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Aliases for ACVR1C Gene

Aliases for ACVR1C Gene

  • Activin A Receptor Type 1C 2 3
  • Activin Receptor-Like Kinase 7 3 4
  • Activin A Receptor, Type IC 2 3
  • Activin A Receptor Type IC 3 5
  • Activin Receptor Type IC 3 4
  • EC 2.7.11.30 4 63
  • ACTR-IC 3 4
  • ALK-7 3 4
  • ALK7 3 4
  • EC 2.7.11 63
  • ACVRLK7 3

External Ids for ACVR1C Gene

Previous GeneCards Identifiers for ACVR1C Gene

  • GC02M158352
  • GC02M158592
  • GC02M158593
  • GC02M158214
  • GC02M158097
  • GC02M150268

Summaries for ACVR1C Gene

Entrez Gene Summary for ACVR1C Gene

  • 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]

GeneCards Summary for ACVR1C Gene

ACVR1C (Activin A Receptor Type 1C) is a Protein Coding gene. Diseases associated with ACVR1C include myositis ossificans. Among its related pathways are Signaling pathways regulating pluripotency of stem cells and TGF-beta signaling pathway (KEGG). GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is TGFBR2.

UniProtKB/Swiss-Prot for ACVR1C Gene

  • Serine/threonine protein kinase which forms a receptor complex on ligand binding. The receptor complex consisting of 2 type II and 2 type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators, SMAD2 and SMAD3. Receptor for activin AB, activin B and NODAL. Plays a role in cell differentiation, growth arrest and apoptosis.

Tocris Summary for ACVR1C Gene

  • Activin receptors transduce signals carried by the TGF-beta family of ligands. Such ligands include activin and bone morphogenetic proteins (BMPs). Members of this family are involved in a range of processes, including embryogenesis and tissue homeostasis.

Gene Wiki entry for ACVR1C Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACVR1C Gene

Genomics for ACVR1C Gene

Regulatory Elements for ACVR1C Gene

Enhancers for ACVR1C Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ACVR1C on UCSC Golden Path with GeneCards custom track

Promoters for ACVR1C Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ACVR1C on UCSC Golden Path with GeneCards custom track

Genomic Location for ACVR1C Gene

Chromosome:
2
Start:
157,526,767 bp from pter
End:
157,629,005 bp from pter
Size:
102,239 bases
Orientation:
Minus strand

Genomic View for ACVR1C Gene

Genes around ACVR1C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACVR1C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACVR1C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACVR1C Gene

Proteins for ACVR1C Gene

  • Protein details for ACVR1C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NER5-ACV1C_HUMAN
    Recommended name:
    Activin receptor type-1C
    Protein Accession:
    Q8NER5
    Secondary Accessions:
    • Q4ZFZ8
    • Q86UL1
    • Q86UL2
    • Q8TBG2

    Protein attributes for ACVR1C Gene

    Size:
    493 amino acids
    Molecular mass:
    54871 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Binds the type 2 receptor protein ACVR2A.

    Alternative splice isoforms for ACVR1C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACVR1C Gene

Proteomics data for ACVR1C Gene at MOPED

Post-translational modifications for ACVR1C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACVR1C Gene

Antibody Products

  • Cloud-Clone Corp. Antibodies for ACVR1C

Domains & Families for ACVR1C Gene

Suggested Antigen Peptide Sequences for ACVR1C Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NER5

UniProtKB/Swiss-Prot:

ACV1C_HUMAN :
  • Contains 1 GS domain.
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
Domain:
  • Contains 1 GS domain.
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
genes like me logo Genes that share domains with ACVR1C: view

Function for ACVR1C Gene

Molecular function for ACVR1C Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + [receptor-protein] = ADP + [receptor-protein] phosphate.
UniProtKB/Swiss-Prot Function:
Serine/threonine protein kinase which forms a receptor complex on ligand binding. The receptor complex consisting of 2 type II and 2 type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators, SMAD2 and SMAD3. Receptor for activin AB, activin B and NODAL. Plays a role in cell differentiation, growth arrest and apoptosis.

