Identification, Characterization, and Precise Mapping of a Human Gene Encoding a Novel Membrane-Spanning Protein from the 22q11 Region Deleted in Velo–Cardio–Facial Syndrome

Genomics ◽  
1997 ◽  
Vol 42 (2) ◽  
pp. 245-251 ◽  
Author(s):  
Howard Sirotkin ◽  
Bernice Morrow ◽  
Bruno Saint-Jore ◽  
Anne Puech ◽  
Ruchira Das Gupta ◽  
...  
Keyword(s):  
Human Gene ◽  
Gene Encoding ◽  
Precise Mapping ◽  
Membrane Spanning ◽  
Velo Cardio Facial Syndrome ◽  
22Q11 Region

scholarly journals GIT1, a Gene Encoding a Novel Transporter for Glycerophosphoinositol in Saccharomyces cerevisiae

Genetics ◽  
1998 ◽  
Vol 149 (4) ◽  
pp. 1707-1715 ◽  
Author(s):  
J L Patton-Vogt ◽  
S A Henry
Keyword(s):  
Saccharomyces Cerevisiae ◽  
Regulatory Gene ◽  
Sugar Transport ◽  
Open Reading Frame ◽  
Gene Encoding ◽  
Reading Frame ◽  
Membrane Spanning ◽  
Membrane Spanning Domains ◽  
Uptake And Metabolism ◽  
Cells Cultured

Abstract Phosphatidylinositol catabolism in Saccharomyces cerevisiae cells cultured in media containing inositol results in the release of glycerophosphoinositol (GroPIns) into the medium. As the extracellular concentration of inositol decreases with growth, the released GroPIns is transported back into the cell. Exploiting the ability of the inositol auxotroph, ino1, to use exogenous GroPIns as an inositol source, we have isolated mutants (Git−) defective in the uptake and metabolism of GroPIns. One mutant was found to be affected in the gene encoding the transcription factor, SPT7. Mutants of the positive regulatory gene INO2, but not of its partner, INO4, also have the Git− phenotype. Another mutant was complemented by a single open reading frame (ORF) termed GIT1 (glycerophosphoinositol). This ORF consists of 1556 bp predicted to encode a polypeptide of 518 amino acids and 57.3 kD. The predicted Git1p has similarity to a variety of S. cerevisiae transporters, including a phosphate transporter (Pho84p), and both inositol transporters (Itr1p and Itr2p). Furthermore, Git1p contains a sugar transport motif and 12 potential membrane-spanning domains. Transport assays performed on a git1 mutant together with the above evidence indicate that the GIT1 gene encodes a permease involved in the uptake of GroPIns.

Association analysis of the Arg220His variation of the human gene encoding the GABA δ subunit with idiopathic generalized epilepsy

2005 ◽  
Vol 65 (1-2) ◽  
pp. 53-57 ◽  
Author(s):  
Kirsten P. Lenzen ◽  
Armin Heils ◽  
Susanne Lorenz ◽  
Anne Hempelmann ◽  
Thomas Sander
Keyword(s):  
Association Analysis ◽  
Human Gene ◽  
Idiopathic Generalized Epilepsy ◽  
Gene Encoding ◽  
Generalized Epilepsy

Chromosomal localization and preliminary characterization of the human gene encoding insulin-like growth factor II

1985 ◽  
Vol 69 (2) ◽  
pp. 170-173 ◽  
Author(s):  
P. de Pagter-Holthuizen ◽  
J. W. M. Höppener ◽  
M. Jansen ◽  
A. H. M. Geurts van Kessel ◽  
G. J. B. van Ommen ◽  
...  
Keyword(s):  
Growth Factor ◽  
Chromosomal Localization ◽  
Human Gene ◽  
Insulin Like Growth Factor ◽  
Gene Encoding ◽  
Preliminary Characterization ◽  
Factor Ii

A human gene that shows identity with the gene encoding the angiotensin receptor is located on chromosome 11

Gene ◽  
1993 ◽  
Vol 136 (1-2) ◽  
pp. 355-360 ◽  
Author(s):  
Brian F. O'Dowd ◽  
Michael Heiber ◽  
Audrey Chan ◽  
Henry H.Q. Heng ◽  
Lap-Chee Tsui ◽  
...  
Keyword(s):  
Human Gene ◽  
Angiotensin Receptor ◽  
Chromosome 11 ◽  
Gene Encoding
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