CERT1 Gene Summary [Human]
This gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture disease is the result of an autoimmune response directed at this antigen. One isoform of this protein is also involved in ceramide intracellular transport. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | CERT1 |
| Official Name | ceramide transporter 1 [Source:HGNC Symbol;Acc:HGNC:2205] |
| Ensembl ID | ENSG00000113163 |
| Bio databases IDs | |
| Aliases | ceramide transporter 1, ceramide transporter, StAR-related lipid transfer (START) domain containing 11 |
| Synonyms | 2810404O15Rik, 9230101K08Rik, ceramide transporter 1, CERT, CERTL, COL4A3BP, GPBP, GPBP-1, GPBP-1,3, MRD34, NEDHSF, STARD11 |
| 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 CERT1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- kinase
- SRPBCC domain
- lipid transporter
- protein kinase
- sphingolipid binding
- binding protein
- PH domain
- sphingolipid transporter
- protein binding
- Pleckstrin homology-like domain
- identical protein binding
- phosphatidylinositol binding
Pathways
Biological processes and signaling networks where the CERT1 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
- non-insulin-dependent diabetes mellitus
- Alzheimer disease
- hyperlipidemia
- lung adenocarcinoma
- lung adenocarcinoma formation
- cardiovascular disorder
- hypercholesterolemia
- hereditary disorder
- metabolic disorder
- primary genetic hyperlipidemia
role in cell
- activation in
- apoptosis
- organization
- proliferation
- formation
- formation in
- chemotaxis
- degeneration
- morphogenesis
- internalization by
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
- perinuclear region
- Golgi Apparatus
- Endoplasmic Reticulum
- Mitochondria
- cytosol
- endoplasmic reticulum membrane
- nucleoplasm
- multivesicular bodies
- basement membrane
- glomerular basement membrane
- endothelial basement membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CERT1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell proliferation
- signal transduction
- lipid homeostasis
- cell morphogenesis
- ceramide metabolic process
- endoplasmic reticulum organization
- mitochondrion organization
- heart morphogenesis
- immune response
- in utero embryonic development
- muscle contraction
- ceramide transport
- ER to Golgi ceramide transport
- response to endoplasmic reticulum stress
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- perinuclear region of cytoplasm
- mitochondrion
- cytosol
- Golgi apparatus
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ceramide binding
- protein binding
- kinase activity