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Aliases for ACVR1C Gene

Aliases for ACVR1C Gene

  • Activin A Receptor, Type IC 2 3
  • ALK7 3 4 6
  • Activin Receptor-Like Kinase 7 3 4
  • Activin Receptor Type IC 3 4
  • EC 2.7.11.30 4 64
  • ACTR-IC 3 4
  • ALK-7 3 4
  • Activin Receptor Type-1C 3
  • EC 2.7.11 64
  • ACVRLK7 3

External Ids for ACVR1C Gene

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 IC) is a Protein Coding gene. Diseases associated with ACVR1C include myositis ossificans. Among its related pathways are Signaling by GPCR and L1CAM interactions. GO annotations related to this gene include transforming growth factor beta-activated receptor activity and nodal binding. 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

Genomic Location for ACVR1C Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ACVR1C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACVR1C Gene

Regulatory Elements 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

No Post-translational modifications

Other Protein References for ACVR1C Gene

Domains for ACVR1C Gene

UniProtKB/Swiss-Prot:

ACV1C_HUMAN
Domain:
  • Contains 1 GS domain.:
    • Q8NER5
  • Contains 1 protein kinase domain.:
    • Q8NER5
Family:
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.:
    • Q8NER5
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:0004672 protein kinase activity --
GO:0004675 transmembrane receptor protein serine/threonine kinase activity --
GO:0004702 receptor signaling protein serine/threonine kinase activity IEA --
GO:0004713 protein tyrosine kinase activity --
GO:0005024 transforming growth factor beta-activated receptor activity --
genes like me logo Genes that share ontologies with ACVR1C: view
genes like me logo Genes that share phenotypes with ACVR1C: view

No data available for Animal Models , Transcription Factor Targeting 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 1
cytosol 1
extracellular 1
lysosome 1
mitochondrion 1
nucleus 1
peroxisome 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 --
GO:0048179 activin receptor complex IDA 15531507
genes like me logo Genes that share ontologies with ACVR1C: view

Pathways 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 Qiagen pathway for ACVR1C Gene
1 BioSystems pathway for ACVR1C Gene

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:0009749 response to glucose IEA --
GO:0019915 lipid storage IEA --
GO:0023014 signal transduction by protein phosphorylation IEA --
genes like me logo Genes that share ontologies with ACVR1C: view

Compounds for ACVR1C Gene

(2) Tocris Compounds for ACVR1C Gene

Compound Action Cas Number
Alantolactone Antiproliferative; induces activin/SMAD3 signaling [546-43-0]
DMH-1 BMP inhibitor; selectively inhibits ALK2 [1206711-16-1]

(4) HMDB Compounds for ACVR1C Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Magnesium
  • Magnesium
7439-95-4
Manganese
  • manganese
7439-96-5

(2) Novoseek inferred chemical compound relationships for ACVR1C Gene

Compound -log(P) Hits PubMed IDs
threonine 62.6 3
serine 42.2 2
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) (15.3), Adipose - Subcutaneous (10.2), and Breast - Mammary Tissue (5.4).

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 expressions with ACVR1C: view

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 36
  • 99.8 (n)
  • 99.8 (a)
ACVR1C 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ACVR1C 36
  • 93.93 (n)
  • 98.07 (a)
ACVR1C 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACVR1C 36
  • 87.93 (n)
  • 91.86 (a)
ACVR1C 37
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acvr1c 36
  • 86.55 (n)
  • 94.27 (a)
Acvr1c 16
Acvr1c 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACVR1C 37
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACVR1C 37
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acvr1c 36
  • 86.84 (n)
  • 94.69 (a)
chicken
(Gallus gallus)
Aves ACVR1C 36
  • 73.93 (n)
  • 84.19 (a)
ACVR1C 37
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACVR1C 37
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acvr1c 36
  • 74.07 (n)
  • 79.49 (a)
zebrafish
(Danio rerio)
Actinopterygii CABZ01079442.1 37
  • 67 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta babo 37
  • 42 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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

Selected 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 MAF
rs1349863 -- 157,601,014(-) AAATA(C/G)TTATG intron-variant
rs1454325 -- 157,601,241(-) CTCCC(A/G)GGTTC intron-variant
rs1598144 -- 157,619,028(-) tatta(C/T)tgaag intron-variant
rs1823880 -- 157,623,995(+) TATAC(C/T)TGAAA intron-variant
rs1902032 -- 157,609,761(-) cttat(A/G)tcaga intron-variant

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

Relevant External Links for ACVR1C Gene

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

Disorders for ACVR1C Gene

(1) MalaCards Diseases for ACVR1C Gene

Search for ACVR1C Gene in MalaCards »

(1) University of Copenhagen DISEASES for ACVR1C Gene

Relevant External Links for ACVR1C

Genetic Association Database (GAD)
ACVR1C
Human Genome Epidemiology (HuGE) Navigator
ACVR1C
genes like me logo Genes that share disorders with ACVR1C: view

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

Publications for ACVR1C Gene

  1. cDNA cloning, expression studies and chromosome mapping of human type I serine/threonine kinase receptor ALK7 (ACVR1C). (PMID: 12063393) Bondestam J. … Ritvos O. (Cytogenet. Cell Genet. 2001) 3 4 23
  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 H.J. … Peng C. (Biol. Reprod. 2003) 3 4 23
  3. Nodal induces apoptosis and inhibits proliferation in human epithelial ovarian cancer cells via activin receptor-like kinase 7. (PMID: 15531507) Xu G. … Peng C. (J. Clin. Endocrinol. Metab. 2004) 3 4 23
  4. 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
  5. Activin receptor-like kinase-7 induces apoptosis through activation of MAPKs in a Smad3-dependent mechanism in hepatoma cells. (PMID: 15107418) Kim B.C. … Kim S.J. (J. Biol. Chem. 2004) 3 23

Products for ACVR1C Gene

Sources for ACVR1C Gene

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