Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins... See more...

Aliases for ACVR1 Gene

Aliases for ACVR1 Gene

  • Activin A Receptor Type 1 2 3 5
  • SKR1 2 3 4
  • Serine/Threonine-Protein Kinase Receptor R1 3 4
  • TGF-B Superfamily Receptor Type I 3 4
  • Activin Receptor-Like Kinase 2 3 4
  • Activin A Receptor, Type I 2 3
  • Activin Receptor Type-1 3 4
  • Activin Receptor Type I 3 4
  • EC 2.7.11.30 4 50
  • ACVRLK2 3 4
  • ACVR1A 2 3
  • ALK2 2 3
  • Activin A Receptor, Type II-Like Kinase 2 3
  • Hydroxyalkyl-Protein Kinase 3
  • EC 2.7.11 50
  • ACTR-I 4
  • ACTRI 3
  • ACVR1 5
  • ALK-2 4
  • TSR-I 4
  • TSRI 3
  • FOP 3

External Ids for ACVR1 Gene

Previous HGNC Symbols for ACVR1 Gene

  • ACVRLK2

Previous GeneCards Identifiers for ACVR1 Gene

  • GC02M156524
  • GC02M157121
  • GC02M158557
  • GC02M158795
  • GC02M158418
  • GC02M158301
  • GC02M158594
  • GC02M150478

Summaries for ACVR1 Gene

Entrez Gene Summary for ACVR1 Gene

  • Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq, Jul 2008]

CIViC Summary for ACVR1 Gene

GeneCards Summary for ACVR1 Gene

ACVR1 (Activin A Receptor Type 1) is a Protein Coding gene. Diseases associated with ACVR1 include Fibrodysplasia Ossificans Progressiva and Myositis Ossificans. Among its related pathways are Signaling pathways regulating pluripotency of stem cells and mTOR Pathway. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein kinase activity. An important paralog of this gene is ACVRL1.

UniProtKB/Swiss-Prot Summary for ACVR1 Gene

  • On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for activin. May be involved for left-right pattern formation during embryogenesis (By similarity).

Gene Wiki entry for ACVR1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACVR1 Gene

Genomics for ACVR1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ACVR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J157874 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.6 629 3.8 SP1 NCOR1 MYC IKZF1 ZNF592 NFIC ZIC2 NONO REST SMAD5 ACVR1 ENSG00000270557 HSALNG0019855 HSALNG0019856 LOC105373714 UPP2 ENSG00000234584 ACVR1C
GH02J157836 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas dbSUPER 12 +37.0 36994 6.6 NCOR1 IKZF1 ZNF600 SSRP1 JUND ZNF580 ZNF592 ZMYM3 KLF9 CEBPA FAM133DP ACVR1 PKP4 HSALNG0019855 ENSG00000234584 ACVR1C
GH02J157782 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 12.1 +90.9 90935 6.3 MYC IKZF1 NCOR1 ZNF592 NFIC YY1 NONO REST HES1 MBD2 FAM133DP ACVR1 RNU6-932P CCDC148 ENSG00000234584 HSALNG0019855 ACVR1C
GH02J157896 Enhancer 0.9 ENCODE 12.4 -22.5 -22539 3.8 MYC IKZF1 NCOR1 JUND ZNF592 NFIC HES1 MCM3 TAF9B NBN FAM133DP ACVR1 RNU6-932P RF00026-563 RNU6-436P LOC105373714 UPP2 CCDC148
GH02J158008 Enhancer 0.9 Ensembl ENCODE 11.7 -134.2 -134195 3.4 ZNF654 ZNF592 YY1 REST TRIM22 CTCF RXRA RAD21 SMC3 HNF4A ACVR1 RNU6-932P HSALNG0019862 PTP4A1P1 HSALNG0019860 UPP2 CCDC148
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACVR1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACVR1

Top Transcription factor binding sites by QIAGEN in the ACVR1 gene promoter:
  • Brachyury
  • COMP1
  • FOXL1
  • GATA-3
  • Sox5
  • SRY

Genomic Locations for ACVR1 Gene

Latest Assembly
chr2:157,736,444-157,876,330
(GRCh38/hg38)
Size:
139,887 bases
Orientation:
Minus strand

Previous Assembly
chr2:158,592,958-158,732,842
(GRCh37/hg19 by Entrez Gene)
Size:
139,885 bases
Orientation:
Minus strand

chr2:158,592,958-158,732,374
(GRCh37/hg19 by Ensembl)
Size:
139,417 bases
Orientation:
Minus strand

Genomic View for ACVR1 Gene

Genes around ACVR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACVR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACVR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACVR1 Gene

Proteins for ACVR1 Gene

  • Protein details for ACVR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q04771-ACVR1_HUMAN
    Recommended name:
    Activin receptor type-1
    Protein Accession:
    Q04771

    Protein attributes for ACVR1 Gene

    Size:
    509 amino acids
    Molecular mass:
    57153 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with FKBP1A (PubMed:22484487, Ref.7). Interacts with FCHO1 (PubMed:22484487). Interacts with CLU (PubMed:8555189).