Enzyme Numbers (IUBMB) for ACVR1C Gene

Gene Ontology (GO) - Molecular Function for ACVR1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004674 protein serine/threonine kinase activity TAS --
GO:0016361 activin receptor activity, type I IDA 12063393
GO:0019838 growth factor binding IPI 21805089
GO:0038100 nodal binding IMP 21356369
genes like me logo Genes that share ontologies with ACVR1C: view
genes like me logo Genes that share phenotypes with ACVR1C: view

Animal Models for ACVR1C Gene

MGI Knock Outs for ACVR1C:

Animal Model Products

  • Taconic Biosciences Mouse Models for ACVR1C

In Situ Assay Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ACVR1C Gene

Localization for ACVR1C Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACVR1C Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ACVR1C Gene COMPARTMENTS Subcellular localization image for ACVR1C gene
Compartment Confidence
plasma membrane 5
cytoskeleton 2
cytosol 2
extracellular 2
lysosome 1
mitochondrion 1
nucleus 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ACVR1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ACVR1C: view

Pathways & Interactions for ACVR1C Gene

genes like me logo Genes that share pathways with ACVR1C: view

Pathways by source for ACVR1C Gene

1 Sino Biological pathway for ACVR1C Gene
1 BioSystems pathway for ACVR1C Gene

SIGNOR curated interactions for ACVR1C Gene

Activates:

Gene Ontology (GO) - Biological Process for ACVR1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA,IC 12063393
GO:0019915 lipid storage IEA --
GO:0023014 signal transduction by protein phosphorylation IEA --
GO:0030154 cell differentiation IDA 15531507
GO:0043280 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IMP 15150278
genes like me logo Genes that share ontologies with ACVR1C: view

Drugs & Compounds for ACVR1C Gene

(8) Drugs for ACVR1C Gene - From: HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Manganese Pharma 32
Magnesium Nutra 0
DMH-1 Pharma Selective BMP ALK2 receptor, Selective ALK2 inhibitor 0
ML347 Pharma BMP receptor inhibitor,potent and selective, Potent and selective ALK1 and ALK2 inhibitor 0

(3) Additional Compounds for ACVR1C Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
A 83-01
909910-43-6
Dorsomorphin dihydrochloride
1219168-18-9

(5) Tocris Compounds for ACVR1C Gene

Compound Action Cas Number
A 83-01 Selective inhibitor of TGF-betaRI, ALK4 and ALK7 909910-43-6
DMH-1 Selective ALK2 inhibitor 1206711-16-1
Dorsomorphin dihydrochloride Potent and selective AMPK inhibitor 1219168-18-9
ML 347 Potent and selective ALK1 and ALK2 inhibitor 1062368-49-3
SB 505124 Selective inhibitor of TGF-betaRI, ALK4 and ALK7 694433-59-5
genes like me logo Genes that share compounds with ACVR1C: view

Transcripts for ACVR1C Gene

Unigene Clusters for ACVR1C Gene

Activin A receptor, type IC:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ACVR1C Gene

No ASD Table

Relevant External Links for ACVR1C Gene

GeneLoc Exon Structure for
ACVR1C
ECgene alternative splicing isoforms for
ACVR1C

Expression for ACVR1C Gene

mRNA expression in normal human tissues for ACVR1C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACVR1C Gene

This gene is overexpressed in Adipose - Visceral (Omentum) (x15.3), Adipose - Subcutaneous (x10.2), and Breast - Mammary Tissue (x5.4).

SOURCE GeneReport for Unigene cluster for ACVR1C Gene Hs.562901

mRNA Expression by UniProt/SwissProt for ACVR1C Gene

Q8NER5-ACV1C_HUMAN
Tissue specificity: Present in pancreas, heart, colon, small intestine, ovary and the hippocampus, medulla oblongata and putamen of the brain. Isoform 1, isoform 2, isoform 3 and isoform 4 are all expressed in the placenta throughout pregnancy.
genes like me logo Genes that share expression patterns with ACVR1C: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for ACVR1C Gene

Orthologs for ACVR1C Gene

This gene was present in the common ancestor of animals.

