ACVR1B Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | ACVR1B |
| Official Name | activin A receptor type 1B [Source:HGNC Symbol;Acc:HGNC:172] |
| Ensembl ID | ENSG00000135503 |
| Bio databases IDs | |
| Aliases | activin A receptor type 1B |
| Synonyms | 6820432J04, activin A receptor type 1B, activin A receptor, type 1B, ACTRIB, ACVRLK4, ALK-4, SKR2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ACVR1B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SMAD binding
- protein serine/threonine kinase
- protein kinase
- Activin types I and II receptor domain
- ATP binding
- Protein kinase domain
- transmembrane receptor protein serine/threonine kinase
- intracellular domain
- TFP
- Tyrosine kinase, catalytic domain
- growth factor binding
- transmembrane receptor
- ubiquitin protein ligase binding
- extracellular domain
- Protein kinase (unclassified specificity)
- Protein tyrosine and serine/threonine kinase
- activin binding
- protein binding
- kinase
- Serine/Threonine protein kinases, catalytic domain
- kinase domain
- type I activin receptor
- Protein Kinases, catalytic domain
- activin receptor
- transmembrane domain
- Transforming growth factor beta type I GS-motif
- glycine serine rich domain
Pathways
Biological processes and signaling networks where the ACVR1B gene in human plays a role, providing insight into its function and relevance in health or disease.
- Cellular Effects of Sildenafil (Viagra)
- Epithelial Adherens Junction Signaling
- Factors Promoting Cardiogenesis in Vertebrates
- FAK Signaling
- GADD45 Signaling
- Neuroinflammation Signaling Pathway
- PPARα/RXRα Activation
- RAR Activation
- Role of Tissue Factor in Cancer
- TGF-β Signaling
- Th1 and Th2 Activation Pathway
- Th2 Pathway
- Transcriptional Regulatory Network in Embryonic Stem Cells
- WNT/β-catenin Signaling
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- depressive disorder
- cancer
- epithelial cancer
- epithelial neoplasia
- neoplasia
- squamous cell lung cancer
- breast adenocarcinoma
- pancreatic carcinoma
- pancreatic epithelial cancer
- pancreatic ductal adenocarcinoma
role in cell
- expression in
- growth
- phosphorylation in
- apoptosis
- differentiation
- transactivation in
- number
- ossification by
- G1/S phase transition
- CTL mediated lysis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- Cytoplasm
- cell surface
- cellular membrane
- Nucleus
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ACVR1B gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- signal transduction
- extrinsic apoptotic signaling pathway
- nervous system development
- protein autophosphorylation
- regulation of transcription, DNA-dependent
- transmembrane receptor protein serine/threonine kinase signaling pathway
- protein phosphorylation
- positive regulation of erythrocyte differentiation
- nodal signaling pathway
- activin receptor signaling pathway
- negative regulation of gene expression
- hair follicle development
- negative regulation of cell growth
- in utero embryonic development
- positive regulation of gene expression
- cellular response to growth factor stimulus
- positive regulation of activin receptor signaling pathway
- G1/S transition of mitotic cell cycle
- peptidyl-threonine phosphorylation
Cellular Component
Where in the cell the gene product is active
- activin receptor complex
- cytosol
- receptor complex
- plasma membrane
- cell surface
Molecular Function
What the gene product does at the molecular level
- growth factor binding
- protein serine/threonine kinase activity
- transmembrane receptor protein serine/threonine kinase activity
- ATP binding
- activin binding
- protein binding
- ubiquitin protein ligase binding
- SMAD binding
- metal ion binding
- activin receptor activity, type I
- activin-activated receptor activity
- I-SMAD binding
- inhibin binding