KLF1 Gene Summary [Human]
This gene encodes a hematopoietic-specific transcription factor that induces high-level expression of adult beta-globin and other erythroid genes. The zinc-finger protein binds to the DNA sequence CCACACCCT found in the beta hemoglobin promoter. Heterozygous loss-of-function mutations in this gene result in the dominant In(Lu) blood phenotype. [provided by RefSeq, Oct 2009]
Details
| Type | Protein Coding |
| Official Symbol | KLF1 |
| Official Name | Kruppel like factor 1 [Source:HGNC Symbol;Acc:HGNC:6345] |
| Ensembl ID | ENSG00000105610 |
| Bio databases IDs | |
| Aliases | Kruppel like factor 1, KLF transcription factor 1, erythroid Kruppel-like factor |
| Synonyms | CDAN4A, CDAN4B, EKLF, EKLF/KLF1, KLF transcription factor 1, Kruppel-like transcription factor 1 (erythroid), NAN |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human KLF1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- zinc finger DNA binding domain
- transcription regulator
- Erythroid krueppel-like transcription factor, transactivation 1
- Erythroid krueppel-like transcription factor, transactivation 2
- KLF1_2_4_N
- transcription activation domain
- transcription factor binding
- inhibitory domain
- proline rich domain
- C2H2-type zinc ribbon
- C2H2-type zinc finger
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- Zinc-finger double domain
- basic domain
- Zinc finger, C2H2 type
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- activation domain
- DNA binding domain
- nucleic acid binding
- ubiquitin binding
- protein domain specific binding
- protein binding
- sequence-specific DNA binding
- DNA binding
- zinc finger
- double-stranded DNA binding
- zinc finger domain
- transcription factor activity
Pathways
Biological processes and signaling networks where the KLF1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- congenital dyserythropoietic anemia
- anemia
- dyserythropoietic congenital anemia type IV
- borderline hemoglobin A2
- beta thalassemia
- KLF1-related hereditary persistence of fetal hemoglobin
- global developmental delay
- hypochromic microcytic anemia
- hemolysis
role in cell
- activation in
- growth
- expression in
- differentiation
- morphology
- remodeling
- maturation
- abnormal morphology
- transactivation in
- development
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- Cytoplasm
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KLF1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein destabilization
- maternal process involved in female pregnancy
- erythrocyte differentiation
- positive regulation of transcription, DNA-dependent
- regulation of transcription, DNA-dependent
- ubiquitin-dependent protein catabolic process
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- protein binding
- ubiquitin binding
- metal ion binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- transcription regulatory region sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity