AMMECR1 Gene Summary [Human]
The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
Details
| Type | Protein Coding |
| Official Symbol | AMMECR1 |
| Official Name | AMMECR nuclear protein 1 [Source:HGNC Symbol;Acc:HGNC:467] |
| Ensembl ID | ENSG00000101935 |
| Bio databases IDs | |
| Aliases | AMMECR nuclear protein 1 |
| Synonyms | 6230420G18Rik, AMMECR nuclear protein 1, AMMERC1, LOC286505, MFHIEN, RGD1561004 |
| 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 AMMECR1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- AMMECR1
- PRK00801
- AmmeMemoRadiSam system protein A
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
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
- Mitochondria
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human AMMECR1 gene, providing context for its role in the cell.
Cellular Component
Where in the cell the gene product is active
- nucleus
- mitochondrion
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding