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Aliases for ACVR1C Gene

Aliases for ACVR1C Gene

  • Activin A Receptor Type 1C 2 3 5
  • Activin Receptor-Like Kinase 7 3 4
  • Activin A Receptor, Type IC 2 3
  • Activin Receptor Type IC 3 4
  • EC 2.7.11.30 4 58
  • ACTR-IC 3 4
  • ALK-7 3 4
  • ALK7 3 4
  • Activin Receptor Type-1C 3
  • EC 2.7.11 58
  • 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 by NODAL and Human Embryonic Stem Cell Pluripotency. 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 TGFBR1.

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

Additional gene information for ACVR1C Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H157929 1.1 ENCODE 5.4 -301.2 -301248 1 HDGF PKNOX1 ATF1 ARNT TCF12 ZNF766 GATA2 ELK1 FOS ATF7 ERMN ACVR1C ENSG00000271320 GC02M157962
GH02H157466 1.2 FANTOM5 ENCODE dbSUPER 3.2 +162.0 162024 0 ZBED1 JUNB EBF1 CEBPG BATF RELA BCL11A EED IKZF1 ATF7 CYTIP ACVR1C GC02M157436
GH02H157479 1.6 FANTOM5 Ensembl ENCODE dbSUPER 2 +148.7 148745 1 BACH1 ZNF175 MAX EBF1 BATF RAD21 YY1 RFX5 ZNF316 EED ERMN ACVR1C CYTIP GC02M157436
GH02H157627 0.9 ENCODE 0.7 +0.3 276 1 ATF1 ZSCAN4 ARID4B RAD21 ZEB1 YY1 ZNF143 EGR2 THAP11 SP3 ACVR1C GC02P157527
GH02H157597 0.6 Ensembl 0.3 +31.6 31566 0 CTCF NCOA6 ZNF10 EBF1 RAD21 NFIC IKZF1 ZNF143 SMC3 EZH2 CYTIP ACVR1C GC02P157527
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000124951 105 1001 ARID4B RAD21 RFX5 ZEB1 YY1 ZNF143 SP3 NFYC ZEB2 REST

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

Selected DME Specific Peptides for ACVR1C Gene

Q8NER5:
  • GMIKLALS
  • RHENILGFIAAD
  • KPAIAHRD
  • IADLGLA
  • FESFKRADIY
  • ARTIVLQE
  • VAVKIFSSR
  • PLLVQRTIA
  • HRDIKSKN
  • SGSGSGLP
  • ASGLAHLH
  • TLKDLIYD

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

Gene 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 :
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
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

Phenotypes From GWAS Catalog for ACVR1C Gene

Gene Ontology (GO) - Molecular Function for ACVR1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity TAS --
GO:0004675 transmembrane receptor protein serine/threonine kinase activity IEA --
GO:0004702 signal transducer, downstream of receptor, with serine/threonine kinase activity IEA --
GO:0005524 ATP binding IEA --
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ACVR1C
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACVR1C gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
cytosol 2
mitochondrion 1
peroxisome 1
nucleus 1
lysosome 1

Gene Ontology (GO) - Cellular Components for ACVR1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0048179 activin receptor complex IDA 15531507
genes like me logo Genes that share ontologies with ACVR1C: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ACVR1C Gene

Pathways & Interactions for ACVR1C Gene

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

Pathways by source 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:0002021 response to dietary excess IEA --
GO:0006468 protein phosphorylation IC 12063393
GO:0006915 apoptotic process IEA --
GO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway IEA --
GO:0009749 response to glucose IEA --
genes like me logo Genes that share ontologies with ACVR1C: view

Drugs & Compounds for ACVR1C Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 35
SB505124 Pharma ALK4/ALK5/ALK7 inhibitor, Selective inhibitor of TGF-betaRI, ALK4 and ALK7 0
SB-505124 hydrochloride Pharma ALK5/ALK4/ALK7 inhibitor in TGF-β/activin signalling,selective 0
ATP Nutra Agonist 0
Magnesium Nutra 0

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

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
Alantolactone
  • (+)-Alantolactone
  • Alant camphor
  • Alantic anhydride
  • Alantolactone
  • Elecampane camphor
546-43-0
DMH2
1206711-14-9

