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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ACVR1C
activin A receptor type 1C
Chromosome 2 · 2q24.1
NCBI Gene: 130399Ensembl: ENSG00000123612.17HGNC: HGNC:18123UniProt: Q8NER5
40PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
KinaseReceptor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
trophectodermal cell proliferationpositive regulation of apoptotic processactivin receptor activity, type Iactivin receptor activitytype 2 diabetes mellitusdiabetes mellitusAbnormality of the skeletal systemhypertension
✦AI Summary

ACVR1C (activin A receptor type 1C) is a type I serine/threonine kinase that functions as a key component of the TGF-β superfamily signaling pathway. As a transmembrane receptor, ACVR1C forms a heteromeric complex with type II receptors upon ligand binding, leading to phosphorylation and activation of SMAD2/3 transcriptional regulators 1. ACVR1C serves as the primary receptor for activin E and nodal ligands, mediating diverse cellular responses including apoptosis, differentiation, and metabolic homeostasis. Mechanistically, ACVR1C activation suppresses PPARG target genes and reduces lipolysis in adipose tissue, promoting fat accumulation and storage 1. Loss of ACVR1C signaling conversely increases lipolysis and fatty acid oxidation, improving metabolic health. In brown adipocytes, ACVR1C activation via activin E upregulates uncoupling protein 1 (UCP1) and fibroblast growth factor 21 (FGF21), enhancing energy expenditure 2. Clinically, human ACVR1C variants associate with altered body fat distribution and metabolic disease risk. Rare loss-of-function variants correlate with lower waist-to-hip ratio and type 2 diabetes protection 3, while specific missense variants produce graded metabolic phenotypes 4. Additionally, ACVR1C bidirectionally regulates synaptic plasticity and long-term memory formation, with reduced expression in aging and Alzheimer's disease models 5. These findings identify ACVR1C as a therapeutic target for obesity, diabetes, and cognitive impairment.

Sources cited
1
ACVR1C mediates activin E signaling to suppress PPARG target genes and inhibit lipolysis, promoting fat accumulation
PMID: 37523551
2
Loss-of-function variants in ACVR1C associate with lower waist-to-hip ratio and protection from type 2 diabetes
PMID: 35896531
3
Human ACVR1C missense variants produce graded metabolic phenotypes affecting obesity resistance and adipose lipolysis
PMID: 38307384
4
ACVR1C (ALK7) activation by activin E upregulates UCP1 and FGF21 in brown adipocytes via SMAD2/3 phosphorylation
PMID: 38972346
5
ACVR1C bidirectionally regulates synaptic plasticity and long-term memory, with reduced expression in aging brain and 5xFAD Alzheimer's model
PMID: 38714691
6
ACVR1C regulates epidermal lipogenesis through SMAD2 phosphorylation-dependent modulation of SREBP1 and ACC expression
PMID: 33499275
7
ACVR1C (ALK7) is inhibited by SB-431542, a selective inhibitor of TGF-β superfamily type I receptor signaling
PMID: 12065756
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.50Moderate
diabetes mellitusOpen Targets
0.42Moderate
Abnormality of the skeletal systemOpen Targets
0.35Weak
hypertensionOpen Targets
0.34Weak
anaphylaxisOpen Targets
0.31Weak
HepatitisOpen Targets
0.31Weak
preeclampsiaOpen Targets
0.28Weak
urinary tract obstructionOpen Targets
0.15Weak
neoplasmOpen Targets
0.10Suggestive
retinoblastomaOpen Targets
0.08Suggestive
obesityOpen Targets
0.06Suggestive
esophageal squamous cell carcinomaOpen Targets
0.06Suggestive
metabolic syndromeOpen Targets
0.05Suggestive
laryngeal squamous cell carcinomaOpen Targets
0.04Suggestive
glioblastoma multiformeOpen Targets
0.04Suggestive
breast cancerOpen Targets
0.04Suggestive
temporomandibular joint disorderOpen Targets
0.03Suggestive
Alzheimer diseaseOpen Targets
0.03Suggestive
colorectal carcinomaOpen Targets
0.03Suggestive
lung carcinomaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BMP4Protein interaction100%ACVR1Protein interaction100%ACVR2AProtein interaction100%ACVR2BProtein interaction100%GDF1Protein interaction100%GDF2Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Ovary
64%
Liver
53%
Bone Marrow
19%
Heart
16%
Lung
4%
Gene Interaction Network
Click a node to explore
ACVR1CBMP4ACVR1ACVR2AACVR2BGDF1GDF2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8NER5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.60LoF Tolerant
pLIⓘ
0.17Tolerant
Observed/Expected LoF0.42 [0.30–0.60]
RankingsWhere ACVR1C stands among ~20K protein-coding genes
  • #10,122of 20,598
    Most Researched40
  • #4,116of 17,882
    Most Constrained (LOEUF)0.60 · top quartile
Genes detectedACVR1C
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Activin E-ACVR1C cross talk controls energy storage via suppression of adipose lipolysis in mice.
PMID: 37523551
Proc Natl Acad Sci U S A · 2023
1.00
2
Targeting activin receptor-like kinase 7 ameliorates adiposity and associated metabolic disorders.
PMID: 36626233
JCI Insight · 2023
0.90
3
Rare loss of function variants in the hepatokine gene INHBE protect from abdominal obesity.
PMID: 35896531
Nat Commun · 2022
0.80
4
Human ACVR1C missense variants that correlate with altered body fat distribution produce metabolic alterations of graded severity in knock-in mutant mice.
PMID: 38307384
Mol Metab · 2024
0.70
5
Specific exercise patterns generate an epigenetic molecular memory window that drives long-term memory formation and identifies ACVR1C as a bidirectional regulator of memory in mice.
PMID: 38714691
Nat Commun · 2024
0.60