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Aliases & Descriptions for ACVR1B
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases ACTR-IB 3 ACTRIB 2 ACVRLK4 2 , 3 , 5 ALK-4 3 ALK4 1 , 2 , 3 , 5 ActRIB 1 EC 2.7.11.30 3 SKR2 1 , 2 , 3
Descriptions Activin receptor-like kinase 4 2 , 3 Serine/threonine-protein kinase receptor R2 3 activin A receptor, type IB 2 activin A receptor, type II-like kinase 4 2 activin A type IB receptor 2 serine(threonine) protein kinase receptor R2 2
Search outside databases for aliases for ACVR1B genePrevious GC identifers: GC12M052557 GC12P052375 GC12P052062 GC12P050494
Summaries for ACVR1B (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for ACVR1B : Activins are dimeric growth and differentiation factors which belong to the transforming growthfactor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signalthrough a heteromeric complex of receptor serine kinases which include at least two type I (I andIB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins,composed of a ligand-binding extracellular domain with a cysteine-rich region, a transmembranedomain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors areessential for signaling, and type II receptors are required for binding ligands and for expressionof type I receptors. Type I and II receptors form a stable complex after ligand binding, resultingin phosphorylation of type I receptors by type II receptors. This gene encodes activin A type IBreceptor, composed of 11 exons. Alternative splicing and alternative polyadenylation result in 3fully described transcript variants. The mRNA expression of variants 1, 2, and 3 is confirmed, anda potential fourth variant contains an alternative exon 8 and lacks exons 9 through 11, but itsmRNA expression has not been confirmed. [provided by RefSeq] UniProtKB/Swiss-Prot: ACV1B_HUMAN, P36896 Function : On ligand binding, forms a receptor complex consisting of two type II and two type Itransmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type Ireceptors which autophosphorylate, then bind and activate SMAD transcriptional regulators.Phosphorylates TTRAP
Gene Wiki entry for ACVR1B
Genomic Location for ACVR1B
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
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Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the ACVR1B gene Entrez Gene cytogenetic band: 12q13 Ensembl cytogenetic band: 12q13.13 HGNC cytogenetic band: 12q13 ACVR1B 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 GC12P050631:
(about GC identifiers )
Start:
50,631,753 bp from pter
End:
50,677,127 bp from pter
Size:
45,375 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000012.10 NT_029419.11 Proteins for ACVR1B
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
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: ACV1B_HUMAN, P36896 (See
protein sequence )Recommended Name: Activin receptor type-1B precursor Size : 505 amino acids; 56807 Da
Cofactor : Magnesium or manganese (By similarity)
Subunit : Interacts with AIP1. Part of a complex consisting of AIP1, ACVR2A, ACVR1B and SMAD3.Interacts with TTRAP (By similarity)
Subcellular location : Membrane; Single-pass type I membrane protein
Secondary accessions : Q15479 Q15480 Q15481 Q15482Alternative splicing : 3 isoforms : P36896-1 P36896-2 P36896-3
Post-translational modifications:
Autophosphorylated1
REFSEQ proteins (3 alternative transcripts):
NP_004293.1 NP_064732.2 NP_064733.2 ENSEMBL proteins: ENSP00000257963 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 3 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for ACVR1B: Assays for ACVR1B:
Protein
Domains/ Families for ACVR1B(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P36896 ProtoNet protein and cluster: P36896
1 Blocks protein family : IPB000472 Domain in TGF-beta receptor/activin receptor UniProtKB/Swiss-Prot: ACV1B_HUMAN, P36896 Similarity : Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFBreceptor subfamily Similarity : Contains 1 GS domainSimilarity : Contains 1 protein kinase domain
Gene Function for ACVR1B
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
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Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_004302 Applied Biosystems Silencer ® siRNAs for ACVR1B Sigma-Aldrich siRNA and siRNA Panels for ACVR1B Sigma-Aldrich shRNA Panels and shRNA for ACVR1B Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_004302                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_004302                                  untagged cDNA clones in CMV expression vector (see all 4 ): NM_004302  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_004302 UniProtKB/Swiss-Prot: ACV1B_HUMAN, P36896 Function : On ligand binding, forms a receptor complex consisting of two type II and two type Itransmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type Ireceptors which autophosphorylate, then bind and activate SMAD transcriptional regulators.Phosphorylates TTRAP Catalytic activity : ATP + [receptor-protein] = ADP + [receptor-protein] phosphateEnzyme Number (IUBMB): EC 2.7.11.30
Genatlas biochemistry entry for ACVR1B :activin A receptor,type IB
6 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Acvr1b) :5/13 Gene Ontology (GO) molecular function terms (links to tree view) (see all 13
):
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Pathways & Interactions for ACVR1B
(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 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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4 Sigma-Aldrich "Your Favorite Gene" Pathways for ACVR1B (Your Favorite Gene powered by Ingenuity) Gene Network CentralTM Interacting Genes and Proteins Network for ACVR1B 5/40 Interacting proteins for ACVR1B (ENSP00000257963 3 ) via UniProtKB, MINT, and/or STRING (see all 40
