MFHAS1 Gene Summary [Human]
Identified in a human 8p amplicon, this gene is a potential oncogene whose expression is enhanced in some malignant fibrous histiocytomas (MFH). The primary structure of its product includes an ATP/GTP-binding site, three leucine zipper domains, and a leucine-rich tandem repeat, which are structural or functional elements for interactions among proteins related to the cell cycle, and which suggest that overexpression might be oncogenic with respect to MFH. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | MFHAS1 |
| Official Name | malignant fibrous histiocytoma amplified sequence 1 [Source:HGNC Symbol;Acc:HGNC:16982] |
| Ensembl ID | ENSG00000147324 |
| Bio databases IDs | |
| Aliases | malignant fibrous histiocytoma amplified sequence 1, multifunctional ROCO family signaling regulator 1, leucine rich repeat containing 65, malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1 |
| Synonyms | 2310066G09Rik, AC270282.1, D8Ertd91e, LRRC65, malignant fibrous histiocytoma amplified sequence 1, MASL1, multifunctional ROCO family signaling regulator 1, ROCO4 |
| 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 MFHAS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- GTP binding
- ubiquitin protein ligase binding
- protein phosphatase 1 regulatory subunit 42
- protein phosphatase binding
- Leucine rich repeat
- protein binding
- C-terminal of Roc, COR, domain
- Ras of Complex, Roc, domain of DAPkinase
- Leucine Rich repeats (2 copies)
- P-loop containing Nucleoside Triphosphate Hydrolases
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- rheumatoid arthritis
- systemic lupus erythematosus
- endometriosis
- irritable bowel syndrome
- non-insulin-dependent diabetes mellitus
- chronic obstructive pulmonary disease
- abdominal aortic aneurysm
- neuroticism
- benign fibrous histiocytoma
- benign neoplasia
role in cell
- differentiation
- signal transduction in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MFHAS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of protein localization to nucleus
- signal transduction
- negative regulation of toll-like receptor 4 signaling pathway
- negative regulation of inflammatory response
- regulation of toll-like receptor signaling pathway
- positive regulation of p38MAPK cascade
- inflammatory response
- erythrocyte differentiation
- regulation of macrophage activation
- innate immune response
- positive regulation of JNK cascade
- positive regulation of ERK1 and ERK2 cascade
- positive regulation of toll-like receptor 2 signaling pathway
- negative regulation of toll-like receptor 2 signaling pathway
- negative regulation of protein dephosphorylation
- positive regulation of protein kinase B signaling cascade
Cellular Component
Where in the cell the gene product is active
- cytoskeleton
- cytoplasm
- mitochondrion
- lysosome
Molecular Function
What the gene product does at the molecular level
- GTP binding
- ubiquitin protein ligase binding
- protein binding
- protein phosphatase 2A binding