(5) Tocris Compounds for ACVR1C Gene

Compound Action Cas Number
Alantolactone Antiproliferative; induces activin/Smad3 signaling 546-43-0
DMH-1 Selective ALK2 inhibitor 1206711-16-1
DMH2 Type I BMP receptor inhibitor 1206711-14-9
K 02288 Type 1 BMP receptor inhibitor 1431985-92-0
ML 347 Potent and selective ALK1 and ALK2 inhibitor 1062368-49-3

(2) ApexBio Compounds for ACVR1C Gene

Compound Action Cas Number
SB505124 ALK4/ALK5/ALK7 inhibitor 694433-59-5
SB-505124 hydrochloride ALK5/ALK4/ALK7 inhibitor in TGF-β/activin signalling,selective 356559-13-2
genes like me logo Genes that share compounds with ACVR1C: view

Drug Products

Transcripts for ACVR1C Gene

Unigene Clusters for ACVR1C Gene

Activin A receptor, type IC:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ACVR1C
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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).

NURSA nuclear receptor signaling pathways regulating expression of ACVR1C Gene:

ACVR1C

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

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia ACVR1C 33 34
  • 99.8 (n)
cow
(Bos Taurus)
Mammalia ACVR1C 33 34
  • 93.93 (n)
oppossum
(Monodelphis domestica)
Mammalia ACVR1C 34
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACVR1C 33 34
  • 87.93 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ACVR1C 34
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acvr1c 33
  • 86.84 (n)
mouse
(Mus musculus)
Mammalia Acvr1c 33 16 34
  • 86.55 (n)
chicken
(Gallus gallus)
Aves ACVR1C 33 34
  • 73.93 (n)
lizard
(Anolis carolinensis)
Reptilia ACVR1C 34
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acvr1c 33
  • 74.07 (n)
zebrafish
(Danio rerio)
Actinopterygii CABZ01079442.1 34
  • 67 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta babo 34
  • 42 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 50 (a)
OneToMany
Species where no ortholog for ACVR1C was found in the sources mined by GeneCards:
  • 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

Paralogs for ACVR1C Gene

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

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
VAR_041409 A lung squamous cell carcinoma sample
rs1000002620 -- 157,629,513(+) CGTCT(A/G)GTGGT upstream-variant-2KB
rs1000019891 -- 157,583,391(+) TGAAG(-/A)AAAAA intron-variant
rs1000036700 -- 157,589,818(+) GGTAC(A/T)GGTAT intron-variant
rs1000075866 -- 157,591,022(+) TACTA(C/T)ATAAA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv2072n106 CNV deletion 24896259
esv1723038 CNV deletion 17803354
esv2329918 CNV deletion 18987734
esv2477101 CNV deletion 19546169
esv2643096 CNV deletion 19546169
esv2721013 CNV deletion 23290073
esv2721014 CNV deletion 23290073
esv2841457 CNV deletion 24192839
esv3303213 CNV mobile element insertion 20981092
esv3338137 CNV insertion 20981092
esv3381776 CNV insertion 20981092
esv3560409 CNV deletion 23714750
esv4635 CNV loss 18987735
nsv1006061 CNV gain 25217958
nsv1007037 CNV gain 25217958
nsv1011505 CNV gain 25217958
nsv1072038 CNV deletion 25765185
nsv956643 CNV deletion 24416366

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

Human Gene Mutation Database (HGMD)
ACVR1C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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: HGMD and 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. Nodal induces apoptosis and inhibits proliferation in human epithelial ovarian cancer cells via activin receptor-like kinase 7. (PMID: 15531507) Xu G … Peng C (The Journal of clinical endocrinology and metabolism 2004) 3 4 22 60
  2. 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 HJ … Peng C (Biology of reproduction 2003) 3 4 22 60
  3. cDNA cloning, expression studies and chromosome mapping of human type I serine/threonine kinase receptor ALK7 (ACVR1C). (PMID: 12063393) Bondestam J … Ritvos O (Cytogenetics and cell genetics 2001) 3 4 22 60
  4. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 45 60
  5. ALK7 expression is specific for adipose tissue, reduced in obesity and correlates to factors implicated in metabolic disease. (PMID: 19275893) Carlsson LM … Sjöholm K (Biochemical and biophysical research communications 2009) 3 22 60

Products for ACVR1C Gene

Sources for ACVR1C Gene

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