STAR Gene Summary [Human]
The protein encoded by this gene plays a key role in the acute regulation of steroid hormone synthesis by enhancing the conversion of cholesterol into pregnenolone. This protein permits the cleavage of cholesterol into pregnenolone by mediating the transport of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane. Mutations in this gene are a cause of congenital lipoid adrenal hyperplasia (CLAH), also called lipoid CAH. A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | STAR |
| Official Name | steroidogenic acute regulatory protein [Source:HGNC Symbol;Acc:HGNC:11359] |
| Ensembl ID | ENSG00000147465 |
| Bio databases IDs | |
| Aliases | steroidogenic acute regulatory protein, StAR related lipid transfer (START) domain containing 1 |
| Synonyms | D8Ertd419e, STARD1, steroidogenic acute regulatory protein |
| 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 STAR often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SRPBCC domain
- lipid transporter
- mitochondrial presequence
- cholesterol binding
- protein binding
- transporter
Pathways
Biological processes and signaling networks where the STAR 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
- organismal death
- congenital lipoid adrenal hyperplasia
- Alzheimer disease
- growth failure
- adrenal cortex carcinoma
- adrenocortical carcinoma
- orthostatic hypotension
- hypoplasia
- adrenal cortical hyperplasia
- endometriosis
role in cell
- activation in
- apoptosis
- cell death
- expression in
- binding in
- quantity
- mitochondrial respiration in
- production in
- morphology
- transmembrane potential
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
- microsomal fraction
- mitochondrial fraction
- somatodendritic region
- Nucleus
- Mitochondria
- lipid droplets
- mitochondria-associated membranes
- mitochondrial cristae
- mitochondrial matrix
- mitochondrial intermembrane space
- mitochondrial outer membrane
- mitochondrial inner membrane
- extracellular matrix
- perikaryon
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human STAR gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of bile acid biosynthetic process
- cholesterol metabolic process
- intracellular cholesterol transport
- cellular lipid metabolic process
- glucocorticoid metabolic process
- steroid biosynthetic process
- regulation of steroid biosynthetic process
Cellular Component
Where in the cell the gene product is active
- mitochondrial intermembrane space
- mitochondrial matrix
Molecular Function
What the gene product does at the molecular level
- protein binding
- cholesterol binding