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ACVR1 Gene

protein-coding GIFtS: 66

GC02M158301

activin A receptor, type I
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: ACVRLK2)

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

Aliases
ACTR-I ^³
ACTRI ^²
ACVR1A ^¹, ²
ACVRLK2 ^², ³, ⁵
ALK-2 ^³
ALK2 ^¹, ², ⁵
EC 2.7.11.30 ^³
FOP ^², ⁵
SKR1 ^¹, ², ³
TSR-I ^³
TSRI ^²

Descriptions
Activin receptor type I ^³
Activin receptor-like kinase 2 ^³
Serine/threonine-protein kinase receptor R1 ^², ³
TGF-B superfamily receptor type I ^², ³
activin A receptor, type I ^²
activin A receptor, type II-like kinase 2 ^²
hydroxyalkyl-protein kinase ^²

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

Search outside databases for aliases for ACVR1 gene

Previous GC identifers: GC02M156524 GC02M157121 GC02M158557 GC02M158795 GC02M158418

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

EntrezGene 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]

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)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the ACVR1 gene

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)

GeneLoc gene densities for chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M158301: (about GC identifiers)

Start:	158,301,207 bp from pter
End:	158,440,598 bp from pter
Size:	139,392 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000002.10 NT_005403.16

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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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)

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

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_001096.1 NP_001104537.1

ENSEMBL proteins:

ENSP00000263640 ENSP00000387273 ENSP00000387127

Human Recombinant Proteins

	Invitrogen human recombinant proteins for ACVR1
	Browse Purified and Recombinant Proteins at Millipore
	Sigma-Aldrich Proteins for ACVR1
	R&D Systems Recombinant & Natural Proteins for ACVR1 (Activin RIA/ALK-2)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Activin Receptor Type IA)
	Human Recombinant Proteins from Abnova (ACVR1)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

3 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016020	membrane	IEA	--
GO:0045177	apical part of cell	IEA	--
GO:0048179	activin receptor complex	IDA	8242742

About this table

Antibodies for ACVR1:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for ACVR1
	R&D Systems Antibodies for ACVR1 (Activin RIA/ALK-2)
	Antibodies from Abcam (Activin Receptor Type IA), each with their Abpromise^SM
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Novus Biologicals Antibodies for ACVR1

Assays for ACVR1:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ACVR1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ACVR1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_001111067

Applied Biosystems Silencer® siRNAs for ACVR1

Sigma-Aldrich siRNA and siRNA Panels for ACVR1

Sigma-Aldrich shRNA Panels and shRNA for ACVR1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for ACVR1
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001105
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001105
untagged cDNA clones in CMV expression vector (see all 3): NM_001105

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_001111067

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)

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

Enzyme Number (IUBMB): EC 2.7.11.30

Genatlas biochemistry entry for ACVR1:

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

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

	behavior/neurological	craniofacial	digestive/alimentary	embryogenesis
growth/size	hearing/vestibular/ear	lethality-prenatal/perinatal	nervous system	skeleton

5/12 Gene Ontology (GO) molecular function terms (links to tree view) (see all 12 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0000287	magnesium ion binding	IEA	--
GO:0004872	receptor activity	IEA	--
GO:0005524	ATP binding	IDA	12065756
GO:0016361	contributes to activin receptor activity, type I	IDA	8242742

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

4 Sigma-Aldrich "Your Favorite Gene" Pathways for ACVR1 (Your Favorite Gene powered by Ingenuity)

PPAR&alpha
Wnt/&beta
Factors Promoting Cardiogenesis in Vertebrates
TGF-&beta

GeneDecks ACVR1 for the pathways selected above

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

5/51 Interacting proteins for ACVR1 (ENSP00000263640³ Q04771²) via UniProtKB, MINT, and/or STRING (see all 51 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
INHBE	ENSP00000266646³	STRING (score=.997)
AMH	ENSP00000221496³	STRING (score=.991)
BMP2	ENSP00000368104³	STRING (score=.987)
BMP7	ENSP00000360340³	STRING (score=.987)
SMAD5	ENSP00000231589³	STRING (score=.987)

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5/24 Gene Ontology (GO) biological process terms (links to tree view) (see all 24 ):

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	--

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for ACVR1
2 Novoseek chemical compound relationships for ACVR1 gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
threonine	66.11	5	8242742 (1), 7791754 (1), 8389764 (1), 15621726 (1)
oligonucleotide	0.00	1	8389764 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ACVR1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ACVR1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_001111067

Sigma-Aldrich siRNA and siRNA Panels for ACVR1

Sigma-Aldrich shRNA Panels and shRNA for ACVR1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001105 NM_001111067

REFSEQ mRNAs for ACVR1 gene (2 alternative transcripts):

