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Aliases for ACVR1B Gene

Aliases for ACVR1B Gene

  • Activin A Receptor, Type IB 2 3
  • ACVRLK4 3 4 6
  • ALK4 3 4 6
  • Serine/Threonine-Protein Kinase Receptor R2 3 4
  • Activin Receptor-Like Kinase 4 3 4
  • EC 2.7.11.30 4 64
  • SKR2 3 4
  • Activin A Receptor, Type II-Like Kinase 4 3
  • Activin Receptor Type-1B 3
  • Activin Receptor Type IB 4
  • EC 2.7.11 64
  • ACTR-IB 4
  • ACTRIB 3
  • ALK-4 4

External Ids for ACVR1B Gene

Previous Symbols for ACVR1B Gene

  • ACVRLK4

Summaries for ACVR1B Gene

Entrez Gene Summary for ACVR1B Gene

  • This gene encodes an activin A type IB receptor. 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 and two type II receptors. This protein is a type I receptor which is essential for signaling. Mutations in this gene are associated with pituitary tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]

GeneCards Summary for ACVR1B Gene

ACVR1B (Activin A Receptor, Type IB) is a Protein Coding gene. Diseases associated with ACVR1B include pituitary tumors and pancreatic cancer. Among its related pathways are Signaling by GPCR and L1CAM interactions. GO annotations related to this gene include protein serine/threonine kinase activity and SMAD binding. An important paralog of this gene is TGFBR2.

UniProtKB/Swiss-Prot for ACVR1B Gene

  • Transmembrane serine/threonine kinase activin type-1 receptor forming an activin receptor complex with activin receptor type-2 (ACVR2A or ACVR2B). Transduces the activin signal from the cell surface to the cytoplasm and is thus regulating a many physiological and pathological processes including neuronal differentiation and neuronal survival, hair follicle development and cycling, FSH production by the pituitary gland, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. Activin is also thought to have a paracrine or autocrine role in follicular development in the ovary. Within the receptor complex, type-2 receptors (ACVR2A and/or ACVR2B) act as a primary activin receptors whereas the type-1 receptors like ACVR1B act as downstream transducers of activin signals. Activin binds to type-2 receptor at the plasma membrane and activates its serine-threonine kinase. The activated receptor type-2 then phosphorylates and activates the type-1 receptor such as ACVR1B. Once activated, the type-1 receptor binds and phosphorylates the SMAD proteins SMAD2 and SMAD3, on serine residues of the C-terminal tail. Soon after their association with the activin receptor and subsequent phosphorylation, SMAD2 and SMAD3 are released into the cytoplasm where they interact with the common partner SMAD4. This SMAD complex translocates into the nucleus where it mediates activin-induced transcription. Inhibitory SMAD7, which is recruited to ACVR1B through FKBP1A, can prevent the association of SMAD2 and SMAD3 with the activin receptor complex, thereby blocking the activin signal. Activin signal transduction is also antagonized by the binding to the receptor of inhibin-B via the IGSF1 inhibin coreceptor. ACVR1B also phosphorylates TDP2.

Tocris Summary for ACVR1B Gene

  • Activin receptors transduce signals carried by the TGF-beta family of ligands. Such ligands include activin and bone morphogenetic proteins (BMPs). Members of this family are involved in a range of processes, including embryogenesis and tissue homeostasis.

Gene Wiki entry for ACVR1B Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACVR1B Gene

Genomics for ACVR1B Gene

Genomic Location for ACVR1B Gene

Start:
51,951,667 bp from pter
End:
51,997,079 bp from pter
Size:
45,413 bases
Orientation:
Plus strand

Genomic View for ACVR1B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ACVR1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACVR1B Gene

Regulatory Elements for ACVR1B Gene

Proteins for ACVR1B Gene

  • Protein details for ACVR1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P36896-ACV1B_HUMAN
    Recommended name:
    Activin receptor type-1B
    Protein Accession:
    P36896
    Secondary Accessions:
    • B7Z5L8
    • B7Z5W5
    • Q15479
    • Q15480
    • Q15481
    • Q15482

    Protein attributes for ACVR1B Gene

    Size:
    505 amino acids
    Molecular mass:
    56807 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Forms an activin receptor complex with activin receptor type-2 (ACVR2A or ACVR2B). Interacts with TDP2 (By similarity). Interacts with AIP1, FKBP1A, IGSF1, TDGF1, SMAD2, SMAD3 and SMAD7.

