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ACVRL1 Gene

protein-coding GIFtS: 69

GC12P050587

activin A receptor type II-like 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: ACVRLK1, ORW2)

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

Aliases
ACVRLK1 ^², ³, ⁵
ALK-1 ^², ³
ALK1 ^¹, ², ³, ⁵
EC 2.7.11.30 ^³
HHT ^¹, ²
HHT2 ^¹, ², ⁵
ORW2 ^²
SKR3 ^², ³
TSR-I ^², ³

Descriptions
Activin receptor-like kinase 1 ^³
TGF-B superfamily receptor type I ^², ³
activin A receptor type II-like 1 ^²
activin A receptor, type II-like kinase 1 ^²
serine/threonine-protein kinase receptor R3 ^²

External Ids
HGNC: 175¹
Entrez Gene: 94²
UniProtKB: P37023³
Ensembl: ENSG00000139567⁷

Search outside databases for aliases for ACVRL1 gene

Previous GC identifers: GC12M052630 GC12P052332 GC12P052017

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

EntrezGene summary for ACVRL1:

This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares

with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a

glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short

C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with

other closely related ALK or activin receptor-like kinase proteins that form a subfamily of

receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic

telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq]

UniProtKB/Swiss-Prot: ACVL1_HUMAN, P37023

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 TGF-beta. May bind activin as well

Gene Wiki entry for ACVRL1

(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 ACVRL1 gene

Entrez Gene cytogenetic band: 12q11-q14 Ensembl cytogenetic band: 12q13.13 HGNC cytogenetic band: 12q11-q14

ACVRL1 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 12 GeneLoc Exon Structure

GeneLoc location for GC12P050587: (about GC identifiers)

Start:	50,587,469 bp from pter
End:	50,603,412 bp from pter
Size:	15,944 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000012.10 NT_029419.11

(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: ACVL1_HUMAN, P37023 (See protein sequence)

Recommended Name: Serine/threonine-protein kinase receptor R3 precursor

Size: 503 amino acids; 56124 Da

Cofactor: Magnesium or manganese (By similarity)

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

Secondary accessions: A6NGA8

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_000011.2 NP_001070869.1

ENSEMBL proteins:

ENSP00000267008 ENSP00000373574

Human Recombinant Proteins

	Invitrogen human recombinant proteins for ACVRL1
	Browse Purified and Recombinant Proteins at Millipore
	Sigma-Aldrich Proteins for ACVRL1
	R&D Systems Recombinant & Natural Proteins for ACVRL1 (ALK-1)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (ACVRL1)
	Human Recombinant Proteins from Abnova (ACVRL1)

OriGene Purified Recombinant Human Protein: ACVRL1

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	18029348
GO:0005886	plasma membrane	IDA	18029348
GO:0005887	integral to plasma membrane	IDA	8242742
GO:0009986	cell surface	IDA	8242742

About this table

Antibodies for ACVRL1:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for ACVRL1
	R&D Systems Antibodies for ACVRL1 (ALK-1)
	Antibodies from Abcam (ACVRL1), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (ACVRL1)
	Novus Biologicals Antibodies for ACVRL1

Assays for ACVRL1:

	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 P37023

ProtoNet protein and cluster: P37023

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

UniProtKB/Swiss-Prot: ACVL1_HUMAN, P37023

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 (ACVRL1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ACVRL1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_001077401

Applied Biosystems Silencer® siRNAs for ACVRL1

Sigma-Aldrich siRNA and siRNA Panels for ACVRL1

Sigma-Aldrich shRNA Panels and shRNA for ACVRL1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for ACVRL1
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000020
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000020
untagged cDNA clones in CMV expression vector (see all 3): NM_000020

Primers:

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

OriGene genome-wide validated SYBR primer pairs: NM_000020

UniProtKB/Swiss-Prot: ACVL1_HUMAN, P37023

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 TGF-beta. May bind activin as well

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

Enzyme Number (IUBMB): EC 2.7.11.30

Genatlas biochemistry entry for ACVRL1:

activin A receptor,type II-like 1,homolog to ORW2

11 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Acvrl1):

	craniofacial	digestive/alimentary	embryogenesis	growth/size
hematopoietic system	lethality-prenatal/perinatal	life span-post-weaning/aging	liver/biliary system	muscle
normal

5/10 Gene Ontology (GO) molecular function terms (links to tree view) (see all 10 ):

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	TAS	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.)
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Gene Network Central^TM Interacting Genes and Proteins Network for ACVRL1