NM_001105.4 NM_001111067.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001105 NM_001111067

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001105
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001105
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_001105

Additional cDNA sequence:

AK297765.1 AK313630.1 BC033867.1 BC036748.1 CR623544.1 L02911.1 Z22534.1

11 DOTS entries:

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

DT.40220054 DT.97804988 DT.95096700

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

CN481300 BU629124 H96913 AW613513 AI520721 L02911 N66988 BX455529

CD655050 R45384 BC033867 BM545650 T29135 AI493854 AW118702 BM128460

CR623544 BM703959 BC036748 R20290 BX505932 BM851122 AW029054 AI623705

highest scoring ESTs for ACVR1:

BC033867 BC036748 L02911 Z22534 AA024668 AA025278 AA053838 AA136882 AA136910 AA298554

Unigene Cluster for ACVR1:

Activin A receptor, type I

Hs.470316 [show with all ESTs]

Unigene Representative Sequence: BC036748

GeneLoc Exon Structure

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

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

About this scheme

ECgene alternative splicing isoforms for ACVR1

3 Ensembl transcripts including schematic representations:

ENST00000263640 ENST00000409283 ENST00000410057

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

ACVR1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for ACVR1

¹ / ² / ³

3 probe-sets matching ACVR1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
39764_at²^{, 3}	U95-A	1	0.81	1.00	1.00	1.00	Z22534	0.80	1.00	0.91	1
203935_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_001105	0.60	1.00	0.82	1
203935_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks ACVR1 for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TGCTGATGTT

SOURCE GeneReport for Unigene cluster: Hs.470316
Expression variation in blood from EXPOLDB for ACVR1
UniProtKB/Swiss-Prot: ACVR1_HUMAN, Q04771
Tissue specificity: Expressed in normal parenchymal cells, endothelial cells, fibroblasts and
tumor-derived epithelial cells

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for ACVR1 gene from 5/13 species (see all 13 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	ACVR1¹	--	activin A receptor, type I	92.86(n) 97.62(a)	478757 XM_851059.1 XP_856152.1
chimpanzee (Pan troglodytes)	ACVR1¹	--	activin A receptor, type I	99.48(n) 99.8(a)	470565 XM_001145163.1 XP_001145163.1
cow (Bos taurus)	ACVR1¹	--	activin A receptor, type I	93.12(n) 99.02(a)	338068 NM_176663.2 NP_788836.1
rat (Rattus norvegicus)	Acvr1¹	--	activin A receptor, type I	89.59(n) 97.25(a)	79558 NM_024486.1 NP_077812.1
mouse (Mus musculus)	Acvr1^{1, 5}	2⁵	activin A receptor, type 1^{1, 5}	90.77(n)¹ 98.43(a)¹	11477¹ NM_007394.2¹ NP_031420.2¹ AF332087⁵ AF332088⁵ (see all 15)

About this table Species with no ortholog for ACVR1

ENSEMBL Gene Tree for ACVR1

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for ACVR1 gene

ACVRL1²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/457 NCBI SNPs in ACVR1 are shown (see all 457 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 150)

AB	SNP ID	Valid	Chr 2 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs12997^1,2	A,C,F,H,O	158301603(-)	`TGCTTT/CGTGCA`	2	--	ut3¹		14	MN EA NA EU WA	2762
	rs12936^1,2	C,F,H,O	158302244(-)	`TCATTG/TTCCAG`	2	--	ut3¹		9	MN EU EA WA NA	673
	rs13406336^1,2	C,F,H	158364208(+)	`GGAGAG/CCAATC`	2	G/A	mis¹ trp³		8	EU EA WA	838
	rs2228948^1,2	C,F,O	158302151(-)	`ACGTCG/ATACCC`	2	--	ut3¹ ese³		4	MN NA	162
	rs2883605^1,2	C,F,H	158404775(+)	`CCAGGG/TTGTGA`	1	--	ng3¹		4	EU EA WA	416
	rs9288697^1,2	C,F,H	158403064(+)	`TGCATG/TGCTTT`	1	--	ng3¹		14	NS NA EU EA WA	848
	rs3754592^1,2	H	158383226(-)	`TACCCC/AAGTGA`	2	--	ut5¹ ese³		4	EU EA WA	418
--	rs34056189^1,2	C	158345285(+)	`TCACAG/CTGGTC`	2	Q/H	mis¹		4	EU EA WA	420
	rs1146031^1,2	A,C,F,H,O	158335226(-)	`GGGGAA/GAATGT`	2	E/E	syn¹ trp³		8	EA NA EU WA	2032
	rs3738927^1,2	C,F,H	158302306(-)	`ACAAAT/CTGAAA`	2	L/L	syn¹		4	EU EA WA	414

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HapMap Linkage Disequilibrium images for ACVR1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 102576 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