    Alternative splice isoforms for ACVR1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACVR1B Gene

Proteomics data for ACVR1B Gene at MOPED

Post-translational modifications for ACVR1B Gene

  • Autophosphorylated. Phosphorylated by activin receptor type-2 (ACVR2A or ACVR2B) in response to activin-binding at serine and threonine residues in the GS domain. Phosphorylation of ACVR1B by activin receptor type-2 regulates association with SMAD7.
  • Ubiquitinated
  • Ubiquitinated. Level of ubiquitination is regulated by the SMAD7-SMURF1 complex
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn43

Other Protein References for ACVR1B Gene

Domains for ACVR1B Gene

UniProtKB/Swiss-Prot:

ACV1B_HUMAN
Domain:
  • The GS domain is a 30-amino-acid sequence adjacent to the N-terminal boundary of the kinase domain and highly conserved in all other known type-1 receptors but not in type-2 receptors. The GS domain is the site of activation through phosphorylation by the II receptors.:
    • P36896
  • Contains 1 GS domain.:
    • P36896
  • Contains 1 protein kinase domain.:
    • P36896
Family:
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.:
    • P36896
genes like me logo Genes that share domains with ACVR1B: view

Function for ACVR1B Gene

Molecular function for ACVR1B Gene

GENATLAS Biochemistry: activin A receptor,type IB
UniProtKB/Swiss-Prot CatalyticActivity: ATP + [receptor-protein] = ADP + [receptor-protein] phosphate
UniProtKB/Swiss-Prot EnzymeRegulation: Activin receptor type-2 (ACVR2A or ACVR2B) activates the type-1 receptor through phosphorylation of its regulatory GS domain.
UniProtKB/Swiss-Prot Function: Transmembrane serine/threonine kinase activin type-1 receptor forming an activin receptor complex with activin receptor type-2 (ACVR2A or ACVR2B). Transduces the activin signal from the cell surface to the cytoplasm and is thus regulating a many physiological and pathological processes including neuronal differentiation and neuronal survival, hair follicle development and cycling, FSH production by the pituitary gland, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. Activin is also thought to have a paracrine or autocrine role in follicular development in the ovary. Within the receptor complex, type-2 receptors (ACVR2A and/or ACVR2B) act as a primary activin receptors whereas the type-1 receptors like ACVR1B act as downstream transducers of activin signals. Activin binds to type-2 receptor at the plasma membrane and activates its serine-threonine kinase. The activated receptor type-2 then phosphorylates and activates the type-1 receptor such as ACVR1B. Once activated, the type-1 receptor binds and phosphorylates the SMAD proteins SMAD2 and SMAD3, on serine residues of the C-terminal tail. Soon after their association with the activin receptor and subsequent phosphorylation, SMAD2 and SMAD3 are released into the cytoplasm where they interact with the common partner SMAD4. This SMAD complex translocates into the nucleus where it mediates activin-induced transcription. Inhibitory SMAD7, which is recruited to ACVR1B through FKBP1A, can prevent the association of SMAD2 and SMAD3 with the activin receptor complex, thereby blocking the activin signal. Activin signal transduction is also antagonized by the binding to the receptor of inhibin-B via the IGSF1 inhibin coreceptor. ACVR1B also phosphorylates TDP2.

