ACVR1C - activin A receptor type 1C Gene

Also Known as ALK7; ACVRLK7

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 130399

About ACVR1C

Cytogenetic location: 2q24.1 Genomic coordinates (GRCh38): 2:157,526,767-157,628,864 (from NCBI)

This gene has 4 transcripts (splice variants), 215 orthologues and 11 paralogues. Biased expression in fat (RPKM 19.0), colon (RPKM 1.8) and 6 other tissues.

Summary

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]

ACVR1C Products (4)

mRNA Protein Name
NM_001111031.2 NP_001104501.1 activin receptor type-1C isoform 2
NM_001111032.2 NP_001104502.1 activin receptor type-1C isoform 3 precursor
NM_001111033.2 NP_001104503.1 activin receptor type-1C isoform 4 precursor
NM_145259.3 NP_660302.2 activin receptor type-1C isoform 1 precursor

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Verweise Source
enables activin receptor activity, type I IDA
IDA: Inferred from direct assay
12063393 GOA
enables growth factor binding IPI
IPI: Inferred from physical interaction
21805089 GOA
enables nodal binding IMP
IMP: Inferred from mutant phenotype
21356369 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in apoptotic nuclear changes IDA
IDA: Inferred from direct assay
15531507 GOA
involved in cell differentiation IDA
IDA: Inferred from direct assay
15531507 GOA
involved in negative regulation of chorionic trophoblast cell proliferation IMP
IMP: Inferred from mutant phenotype
15150278 GOA
involved in negative regulation of trophoblast cell migration IDA
IDA: Inferred from direct assay
21356369 GOA
involved in nodal signaling pathway IMP
IMP: Inferred from mutant phenotype
15150278 GOA
acts upstream of or within positive regulation of apoptotic process IDA
IDA: Inferred from direct assay
15150278 GOA
involved in positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IMP
IMP: Inferred from mutant phenotype
15150278 GOA
acts upstream of or within trophectodermal cell proliferation IDA
IDA: Inferred from direct assay
15150278 GOA
Cellular Component GO Annotation Evidence Verweise Source
part of activin receptor complex IDA
IDA: Inferred from direct assay
15531507 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ACVR1C Protein Structure

Activin_recp

Activin_recp: Activin types I and II receptor domain (26 - 96)

TGF_beta_GS

TGF_beta_GS: Transforming growth factor beta type I GS-motif (165 - 193)

Pkinase

Pkinase: Protein kinase domain (197 - 480)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 493 a.a.
Protein Preferred Names Protein Names

activin receptor type-1C

  • ACTR-IC

  • ALK-7

  • activin A receptor, type IC

  • activin receptor type IC

  • activin receptor-like kinase 7

Recombinant ACVR1C Proteins

Art. -Nr. Produktname Accession Reinheit
HY-P74417 ALK-7 Protein, Human (HEK293, Fc) Q8NER5 (L22-E113) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Fibrodysplasia Ossificans Progressiva

  • Myositis Ossificans Progressiva

  • Progressive Myositis Ossificans

  • FOP

  • Progressive Ossifying Myositis

  • Myositis Ossificans

  • Stone Man Syndrome

  • Man Of Stone

  • Myositis Ossificans Progressive

  • Diffuse Progressive Ossifying Polymyositis

  • Fibrodysplasia Ossificans Congenita

  • Myositis Ossificans Progressiva, Site Unspecified

  • Münchmeyer Disease

  • Fop - [Fibrodysplasia Ossificans Progressiva]

  • Progressive Myositis Ossificans Calcification
Acquired Hyperkeratosis

  • Acquired Keratoderma

  • Keratoderma - Acquired

  • Keratoderma, Acquired

  • Keratosis Blennorrhagica
Extraocular Retinoblastoma

  • Pediatric Extraocular Retinoblastoma
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS00242 ACVR1C Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS00243 Acvr1c Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS00244 Acvr1c Rat Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-174784 Human ACVR1C mRNA / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus ACVR1C RGD RGD:621789
Canis familiaris ACVR1C VGNC VGNC:37563
Macaca mulatta ACVR1C VGNC VGNC:69457
Felis catus ACVR1C VGNC VGNC:59564
Mus musculus ACVR1C MGD MGI:2661081
Bos taurus ACVR1C VGNC VGNC:25594
Others ACVR1C NCBI