ACVR1C Gene Summary [Human]
ACVR1C is a type I receptor for the TGFB (see MIM 190180) family of signaling molecules. Upon ligand binding, type I receptors phosphorylate cytoplasmic SMAD transcription factors, which then translocate to the nucleus and interact directly with DNA or in complex with other transcription factors (Bondestam et al., 2001 [PubMed 12063393]).[supplied by OMIM, Mar 2008]
Details
| Type | Protein Coding |
| Official Symbol | ACVR1C |
| Official Name | activin A receptor type 1C [Source:HGNC Symbol;Acc:HGNC:18123] |
| Ensembl ID | ENSG00000123612 |
| Bio databases IDs | |
| Aliases | activin A receptor type 1C |
| Synonyms | activin A receptor type 1C, activin A receptor, type IC, ACTR-IC, ACVRLK7, ALK7, C230097P10, habrec1 |
| 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 ACVR1C often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SMAD binding
- protein serine/threonine kinase
- Protein kinase (unclassified specificity)
- Activin types I and II receptor domain
- Protein tyrosine and serine/threonine kinase
- activin binding
- ATP binding
- protein binding
- receptor binding
- Protein kinase domain
- kinase
- Serine/Threonine protein kinases, catalytic domain
- type I activin receptor
- Protein Kinases, catalytic domain
- activin receptor
- Transforming growth factor beta type I GS-motif
- TFP
- Tyrosine kinase, catalytic domain
- growth factor binding
Pathways
Biological processes and signaling networks where the ACVR1C gene in human plays a role, providing insight into its function and relevance in health or disease.
- Cellular Effects of Sildenafil (Viagra)
- Epithelial Adherens Junction Signaling
- Factors Promoting Cardiogenesis in Vertebrates
- FAK Signaling
- GADD45 Signaling
- Neuroinflammation Signaling Pathway
- PPARα/RXRα Activation
- RAR Activation
- Role of Tissue Factor in Cancer
- TGF-β Signaling
- Th1 and Th2 Activation Pathway
- Th2 Pathway
- Transcriptional Regulatory Network in Embryonic Stem Cells
- WNT/β-catenin Signaling
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
- weight gain
- hepatic steatosis
- hyperinsulinism
- central obesity
- chronic epilepsy
role in cell
- phosphorylation in
- apoptosis
- expression in
- proliferation
- activation in
- morphology
- quantity
- invasion by
- growth
- depletion
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
- cell surface
- cellular membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ACVR1C gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lipid storage
- insulin secretion
- apoptotic nuclear change
- nervous system development
- negative regulation of insulin secretion
- response to dietary excess
- protein phosphorylation
- nodal signaling pathway
- activin receptor signaling pathway
- positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
- response to glucose stimulus
- response to insulin stimulus
- trophectodermal cell proliferation
- cellular response to growth factor stimulus
- positive regulation of apoptotic process
- cell differentiation
Cellular Component
Where in the cell the gene product is active
- activin receptor complex
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- ATP binding
- growth factor binding
- metal ion binding
- nodal binding
- activin receptor activity, type I
- protein serine/threonine kinase activity