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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ACVR1 Gene

protein-coding GIFtS: 71
GCID: GC02M158594

activin A receptor, type I

(Previous symbol: ACVRLK2)

Explore 39 diseases affiliated with
ACVR1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Activin A Receptor, Type I¹ ²		FOP² ⁵
ACVRLK2¹ ² ³ ⁵		ACTRI²
SKR1¹ ² ³		TSRI²
ALK2¹ ² ⁵		Activin A Receptor, Type II-Like Kinase 2²
ACVR1A¹ ²		Activin Receptor Type-1²
Activin Receptor Type I² ³		Hydroxyalkyl-Protein Kinase²
Activin Receptor-Like Kinase 2² ³		ACTR-I³
Serine/Threonine-Protein Kinase Receptor R1² ³		ALK-2³
TGF-B Superfamily Receptor Type I² ³		TSR-I³
EC 2.7.11.30³ ⁸		EC 2.7.11⁸

External Ids:	HGNC: 171¹	Entrez Gene: 90²	Ensembl: ENSG00000115170⁷	OMIM: 102576⁵	UniProtKB: Q04771³

Export aliases for ACVR1 gene to outside databases

Previous GC identifers: GC02M156524 GC02M157121 GC02M158557 GC02M158795 GC02M158418 GC02M158301 GC02M150478

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ACVR1:

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)

UniProtKB/Swiss-Prot: ACVR1_HUMAN, Q04771

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)

Gene Wiki entry for ACVR1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_005403.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ACVR1 gene promoter:
Sox5 SRY GATA-3 Brachyury COMP1 FOXL1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ACVR1 promoter sequence

Search SABiosciences Chromatin IP Primers for ACVR1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACVR1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q23-q24 Ensembl cytogenetic band: 2q24.1 HGNC cytogenetic band: 2q23-q24

ACVR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACVR1 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M158594: view genomic region (about GC identifiers)

Start:	158,592,958 bp from pter	End:	158,732,374 bp from pter
Size:	139,417 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ACVR1_HUMAN, Q04771 (See protein sequence)

Recommended Name: Activin receptor type-1 precursor

Size: 509 amino acids; 57153 Da

Cofactor: Magnesium or manganese (By similarity)

Subunit: Interacts with FKBP1A. Interacts with FCHO1

Subcellular location: Membrane; Single-pass type I membrane protein

5 PDB 3D structures from and Proteopedia for ACVR1:

3H9R (3D)

3MTF (3D)

3OOM (3D)

3Q4U (3D)

4DYM (3D)

Explore the universe of human proteins at neXtProt for ACVR1: NX_Q04771

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q04771

4/24 DME Specific Peptides for ACVR1 (Q04771) (see all 24)

YMAPEVL

IADLGLA

RPNIPNRW

SGSGSGLP

ACVR1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001096.1 NP_001104537.1

ENSEMBL proteins:

ENSP00000263640 ENSP00000387273 ENSP00000387127 ENSP00000403006 ENSP00000401189

ENSP00000440091 ENSP00000400767 ENSP00000399322 ENSP00000405004

Human Recombinant Protein Products for ACVR1:

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	Novus Biologicals ACVR1 Proteins Novus Biologicals ACVR1 Lysates
	Sino Biological Recombinant Protein for ACVR1
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for ACVR1

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005887	integral to plasma membrane	IDA	8242742
GO:0045177	apical part of cell	IEA	--
GO:0048179	activin receptor complex	IDA	8242742

ACVR1 for ontologies About GeneDecksing

ACVR1 Antibody Products:

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	GenScript ACVR1-Activity-based Kinase Assay for Compound Screening
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for ACVR1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ACVR1 for domains About GeneDecksing

5/7 InterPro domains/families (see all 7):

IPR017441 Protein_kinase_ATP_BS

IPR011009 Kinase-like_dom

IPR008271 Ser/Thr_kinase_AS

IPR003605 TGF_beta_rcpt_GS

IPR000472 Activin_rcpt

Graphical View of Domain Structure for InterPro Entry Q04771

ProtoNet protein and cluster: Q04771

1 Blocks protein family: IPB000472 Domain in TGF-beta receptor/activin receptor

UniProtKB/Swiss-Prot: ACVR1_HUMAN, Q04771

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

Similarity: Contains 1 GS domain

Similarity: Contains 1 protein kinase domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: ACVR1_HUMAN, Q04771

