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Aliases for ACVR1 Gene

Aliases for ACVR1 Gene

  • Activin A Receptor Type 1 2 3 5
  • 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 I 3 4
  • EC 2.7.11.30 4 58
  • ACVRLK2 3 4
  • SKR1 3 4
  • Activin A Receptor, Type II-Like Kinase 2 3
  • Hydroxyalkyl-Protein Kinase 3
  • Activin Receptor Type-1 3
  • EC 2.7.11 58
  • ACVR1A 3
  • ACTR-I 4
  • ACTRI 3
  • ALK-2 4
  • TSR-I 4
  • ALK2 3
  • 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 Diffuse Intrinsic Pontine Glioma. Among its related pathways are Akt Signaling and Mesodermal Commitment Pathway. 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 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

Additional gene information for ACVR1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACVR1 Gene

Genomics for ACVR1 Gene

Regulatory Elements for ACVR1 Gene

Enhancers for ACVR1 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
GH02H157410 1.8 FANTOM5 Ensembl ENCODE dbSUPER 13.6 +459.2 459188 11 PKNOX1 ATF1 TBL1XR1 BMI1 BATF YY1 ZNF207 ATF7 ETV6 RUNX3 CYTIP ACVR1 FAM133DP ERMN GPD2 LOC105373711 GC02M157436
GH02H157782 1.5 Ensembl ENCODE dbSUPER 12.1 +90.5 90502 6 HDGF FOXA2 PKNOX1 ATF1 ARNT YY1 TCF12 ZNF766 GATA2 ELK1 FAM133DP ACVR1 RNU6-932P CCDC148 GC02M157769 GC02P157838
GH02H157836 1.4 ENCODE dbSUPER 12 +36.5 36527 6 HNRNPUL1 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ACVR1 PKP4 GC02P157838 GC02P157874
GH02H157896 1.2 Ensembl ENCODE 12.4 -23.0 -23007 3 HDGF ATF1 YBX1 TCF12 GATA2 FOS ATF7 MCM3 CAVIN1 NCOA1 FAM133DP ACVR1 RNU6-932P RNU6-436P ENSG00000270557
GH02H158008 0.9 Ensembl ENCODE 11.7 -133.6 -133570 1 CTCF CEBPB RAD21 NR2F2 TFDP1 MEF2D IKZF1 HNF4G HNF4A ACVR1 RNU6-932P GC02M157986 PTP4A1P1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ACVR1 on UCSC Golden Path with GeneCards custom track

Promoters for ACVR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000124980 62 2401 PKNOX1 SIN3A FEZF1 DMAP1 ZNF766 FOS SP3 SP5 ZHX2 NFYC

Genomic Location for ACVR1 Gene

Chromosome:
2
Start:
157,736,444 bp from pter
End:
157,875,862 bp from pter
Size:
139,419 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; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with FKBP1A. Interacts with FCHO1.

    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 posLast=102102
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for ACVR1 (Activin RIA/ALK-2)
  • Cell Signaling Technology (CST) Antibodies for ACVR1 (ALK2)
  • Santa Cruz Biotechnology (SCBT) Antibodies for ACVR1

Protein Products

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
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for ACVR1 Gene

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

GENATLAS Biochemistry:
activin receptor type 1,member of transforming growth factor beta superfamily
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + [receptor-protein] = ADP + [receptor-protein] phosphate.
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).

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 IDA 12065756
GO:0004675 transmembrane receptor protein serine/threonine kinase activity NAS 8242742
GO:0004702 signal transducer, downstream of receptor, with serine/threonine kinase activity IEA --
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ACVR1
  • Applied Biological Materials Clones for ACVR1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
  • R&D Systems cDNA Clones for ACVR1 (Activin RIA/ALK-2)

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 2
cytosol 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ACVR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IDA 8242742
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0045177 apical part of cell IEA --
GO:0048179 activin receptor complex IDA 8242742
genes like me logo Genes that share ontologies with ACVR1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ACVR1 Gene

Pathways & Interactions for ACVR1 Gene

genes like me logo Genes that share pathways with ACVR1: view

SIGNOR curated interactions for ACVR1 Gene

Activates:
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:0001569 branching involved in blood vessel morphogenesis IEA --
GO:0001701 in utero embryonic development IEA --
GO:0001702 gastrulation with mouth forming second IEA --
GO:0001707 mesoderm formation IEA --
genes like me logo Genes that share ontologies with ACVR1: view

