ACVR1C - activin A receptor type 1C Gene

Homo sapiens

Also known as ALK7; ACVRLK7

Gene ID: 130399 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

TGF_beta_GS

Pkinase

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

Cat. No.	Product Name	Accession	Purity
HY-P74417	ALK-7 Protein, Human (HEK293, Fc)	Q8NER5 (L22-E113)	≥95%

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

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00242	ACVR1C Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS00243	Acvr1c Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS00244	Acvr1c Rat Pre-designed siRNA Set A	Pre-designed Sets	/	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

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