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)

Catalytic activity: ATP + [receptor-protein] = ADP + [receptor-protein] phosphate

Genatlas biochemistry entry for ACVR1:

activin receptor type 1,member of transforming growth factor beta superfamily

Enzyme Numbers (IUBMB): EC 2.7.11.30¹ ² EC 2.7.11²

Gene Ontology (GO): 5/15 molecular function terms (GO ID links to tree view) (see all 15): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
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	RCA	8242742
GO:0004702	receptor signaling protein serine/threonine kinase activity	IEA	--
GO:0005025	transforming growth factor beta receptor activity, type I	IEA	--

ACVR1 for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for ACVR1:

Decreased substrate adherent c

Stronger migration

11 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Acvr1):

behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary
embryogenesis	growth/size	hearing/vestibular/ear	mortality/aging	nervous system
skeleton

ACVR1 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for ACVR1: Acvr1^tm1Bhr Acvr1^tm1.1Vk Acvr1^tm1Enl

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ACVR1

miRNA Products:		miRTarBase miRNAs that target ACVR1: hsa-mir-197 (MIRT000216)

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		8/57 QIAGEN miScript miRNA Assays for microRNAs that regulate ACVR1 (see all 57):
		hsa-miR-100* hsa-miR-300 hsa-miR-30d hsa-miR-301a hsa-miR-519a hsa-miR-570 hsa-miR-30a hsa-miR-186

		SwitchGear 3'UTR luciferase reporter plasmid: ACVR1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACVR1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/13 super-pathways (see all 13) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Apoptosis Pathway

	Apoptosis Pathway	1.00			Akt Pathway	0.39
	NF-kappaB Pathway	0.45

Akt Signaling

	Akt Signaling	1.00			Tec Kinases Signaling	0.55
	p38 Signaling	0.60

PEDF Induced Signaling

STAT3 Pathway

0.47

Cytokine-cytokine receptor interaction

0.26

TGF-beta/Smad Signaling

TGF-beta/Smad Signaling

1.00

ALK1 pathway

ALK1 pathway

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

5/8 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ACVR1 (see all 8)

	STAT3 Pathway
	Factors Promoting Cardiogenesis in Vertebrates
	Molecular Mechanisms of Cancer
	Antioxidant Action of Vitamin-C
	Tec Kinases Signaling

1 Cell Signaling Technology (CST) Pathway for ACVR1

TGF-beta/Smad Signaling

4 Tocris Bioscience Pathways for ACVR1

	Akt Pathway
	Apoptosis Pathway
	TGF-beta Pathway
	NF-kappaB Pathway

3 BioSystems Pathways for ACVR1

	ALK1 signaling events
	ALK2 signaling events
	ALK1 pathway

2 Kegg Pathways (Kegg details for ACVR1):

	Cytokine-cytokine receptor interaction
	TGF-beta signaling pathway

ACVR1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for ACVR1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/125 Interacting proteins for ACVR1 (Q04771^{2, 3} ENSP00000263640⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 125)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UBA52	P62987³, ENSP00000388107⁴	I2D: score=5 STRING: ENSP00000388107
NRAS	P01111³, ENSP00000358548⁴	I2D: score=4 STRING: ENSP00000358548
PAK1	Q13153³, ENSP00000278568⁴	I2D: score=4 STRING: ENSP00000278568
PLEKHB1	Q9UF11³, ENSP00000346127⁴	I2D: score=4 STRING: ENSP00000346127
CDK14	O94921³, ENSP00000265741⁴	I2D: score=3 STRING: ENSP00000265741

About this table

Gene Ontology (GO): 5/41 biological process terms (GO ID links to tree view) (see all 41): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000082	G1/S transition of mitotic cell cycle	IMP	9884026
GO:0001569	patterning of blood vessels	IEA	--
GO:0001655	urogenital system development	IEA	--
GO:0001701	in utero embryonic development	IEA	--
GO:0001702	gastrulation with mouth forming second	IEA	--

