STRA6 Gene Summary [Human]
The protein encoded by this gene is a membrane protein involved in the metabolism of retinol. The encoded protein acts as a receptor for retinol/retinol binding protein complexes. This protein removes the retinol from the complex and transports it across the cell membrane. Defects in this gene are a cause of syndromic microphthalmia type 9 (MCOPS9). Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Details
| Type | Protein Coding |
| Official Symbol | STRA6 |
| Official Name | signaling receptor and transporter of retinol STRA6 [Source:HGNC Symbol;Acc:HGNC:30650] |
| Ensembl ID | ENSG00000137868 |
| Bio databases IDs | |
| Aliases | signaling receptor and transporter of retinol STRA6, retinol binding protein 4 receptor, RBP receptor |
| Synonyms | FLJ12541, MCOPCB8, MCOPS9, PP14296, RGD1307551, signaling receptor and transporter of retinol STRA6, stimulated by retinoic acid gene 6 |
| 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 STRA6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- lipid transporter
- organic alcohol transporter
- Retinol binding protein receptor
- protein binding
- transporter
Pathways
Biological processes and signaling networks where the STRA6 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
- schizophrenia
- syndromic microphthalmia 9
- glioblastoma
- glioblastoma cancer
- colorectal cancer
- colon cancer
- diabetic nephropathy
- renal clear cell adenocarcinoma
- renal clear cell cancer
- epithelial cancer
role in cell
- expression in
- apoptosis
- synthesis in
- depolarization
- number
- abnormal morphology
- degeneration
- signaling by
- activation in
- tyrosine phosphorylation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human STRA6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- vitamin A import
- pulmonary artery morphogenesis
- head development
- lung vasculature development
- ductus arteriosus closure
- vocal learning
- nose morphogenesis
- feeding behavior
- embryonic camera-type eye formation
- uterus morphogenesis
- head morphogenesis
- learning
- face morphogenesis
- heart development
- lung alveolus development
- embryonic digestive tract development
- blood vessel development
- cognition
- kidney development
- positive regulation of behavior
- camera-type eye development
- female genitalia development
- adrenal gland development
- lung development
- ventricular septum development
- alveolar primary septum development
- neuromuscular process
- pulmonary valve morphogenesis
- artery morphogenesis
- smooth muscle tissue development
- digestive tract morphogenesis
- diaphragm development
- developmental growth
- paramesonephric duct development
- eyelid development in camera-type eye
- ear development
- retinol transport
Cellular Component
Where in the cell the gene product is active
- macromolecular complex
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- signaling receptor activity
- retinal binding
- retinol transporter activity
- retinol binding