Gene
gata1b
- ID
- ZDB-GENE-081104-43
- Name
- GATA binding protein 1b
- Symbol
- gata1b Nomenclature History
- Previous Names
-
- si:dkeyp-77f7.5
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in cell fate commitment; negative regulation of transcription by RNA polymerase II; and positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. Human ortholog(s) of this gene implicated in several diseases, including Down syndrome; X-linked recessive disease (multiple); bone marrow cancer (multiple); colon adenocarcinoma; and myeloid leukemia associated with Down Syndrome. Orthologous to human GATA1 (GATA binding protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Pimtong et al., 2014
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital nonspherocytic hemolytic anemia 9 | Alliance | Anemia, congenital, nonspherocytic hemolytic, 9 | 301083 |
| thrombocytopenia | Alliance | Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | 300367 |
| transient myeloproliferative syndrome | Alliance | Leukemia, megakaryoblastic, with or without Down syndrome, somatic | 159595 |
| X-linked dyserythropoietic anemia | Alliance | Anemia, X-linked, with/without neutropenia and/or platelet abnormalities | 300835 |
| X-linked thrombocytopenia with beta-thalassemia | Alliance | Thrombocytopenia with beta-thalassemia, X-linked | 314050 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Transcription factor GATA | Transcription factor, GATA-2/3 | Zinc finger, GATA-type | Zinc finger, NHR/GATA-type |
|---|---|---|---|---|---|
|
UniProtKB:A0A8M9QAH1
|
372 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
gata1b-201
(1)
|
Ensembl | 1,086 nt | ||
| mRNA |
gata1b-202
(1)
|
Ensembl | 887 nt |
Interactions and Pathways
No data available
Plasmids
No data available