ACVR1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ACVR1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ACVR1

8 HMDB Compounds for ACVR1 About this table

Compound	Synonyms	CAS #	PubMed Ids
ADP	adenosindiphosphorsaeure (see all 8)	58-64-0	--
Adenosine triphosphate	5'-(tetrahydrogen triphosphate) Adenosine (see all 24)	56-65-5	--
Calcium	Ca (see all 2)	7440-70-2	--
Magnesium	Magnesium (see all 2)	7439-95-4	--
Manganese	manganese	7439-96-5	--
Menadione	Vitamin K3: 1,4-Dihydro-1,4-dioxo-2-methylnaphthalene (see all 49)	58-27-5	--
Simvastatin	(+)-Simvastatin (see all 28)	79902-63-9	--
Warfarin	(phenyl-1 acetyl-2 ethyl) 3-hydroxy-4 coumarin (see all 105)	81-81-2	--

2 DrugBank Compounds for ACVR1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Adenosine triphosphate	5'-ATP (see all 8)	56-65-5	target	--	17139284 17016423
6-[4-(2-piperidin-1-ylethoxy)phenyl]-3-pyridin-4-ylpyrazolo[1,5-a]pyrimidine	--	--	target	--	10592235

3 Novoseek chemical compound relationships for ACVR1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
threonine	64.8	5	8242742 (1), 7791754 (1), 8389764 (1), 15621726 (1)
serine	52.2	6	8242742 (1), 7791754 (1), 8389764 (1), 15621726 (1) (see all 5)
oligonucleotide	0	1	8389764 (1)

Search CenterWatch for drugs/clinical trials and news about ACVR1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ACVR1 gene (2 alternative transcripts):

NM_001105.4 NM_001111067.2

Unigene Cluster for ACVR1:

Activin A receptor, type I

Hs.470316 [show with all ESTs]

Unigene Representative Sequence: BC036748

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000263640(uc002tzm.3 uc002tzn.3) ENST00000409283 ENST00000410057

ENST00000487456 ENST00000412025 ENST00000440523 ENST00000539637 ENST00000424669

ENST00000413751 ENST00000434821(uc010fog.2)

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		hsa-miR-100* hsa-miR-300 hsa-miR-30d hsa-miR-301a hsa-miR-519a hsa-miR-570 hsa-miR-30a hsa-miR-186

		SwitchGear 3'UTR luciferase reporter plasmid: ACVR1 3' UTR sequence

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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ACVR1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACVR1

Additional cDNA sequence:

AK297765.1 AK313630.1 BC033867.1 BC036748.1 L02911.1 Z22534.1

10 DOTS entries:

DT.443257 DT.100749946 DT.91838442 DT.91760723 DT.100749947 DT.97767836 DT.97769140 DT.120984794

DT.40220054 DT.97804988

24/137 AceView cDNA sequences (see all 137):

BM703959 AI520721 BI966674 BC036748 AI623705 AA298554 H96913 AI493854

R20290 BU689543 D58183 AW237556 W67515 AI087081 BM851122 CD655050

BM545650 AI587200 H93219 AI631189 AA378197 T29135 AW613513 AW029054

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for ACVR1 About this scheme

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

ECgene alternative splicing isoforms for ACVR1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ACVR1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGCTGATGTT

About this image

ACVR1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/15 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 15)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Autopod Epiphyseal End

Bone, Cartilage

Bone, Cartilage

Bone, Cartilage

Bone, Cartilage

Bone, Cartilage

Bone, Cartilage

Bone, Cartilage

Stylopod Epiphyseal End

Bone, Cartilage

Bone, Cartilage

Bone, Cartilage

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Extra-embryonic endoderm cells (Fetal Stem / Progenitor Cell)

Extraembryonic Tissues

See ACVR1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ACVR1

SOURCE GeneReport for Unigene cluster: Hs.470316

UniProtKB/Swiss-Prot: ACVR1_HUMAN, Q04771

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

cells

SABiosciences Expression via Pathway-Focused PCR Arrays including ACVR1:

