has a putative signal peptide and transmembrane region, 15 potential sites for N-linked glycosylation, and 12 C2-type immunoglobulin (Ig)-like domains. All of the Ig-like domains contain the two conserved cysteine residues that form intradomain disulfide bonds typical of this superfamily. These features are consistent with a possible role for this molecule in cell surface recognition or cell-cell interaction.

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Year:  1998        PMID: 9521868     DOI: 10.1006/geno.1997.5156

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  15 in total

1.  TRH Action Is Impaired in Pituitaries of Male IGSF1-Deficient Mice.

Authors:  Marc-Olivier Turgeon; Tanya L Silander; Denica Doycheva; Xiao-Hui Liao; Marc Rigden; Luisina Ongaro; Xiang Zhou; Sjoerd D Joustra; Jan M Wit; Mike G Wade; Heike Heuer; Samuel Refetoff; Daniel J Bernard
Journal:  Endocrinology       Date:  2017-04-01       Impact factor: 4.736

2.  Global gene expression profiling of somatic motor neuron populations with different vulnerability identify molecules and pathways of degeneration and protection.

Authors:  Eva Hedlund; Martin Karlsson; Teresia Osborn; Wesley Ludwig; Ole Isacson
Journal:  Brain       Date:  2010-08       Impact factor: 13.501

3.  The IGSF1, Wnt5a, FGF14, and ITPR1 Gene Expression and Prognosis Hallmark of Prostate Cancer.

Authors:  Sheida Ebrahimi; Fariba Rezaei Fakhrnezhad; Sanaz Jahangiri; Mahdis Borjkhani; Rosa Behboodi; Amir Monfaredan
Journal:  Rep Biochem Mol Biol       Date:  2022-04

4.  Normal reproductive function in InhBP/p120-deficient mice.

Authors:  Daniel J Bernard; Kathleen H Burns; Bisong Haupt; Martin M Matzuk; Teresa K Woodruff
Journal:  Mol Cell Biol       Date:  2003-07       Impact factor: 4.272

5.  An internal signal sequence directs intramembrane proteolysis of a cellular immunoglobulin domain protein.

Authors:  Thalia Robakis; Beata Bak; Shu-huei Lin; Daniel J Bernard; Peter Scheiffele
Journal:  J Biol Chem       Date:  2008-11-03       Impact factor: 5.157

Review 6.  Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.

Authors:  Qing Fang; Akima S George; Michelle L Brinkmeier; Amanda H Mortensen; Peter Gergics; Leonard Y M Cheung; Alexandre Z Daly; Adnan Ajmal; María Ines Pérez Millán; A Bilge Ozel; Jacob O Kitzman; Ryan E Mills; Jun Z Li; Sally A Camper
Journal:  Endocr Rev       Date:  2016-11-09       Impact factor: 19.871

7.  A Case of Congenital Central Hypothyroidism Caused by a Novel Variant (Gln1255Ter) in IGSF1 Gene

Authors:  Doğa Türkkahraman; Nimet Karataş Torun; Nadide Cemre Randa
Journal:  J Clin Res Pediatr Endocrinol       Date:  2020-08-10

8.  Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.

Authors:  Yu Sun; Beata Bak; Nadia Schoenmakers; A S Paul van Trotsenburg; Wilma Oostdijk; Peter Voshol; Emma Cambridge; Jacqueline K White; Paul le Tissier; S Neda Mousavy Gharavy; Juan P Martinez-Barbera; Wilhelmina H Stokvis-Brantsma; Thomas Vulsma; Marlies J Kempers; Luca Persani; Irene Campi; Marco Bonomi; Paolo Beck-Peccoz; Hongdong Zhu; Timothy M E Davis; Anita C S Hokken-Koelega; Daria Gorbenko Del Blanco; Jayanti J Rangasami; Claudia A L Ruivenkamp; Jeroen F J Laros; Marjolein Kriek; Sarina G Kant; Cathy A J Bosch; Nienke R Biermasz; Natasha M Appelman-Dijkstra; Eleonora P Corssmit; Guido C J Hovens; Alberto M Pereira; Johan T den Dunnen; Michael G Wade; Martijn H Breuning; Raoul C Hennekam; Krishna Chatterjee; Mehul T Dattani; Jan M Wit; Daniel J Bernard
Journal:  Nat Genet       Date:  2012-11-11       Impact factor: 38.330

9.  IGSF1 deficiency syndrome: A newly uncovered endocrinopathy.

Authors:  Sjoerd D Joustra; A S Paul van Trotsenburg; Yu Sun; Monique Losekoot; Daniel J Bernard; Nienke R Biermasz; Wilma Oostdijk; Jan M Wit
Journal:  Rare Dis       Date:  2013-05-02

10.  Local network topology in human protein interaction data predicts functional association.

Authors:  Hua Li; Shoudan Liang
Journal:  PLoS One       Date:  2009-07-29       Impact factor: 3.240

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