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
184802592008Growth/differentiation factor 3 signals through ALK7 and regulates accumulation of adipose tissue and diet-induced obesity.41
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
151967002004Activin isoforms signal through type I receptor serine/threonine kinase ALK7.37
213563692011Nodal signals through activin receptor-like kinase 7 to inhibit trophoblast migration and invasion: implication in the pathogenesis of preeclampsia.31
151502782004Nodal and ALK7 inhibit proliferation and induce apoptosis in human trophoblast cells.30
192758932009ALK7 expression is specific for adipose tissue, reduced in obesity and correlates to factors implicated in metabolic disease.27
187842542008Cyclin G2 is degraded through the ubiquitin-proteasome pathway and mediates the antiproliferative effect of activin receptor-like kinase 7.20
237938102014PKM2 and ACVR 1C are prognostic markers for poor prognosis of gallbladder cancer.19
166036372006Activin receptor-like kinase 7 induces apoptosis through up-regulation of Bax and down-regulation of Xiap in normal and malignant ovarian epithelial cell lines.16
151074182004Activin receptor-like kinase-7 induces apoptosis through activation of MAPKs in a Smad3-dependent mechanism in hepatoma cells.13

Citation

Dessen P

ACVR1C (activin A receptor type 1C)

Atlas Genet Cytogenet Oncol Haematol. 2004-04-01

Online version: http://atlasgeneticsoncology.org/gene/566/acvr1c-(activin-a-receptor-type-1c)