    Three dimensional structures from OCA and Proteopedia for ACVR1 Gene

neXtProt entry for ACVR1 Gene

Selected DME Specific Peptides for ACVR1 Gene

Q04771:
  • EYGTIEGLI
  • NILGFIASDMTSR
  • GSGSGLPFLVQRTVARQ
  • HRDLKSKNILVKKNG
  • KVVCVDQQ
  • RVGTKRYM
  • KPAIAHRD
  • IADLGLA
  • QAVECCQG
  • VAVKIFSSR
  • EIFGTQGK
  • RPNIPNRW
  • DCFDSYKRVDIWAFGLVLWEVARRMVSNGIVEDYKPPFYD
  • SGSGSGLP
  • ASGLAHLH
  • VPNDPSFEDM
  • VYQKGCFQVYEQGKMTCKTPPSP
  • LPTKGKSFPG
  • ECVGKGRYGEVWRG
  • SSTQLWLITHYHE
  • QNFHLEVGLIILSVVFAVCL
  • RYMAPEVL
  • YMAPEVL
  • CCIADLGLA

Post-translational modifications for ACVR1 Gene

  • Glycosylation at Asn102
  • Modification sites at PhosphoSitePlus

Domains & Families for ACVR1 Gene

Gene Families for ACVR1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ACVR1 Gene

Suggested Antigen Peptide Sequences for ACVR1 Gene

GenScript: Design optimal peptide antigens:
  • TGF-B superfamily receptor type I (ACVR1_HUMAN)
  • Activin A receptor, type I, isoform CRA_b (D3DPA4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q04771

UniProtKB/Swiss-Prot:

ACVR1_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 ACVR1: view

Function for ACVR1 Gene

Molecular function for ACVR1 Gene

UniProtKB/Swiss-Prot Function:
On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for activin. May be involved for left-right pattern formation during embryogenesis (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[receptor-protein] = ADP + H(+) + O-phospho-L-threonyl-[receptor-protein]; Xref=Rhea:RHEA:44880, Rhea:RHEA-COMP:11024, Rhea:RHEA-COMP:11025, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.30;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[receptor-protein] = ADP + H(+) + O-phospho-L-seryl-[receptor-protein]; Xref=Rhea:RHEA:18673, Rhea:RHEA-COMP:11022, Rhea:RHEA-COMP:11023, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.30;.
GENATLAS Biochemistry:
activin receptor type 1,member of transforming growth factor beta superfamily

Enzyme Numbers (IUBMB) for ACVR1 Gene

Phenotypes From GWAS Catalog for ACVR1 Gene

Gene Ontology (GO) - Molecular Function for ACVR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IDA 19736306
GO:0004674 protein serine/threonine kinase activity IEA,IDA 12065756
GO:0004675 transmembrane receptor protein serine/threonine kinase activity IEA,NAS 8242742
GO:0005025 transforming growth factor beta receptor activity, type I IBA 21873635
genes like me logo Genes that share ontologies with ACVR1: view
genes like me logo Genes that share phenotypes with ACVR1: view

Human Phenotype Ontology for ACVR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ACVR1 Gene

MGI Knock Outs for ACVR1:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACVR1

Clone products for research

  • Addgene plasmids for ACVR1

No data available for Transcription Factor Targets and HOMER Transcription for ACVR1 Gene

Localization for ACVR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACVR1 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 ACVR1 gene
Compartment Confidence
plasma membrane 5
extracellular 3
nucleus 3
cytoskeleton 2
endoplasmic reticulum 2
cytosol 2
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Nucleoli (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ACVR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA 21873635
GO:0005887 integral component of plasma membrane IDA 8242742
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043235 receptor complex IBA 21873635
genes like me logo Genes that share ontologies with ACVR1: view

Pathways & Interactions for ACVR1 Gene

PathCards logo

SuperPathways for ACVR1 Gene

SuperPathway Contained pathways
1 Apoptosis Pathway
2 Akt Signaling
.60
.60
.55
3 PEDF Induced Signaling
.47
4 ALK1 signaling events
5 Wnt / Hedgehog / Notch
genes like me logo Genes that share pathways with ACVR1: view