Enzyme Numbers (IUBMB) for ACVR1B Gene

Gene Ontology (GO) - Molecular Function for ACVR1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity --
GO:0004674 protein serine/threonine kinase activity IDA 12065756
GO:0004675 transmembrane receptor protein serine/threonine kinase activity NAS 9032295
GO:0004702 receptor signaling protein serine/threonine kinase activity IEA --
GO:0004713 protein tyrosine kinase activity --
genes like me logo Genes that share ontologies with ACVR1B: view
genes like me logo Genes that share phenotypes with ACVR1B: view

Animal Models for ACVR1B Gene

MGI Knock Outs for ACVR1B:

No data available for Transcription Factor Targeting and HOMER Transcription for ACVR1B Gene

Localization for ACVR1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACVR1B Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ACVR1B Gene COMPARTMENTS Subcellular localization image for ACVR1B gene
Compartment Confidence
plasma membrane 5
extracellular 2
endoplasmic reticulum 1
lysosome 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ACVR1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 9032295
GO:0009986 cell surface IDA 12665502
GO:0016020 membrane --
GO:0043235 receptor complex IDA 14517293
genes like me logo Genes that share ontologies with ACVR1B: view

Pathways for ACVR1B Gene

genes like me logo Genes that share pathways with ACVR1B: view

Pathways by source for ACVR1B Gene

Gene Ontology (GO) - Biological Process for ACVR1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle IDA 11117535
GO:0001701 in utero embryonic development IEA --
GO:0001942 hair follicle development IEA --
GO:0006355 regulation of transcription, DNA-templated IDA 12665502
GO:0006468 protein phosphorylation IDA 12065756
genes like me logo Genes that share ontologies with ACVR1B: view

Compounds for ACVR1B Gene

(2) Tocris Compounds for ACVR1B Gene

Compound Action Cas Number
Alantolactone Antiproliferative; induces activin/SMAD3 signaling [546-43-0]
DMH-1 BMP inhibitor; selectively inhibits ALK2 [1206711-16-1]

(4) HMDB Compounds for ACVR1B Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Magnesium
  • Magnesium
7439-95-4
Manganese
  • manganese
7439-96-5

(1) Drugbank Compounds for ACVR1B Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Adenosine triphosphate
  • 5'-ATP
56-65-5 target

(3) Novoseek inferred chemical compound relationships for ACVR1B Gene

Compound -log(P) Hits PubMed IDs
threonine 67.2 4
serine 56.4 4
alanine 6.48 1
genes like me logo Genes that share compounds with ACVR1B: view

Transcripts for ACVR1B Gene

Unigene Clusters for ACVR1B Gene

Activin A receptor, type IB:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ACVR1B Gene

No ASD Table

Relevant External Links for ACVR1B Gene

GeneLoc Exon Structure for
ACVR1B
ECgene alternative splicing isoforms for
ACVR1B

Expression for ACVR1B Gene

mRNA expression in normal human tissues for ACVR1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ACVR1B Gene

SOURCE GeneReport for Unigene cluster for ACVR1B Gene Hs.438918

mRNA Expression by UniProt/SwissProt for ACVR1B Gene

P36896-ACV1B_HUMAN
Tissue specificity: Expressed in many tissues, most strongly in kidney, pancreas, brain, lung, and liver
genes like me logo Genes that share expressions with ACVR1B: view

Orthologs for ACVR1B Gene

This gene was present in the common ancestor of animals.