Osteogenesis in human mouse rat

TGFB/BMP Signaling Pathway in human mouse rat

TGFB Signaling Targets in human mouse rat

Stem Cell Signaling in human mouse rat

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for ACVR1 gene from 6/23 species (see all 23) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ACVR1¹	activin A receptor, type I	77.53(n) 85.6(a)		395246 NM_204560.1 NP_989891.1
lizard (Anolis carolinensis)	Reptilia	ACVR1⁶	--	85(a)	1 ↔ 1	GL343254.1(239952-276982)
African clawed frog (Xenopus laevis)	Amphibia	xALK-2²	activin receptor like kinase-2	83.38(n)		U49914.1
zebrafish (Danio rerio)	Actinopterygii	alk8²	activin receptor-like kinase 8	76.06(n)		30615 AF038425.1
fruit fly (Drosophila melanogaster)	Insecta	sax^{1 , 3}	anterior/posterior pattern formation, imaginal more³ saxophone¹	54(a) (best of 3)³ 57.11(n)¹ 57.11(a)¹		2 43E18³ 35731¹ NM_078928.3¹ NP_523652.2¹
worm (Caenorhabditis elegans)	Secernentea	daf-1³	protein kinase	39(a) (best of 2)		IV(132451-137621) --

ENSEMBL Gene Tree for ACVR1 (if available)
TreeFam Gene Tree for ACVR1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for ACVR1 gene

TGFBR2² ACVR1C² AMHR2² ACVR2A² ACVR2B² ACVR1B² TGFBR1² BMPR1A²

BMPR2² ACVRL1² BMPR1B²

11 SIMAP similar genes for ACVR1 using alignment to 9 protein entries: ACVR1_HUMAN (see all proteins):

ACVRL1 ACVR1C BMPR1A TGFBR1 ACVR1B BMPR1B

ACVR2B H_YH98E06.1 ACVR2A BMPR2 TGFBR2

ACVR1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs111806496^1,2	C	--	150477784(-)	`CAATAA/GGAGAA`	2	--	ds500¹		2		NA NS	542
rs200730430^1,2	C	--	150478035(+)	`AAACAA/CAAAAA`	2	--	ds500¹		0	--	--	--	--
rs200438990^1,2	C	--	150478043(-)	`TTTTTG/TTTTTT`	2	--	ds500¹		0	--	--	--	--
rs113986328^1,2	F	--	150478324(-)	`AAAAAT/CAACTA`	2	--	ut3¹		1		NS	490
rs74392193^1,2	C	--	150478543(+)	`TGTGAT/ATTTAA`	2	--	ut3¹		3		CSA NS WA	605
rs79598188^1,2	C,F	--	150478976(+)	`TTTCCC/TGTGGG`	2	--	ut3¹		1		NS	542
rs113598201^1,2	C	--	150479151(-)	`ACCTCG/ACTCGA`	2	--	ut3¹		1		NS	548
rs2228948^1,2	C,F,O	--	150479196(-)	`ACGTCG/ATACCC`	2	--	ut3¹ ese³		10		MN NA NS WA	954
rs16842009^1,2	C,F,H	--	150479561(+)	`AAGAAC/TTCGCA`	2	--	int¹		13		NA NS EA WA	1346
rs3738926^1,2	C,F,H	--	150479606(-)	`TGCTTG/AAAGAA`	2	--	int¹		10		NS EA NA WA	1378

HapMap Linkage Disequilibrium report for ACVR1 (158592958 - 158732374 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for ACVR1
1 CNV: 98027
4 Indels: 61846 45883 42081 26473
Human Gene Mutation Database (HGMD): ACVR1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ACVR1 for disorders           About GeneDecksing

OMIM gene information: 102576
OMIM disorders: 135100
UniProtKB/Swiss-Prot: ACVR1_HUMAN, Q04771