Pathways by source for ACVR1 Gene

8 Qiagen pathways for ACVR1 Gene
  • Akt Signaling
  • Antioxidant Action of Vitamin-C
  • BMP Pathway
  • Factors Promoting Cardiogenesis in Vertebrates
  • Molecular Mechanisms of Cancer
1 Cell Signaling Technology pathway for ACVR1 Gene
1 GeneTex pathway for ACVR1 Gene

SIGNOR curated interactions for ACVR1 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for ACVR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle IMP 9884026
GO:0001525 angiogenesis IBA 21873635
GO:0001569 branching involved in blood vessel morphogenesis IEA --
GO:0001701 in utero embryonic development IEA --
GO:0001702 gastrulation with mouth forming second IEA --
genes like me logo Genes that share ontologies with ACVR1: view

Drugs & Compounds for ACVR1 Gene

(24) Drugs for ACVR1 Gene - From: DrugBank, ClinicalTrials, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
Danazol Approved Pharma 32
Iron Approved Pharma 1663
Magnesium Approved, Experimental, Investigational Pharma 0
Simvastatin Approved Pharma HMG-CoA reductase inhibitor 592

(2) Additional Compounds for ACVR1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0

(2) ApexBio Compounds for ACVR1 Gene

Compound Action Cas Number
DMH-1 Selective BMP ALK2 receptor 1206711-16-1
LDN-193189 ALK inhibitor,potent and selective 1062368-24-4
genes like me logo Genes that share compounds with ACVR1: view

Drug products for research

Transcripts for ACVR1 Gene

mRNA/cDNA for ACVR1 Gene

7 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACVR1

Clone products for research

  • Addgene plasmids for ACVR1

Alternative Splicing Database (ASD) splice patterns (SP) for ACVR1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b
SP1:
SP2: - -
SP3: - -
SP4: - - -

Relevant External Links for ACVR1 Gene

GeneLoc Exon Structure for
ACVR1

Expression for ACVR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACVR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ACVR1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (46.9) and Placenta (13.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ACVR1 Gene



Protein tissue co-expression partners for ACVR1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACVR1

SOURCE GeneReport for Unigene cluster for ACVR1 Gene:

Hs.470316

mRNA Expression by UniProt/SwissProt for ACVR1 Gene:

Q04771-ACVR1_HUMAN
Tissue specificity: Expressed in normal parenchymal cells, endothelial cells, fibroblasts and tumor-derived epithelial cells.

Evidence on tissue expression from TISSUES for ACVR1 Gene

  • Lung(4.4)
  • Nervous system(3)
  • Heart(2.8)
  • Muscle(2.8)
  • Kidney(2.6)
  • Liver(2.5)
  • Skin(2.2)
  • Bone(2.2)
  • Blood(2.2)
  • Thyroid gland(2.2)
  • Intestine(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ACVR1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • ear
  • head
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • outer ear
  • skull
  • tooth
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
Limb:
  • ankle
  • digit
  • elbow
  • femur
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • thigh
  • toe
  • upper limb
  • wrist
General:
  • hair
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with ACVR1: view

Primer products for research

No data available for mRNA differential expression in normal tissues for ACVR1 Gene

Orthologs for ACVR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ACVR1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ACVR1 29 30
  • 99.61 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ACVR1 29 30
  • 93.98 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ACVR1 29 30
  • 93.12 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Acvr1 29 16 30
  • 90.64 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Acvr1 29
  • 89.46 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia ACVR1 30
  • 85 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ACVR1 30
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ACVR1 29 30
  • 77.53 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ACVR1 30
  • 75 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia acvr1 29
  • 73.87 (n)
Str.6508 29
African clawed frog
(Xenopus laevis)
Amphibia xALK-2 29
Zebrafish
(Danio rerio)
Actinopterygii acvr1l 29 30
  • 65.61 (n)
OneToOne
alk8 29
Fruit Fly
(Drosophila melanogaster)
Insecta sax 29 30 31
  • 57.11 (n)
OneToMany
babo 31
  • 48 (a)
tkv 31
  • 44 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007729 29
  • 56.02 (n)
Worm
(Caenorhabditis elegans)
Secernentea daf-1 31
  • 39 (a)
sma-6 31
  • 39 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 45 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.8463 29
Species where no ortholog for ACVR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)

