ACVR1C (activin A receptor type 1C)

2004-04-01  

Identity

HGNC
LOCATION
2q24.1
LOCUSID
ALIAS
ACVRLK7,ALK7
FUSION GENES

Other Information

Locus ID:

NCBI: 130399
MIM: 608981
HGNC: 18123
Ensembl: ENSG00000123612

Variants:

dbSNP: 130399
ClinVar: 130399
TCGA: ENSG00000123612
COSMIC: ACVR1C

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000123612ENST00000243349Q8NER5
ENSG00000123612ENST00000335450Q8NER5
ENSG00000123612ENST00000348328Q8NER5
ENSG00000123612ENST00000409680Q8NER5

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
TGF-beta signaling pathwayKEGGko04350
TGF-beta signaling pathwayKEGGhsa04350
Signaling pathways regulating pluripotency of stem cellsKEGGhsa04550
Signaling pathways regulating pluripotency of stem cellsKEGGko04550
Signal TransductionREACTOMER-HSA-162582
Signaling by ActivinREACTOMER-HSA-1502540
Developmental BiologyREACTOMER-HSA-1266738
Signaling by NODALREACTOMER-HSA-1181150
Regulation of signaling by NODALREACTOMER-HSA-1433617

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
383073842024Human ACVR1C missense variants that correlate with altered body fat distribution produce metabolic alterations of graded severity in knock-in mutant mice.0
383073842024Human ACVR1C missense variants that correlate with altered body fat distribution produce metabolic alterations of graded severity in knock-in mutant mice.0
341733362022Regulation of metabolic homeostasis by the TGF-β superfamily receptor ALK7.9
356660322022Activin receptor-like kinase 7 silencing alleviates cardiomyocyte apoptosis, cardiac fibrosis, and dysfunction in diabetic rats.1
341733362022Regulation of metabolic homeostasis by the TGF-β superfamily receptor ALK7.9
356660322022Activin receptor-like kinase 7 silencing alleviates cardiomyocyte apoptosis, cardiac fibrosis, and dysfunction in diabetic rats.1
334992752021UV-Induced Reduction of ACVR1C Decreases SREBP1 and ACC Expression by the Suppression of SMAD2 Phosphorylation in Normal Human Epidermal Keratinocytes.1
334992752021UV-Induced Reduction of ACVR1C Decreases SREBP1 and ACC Expression by the Suppression of SMAD2 Phosphorylation in Normal Human Epidermal Keratinocytes.1
316084962020Knockdown of ALK7 inhibits high glucose-induced oxidative stress and apoptosis in retinal pigment epithelial cells.0
323663582020Control of brown adipose tissue adaptation to nutrient stress by the activin receptor ALK7.7
316084962020Knockdown of ALK7 inhibits high glucose-induced oxidative stress and apoptosis in retinal pigment epithelial cells.0
323663582020Control of brown adipose tissue adaptation to nutrient stress by the activin receptor ALK7.7
303678332019MicroRNA-454 contributes to sustaining the proliferation and invasion of trophoblast cells through inhibiting Nodal/ALK7 signaling in pre-eclampsia.18
304019832019ACVR1C/SMAD2 signaling promotes invasion and growth in retinoblastoma.20
310637572019ALK7 Signaling Manifests a Homeostatic Tissue Barrier That Is Abrogated during Tumorigenesis and Metastasis.20

Citation

Dessen P

ACVR1C (activin A receptor type 1C)

Atlas Genet Cytogenet Oncol Haematol. 2004-04-01

Online version: http://atlasgeneticsoncology.org/gene/566/meetings/css/welcome