MACF1 Gene Summary [Human]
This gene encodes a large protein containing numerous spectrin and leucine-rich repeat (LRR) domains. The encoded protein is a member of a family of proteins that form bridges between different cytoskeletal elements. This protein facilitates actin-microtubule interactions at the cell periphery and couples the microtubule network to cellular junctions. Alternative splicing results in multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, May 2013]
Details
| Type | Protein Coding |
| Official Symbol | MACF1 |
| Official Name | microtubule actin crosslinking factor 1 [Source:HGNC Symbol;Acc:HGNC:13664] |
| Ensembl ID | ENSG00000127603 |
| Bio databases IDs | |
| Aliases | microtubule actin crosslinking factor 1, actin cross-linking factor, 620 kDa actin binding protein, macrophin 1, trabeculin-alpha, actin cross-linking family protein 7, postulated migration inhibitory factor |
| Synonyms | ABP620, ACF7, Aclp7, Actin cross-linking family protein 7, ACTIN-CROSSLINKING protein 7, D830031N03Rik, KIAA0465, KIAA0754, KIAA1251, LIS9, Lnc-PMIF, LOC362587, MACF, Macf1 (predicted), Microtubule-actin crosslinking factor 1, mKIAA0465, mKIAA0754, OFC4, Trabeculin-α |
| 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 MACF1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Formin Homology Region 1
- Kruppel-like factor (KLF) 9, KLF13, KLF14, KLF16, and similar proteins
- Spectrin like domain
- SH3 domain
- Synaptonemal complex protein 1 (SCP-1)
- enzyme
- Domain of unknown function (DUF3432)
- ATPase
- chromosome segregation protein SMC, common bacterial type
- EF-hand domain
- midsegment 1 domain
- Cornifin (SPRR) family
- EF hand
- actin binding
- Plectin repeat
- Treacher Collins syndrome protein Treacle
- Domain of unknown function (DUF4045)
- SPEC
- EF-hand, calcium binding motif
- chromosome segregation protein SMC, primarily archaeal type
- exonuclease SbcC
- Calponin homology domain
- EF-hand domain pair
- rad50
- EFh
- protein binding
- Calcium binding and coiled-coil domain (CALCOCO1) like
- Growth-Arrest-Specific Protein 2 Domain
- glycine-serine-arginine repeat domain
- actin filament binding
- RecF/RecN/SMC N terminal domain
- Spectrin repeats
- microtubule binding
- actin-binding domain
- calponin homology (CH) domain superfamily
- Spectrin repeat
- Coiled-coil domain-containing protein 158
- glycine arginine rich domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- colorectal cancer
- sarcomatoid nasopharyngeal carcinoma
- sarcomatoid cancer
- nasopharyngeal cancer
- metabolic syndrome X
- liver cancer
- lissencephaly with decussation defect
- migraines
- diffuse systemic sclerosis
role in cell
- expression in
- migration
- assembly
- organization
- rearrangement
- polarity
- migration by
- organization in
- stabilization
- innate immune response 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
- soluble fraction
- detergent resistant lipid raft fraction
- microtubule cytoskeleton
- cell junction
- cell borders
- cellular membrane
- focal adhesions
- actin cytoskeleton
- cell cortex
- Nucleus
- Plasma Membrane
- basal bodies
- Golgi Apparatus
- microtubules
- actin filaments
- membrane ruffles
- nuclear scaffolds
- growth cone
- plus end of microtubule
- actin stress fibers
- postsynaptic density
- neuromuscular synapse
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MACF1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of focal adhesion assembly
- wound healing
- intermediate filament cytoskeleton organization
- Golgi to plasma membrane protein transport
- regulation of epithelial cell migration
- Wnt receptor signaling pathway
- positive regulation of axon extension
- positive regulation of Wnt receptor signaling pathway
- regulation of cell migration
- regulation of microtubule-based process
Cellular Component
Where in the cell the gene product is active
- cytoskeleton
- cytoplasm
- membrane
- actin cytoskeleton
- ruffle membrane
- Golgi apparatus
- intermediate filament
- plasma membrane
- microtubule
Molecular Function
What the gene product does at the molecular level
- actin filament binding
- RNA binding
- protein binding
- actin binding
- microtubule minus-end binding
- cadherin binding
- calcium ion binding
- structural molecule activity
- microtubule binding