5/38 Interacting proteins for ACVRL1 (ENSP00000267008³) via UniProtKB, MINT, and/or STRING (see all 38 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ENG	ENSP00000362299³	STRING (score=.997)
TGFB1	ENSP00000221930³	STRING (score=.994)
INHBE	ENSP00000266646³	STRING (score=.993)
SMAD2	ENSP00000262160³	STRING (score=.985)
SMAD3	ENSP00000332973³	STRING (score=.984)

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5/14 Gene Ontology (GO) biological process terms (links to tree view) (see all 14 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001525	angiogenesis	IMP	16752392
GO:0001701	in utero embryonic development	IEA	--
GO:0006468	protein amino acid phosphorylation	IDA	12065756
GO:0007162	negative regulation of cell adhesion	IMP	12453878
GO:0007165	signal transduction	IDA	15702480

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(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 ACVRL1
4 Novoseek chemical compound relationships for ACVRL1 gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
[alcl]	73.10	6	12657933 (2), 10786813 (1), 17484779 (1), 12835569 (1) (see all 5)
tgf beta1	44.79	6	17071858 (2), 16762882 (1), 16785228 (1), 17068149 (1)
threonine	36.97	6	8397373 (1), 12700602 (1), 18159113 (1), 16785228 (1)
oligonucleotide	0.00	3	12384983 (2), 10899246 (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 (ACVRL1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ACVRL1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_001077401

Sigma-Aldrich siRNA and siRNA Panels for ACVRL1

Sigma-Aldrich shRNA Panels and shRNA for ACVRL1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000020 NM_001077401

REFSEQ mRNAs for ACVRL1 gene (2 alternative transcripts):

NM_000020.2 NM_001077401.1

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000020 NM_001077401

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000020
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000020
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_000020

Additional cDNA sequence:

AK056725.1 AK298493.1 AK300619.1 AK303331.1 BC042637.1 CR596233.1 CR599504.1 L17075.1

Z22533.1

6 DOTS entries:

DT.444614 DT.75104535 DT.452045 DT.95311383 DT.95163556 DT.92015392

24/160 AceView cDNA sequences (see all 160 ):

AA296280 CR596233 BX105121 BU739570 CD367285 BU633341 BI523915 AI672874

BM978185 AI973089 BU683521 AI799845 CR599504 BM717681 BX460313 AI247327

CD367529 AI804689 BM726875 AW205372 AA913553 AA359616 BM712769 BM713543

highest scoring ESTs for ACVRL1:

L17075 Z22533 AA723594 AA902673 AI247327 AI417883 AI420640 AI420822 AI474440 AI659369

Unigene Cluster for ACVRL1:

Activin A receptor type II-like 1

Hs.591026 [show with all ESTs]

Unigene Representative Sequence: NM_000020

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for ACVRL1

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

About this scheme

ECgene alternative splicing isoforms for ACVRL1

2 Ensembl transcripts including schematic representations:

ENST00000267008 ENST00000388922

(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

ACVRL1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for ACVRL1

¹ / ² / ³

9 probe-sets matching ACVRL1 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
1927_s_at²^{, 3}	U95-A	1	1.00	1.00	0.91	0.66	U77713	0.20	1.00	0.72	1
48677_at²^{, 3}	U95-C	1	1.00	1.00	0.91	1.19	T63524	0.60	1.00	0.82	1
40594_r_at²^{, 3}	U95-A	1	1.00	1.00	0.53	1.12	Z22533	1.00	1.00	1.00	1
32714_s_at²^{, 3}	U95-A	1	1.00	1.00	0.99	0.83	L17075	1.00	1.00	1.00	1
44868_s_at²^{, 3}	U95-B	1	1.00	1.00	0.96	1.23	AA917734	0.40	1.00	0.76	1
226950_at²^{, 3}	U133-B	1	1.00	1.00	--	--	T63524	0.60	1.00	0.82	1
210838_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	L17075	1.00	1.00	1.00	1
226950_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
210838_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks ACVRL1 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: GTTAAATCCT

SOURCE GeneReport for Unigene cluster: Hs.591026
Expression variation in blood from EXPOLDB for ACVRL1

(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 ACVRL1 gene from 5/9 species (see all 9 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	ACVRL1¹	--	activin A receptor type II-like 1	90.77(n) 93.43(a)	477603 XM_534796.2 XP_534796.2
chimpanzee (Pan troglodytes)	ACVRL1¹	--	activin A receptor type II-like 1	99.47(n) 100(a)	451910 XM_001145609.1 XP_001145609.1
cow (Bos taurus)	ACVRL1¹	--	activin A receptor type II-like 1	90.09(n) 91.02(a)	534536 XM_614333.3 XP_614333.3
rat (Rattus norvegicus)	Acvrl1¹	--	activin A receptor type II-like 1	85.46(n) 89.84(a)	25237 NM_022441.1 NP_071886.1
mouse (Mus musculus)	Acvrl1^{1, 5}	15⁵	activin A receptor, type II-like 1^{1, 5}	85.47(n)¹ 89.2(a)¹	11482¹ NM_009612.2¹ NP_033742.2¹ AI115505⁵ AI427544⁵ (see all 14)