Orthologs for ACVR1C Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ACVR1C 35
  • 93.93 (n)
  • 98.07 (a)
ACVR1C 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACVR1C 35
  • 87.93 (n)
  • 91.86 (a)
ACVR1C 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acvr1c 35
  • 86.55 (n)
  • 94.27 (a)
Acvr1c 16
Acvr1c 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ACVR1C 35
  • 99.8 (n)
  • 99.8 (a)
ACVR1C 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acvr1c 35
  • 86.84 (n)
  • 94.69 (a)
oppossum
(Monodelphis domestica)
Mammalia ACVR1C 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACVR1C 36
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACVR1C 35
  • 73.93 (n)
  • 84.19 (a)
ACVR1C 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACVR1C 36
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acvr1c 35
  • 74.07 (n)
  • 79.49 (a)
zebrafish
(Danio rerio)
Actinopterygii CABZ01079442.1 36
  • 67 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta babo 36
  • 42 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 50 (a)
OneToMany
Species with no ortholog for ACVR1C:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ACVR1C Gene

ENSEMBL:
Gene Tree for ACVR1C (if available)
TreeFam:
Gene Tree for ACVR1C (if available)

Paralogs for ACVR1C Gene

(9) SIMAP similar genes for ACVR1C Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for ACVR1C Gene

genes like me logo Genes that share paralogs with ACVR1C: view

Variants for ACVR1C Gene

Sequence variations from dbSNP and Humsavar for ACVR1C Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs56188432 - 157,550,353(+) GCACA(A/G)TCGTC intron-variant, reference, missense
VAR_041408 -
VAR_041409 A lung squamous cell carcinoma sample
rs35500979 - 157,542,743(+) GTCGA(C/T)AGTGT reference, missense
rs7594480 - 157,533,956(+) AGATA(C/T)AGTCT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ACVR1C Gene

Variant ID Type Subtype PubMed ID
esv2643096 CNV Deletion 19546169
esv2329918 CNV Deletion 18987734
esv4635 CNV Deletion 18987735
esv2721013 CNV Deletion 23290073
esv2477101 CNV Deletion 19546169
esv1723038 CNV Deletion 17803354
esv267493 CNV Insertion 20981092
esv2721014 CNV Deletion 23290073

Variation tolerance for ACVR1C Gene

Residual Variation Intolerance Score: 18.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.37; 81.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACVR1C Gene

HapMap Linkage Disequilibrium report
ACVR1C
Human Gene Mutation Database (HGMD)
ACVR1C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACVR1C Gene

Disorders for ACVR1C Gene

MalaCards: The human disease database

(1) MalaCards diseases for ACVR1C Gene - From: DISEASES

Disorder Aliases PubMed IDs
myositis ossificans
  • myisitis ossificans
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ACVR1C

Genetic Association Database (GAD)
ACVR1C
Human Genome Epidemiology (HuGE) Navigator
ACVR1C
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACVR1C
genes like me logo Genes that share disorders with ACVR1C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ACVR1C Gene

Publications for ACVR1C Gene

  1. Identification of novel isoforms of activin receptor-like kinase 7 (ALK7) generated by alternative splicing and expression of ALK7 and its ligand, Nodal, in human placenta. (PMID: 12606401) Roberts H.J. … Peng C. (Biol. Reprod. 2003) 3 4 23 67
  2. ALK7 expression is specific for adipose tissue, reduced in obesity and correlates to factors implicated in metabolic disease. (PMID: 19275893) Carlsson L.M. … SjAPholm K. (Biochem. Biophys. Res. Commun. 2009) 3 23
  3. Cyclin G2 is degraded through the ubiquitin-proteasome pathway and mediates the antiproliferative effect of activin receptor-like kinase 7. (PMID: 18784254) Xu G. … Peng C. (Mol. Biol. Cell 2008) 3 23
  4. Insulin gene is a target in activin receptor-like kinase 7 signaling pathway in pancreatic beta-cells. (PMID: 18951876) Watanabe R. … Yamada Y. (Biochem. Biophys. Res. Commun. 2008) 3 23
  5. Activin receptor-like kinase 7 induces apoptosis through up-regulation of Bax and down-regulation of Xiap in normal and malignant ovarian epithelial cell lines. (PMID: 16603637) Xu G. … Peng C. (Mol. Cancer Res. 2006) 3 23

Products for ACVR1C Gene

Sources for ACVR1C Gene

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