Evolution for ACVR1 Gene

ENSEMBL:
Gene Tree for ACVR1 (if available)
TreeFam:
Gene Tree for ACVR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACVR1: view image
Alliance of Genome Resources:
Additional Orthologs for ACVR1

Paralogs for ACVR1 Gene

(10) SIMAP similar genes for ACVR1 Gene using alignment to 9 proteins:

  • ACVR1_HUMAN
  • C9J1R3_HUMAN
  • C9JHJ7_HUMAN
  • C9JW28_HUMAN
  • D3DPA4_HUMAN
  • F5GY91_HUMAN
  • L8E7H6_HUMAN
  • Q53SF4_HUMAN
  • Q53SV1_HUMAN
genes like me logo Genes that share paralogs with ACVR1: view

Variants for ACVR1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACVR1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
871823 Uncertain Significance: not provided 157,774,097(-) C/G
NM_001111067.4(ACVR1):c.634G>C (p.Glu212Gln)
MISSENSE
871824 Uncertain Significance: not provided 157,778,163(-) T/G
NM_001111067.4(ACVR1):c.511A>C (p.Ile171Leu)
MISSENSE
871825 Uncertain Significance: not provided 157,778,313(-) G/A
NM_001111067.4(ACVR1):c.361C>T (p.His121Tyr)
MISSENSE
892813 Uncertain Significance: Progressive myositis ossificans 157,765,958(-) C/T
NM_001111067.4(ACVR1):c.1029G>A (p.Leu343=)
SYNONYMOUS
893589 Uncertain Significance: Progressive myositis ossificans 157,736,779(-) T/C
NM_001111067.4(ACVR1):c.*752A>G
THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ACVR1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ACVR1 Gene

Variant ID Type Subtype PubMed ID
dgv2073n106 CNV deletion 24896259
esv1694256 CNV deletion 17803354
esv2223769 CNV deletion 18987734
esv2616379 CNV deletion 19546169
esv2721015 CNV deletion 23290073
esv3058 CNV loss 18987735
esv3560411 CNV deletion 23714750
esv3593065 CNV loss 21293372
esv6111 CNV loss 19470904
esv997183 CNV deletion 20482838
nsv1072460 CNV deletion 25765185
nsv1072986 CNV deletion 25765185
nsv1148977 CNV deletion 26484159
nsv527541 CNV loss 19592680
nsv583439 CNV loss 21841781
nsv956655 CNV deletion 24416366

Variation tolerance for ACVR1 Gene

Residual Variation Intolerance Score: 11.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.55; 30.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACVR1 Gene

Human Gene Mutation Database (HGMD)
ACVR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACVR1
Leiden Open Variation Database (LOVD)
ACVR1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACVR1 Gene

Disorders for ACVR1 Gene

MalaCards: The human disease database

(33) MalaCards diseases for ACVR1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
fibrodysplasia ossificans progressiva
  • fop
myositis ossificans
  • myisitis ossificans
brain stem glioma
  • brainstem neuroglial tumor
ankylosis
osseous heteroplasia, progressive
  • poh
- elite association - COSMIC cancer census association via MalaCards
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UniProtKB/Swiss-Prot

ACVR1_HUMAN
  • Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]: A rare autosomal dominant connective tissue disorder resulting in skeletal malformations and progressive extraskeletal ossification. Heterotopic ossification begins in childhood and can be induced by trauma or may occur without warning. Bone formation is episodic and progressive, leading to a debilitating ankylosis of all major joints of the axial and appendicular skeleton, rendering movement impossible. {ECO:0000269 PubMed:16642017, ECO:0000269 PubMed:19085907, ECO:0000269 PubMed:19330033}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for ACVR1

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Publications for ACVR1 Gene

  1. Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. (PMID: 19085907) Kaplan FS … Shore EM (Human mutation 2009) 3 4 22 72
  2. Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity. (PMID: 8397373) ten Dijke P … Miyazono K (Oncogene 1993) 2 3 4 22
  3. Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients. (PMID: 19330033) Petrie KA … Triffitt JT (PloS one 2009) 3 4 72
  4. Variants in the ACVR1 gene are associated with AMH levels in women with polycystic ovary syndrome. (PMID: 18854405) Kevenaar ME … Visser JA (Human reproduction (Oxford, England) 2009) 3 22 40
  5. A widely expressed transmembrane serine/threonine kinase that does not bind activin, inhibin, transforming growth factor beta, or bone morphogenic factor. (PMID: 8389764) Matsuzaki K … Kan M (The Journal of biological chemistry 1993) 3 4 22

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