Orthologs for ACVR1B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACVR1B 36
  • 99.54 (n)
  • 100 (a)
ACVR1B 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ACVR1B 36
  • 92.34 (n)
  • 99.41 (a)
ACVR1B 37
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACVR1B 36
  • 93.67 (n)
  • 99.34 (a)
ACVR1B 37
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acvr1b 36
  • 90.83 (n)
  • 98.22 (a)
Acvr1b 16
Acvr1b 37
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACVR1B 37
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acvr1b 36
  • 91.22 (n)
  • 98.81 (a)
chicken
(Gallus gallus)
Aves ACVR1B 36
  • 80.4 (n)
  • 89.6 (a)
ACVR1B 37
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACVR1B 37
  • 86 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.1058 36
tropical clawed frog
(Silurana tropicalis)
Amphibia acvr1b 36
  • 75.68 (n)
  • 85.98 (a)
zebrafish
(Danio rerio)
Actinopterygii acvr1b 36
  • 74.21 (n)
  • 82.66 (a)
acvr1b 37
  • 79 (a)
OneToMany
ACVR1B (2 of 2) 37
  • 77 (a)
OneToMany
tarama 36
fruit fly
(Drosophila melanogaster)
Insecta babo 37
  • 44 (a)
OneToMany
tkv 38
  • 46 (a)
babo 38
  • 53 (a)
worm
(Caenorhabditis elegans)
Secernentea sma-6 38
  • 34 (a)
daf-1 38
  • 42 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 51 (a)
OneToMany
Species with no ortholog for ACVR1B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACVR1B Gene

ENSEMBL:
Gene Tree for ACVR1B (if available)
TreeFam:
Gene Tree for ACVR1B (if available)

Paralogs for ACVR1B Gene

Selected SIMAP similar genes for ACVR1B Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ACVR1B: view

Variants for ACVR1B Gene

Sequence variations from dbSNP and Humsavar for ACVR1B Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs2714 -- 51,995,500(+) TTGGT(A/C)AGCAT utr-variant-3-prime
rs3058 -- 51,992,158(+) TACAG(C/T)CTCTT intron-variant
rs771997 -- 51,964,384(+) cagat(A/G)tatga intron-variant
rs771998 -- 51,964,411(+) cctgt(C/T)cattg intron-variant
rs772221 -- 51,977,808(+) ttttg(G/T)ggaag intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ACVR1B Gene

Variant ID Type Subtype PubMed ID
nsv525457 CNV Loss 19592680
esv2745889 CNV Deletion 23290073
esv5144 CNV Deletion 18987735
esv2674142 CNV Deletion 23128226
esv2745890 CNV Deletion 23290073

Relevant External Links for ACVR1B Gene

HapMap Linkage Disequilibrium report
ACVR1B
Human Gene Mutation Database (HGMD)
ACVR1B

Disorders for ACVR1B Gene

UniProtKB/Swiss-Prot

ACV1B_HUMAN
  • Note=ACVRIB is abundantly expressed in systemic sclerosis patient fibroblasts and production of collagen is also induced by activin-A/INHBA. This suggests that the activin/ACRV1B signaling mechanism is involved in systemic sclerosis.

(3) Novoseek inferred disease relationships for ACVR1B Gene

Disease -log(P) Hits PubMed IDs
pancreatic cancer 8.9 2
tumors 0 1
cancer 0 3

Relevant External Links for ACVR1B

Genetic Association Database (GAD)
ACVR1B
Human Genome Epidemiology (HuGE) Navigator
ACVR1B
genes like me logo Genes that share disorders with ACVR1B: view

Publications for ACVR1B Gene

  1. Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity. (PMID: 8397373) ten Dijke P. … Miyazono K. (Oncogene 1993) 2 3 4 23
  2. Activation of signalling by the activin receptor complex. (PMID: 8622651) Attisano L. … Massague J. (Mol. Cell. Biol. 1996) 3 4 23
  3. Modulation of activin signal transduction by inhibin B and inhibin- binding protein (INhBP). (PMID: 11266516) Chapman S.C. … Woodruff T.K. (Mol. Endocrinol. 2001) 3 4 23
  4. Cripto-1 activates nodal- and ALK4-dependent and -independent signaling pathways in mammary epithelial Cells. (PMID: 11909953) Bianco C. … Salomon D.S. (Mol. Cell. Biol. 2002) 3 4 23
  5. Activin signaling through type IB activin receptor stimulates aromatase activity in the ovarian granulosa cell-like human granulosa (KGN) cells. (PMID: 12639945) Mukasa C. … Nawata H. (Endocrinology 2003) 3 4 23

Products for ACVR1B Gene

Sources for ACVR1B Gene

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