ALKBH1 Gene Summary [Human]
This gene encodes a homolog to the E. coli alkB gene product. The E. coli alkB protein is part of the adaptive response mechanism of DNA alkylation damage repair. It is involved in damage reversal by oxidative demethylation of 1-methyladenine and 3-methylcytosine. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | ALKBH1 |
| Official Name | alkB homolog 1, histone H2A dioxygenase [Source:HGNC Symbol;Acc:HGNC:17911] |
| Ensembl ID | ENSG00000100601 |
| Bio databases IDs | |
| Aliases | alkB homolog 1, histone H2A dioxygenase |
| Synonyms | 2700073G19RIK, ABH, ABH1, alkB, ALKBH, alkB homolog 1, histone H2A dioxygenase, hABH |
| 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 ALKBH1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ferrous iron binding
- tRNA binding
- chemoattractant
- 2-oxoglutarate:oxygen oxidoreductase
- DNA-(apurinic or apyrimidinic site) lyase
- demethylase activity
- enzyme
- protein binding
- 2OG-Fe(II) oxygenase superfamily
- carbon-oxygen lyase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- organismal death
- metastasis
- bleeding
- gastric cancer
- exencephaly
- vascular calcification
- microphthalmia
- growth failure
- liver cancer
- colorectal cancer
role in cell
- expression in
- apoptosis
- differentiation
- abnormal morphology
- migration
- number
- invasion by
- translation in
- function
- morphogenesis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Endoplasmic Reticulum
- Mitochondria
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ALKBH1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- DNA repair
- neuron projection development
- positive chemotaxis
- RNA repair
- developmental growth
- regulation of translational initiation
- placenta development
- tRNA wobble cytosine modification
- negative regulation of neuron apoptotic process
- DNA dealkylation involved in DNA repair
- regulation of translational elongation
- neuron migration
- in utero embryonic development
- regulation of mitochondrial translation
- oxidative RNA demethylation
Cellular Component
Where in the cell the gene product is active
- nucleus
- euchromatin
- cytoplasm
- mitochondrion
- endoplasmic reticulum
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ferrous iron binding
- oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors
- chemoattractant activity
- oxidative RNA demethylase activity
- oxidative DNA demethylase activity
- tRNA binding