| General information |
| Gene name |
GATA binding protein 1 (globin transcription factor 1) |
| Gene symbol |
GATA1 |
| Chromosome Location |
Xp11.23 |
| Database location |
www.dbagenes.unito.it |
| Curator |
I. Boria and U. Ramenghi |
| PubMed references |
View all (unique) PubMed references in the GATA1 database |
| Date of creation |
February 20, 2014 |
| Last update |
February 20, 2014 |
| Version |
GATA1 140220 |
| Add sequence variant |
Submit a sequence variant |
| First time submitters |
Register here |
| Reference sequence file |
coding DNA reference sequence for describing sequence variants |
| Genomic refseq ID |
NC_000023.11 |
| Transcript refseq ID |
NM_002049.3 |
| Total number of unique DNA variants reported |
0 |
| Total number of individuals with variant(s) |
0 |
| Total number of variants reported |
0 |
| Subscribe to updates of this gene |
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| NOTE |
The GATA1 gene comprises 6 exons spanning 7.7 kB genomic length gene. The predicted size of the primary transcript is 1501 bp; it encodes for a 413 amino acid protein (MW 42.6 kDa). There is a short isoform encoded from the same transcript that is 83 aa shorter; it appears relevant for DBA pathogenesis.
This database was partially supported by the ENERCA (European Network for Rare and Congenital Anaemias) project. |
| Copyright & disclaimer |
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2024. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.
We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided. |
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