ACVR1C (Activin A Receptor Type 1C) Gene
A key TGF-beta superfamily receptor involved in cell differentiation, proliferation, and metabolic regulation.
Gene Information Card
| Symbol | ACVR1C |
|---|---|
| Full Name | Activin A receptor type 1C |
| Gene Type | Protein coding |
| Chromosomal Location | 2q24.1 |
| NCBI Gene ID | 130399 ncbi.nlm.nih.gov/gene/130399 |
| Ensembl ID | ENSG00000123612 |
| UniProt ID | Q8NER5 |
| OMIM ID | 608981 |
| HGNC ID | 18123 |
| Aliases | ALK7, ACVRLK7 |
Description
ACVR1C (Activin A receptor type 1C), also known as ALK7, is a type I receptor for the TGF-beta superfamily of signaling molecules. It binds activins, nodal, and growth differentiation factors, and upon ligand binding, it phosphorylates SMAD proteins (SMAD2/3) to regulate gene expression. ACVR1C plays critical roles in embryonic development, cell differentiation, apoptosis, and metabolic homeostasis. It is expressed in various tissues, including the pancreas, adipose tissue, and brain, and has been implicated in several diseases, including cancer and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pancreatic cancer | ACVR1C acts as a tumor suppressor; loss of expression or inactivating mutations promote tumor growth and metastasis. | COSMIC, PubMed |
| Breast cancer | Dysregulation of ACVR1C signaling affects cell proliferation and invasion; altered expression correlates with poor prognosis. | COSMIC, PubMed |
| Obesity and type 2 diabetes | ACVR1C regulates adipocyte differentiation and insulin sensitivity; variants are associated with metabolic traits. | ClinVar, PubMed |
| Colorectal cancer | Mutations and altered expression of ACVR1C contribute to tumor progression via SMAD signaling. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 12.3 | Medium |
| Adipose tissue | 8.7 | Low |
| Brain | 5.2 | Low |
| Liver | 3.1 | Low |
| Muscle | 2.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PANC-1 (pancreatic cancer) | 15.2 | High expression |
| MCF-7 (breast cancer) | 8.9 | Moderate expression |
| HepG2 (liver cancer) | 4.5 | Low expression |
| A549 (lung cancer) | 2.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Thr412Ala) | Missense | 0.5% in cancer samples | May alter kinase activity |
| c.789_790del (p.Leu264fs) | Frameshift | Rare | Loss of function |
| c.1567C>T (p.Arg523Trp) | Missense | 0.2% in cancer samples | Potential gain of function |
| c.1012G>A (p.Gly338Ser) | Missense | 0.1% in general population | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Inactivating mutations or loss of expression lead to reduced SMAD signaling, promoting tumor growth and metastasis in pancreatic and breast cancers.
Gain of Function (GOF)
Activating mutations may enhance SMAD signaling, potentially affecting cell differentiation and contributing to metabolic disorders.
Dominant Negative (DN)
Some mutations may produce truncated receptors that interfere with wild-type receptor function, disrupting normal signaling.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • protein serine/threonine kinase activity |
| • transmembrane receptor protein serine/threonine kinase activity | • activin receptor activity |
| • SMAD binding | • signal transduction |
| • cell differentiation | • apoptotic process |
Pathways
• TGF-beta signaling pathway
• Activin receptor signaling pathway
• SMAD2/SMAD3 signaling cascade
• Regulation of cell cycle and apoptosis
Protein Summary
The ACVR1C protein is a single-pass type I membrane receptor with an extracellular ligand-binding domain, a transmembrane domain, and an intracellular serine/threonine kinase domain. Upon ligand binding, it forms a complex with type II receptors, leading to phosphorylation of SMAD2/3. These SMAD proteins then translocate to the nucleus to regulate transcription of target genes involved in cell growth, differentiation, and metabolism. ACVR1C is critical for pancreatic beta-cell function, adipocyte differentiation, and neuronal survival.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACVR1C Knockout HEK293 Cell Line | EDJ-KQ363 | Human | 130399 | Details Get a Quote |
| ACVR1C Knockout HeLa Cell Line | EDJ-KQ58277 | Human | 130399 | Details Get a Quote |
| ACVR1C Knockout A-549 Cell Line | EDJ-KQ66765 | Human | 130399 | Details Get a Quote |
| ACVR1C Knockout HCT 116 Cell Line | EDJ-KQ75171 | Human | 130399 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