About this table Species with no ortholog for ACVRL1

ENSEMBL Gene Tree for ACVRL1

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

Paralogs for ACVRL1 gene

ACVR1²

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

10/98 NCBI SNPs in ACVRL1 are shown (see all 98 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 67)

AB	SNP ID	Valid	Chr 12 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs706819^1,2	A,C,F,H,O	50602190(-)	`ACTGAG/AGAAGT`	2	--	ut3¹		17		MN EU EA WA NA	1658
	rs11169953^1,2	A,C,F,H	50590666(+)	`TTTTTC/TCTTTC`	2	--	int¹ ng5¹ trp³		4		EU EA WA	410
	rs2293094^1,2	C,F,H,O	50602870(-)	`CACATA/GAGATG`	2	--	ut3¹		13		EA EU WA NA	2528
	rs3759178^1,2	A,C,F,H	50585526(+)	`CGAACT/GCTGGT`	1	--	ng5¹		8		EA EU WA NA	2156
	rs706818^1,2	A,C,F	50601504(-)	`GCTGCA/GCTCTT`	2	--	ut3¹		4		EA NA	1542
	rs2293093^1,2	C,F,H	50603324(-)	`GAGAAG/CTGTAA`	2	--	ut3¹		12		EU EA WA	1258
--	rs2293092^1,2	C,F,H	50603342(-)	`AACAGC/TGTCTC`	2	--	ut3¹		3		EU EA	268
	rs2277381^1,2	C,F,H	50592294(+)	`TTAAAC/GATTGC`	2	--	int¹ ng5¹		5		EA EU WA	1904
	rs706821^1,2	A,C	50603492(+)	`GGGAGA/GAGAGG`	2	--	ng3¹		0	--	--	--	--
	rs1690215^1,2	A,C	50592056(-)	`CTGTCC/TTCACT`	2	--	int¹ ng5¹		0	--	--	--	--

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HapMap Linkage Disequilibrium images for ACVRL1 (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: 601284 disorders: 600376

UniProtKB/Swiss-Prot: ACVL1_HUMAN, P37023

Defects in ACVRL1 are the cause of hereditary hemorrhagic telangiectasia type 2 (HHT2)

[MIM:600376]; also known as Osler-Rendu-Weber syndrome 2 (ORW2). HHT2 is an autosomal dominant

multisystemic vascular dysplasia, characterized by recurrent epistaxis, muco-cutaneous

telangiectases, gastro-intestinal hemorrhage, and pulmonary, cerebral and hepatic arteriovenous

malformations; all secondary manifestations of the underlying vascular dysplasia

10/30 Novoseek disease relationships for ACVRL1 gene (see all 30 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
telangiectasia hereditary hemorrhagic	96.95	100	11484689 (3), 10767348 (2), 16861286 (2), 16470589 (2) (see all 55)
telangiectasia	92.22	37	15065824 (2), 14684682 (2), 11773580 (1), 16059938 (1) (see all 20)
arteriovenous malformations	86.37	22	16470787 (2), 11773580 (1), 16059938 (1), 16762882 (1) (see all 14)
anaplastic large cell lymphoma	74.76	3	12218210 (1), 12657933 (1), 11266530 (1)
angiodysplasia	66.62	6	10187774 (1), 16429404 (1), 19205515 (1)
dysplasia	66.12	17	16059938 (1), 16595794 (1), 10749981 (1), 15065824 (1) (see all 11)
primary pulmonary hypertension	63.56	3	11869166 (1), 15065824 (1), 11484689 (1)
lymphomatoid papulosis	62.24	1	17484779 (1)
polyposis	60.04	2	16705692 (1), 16690726 (1)
vascular diseases	59.48	32	14684682 (2), 12667943 (1), 15385967 (1), 18673552 (1) (see all 14)

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GeneTests: ACVRL1

Hereditary Hemorrhagic Telangiectasia

Human Gene Mutation Database: ACVRL1
Genetic Association Database: ACVRL1
Human Genome Epidemiology Navigator: ACVRL1 (11 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

10/204 PubMed articles for ACVRL1 gene (see all 204 ):

Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. (PubMed id 8640225)^{1, 2, 3, 4} Johnson D.W....Marchuk D.A. (1996)
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)
Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2. (PubMed id 10767348)^{1, 3, 4} Abdalla S.A.... Letarte M. (2000)
Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations. (PubMed id 15712270)^{1, 3, 4} Kuehl H.K.A.... Stuhrmann M. (2005)
Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia. (PubMed id 10694922)^{1, 3, 4} Klaus D.J.... Marchuk D.A. (1998)
Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. (PubMed id 14684682)^{1, 3, 4} Harrison R.E.... Trembath R.C. (2003)
The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. (PubMed id 9245985)^{1, 3, 4} Berg J.N.... Marchuk D.A. (1997)
Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. (PubMed id 15024723)^{1, 3, 4} Lesca G.... Giraud S. (2004)
Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. (PubMed id 11484689)^{1, 3, 4} Trembath R.C.... Morrell N.W. (2001)
Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations. (PubMed id 12920067)^{1, 3, 6} Berg J....Guttmacher A. (2003)

(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, and/or H-InvDB)
About This Section

Entrez Gene: 94	HGNC: 175	AceView: ACVRL1	Ensembl:ENSG00000139567	euGenes: HUgn94
ECgene: ACVRL1	H-InvDB: ACVRL1

(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 ACVRL1	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=ACVRL1

Licensable Technologies for ACVRL1
(Available from WIS Yeda, Salk, Tufts)

About This Section

(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)
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Products for ACVRL1:

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 ACVRL1-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 ACVRL1		Antibodies for ACVRL1
	Explore super-pooled esiRNAs		Proteins for ACVRL1
	Lentivirus-delivered shRNAs for ACVRL1		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
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (ACVRL1)
	Antibodies (ACVRL1)
	Chimera RNAi (ACVRL1)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Search for Antibodies & Assays

	Recombinant Proteins (ACVRL1)
	Antibodies (ACVRL1)

	Tagged/untagged cDNA clones
	Validated SYBR primer pairs
	Purified proteins from HEK293T cells
	Western blot validated antibodies
	shRNA in GFP-retroviral vector

Search Tocris compounds for ACVRL1

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for ACVRL1

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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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ACVRL1 Gene at Home site.
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ACVRL1 Gene

protein-coding GIFtS: 69

Aliases &
Descriptions
for ACVRL1

Summaries
for ACVRL1

Genomic Location
for ACVRL1

Proteins
for ACVRL1

Protein Domains/
Families
for ACVRL1

Gene Function
for ACVRL1

Pathways & Interactions
for ACVRL1

Drugs & Compounds
for ACVRL1

Transcripts
for ACVRL1

Expression
for ACVRL1

Orthologs
for ACVRL1

Paralogs
for ACVRL1

SNPs/Variants
for ACVRL1

Disorders & Mutations
for ACVRL1

Medical News
for ACVRL1

Publications
for ACVRL1

Search for ACVRL1

Genome Databases showing ACVRL1

Other Databases showing ACVRL1

Specialized Databases showing ACVRL1

Licensable Technologies
for ACVRL1

Services
for ACVRL1

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

ACVRL1 Gene

protein-coding GIFtS: 69

Aliases & Descriptionsfor ACVRL1

Summariesfor ACVRL1

Genomic Locationfor ACVRL1

Proteinsfor ACVRL1

Protein Domains/Familiesfor ACVRL1

Gene Functionfor ACVRL1

Pathways & Interactionsfor ACVRL1

Drugs & Compoundsfor ACVRL1

Transcriptsfor ACVRL1

Expression for ACVRL1

Orthologsfor ACVRL1

Paralogsfor ACVRL1

SNPs/Variantsfor ACVRL1

Disorders & Mutationsfor ACVRL1

Medical Newsfor ACVRL1

Publicationsfor ACVRL1

Search for ACVRL1

Genome Databases showing ACVRL1

Other Databases showing ACVRL1

Specialized Databases showing ACVRL1

Licensable Technologiesfor ACVRL1

Servicesfor ACVRL1

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 ACVRL1

Summaries
for ACVRL1

Genomic Location
for ACVRL1

Proteins
for ACVRL1

Protein Domains/
Families
for ACVRL1

Gene Function
for ACVRL1

Pathways & Interactions
for ACVRL1

Drugs & Compounds
for ACVRL1

Transcripts
for ACVRL1

Expression
for ACVRL1

Orthologs
for ACVRL1

Paralogs
for ACVRL1

SNPs/Variants
for ACVRL1

Disorders & Mutations
for ACVRL1

Medical News
for ACVRL1

Publications
for ACVRL1

Licensable Technologies
for ACVRL1

Services
for ACVRL1