Defects in ACVR1 are a cause of fibrodysplasia ossificans progressiva (FOP) [MIM:135100]. FOP is a rare

autosomal dominant disorder of skeletal malformations and progressive extraskeletal ossification. Heterotopic

ossification in FOP begins in childhood and can be induced by trauma or may occur without warning. Bone formation is

episodic and progressive, leading to extra-articular ankylosis of all major joints of the axial and appendicular

skeleton, rendering movement impossible

20/39 diseases for ACVR1 (see all 39): About MalaCards

fibrodysplasia ossificans progressiva pre-eclampsia congenital heart defect polycystic ovary syndrome

intracranial aneurysm myocardial infarction acute myocardial infarction primary pulmonary hypertension

osteochondroma pulmonary hypertension ankylosis epithelial ovarian cancer

pituitary adenoma malignant glioma eclampsia goiter

down syndrome ovarian cancer pancreatic cancer hypertension

2 diseases from the University of Copenhagen DISEASES database for ACVR1:

Fibrodysplasia ossificans progressiva Genetic disorder

7 Novoseek disease relationships for ACVR1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
fibrodysplasia ossificans progressiva	86	2	18019378 (1), 18245597 (1), 18684712 (1), 19400542 (1) (see all 7)
ossification heterotopic	64.8	4	19085907 (2), 17967130 (1)
pancreatic cancer	16.5	3	9850059 (1), 9714055 (1)
inflammation	1.11	1	12151307 (1)
tumors	0	5	8636304 (1), 17982616 (1)
carcinoma	0	1	18077314 (1)
cancer	0	1	9714055 (1)

Human Genome Epidemiology (HuGE) Navigator: ACVR1 (9 documents)

Export disorders for ACVR1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for ACVR1 gene, integrated from 9 sources (see all 164):
(articles sorted by number of sources associating them with ACVR1)

Utopia: connect your pdf to the dynamic
world of online information

Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity. (PubMed id 8397373)^{1, 2, 3, 9} ten Dijke P.... Miyazono K. (1993)
Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. (PubMed id 19085907)^{1, 2, 9} Kaplan F.S.... Shore E.M. (2009)
A widely expressed transmembrane serine/threonine kinase that does not bind activin, inhibin, transforming growth factor beta, or bone morphogenic factor. (PubMed id 8389764)^{1, 2, 9} Matsuzaki K. and McKeehan W.L. (1993)
Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients. (PubMed id 19330033)^{1, 2} Petrie K.A.... Triffitt J.T. (2009)
A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. (PubMed id 16642017)^{1, 2} Shore E.M....Kaplan F.S. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Variants in the ACVR1 gene are associated with AMH levels in women with polycystic ovary syndrome. (PubMed id 18854405)^{1, 9} Kevenaar M.E....Visser J.A. (2009)
Activin-A up-regulates type I activin receptor mRNA levels in human immortalized extravillous trophoblast cells. (PubMed id 12702211)^{1, 9} Chen V.T....Leung P.C. (2003)
Specific activation of Smad1 signaling pathways by the BMP7 type I receptor, ALK2. (PubMed id 9748228)^{1, 9} Macias-Silva M....Wrana J.L. (1998)
A unique mutation of ALK2, G356D, found in a patient with fibrodysplasia ossificans progressiva is a moderately activated BMP type I receptor. (PubMed id 18952055)^{1, 9} Fukuda T....Katagiri T. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 90	HGNC: 171	AceView: ACVR1	Ensembl:ENSG00000115170	euGenes: HUgn90
ECgene: ACVR1	Kegg: 90	H-InvDB: ACVR1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for ACVR1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for ACVR1	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACVR1

Intellectual Property for ACVR1 gene
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Patent Information for ACVR1 gene:
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GeneCards and IP:
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ACVR1 Gene

activin A receptor, type I

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ACVR1 (Gene Symbol)
Activin A Receptor, Type I
ACVRLK2
SKR1
ALK2
ACVR1A
Activin Receptor Type I
Activin Receptor-Like Kinase 2
Serine/Threonine-Protein Kinase Receptor R1
TGF-B Superfamily Receptor Type I
EC 2.7.11.30
FOP
ACTRI
TSRI
Activin A Receptor, Type II-Like Kinase 2
Activin Receptor Type-1
Hydroxyalkyl-Protein Kinase
ACTR-I
ALK-2
TSR-I
EC 2.7.11

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ACVR1 Gene

activin A receptor, type I

Aliasesfor ACVR1 gene

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