SORBS1 Gene Summary [Human]
This gene encodes a CBL-associated protein which functions in the signaling and stimulation of insulin. Mutations in this gene may be associated with human disorders of insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
Details
| Type | Protein Coding |
| Official Symbol | SORBS1 |
| Official Name | sorbin and SH3 domain containing 1 [Source:HGNC Symbol;Acc:HGNC:14565] |
| Ensembl ID | ENSG00000095637 |
| Bio databases IDs | |
| Aliases | sorbin and SH3 domain containing 1, c-Cbl-associated protein |
| Synonyms | 2310065E01RIK, 9530001P15Rik, CAP, c-Cbl associated, FLAF2, LOC678826, mKIAA1296, Ponsin, R85FL, SH3D5, SH3P12, SORB1, sorbin and SH3 domain containing 1 |
| 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 SORBS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ubiquitin protein ligase binding
- Family of unknown function (DUF5585)
- insulin receptor binding
- protein kinase binding
- cytoskeletal protein binding
- receptor signaling complex scaffold protein
- actin binding
- protein binding
- Sorbin homologous domain
- Src Homology 3 domain superfamily
Pathways
Biological processes and signaling networks where the SORBS1 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
- hypertension
- COVID-19
- cardiovascular disorder
- metabolic syndrome X
- acute myeloid leukemia
- pervasive developmental disorder
- breast cancer
- obesity
- suicide attempt
- androgenic alopecia
role in cell
- adhesion
- migration
- number
- formation
- assembly
- size
- morphology
- cell spreading
- reorganization
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
- membrane fraction
- cell junction
- cytoskeleton
- Cytoplasm
- cell-matrix contacts
- intracellular space
- cellular membrane
- focal adhesions
- actin cytoskeleton
- Nucleus
- centrosome
- costameres
- cell-cell contacts
- cytosol
- membrane ruffles
- lateral plasma membrane
- nuclear matrix
- synapse
- intercalated disks
- myotendinous junctions
- actin stress fibers
- anchoring junction
- junctional complexes
- zonula adherens
- membrane rafts
- cell-cell adherens junctions
- cytoplasmic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SORBS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell-matrix adhesion
- cellular response to insulin stimulus
- positive regulation of insulin receptor signaling pathway
- insulin receptor signaling pathway
- positive regulation of glucose import
- focal adhesion assembly
- cell-substrate adhesion
- stress fiber assembly
- positive regulation of glycogen biosynthetic process
- positive regulation of lipid biosynthetic process
Cellular Component
Where in the cell the gene product is active
- plasma membrane
- nucleus
- adherens junction
- centrosome
- focal adhesion
- cytoplasm
- membrane raft
- stress fiber
- zonula adherens
- cell-substrate junction
- cytosol
- nuclear matrix
- flotillin complex
Molecular Function
What the gene product does at the molecular level
- protein binding
- actin binding
- insulin receptor binding
- cytoskeletal protein binding
- receptor signaling complex scaffold activity