Drugs & Compounds for ACVR1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Simvastatin Approved Pharma Competitive, Inhibitor HMG-CoA reductase inhibitor 528
Warfarin Approved Pharma 493
Manganese Approved Nutra 35
Menadione Approved Nutra 248
6-[4-(2-piperidin-1-ylethoxy)phenyl]-3-pyridin-4-ylpyrazolo[1,5-a]pyrimidine Experimental Pharma Target 0

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

(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

Transcripts for ACVR1 Gene

Unigene Clusters for ACVR1 Gene

Activin A receptor, type I:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ACVR1
  • Applied Biological Materials Clones for ACVR1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
  • R&D Systems cDNA Clones for ACVR1 (Activin RIA/ALK-2)

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
ECgene alternative splicing isoforms for
ACVR1

Expression for ACVR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of ACVR1 Gene:

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(4.3)
  • Nervous system(2.6)
  • Muscle(2.4)
  • Heart(2.2)
  • Kidney(2)

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
Organs:
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

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 33 34
  • 99.61 (n)
dog
(Canis familiaris)
Mammalia ACVR1 33 34
  • 93.98 (n)
cow
(Bos Taurus)
Mammalia ACVR1 33 34
  • 93.12 (n)
mouse
(Mus musculus)
Mammalia Acvr1 33 16 34
  • 90.64 (n)
rat
(Rattus norvegicus)
Mammalia Acvr1 33
  • 89.46 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ACVR1 34
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACVR1 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACVR1 33 34
  • 77.53 (n)
lizard
(Anolis carolinensis)
Reptilia ACVR1 34
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acvr1 33
  • 73.87 (n)
Str.6508 33
African clawed frog
(Xenopus laevis)
Amphibia xALK-2 33
zebrafish
(Danio rerio)
Actinopterygii acvr1l 33 34
  • 65.61 (n)
alk8 33
fruit fly
(Drosophila melanogaster)
Insecta sax 35 33 34
  • 57.11 (n)
babo 35
  • 48 (a)
tkv 35
  • 44 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007729 33
  • 56.02 (n)
worm
(Caenorhabditis elegans)
Secernentea daf-1 35
  • 39 (a)
sma-6 35
  • 39 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 45 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8463 33
Species where no ortholog for ACVR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for ACVR1 Gene

Paralogs for ACVR1 Gene

genes like me logo Genes that share paralogs with ACVR1: view

Variants for ACVR1 Gene

Sequence variations from dbSNP and Humsavar for ACVR1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs121912678 Pathogenic, Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] 157,774,114(-) GGCTC(A/C/G)CCAGA reference, missense
rs121912679 Pathogenic, Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] 157,761,077(-) TTCAG(A/G)CCTGG reference, missense
rs387906588 Pathogenic, Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] 157,766,005(-) CCCAA(A/G/T)GGAAA reference, missense
rs387906589 Pathogenic, Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] 157,766,004(-) CCAAG(A/G)GAAAC reference, missense
rs387906590 Pathogenic, Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] 157,761,020(-) TCCCC(C/G)TGTGG reference, missense

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)

Relevant External Links for ACVR1 Gene

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

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

Disorders for ACVR1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ACVR1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
fibrodysplasia ossificans progressiva
  • myositis ossificans progressiva
diffuse intrinsic pontine glioma
  • dipg
osseous heteroplasia, progressive
  • fibrodysplasia ossificans progressiva
ankylosis
craniometaphyseal dysplasia
  • craniometaphyseal dysplasia, autosomal dominant
- elite association - COSMIC cancer census association via MalaCards
Search ACVR1 in MalaCards View complete list of genes associated with diseases

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 mutations affecting the gene represented in this entry.

Relevant External Links for ACVR1

Genetic Association Database (GAD)
ACVR1
Human Genome Epidemiology (HuGE) Navigator
ACVR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACVR1
genes like me logo Genes that share disorders with ACVR1: view

No data available for Genatlas for ACVR1 Gene

Publications for ACVR1 Gene

  1. 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 60
  2. 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 60
  3. 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 45 60
  4. 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 60
  5. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M … Tokunaga K (Human genetics 2010) 3 45 60

Products for ACVR1 Gene

  • Addgene plasmids for ACVR1

Sources for ACVR1 Gene

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