NIPAL4 Gene Summary [Human]
This gene likely encodes a membrane receptor. Mutations in this gene have been associated with autosomal recessive congenital ichthyosis. [provided by RefSeq, Feb 2010]
Details
| Type | Protein Coding |
| Official Symbol | NIPAL4 |
| Official Name | NIPA like domain containing 4 [Source:HGNC Symbol;Acc:HGNC:28018] |
| Ensembl ID | ENSG00000172548 |
| Bio databases IDs | |
| Aliases | NIPA like domain containing 4, ichthyin |
| Synonyms | 9530066K23Rik, ARCI6, ICHTHYIN, ICHYN, NIPA4, NIPA-like domain containing 4, RGD1309452, SLC57A6 |
| 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 NIPAL4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- EamA-like transporter family
- protein binding
- Magnesium transporter NIPA
- Putative transmembrane family 234
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- NIPAL4-related autosomal recessive congenital ichthyosis
- lamellar ichthyosis
- hyperkeratosis
- erythrokeratodermia variabilis et progressiva 1
- weight loss
regulates
- NP ceramide
- ceramide
- magnesium
- alpha-hydroxy phytoceramide
role in cell
- differentiation
- formation
- number
- abnormal morphology
- size
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Unknown
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NIPAL4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- magnesium ion transport
Cellular Component
Where in the cell the gene product is active
- membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- magnesium ion transmembrane transporter activity