GREB1L Gene Summary [Human]
Acts upstream of or within kidney development. Predicted to be integral component of membrane. Implicated in autosomal dominant nonsyndromic deafness and renal agenesis. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Retained Intron |
| Official Symbol | GREB1L |
| Official Name | GREB1 like retinoic acid receptor coactivator [Source:HGNC Symbol;Acc:HGNC:31042] |
| Ensembl ID | ENSG00000141449 |
| Bio databases IDs | |
| Aliases | GREB1 like retinoic acid receptor coactivator |
| Synonyms | C18orf6, DFNA80, GREB1 like retinoic acid receptor coactivator, growth regulation by estrogen in breast cancer-like, KIAA1772, mKIAA4095, RGD1562371, RHDA3 |
| 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 GREB1L often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- GREB1 N-terminal region
- GREB1 C-terminal region
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- renal hypodysplasia/aplasia type 3
- aortic valve calcification
- autosomal dominant deafness type 80
- Rokitansky-Küster-Hauser syndrome
- congenital anomalies of kidney and urinary tract
- renal agenesis or hypodysplasia
- inner ear malformation
regulated by
role in cell
- differentiation
- biogenesis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GREB1L gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- metanephros development
- multicellular organismal development
- kidney development
- male genitalia development
- branching involved in ureteric bud morphogenesis
- mesonephric duct development
- uterus development
- cardiac ventricle development
- paramesonephric duct development
Cellular Component
Where in the cell the gene product is active
- membrane