)About this table 5/13 Gene Ontology (GO) biological process terms (links to tree view) (see all 13
):
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Drugs & Compounds for ACVR1B (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 )
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Browse Tocris compounds for ACVR1B 1 Novoseek chemical compound relationship for ACVR1B gene
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Transcripts for ACVR1B(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 ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_004302 Sigma-Aldrich siRNA and siRNA Panels for ACVR1B Sigma-Aldrich shRNA Panels and shRNA for ACVR1B Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_004302 NM_020327 NM_020328
REFSEQ mRNAs for ACVR1B gene (3 alternative transcripts): NM_004302.3 NM_020327.2 NM_020328.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_004302 NM_020327 NM_020328
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_004302                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_004302                                  untagged cDNA clones in CMV expression vector (see all 4 ): NM_004302  
Additional cDNA sequence: AK299120.1 AK299496.1 AL117643.1 BC000254.1 BC034008.1 BC040531.1 BT007072.1 L10125.1 L10126.1 U14722.1 Z22536.1
8 DOTS entries : DT.86845897 DT.100771615 DT.101976747 DT.87046577 DT.40220232 DT.40299238 DT.75155814 DT.95330621
24/164 AceView cDNA sequences (see all 164
):AA436109 AI079778 BE222288 AW026270 F09752 AU131576 BU949145 AL709104 BX099760 AA902887 BC000254 F12114 AW614156 U14722 BM975377 BU943859 BU949388 NM_004302 N48845 BT007072 BM810200 CB529620 BF111083 AW772334
highest scoring ESTs for ACVR1B :AA723548 Z22536 AA436109 AA480376 AA568137 AA622091 AA700528 AA771991 AA781329 AA838698
Unigene Cluster for ACVR1B: Activin A receptor, type IB Hs.438918 [show with all ESTs ] Unigene Representative Sequence: BC040531 GeneLoc Exon Structure 1 Ensembl transcript including schematic representation : ENST00000257963
Expression for ACVR1B
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
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
)
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ACVR1B expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for ACVR1B 1 / 2 / 3
18 probe-sets matching ACVR1B gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: --SOURCE GeneReport for Unigene cluster: Hs.438918 Expression variation in blood from EXPOLDB for ACVR1B
UniProtKB/Swiss-Prot: ACV1B_HUMAN, P36896 Tissue specificity : Expressed in many tissues, most strongly in kidney, pancreas, brain, lung, andliver
Orthologs for ACVR1B
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for ACVR1B gene from 5/10 species (see all 10
)
About this table Species with no ortholog for ACVR1B ENSEMBL Gene Tree for ACVR1B Paralogs for ACVR1B (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for ACVR1B gene ACVR1C 2 TGFBR1 2
SNPs/Variants for ACVR1B (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for ACVR1B (up to first 250kb)
Disorders & Mutations for ACVR1B
(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 ,
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and/or TGDB .)
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OMIM: 601300
3 Novoseek disease relationships for ACVR1B gene
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Medical News for ACVR1B (Possibly Related Articles in
Doctor's Guide )
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--
Publications for ACVR1B (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/86 PubMed articles for ACVR1B gene (see all 86
): 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) Type I receptors specify growth-inhibitory and transcriptional responses to transforming growth factor beta and activin. (PubMed id 8196624) 1, 3, 4 Carcamo J....Massague J. (1994) Ttrap is an essential modulator of Smad3-dependent Nodal signaling during zebrafish gastrulation and left-right axis determination. (PubMed id 18039968) 3, 4 Esguerra C.V....Huylebroeck D. (2007) 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) Identification of the phosphotyrosine proteome from thrombin activated platelets. (PubMed id 12112843) 3, 4 Maguire P.B....Fitzgerald D.J. (2002) Genomic structure and cloned cDNAs predict that four variants in the kinase domain of serine/threonine kinase receptors arise by alternative splicing and poly(A) addition. (PubMed id 8058741) 3, 4 Xu J.... McKeehan W.L. (1994) Identification of a functional binding site for activin on the type I receptor ALK4. (PubMed id 12665502) 1, 3 Harrison C.A....Vale W. (2003) ACVR1B (ALK4, activin receptor type 1B) gene mutations in pancreatic carcinoma. (PubMed id 11248065) 1, 3 Su G.H....Kern S.E. (2001) An activin mutant with disrupted ALK4 binding blocks signaling via type II receptors. (PubMed id 15123686) 1, 3 Harrison C.A....Vale W. (2004) Activation of signalling by the activin receptor complex. (PubMed id 8622651) 1, 3 Attisano L....Massague J. (1996)
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Genome Databases showing ACVR1B
(According to
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AceView ,
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Ensembl ,
miRBase ,
ECgene ,
and/or
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--
Specialized Databases showing ACVR1B (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
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-- Services for ACVR1B (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
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