7 Novoseek disease relationships for ACVR1 gene

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
fibrodysplasia ossificans progressiva	81.41	2	18019378 (1), 18245597 (1), 18684712 (1), 19400542 (1) (see all 7)
ossification heterotopic	62.34	4	19085907 (2), 17967130 (1)
pancreatic cancer	6.16	3	9850059 (1), 9714055 (1)
inflammation	4.39	1	12151307 (1)
cancer	0.00	1	9714055 (1)
carcinoma	0.00	1	18077314 (1)
tumors	0.00	5	8636304 (1), 17982616 (1)

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Human Gene Mutation Database: ACVR1
Human Genome Epidemiology Navigator: ACVR1 (4 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/122 PubMed articles for ACVR1 gene (see all 122 ):

Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity. (PubMed id 8397373)^{1, 2, 3, 4} ten Dijke P.... Miyazono K. (1993)
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, 3, 4} Matsuzaki K. and McKeehan W.L. (1993)
A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. (PubMed id 16642017)^{3, 4} 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)^{3, 4} 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, 3} 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, 3} Chen V.T....Leung P.C. (2003)
Specific activation of Smad1 signaling pathways by the BMP7 type I receptor, ALK2. (PubMed id 9748228)^{1, 3} 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, 3} Fukuda T....Katagiri T. (2008)
Identification of type I receptors for osteogenic protein-1 and bone morphogenetic protein-4. (PubMed id 8006002)^{1, 3} ten Dijke P....Miyazono K. (1994)
Constitutively activated ALK2 and increased SMAD1/5 cooperatively induce bone morphogenetic protein signaling in fibrodysplasia ossificans progressiva. (PubMed id 18684712)^{1, 3} Fukuda T....Katagiri T. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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, and/or H-InvDB)
About This Section

Entrez Gene: 90	HGNC: 171	AceView: ACVR1	Ensembl:ENSG00000115170	euGenes: HUgn90
ECgene: ACVR1	H-InvDB: ACVR1

(According to HUGE)
About This Section

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

Name	Description
ATLAS Chromosomes in Cancer entry for ACVR1	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=ACVR1

Licensable Technologies for ACVR1
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for ACVR1:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for ACVR1-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for ACVR1		Antibodies for ACVR1
	Explore super-pooled esiRNAs		Proteins for ACVR1
	Lentivirus-delivered shRNAs for ACVR1		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
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Antibodies for ACVR1

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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ACVR1 Gene at Home site.
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ACVR1 Gene

protein-coding GIFtS: 66

Aliases &
Descriptions
for ACVR1

Summaries
for ACVR1

Genomic Location
for ACVR1

Proteins
for ACVR1

Protein Domains/
Families
for ACVR1

Gene Function
for ACVR1

Pathways & Interactions
for ACVR1

Drugs & Compounds
for ACVR1

Transcripts
for ACVR1

Expression
for ACVR1

Orthologs
for ACVR1

Paralogs
for ACVR1

SNPs/Variants
for ACVR1

Disorders & Mutations
for ACVR1

Medical News
for ACVR1

Publications
for ACVR1

Search for ACVR1

Genome Databases showing ACVR1

Other Databases showing ACVR1

Specialized Databases showing ACVR1

Licensable Technologies
for ACVR1

Services
for ACVR1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

ACVR1 Gene

protein-coding GIFtS: 66

Aliases & Descriptionsfor ACVR1

Summariesfor ACVR1

Genomic Locationfor ACVR1

Proteinsfor ACVR1

Protein Domains/Familiesfor ACVR1

Gene Functionfor ACVR1

Pathways & Interactionsfor ACVR1

Drugs & Compoundsfor ACVR1

Transcriptsfor ACVR1

Expression for ACVR1

Orthologsfor ACVR1

Paralogsfor ACVR1

SNPs/Variantsfor ACVR1

Disorders & Mutationsfor ACVR1

Medical Newsfor ACVR1

Publicationsfor ACVR1

Search for ACVR1

Genome Databases showing ACVR1

Other Databases showing ACVR1

Specialized Databases showing ACVR1

Licensable Technologiesfor ACVR1

Servicesfor ACVR1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for ACVR1

Summaries
for ACVR1

Genomic Location
for ACVR1

Proteins
for ACVR1

Protein Domains/
Families
for ACVR1

Gene Function
for ACVR1

Pathways & Interactions
for ACVR1

Drugs & Compounds
for ACVR1

Transcripts
for ACVR1

Expression
for ACVR1

Orthologs
for ACVR1

Paralogs
for ACVR1

SNPs/Variants
for ACVR1

Disorders & Mutations
for ACVR1

Medical News
for ACVR1

Publications
for ACVR1

Licensable Technologies
for ACVR1

Services
for ACVR1